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Senescent syncytiotrophoblast secretion during early onset preeclampsia.
Nonn, O., Debnath, O., Valdes, D.S., Sallinger, K., Secener, A.K., Fischer, C., Tiesmeyer, S., Nimo, J., Kuenzer, T., Ulrich, J., Maxian, T., Knöfler, M., Karau, P., Bartolomaeus, H., Kroneis, T., Frolova, A., Neuper, L., Haase, N., Malt, A., Müller-Bötticher, N., Kräker, K., Kedziora, S., Forstner, D., Eils, R., Schmidt-Ullrich, R., Haider, S., Verlohren, S., Stern, C., Sugulle, M., Jones, S., Thilaganathan, B., Kaitu'u-Lino, T.J., Tong, S., Huppertz, B., El-Heliebi, A., Staff, A.C., Coscia, F., Müller, D.N., Dechend, R., Gauster, M., Ishaque, N. and Herse, F.
Hypertension
23 October 2024
(In Press)
Heat stress causes chromatin accessibility and related gene expression changes in crown tissues of barley (Hordeum vulgare).
Kiełbowicz-Matuk, A., Smaczniak, C., Mikołajczak, K., Kuczyńska, A., Xu, X., Braeuning, C. and Krajewski, P.
Plant Molecular Biology 114
(6): 115.
22 October 2024
Spatiotemporal transcriptomic mapping of regenerative inflammation in skeletal muscle reveals a dynamic multilayered tissue architecture.
Patsalos, A., Halasz, L., Oleksak, D., Wei, X., Nagy, G., Tzerpos, P., Conrad, T., Hammers, D.W., Sweeney, H.L. and Nagy, L.
Journal of Clinical Investigation 134
(20): e173858.
15 October 2024
Bi-allelic PRRT2 variants may predispose to Self-limited Familial Infantile Epilepsy.
Koko, M., Elseed, M.A., Mohammed, I.N., Hamed, A.A., Abd Allah, A.S.I., Yahia, A., Siddig, R.A., Altmüller, J., Toliat, M.R., Elmahdi, E.O., Amin, M., Ahmed, E. A., Eltazi, I.Z.M., Elmugadam, F.A., Abdelgadir, W.A., Eltaraifee, E., Ibrahim, M.O.M., Ali, N.M.H., Malik, H.M., Babai, A.M., Bakhit, Y.H., Nürnberg, P., Ibrahim, M.E., Salih, M.A., Schubert, J., Elsayed, L.E.O. and Lerche, H.
European Journal of Human Genetics 32
(10): 1338-1342.
October 2024
Circulating tumor DNA sequencing for biologic classification and individualized risk stratification in patients with Hodgkin Lymphoma.
Heger, J.M., Mammadova, L., Mattlener, J., Sobesky, S., Cirillo, M., Altmüller, J., Kirst, E., Reinke, S., Klapper, W., Bröckelmann, P.J., Ferdinandus, J., Kaul, H., Schneider, G., Schneider, J., Schleifenbaum, J.K., Ullrich, R.T., Freihammer, M., Awerkiew, S., Lohmann, M., Klein, F., Nürnberg, P., Hallek, M., Rossi, D., Mauz-Körholz, C., Gattenlöhner, S., Bräuninger, A., Borchmann, P., von Tresckow, B. and Borchmann, S.
Journal of Clinical Oncology
: JCO2301867.
30 September 2024
(In Press)
Multimodal profiling of peripheral blood identifies proliferating circulating effector CD4(+) T cells as predictors for response to integrin α4β7-blocking therapy in inflammatory bowel disease.
Horn, V., Cancino, C.A., Steinheuer, L.M., Obermayer, B., Fritz, K., Nguyen, A.L., Juhran, K.S., Plattner, C., Bösel, D., Oldenburg, L., Burns, M., Schulz, A.R., Saliutina, M., Mantzivi, E., Lissner, D., Conrad, T., Mashreghi, M.F., Zundler, S., Sonnenberg, E., Schumann, M., Haag, L.M., Beule, D., Flatz, L., Trjanoski, Z., D'Haens, G., Weidinger, C., Mei, H.E., Siegmund, B., Thurley, K. and Hegazy, A.N.
Gastroenterology
28 September 2024
(In Press)
Intercellular extrachromosomal DNA copy-number heterogeneity drives neuroblastoma cell state diversity.
Stöber, M.C., Chamorro González, R., Brückner, L., Conrad, T., Wittstruck, N., Szymansky, A., Eggert, A., Schulte, J.H., Koche, R.P., Henssen, A.G., Schwarz, R.F. and Haase, K.
Cell Reports 43
(9): 114711.
24 September 2024
Intramyocardial sprouting tip cells specify coronary arterialization.
Cano, E., Schwarzkopf, J., Kanda, M., Lindberg, E.L., Hollfinger, I., Pogontke, C., Braeuning, C., Fischer, C., Hübner, N. and Gerhardt, H.
Circulation Research 135
(6): 671-684.
30 August 2024
Pathogen dynamics and discovery of novel viruses and enzymes by deep nucleic acid sequencing of wastewater.
Wyler, E., Lauber, C., Manukyan, A., Deter, A., Quedenau, C., Teixeira Alves, L.G., Wylezich, C., Borodina, T., Seitz, S., Altmüller, J. and Landthaler, M.
Environment International 190
: 108875.
August 2024
Single-nucleus and spatial transcriptome reveal adrenal homeostasis in normal and tumoural adrenal glands.
Altieri, B., Secener, A.K., Sai, S., Fischer, C., Sbiera, S., Arampatzi, P., Kircher, S., Herterich, S., Landwehr, L.S., Vitcetz, S.N., Braeuning, C., Fassnacht, M., Ronchi, C.L. and Sauer, S.
Clinical and Translational Medicine 14
(8): e1798.
August 2024
Mutation-induced LZTR1 polymerization provokes cardiac pathology in recessive Noonan syndrome.
Busley, A.V., Gutiérrez-Gutiérrez, Ó., Hammer, E., Koitka, F., Mirzaiebadizi, A., Steinegger, M., Pape, C., Böhmer, L., Schroeder, H., Kleinsorge, M., Engler, M., Cirstea, I.C., Gremer, L., Willbold, D., Altmüller, J., Marbach, F., Hasenfuss, G., Zimmermann, W.H., Ahmadian, M.R., Wollnik, B. and Cyganek, L.
Cell Reports 43
(7): 114448.
23 July 2024
In situ Patch-seq analysis of microglia reveals a lack of stress genes as found in FACS-isolated microglia.
Bakina, O., Conrad, T., Mitic, N., Vidal, R.O., Obrusnik, T., Sai, S., Nolte, C., Semtner, M. and Kettenmann, H.
PLoS ONE 19
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11 July 2024
T- and L-type calcium channels maintain calcium oscillations in the murine zona glomerulosa.
Dinh, H.A., Volkert, M., Secener, A.K., Scholl, U.I. and Stölting, G.
Hypertension 81
(4): 811-822.
April 2024
Activation of gp130 signaling in T cells drives T(H)17-mediated multi-organ autoimmunity.
Baumgartner, F., Bamopoulos, S.A., Faletti, L., Hsiao, H.J., Holz, M., Gonzalez-Menendez, I., Solé-Boldo, L., Horne, A., Gosavi, S., Özerdem, C., Singh, N., Liebig, S., Ramamoorthy, S., Lehmann, M., Demel, U., Kühl, A.A., Wartewig, T., Ruland, J., Wunderlich, F.T., Schick, M., Walther, W., Rose-John, S., Haas, S., Quintanilla-Martinez, L., Feske, S., Ehl, S., Glauben, R. and Keller, U.
Science Signaling 17
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20 February 2024
The role of microRNAs in defining LSECs cellular identity and in regulating F8 gene expression.
Jamil, M. A., Al-Rifai, R., Nuesgen, N., Altmüller, J., Oldenburg, J. and El-Maarri, O.
Frontiers in Genetics 15
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19 February 2024
SORCS2 activity in pancreatic α-cells safeguards insulin granule formation and release from glucose-stressed β-cells.
Kalnytska, O., Qvist, P., Kunz, S., Conrad, T., Willnow, T.E. and Schmidt, V.
iScience 27
(1): 108725.
19 January 2024
Interferon regulatory factor 4 plays a pivotal role in the development of aGVHD-associated colitis.
Frueh, J.T., Campe, J., Sunaga-Franze, D.Y., Verheyden, N.A., Ghimire, S., Meedt, E., Haslinger, D., Harenkamp, S., Staudenraus, D., Sauer, S., Kreft, A., Schubert, R., Lohoff, M., Krueger, A., Bonig, H., Chiocchetti, A.G., Zeiser, R., Holler, E. and Ullrich, E.
OncoImmunology 13
(1): 2296712.
2024
XPF interacts with TOP2B for R-loop processing and DNA looping on actively transcribed genes.
Chatzinikolaou, G., Stratigi, K., Siametis, A., Goulielmaki, E., Akalestou-Clocher, A., Tsamardinos, I., Topalis, P., Austin, C., Bouwman, B.A.M., Crosetto, N., Altmüller, J. and Garinis, G.A.
Science Advances 9
(45): eadi2095.
10 November 2023
Spatial and single-cell profiling of the metabolome, transcriptome and epigenome of the aging mouse liver.
Nikopoulou, C., Kleinenkuhnen, N., Parekh, S., Sandoval, T., Ziegenhain, C., Schneider, F., Giavalisco, P., Donahue, K.F., Vesting, A.J., Kirchner, M., Bozukova, M., Vossen, C., Altmüller, J., Wunderlich, T., Sandberg, R., Kondylis, V., Tresch, A. and Tessarz, P.
Nature Aging 3
(11): 1430-1445.
November 2023
NCBench: providing an open, reproducible, transparent, adaptable, and continuous benchmark approach for DNA-sequencing-based variant calling.
Hanssen, F., Gabernet, G., Smith, N.H., Mertes, C., Neogi, A.G., Brandhoff, L., Ossowski, A., Altmueller, J., Becker, K., Petzold, A., Sturm, M., Stöcker, T., Sivalingam, S., Brand, F., Schmidt, A., Buness, A., Probst, A.J., Motameny, S. and Köster, J.
F1000Research 12
: 1125.
11 September 2023
Potential contribution of ancient introgression to the evolution of a derived reproductive strategy in ricefishes.
Flury, J.M., Meusemann, K., Martin, S., Hilgers, L., Spanke, T., Böhne, A., Herder, F., Mokodongan, D., Altmüller, J., Wowor, D., Misof, B., Nolte, A.W. and Schwarzer, J.
Genome Biology and Evolution 15
(8): evad138.
29 August 2023
Long-read sequencing identifies a common transposition haplotype predisposing for CLCNKB deletions.
Tschernoster, N., Erger, F., Kohl, S., Reusch, B., Wenzel, A., Walsh, S., Thiele, H., Becker, C., Franitza, M., Bartram, M.P., Kömhoff, M., Schumacher, L., Kukat, C., Borodina, T., Quedenau, C., Nürnberg, P., Rinschen, M.M., Driller, J.H., Pedersen, B.P., Schlingmann, K.P., Hüttel, B., Bockenhauer, D., Beck, B. and Altmüller, J.
Genome Medicine 15
(1): 62.
23 August 2023
The interleukin-11 receptor variant p.W307R results in craniosynostosis in humans.
Ahmad, I., Lokau, J., Kespohl, B., Malik, N.A., Baig, S.M., Hartig, R., Behme, D., Schwab, R., Altmüller, J., Jameel, M., Mucha, S., Thiele, H., Tariq, M., Nürnberg, P., Erdmann, J. and Garbers, C.
Scientific Reports 13
(1): 13479.
18 August 2023
Platelet-derived factors dysregulate placental sphingosine-1-phosphate receptor 2 in human trophoblasts.
Lyssy, F., Guettler, J., Brugger, B.A., Stern, C., Forstner, D., Nonn, O., Fischer, C., Herse, F., Wernitznig, S., Hirschmugl, B., Wadsack, C. and Gauster, M.
Reproductive BioMedicine Online 47
(2): 103215.
August 2023
Ablation of collagen XII disturbs joint extracellular matrix organization and causes patellar subluxation.
Zhu, M., Metzen, F., Hopkinson, M., Betz, J., Heilig, J., Sodhi, J., Imhof, T., Niehoff, A., Birk, D.E., Izu, Y., Krüger, M., Pitsillides, A. A., Altmüller, J., van Osch, G.J.V.M., Straub, V., Schreiber, G., Paulsson, M., Koch, M. and Brachvogel, B.
iScience 26
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21 July 2023
Oncogenic role and target properties of the lysine-specific demethylase KDM1A in chronic lymphocytic leukemia.
Jiang, Q., Stachelscheid, J., Bloehdorn, J., Pacholewska, A., Aszyk, C.M., Grotenhuijs, F., Müller, T.A., Onder, O., Wagle, P., Herling, C.D., Kleppe, M., Wang, Z., Coombes, K.R., Robrecht, S., Dalvi, P.S., Plosnita, B., Mayer, P., Abruzzo, L.V., Altmüller, J., Gathof, B.S., Persigehl, T., Fischer, K., Jebaraj, B.M.C., Rienhoff, H.Y., Ecker, R.C., Zhao, Y., Bruns, C.J., Stilgenbauer, S., Elenitoba-Johnson, K.S.J., Hallek, M., Schweiger, M.R., Odenthal, M., Vasyutina, E. and Herling, M.
Blood 142
(1): 44-61.
6 July 2023
iPSC-derived reactive astrocytes from patients with multiple-sclerosis protect cocultured neurons in inflammatory conditions.
Kerkering, J., Muinjonov, B., Rosiewicz, K.S., Diecke, S., Biese, C., Schiweck, J., Chien, C., Zocholl, D., Conrad, T., Paul, F., Alisch, M. and Siffrin, V.
Journal of Clinical Investigation 133
(13): e164637.
3 July 2023
A local subset of mesenchymal cells expressing the transcription factor Osr1 orchestrates lymph node initiation.
Vallecillo-García, P., Orgeur, M., Comai, G., Poehle-Kronnawitter, S., Fischer, C., Gloger, M., Dumas, C.E., Giesecke-Thiel, C., Sauer, S., Tajbakhsh, S., Höpken, U.E. and Stricker, S.
Immunity 56
(6): 1204-1219.
13 June 2023
The phenotypic and genotypic spectrum of epilepsy and intellectual disability in adults: Implications for genetic testing.
von Brauchitsch, S., Haslinger, D., Lindlar, S., Thiele, H., Bernsen, N., Zahnert, F., Reif, P.S., Balcik, Y., Au, P.Y.B., Josephson, C., Altmüller, J., Strzelczyk, A., Knake, S., Rosenow, F., Chiocchetti, A. and Klein, K.M.
Epilepsia Open 8
(2): 497-508.
June 2023
Germline C1GALT1C1 mutation causes a multisystem chaperonopathy.
Erger, F., Aryal, R.P., Reusch, B., Matsumoto, Y., Meyer, R., Zeng, J., Knopp, C., Noel, M., Muerner, L., Wenzel, A., Kohl, S., Tschernoster, N., Rappl, G., Rouvet, I., Schröder-Braunstein, J., Seibert, F.S., Thiele, H., Häusler, M.G., Weber, L.T., Büttner-Herold, M., Elbracht, M., Cummings, S.F., Altmüller, J., Habbig, S., Cummings, R.D. and Beck, B.B.
Proceedings of the National Academy of Sciences of the United States of America 120
(22): e2211087120.
30 May 2023
Establishment of gastrointestinal assembloids to study the interplay between epithelial crypts and their mesenchymal niche.
Lin, M., Hartl, K., Heuberger, J., Beccaceci, G., Berger, H., Li, H., Liu, L., Müllerke, S., Conrad, T., Heymann, F., Woehler, A., Tacke, F., Rajewsky, N. and Sigal, M.
Nature Communications 14
(1): 3025.
25 May 2023
The fate of oxidative strand breaks in mitochondrial DNA.
Trombly, G., Said, A.M., Kudin, A.P., Peeva, V., Altmüller, J., Becker, K., Köhrer, K., Zsurka, G. and Kunz, W.S.
Antioxidants 12
(5): 1087.
12 May 2023
The genetic spectrum of congenital ocular motor apraxia type Cogan: an observational study, continued.
Schröder, S., Yigit, G., Li, Y., Altmüller, J., Büttel, H.M., Fiedler, B., Kretzschmar, C., Nürnberg, P., Seeger, J., Serpieri, V., Valente, E.M., Wollnik, B., Boltshauser, E. and Brockmann, K.
Orphanet Journal of Rare Diseases 18
(1): 101.
2 May 2023
Parallel sequencing of extrachromosomal circular DNAs and transcriptomes in single cancer cells.
Chamorro González, R., Conrad, T., Stöber, M.C., Xu, R., Giurgiu, M., Rodriguez-Fos, E., Kasack, K., Brückner, L., van Leen, E., Helmsauer, K., Dorado Garcia, H., Stefanova, M.E., Hung, K.L., Bei, Y., Schmelz, K., Lodrini, M., Mundlos, S., Chang, H.Y., Deubzer, H.E., Sauer, S., Eggert, A., Schulte, J.H., Schwarz, R.F., Haase, K., Koche, R.P. and Henssen, A.G.
Nature Genetics 55
(5): 880-890.
May 2023
Genomic ALK alterations in primary and relapsed neuroblastoma.
Rosswog, C., Fassunke, J., Ernst, A., Schömig-Markiefka, B., Merkelbach-Bruse, S., Bartenhagen, C., Cartolano, M., Ackermann, S., Theissen, J., Blattner-Johnson, M., Jones, B., Schramm, K., Altmüller, J., Nürnberg, P., Ortmann, M., Berthold, F., Peifer, M., Büttner, R., Westermann, F., Schulte, J.H., Simon, T., Hero, B. and Fischer, M.
British Journal of Cancer 128
(8): 1559-1571.
12 April 2023
Expanding the spectrum of EEF1D neurodevelopmental disorders: biallelic variants in the guanine exchange domain.
Averdunk, L., Al-Thihli, K., Surowy, H., Lüdecke, H.J., Drechsler, M., Yigit, G., Smorag, L., Hallak, B.A., Li, Y., Altmüller, J., Guthoff, T., Wallot, M., Nürnberg, P., Wollnik, B., Abou Jamra, R., Al-Maawali, A. and Wieczorek, D.
Clinical Genetics 103
(4): 484-491.
April 2023
Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita with microcephaly.
Schnabel, F., Schuler, E., Al-Maawali, A., Chaurasia, A., Syrbe, S., Al-Kindi, A., Bhavani, G.S., Shukla, A., Altmüller, J., Nürnberg, P., Banka, S., Girisha, K.M., Li, Y., Wollnik, B. and Yigit, G.
Human Genetics 142
(4): 543-552.
April 2023
Multiomic analysis of malignant pleural mesothelioma identifies molecular axes and specialized tumor profiles driving intertumor heterogeneity.
Mangiante, L., Alcala, N., Sexton-Oates, A., Di Genova, A., Gonzalez-Perez, A., Khandekar, A., Bergstrom, E.N., Kim, J., Liu, X., Blazquez-Encinas, R., Giacobi, C., Le Stang, N., Boyault, S., Cuenin, C., Tabone-Eglinger, S., Damiola, F., Voegele, C., Ardin, M., Michallet, M.C., Soudade, L., Delhomme, T.M., Poret, A., Brevet, M., Copin, M.C., Giusiano-Courcambeck, S., Damotte, D., Girard, C., Hofman, V., Hofman, P., Mouroux, J., Cohen, C., Lacomme, S., Mazieres, J., de Montpreville, V.T., Perrin, C., Planchard, G., Rousseau, N., Rouquette, I., Sagan, C., Scherpereel, A., Thivolet, F., Vignaud, J.M., Jean, D., Ilg, A.G.S., Olaso, R., Meyer, V., Boland-Auge, A., Deleuze, J.F., Altmuller, J., Nuernberg, P., Ibáñez-Costa, A., Castaño, J.P., Lantuejoul, S., Ghantous, A., Maussion, C., Courtiol, P., Hernandez-Vargas, H., Caux, C., Girard, N., Lopez-Bigas, N., Alexandrov, L.B., Galateau-Salle, F., Foll, M. and Fernandez-Cuesta, L.
Nature Genetics 55
(4): 607-618.
April 2023
The genomic landscape across 474 surgically accessible epileptogenic human brain lesions.
López-Rivera, J.A., Leu, C., Macnee, M., Khoury, J., Hoffmann, L., Coras, R., Kobow, K., Bhattarai, N., Pérez-Palma, E., Hamer, H., Brandner, S., Rössler, K., Bien, C.G., Kalbhenn, T., Pieper, T., Hartlieb, T., Butler, E., Genovese, G., Becker, K., Altmüller, J., Niestroj, L.M., Ferguson, L., Busch, R.M., Nürnberg, P., Najm, I., Blümcke, I. and Lal, D.
Brain 146
(4): 1342-1356.
April 2023
Epigenetic regulation of plastin 3 expression by the macrosatellite DXZ4 and the transcriptional regulator CHD4.
Strathmann, E.A., Hölker, I., Tschernoster, N., Hosseinibarkooie, S., Come, J., Martinat, C., Altmüller, J. and Wirth, B.
American Journal of Human Genetics 110
(3): 442-459.
2 March 2023
Distinct tissue niches direct lung immunopathology via CCL18 and CCL21 in severe COVID-19.
Mothes, R., Pascual-Reguant, A., Koehler, R., Liebeskind, J., Liebheit, A., Bauherr, S., Philipsen, L., Dittmayer, C., Laue, M., von Manitius, R., Elezkurtaj, S., Durek, P., Heinrich, F., Heinz, G.A., Guerra, G.M., Obermayer, B., Meinhardt, J., Ihlow, J., Radke, J., Heppner, F.L., Enghard, P., Stockmann, H., Aschman, T., Schneider, J., Corman, V.M., Sander, L.E., Mashreghi, M.F., Conrad, T., Hocke, A.C., Niesner, R.A., Radbruch, H. and Hauser, A.E.
Nature Communications 14
(1): 791.
11 February 2023
A single-cell RNA labeling strategy for measuring stress response upon tissue dissociation.
Neuschulz, A., Bakina, O., Badillo Lisakowski, V., Olivares-Chauvet, P., Conrad, T., Gotthardt, M., Kettenmann, H. and Junker, J.P.
Molecular Systems Biology 19
(2): e11147.
10 February 2023
Single-cell clonal tracking of persistent T-cells in allogeneic hematopoietic stem cell transplantation.
Obermayer, B., Keilholz, L., Conrad, T., Frentsch, M., Blau, I.W., Vuong, L., Lesch, S., Movasshagi, K., Tietze-Stolley, C., Loyal, L., Henze, L., Penack, O., Stervbo, U., Babel, N., Haas, S., Beule, D., Bullinger, L., Wittenbecher, F. and Na, I.K.
Frontiers in Immunology 14
: 1114368.
10 February 2023
Modeling of ACTN4-based podocytopathy using Drosophila nephrocytes.
Odenthal, J., Dittrich, S., Ludwig, V., Merz, T., Reitmeier, K., Reusch, B., Höhne, M., Cosgun, Z.C., Hohenadel, M., Putnik, J., Göbel, H., Rinschen, M.M., Altmüller, J., Koehler, S., Schermer, B., Benzing, T., Beck, B.B., Brinkkötter, P.T., Habbig, S. and Bartram, M.P.
Kidney International Reports 8
(2): 317-329.
February 2023
Npl3 functions in mRNP assembly by recruitment of mRNP components to the transcription site and their transfer onto the mRNA.
Keil, P., Wulf, A., Kachariya, N., Reuscher, S., Hühn, K., Silbern, I., Altmüller, J., Keller, M., Stehle, R., Zarnack, K., Sattler, M., Urlaub, H. and Sträßer, K.
Nucleic Acids Research 51
(2): 831-851.
25 January 2023
Diverse but unique astrocytic phenotypes during embryonic stem cell differentiation, culturing and development.
Freitag, K., Eede, P., Ivanov, A., Sterczyk, N., Schneeberger, S., Borodina, T., Sauer, S., Beule, D. and Heppner, F.L.
Communications Biology 6
(1): 40.
13 January 2023
SARS-CoV-2 infection dynamics revealed by wastewater sequencing analysis and deconvolution.
Schumann, V.F., de Castro Cuadrat, R.R., Wyler, E., Wurmus, R., Deter, A., Quedenau, C., Dohmen, J., Faxel, M., Borodina, T., Blume, A., Freimuth, J., Meixner, M., Grau, J.H., Liere, K., Hackenbeck, T., Zietzschmann, F., Gnirss, R., Böckelmann, U., Uyar, B., Franke, V., Barke, N., Altmüller, J., Rajewsky, N., Landthaler, M. and Akalin, A.
Science of the Total Environment 853
: 158931.
20 December 2022
Mutant phosphodiesterase 3A protects from hypertension-induced cardiac damage.
Ercu, M., Mücke, M.B., Pallien, T., Markó, L., Sholokh, A., Schächterle, C., Aydin, A., Kidd, A., Walter, S., Esmati, Y., McMurray, B.J., Lato, D.F., Sunaga-Franze, D.Y., Dierks, P.H., Flores, B.I.M., Walker-Gray, R., Gong, M., Merticariu, C., Zühlke, K., Russwurm, M., Liu, T., Batolomaeus, T.U.P., Pautz, S., Schelenz, S., Taube, M., Napieczynska, H., Heuser, A., Eichhorst, J., Lehmann, M., Miller, D.C., Diecke, S., Qadri, F., Popova, E., Langanki, R., Movsesian, M.A., Herberg, F.W., Forslund, S.K., Müller, D.N., Borodina, T., Maass, P.G., Bähring, S., Hübner, N., Bader, M. and Klussmann, E.
Circulation 146
(23): 1758-1778.
6 December 2022
Detailed stratified GWAS analysis for severe COVID-19 in four European populations.
Degenhardt, F., Ellinghaus, D., Juzenas, S., Lerga-Jaso, J., Wendorff, M., Maya-Miles, D., Uellendahl-Werth, F., ElAbd, H., Rühlemann, M.C., Arora, J., Özer, O., Lenning, O.B., Myhre, R., Vadla, M.S., Wacker, E.M., Wienbrandt, L., Ortiz, A.B., de Salazar, A., Chercoles, A.G., Palom, A., Ruiz, A., Garcia-Fernandez, A.E., Blanco-Grau, A., Mantovani, A., Zanella, A., Holten, A.R., Mayer, A., Bandera, A., Cherubini, A., Protti, A., Aghemo, A., Gerussi, A., Ramirez, A., Braun, A., Nebel, A., Barreira, A., Lleo, A., Teles, A., Kildal, A.B., Biondi, A., Caballero-Garralda, A., Ganna, A., Gori, A., Glück, A., Lind, A., Tanck, A., Hinney, A., Nolla, A.C., Fracanzani, A.L., Peschuck, A., Cavallero, A., Dyrhol-Riise, A.M., Ruello, A., Julià, A., Muscatello, A., Pesenti, A., Voza, A., Rando-Segura, A., Solier, A., Schmidt, A., Cortes, B., Mateos, B., Nafria-Jimenez, B., Schaefer, B., Jensen, B., Bellinghausen, C., Maj, C., Ferrando, C., Horra, C., Quereda, C., Skurk, C., Thibeault, C., Scollo, C., Herr, C., Spinner, C.D., Gassner, C., Lange, C., Hu, C., Paccapelo, C., Lehmann, C., Angelini, C., Cappadona, C., Azuure, C., Bianco, C., Cea, C., Sancho, C., Hoff, D.A.L., Galimberti, D., Prati, D., Haschka, D., Jiménez, D., Pestaña, D., Toapanta, D., Muñiz-Diaz, E., Azzolini, E., Sandoval, E., Binatti, E., Scarpini, E., Helbig, E.T., Casalone, E., Urrechaga, E., Paraboschi, E.M., Pontali, E., Reverter, E., Calderón, E.J., Navas, E., Solligård, E., Contro, E., Arana-Arri, E., Aziz, F., Garcia, F., Sánchez, F.G., Ceriotti, F., Martinelli-Boneschi, F., Peyvandi, F., Kurth, F., Blasi, F., Malvestiti, F., Medrano, F.J., Mesonero, F., Rodriguez-Frias, F., Hanses, F., Müller, F., Hemmrich-Stanisak, G., Bellani, G., Grasselli, G., Pezzoli, G., Costantino, G., Albano, G., Cardamone, G., Bellelli, G., Citerio, G., Foti, G., Lamorte, G., Matullo, G., Baselli, G., Kurihara, H., Neb, H., My, I., Kurth, I., Hernández, I., Pink, I., Rojas, I., Galván-Femenia, I., Holter, J.C., Afset, J.E., Heyckendorf, J., Kässens, J., Damås, J.K., Rybniker, J., Altmüller, J., Ampuero, J., Martín, J., Erdmann, J., Banales, J.M., Badia, J.R., Dopazo, J., Schneider, J., Bergan, J., Barretina, J., Walter, J., Quero, J.H., Goikoetxea, J., Delgado, J., Guerrero, J.M., Fazaal, J., Kraft, J., Schröder, J., Risnes, K., Banasik, K., Müller, K.E., Gaede, K.I., Garcia-Etxebarria, K., Tonby, K., Heggelund, L., Izquierdo-Sanchez, L., Bettini, L.Rachele, Sumoy, L., Sander, L.E., Lippert, L.J., Terranova, L., Nkambule, L., Knopp, L., Gustad, L.T., Garbarino, L., Santoro, L., Téllez, L., Roade, L., Ostadreza, M., Intxausti, M., Kogevinas, M., Riveiro-Barciela, M., Berger, M.M., Schaefer, M., Niemi, M.E.K., Gutiérrez-Stampa, M.A., Carrabba, M., Figuera Basso, M.E., Valsecchi, M.G., Hernandez-Tejero, M., Vehreschild, M.J.G.T, Manunta, M., Acosta-Herrera, M., D'Angiò, M., Baldini, M., Cazzaniga, M., Grimsrud, M.M., Cornberg, M., Nöthen, M.M., Marquié, M., Castoldi, M., Cordioli, M., Cecconi, M., D'Amato, M., Augustin, M., Tomasi, M., Boada, M., Dreher, M., Seilmaier, M.J., Joannidis, M., Wittig, M., Mazzocco, M., Ciccarelli, M., Rodríguez-Gandía, M., Bocciolone, M., Miozzo, M., Ayo, N.I., Blay, N., Chueca, N., Montano, N., Braun, N., Ludwig, N., Marx, N., Martínez, N., Cornely, O.A., Witzke, O., Palmieri, O., Faverio, P., Preatoni, P., Bonfanti, P., Omodei, P., Tentorio, P., Castro, P., Rodrigues, P.M., España, P.P., Hoffmann, P., Rosenstiel, P., Schommers, P., Suwalski, P., Pablo, R., Ferrer, R., Bals, R., Gualtierotti, R., Gallego-Durán, R., Nieto, R., Carpani, R., Morilla, R., Badalamenti, S., Haider, S., Ciesek, S., May, S., Bombace, S., Marsal, S., Pigazzini, S., Klein, S., Pelusi, S., Wilfling, S., Bosari, S., Volland, S., Brunak, S., Raychaudhuri, S., Schreiber, S., Heilmann-Heimbach, S., Aliberti, S., Ripke, S., Dudman, S., Wesse, T., Zheng, T., Bahmer, T., Eggermann, T., Illig, T., Brenner, T., Pumarola, T., Feldt, T., Folseraas, T., Cejudo, T.G., Landmesser, U., Protzer, U., Hehr, U., Rimoldi, V., Monzani, V., Skogen, V., Keitel, V., Kopfnagel, V., Friaza, V., Andrade, V., Moreno, V., Albrecht, W., Peter, W., Poller, W., Farre, X., Yi, X., Wang, X., Khodamoradi, Y., Karadeniz, Z., Latiano, A., Goerg, S., Bacher, P., Koehler, P., Tran, F., Zoller, H., Schulte, E.C., Heidecker, B., Ludwig, K.U., Fernández, J., Romero-Gómez, M., Albillos, A., Invernizzi, P., Buti, M., Duga, S., Bujanda, L., Hov, J.R., Lenz, T.L., Asselta, R., Cid, R., Valenti, L., Karlsen, T.H., Cáceres, M. and Franke, A.
Human Molecular Genetics 31
(23): 3945-3966.
1 December 2022
NIK/MAP3K14 in hepatocytes orchestrates NASH to hepatocellular carcinoma progression via JAK2/STAT5 inhibition.
Vesting, A.J., Jais, A., Klemm, P., Steuernagel, L., Wienand, P., Fog-Tonnesen, M., Hvid, H., Schumacher, A.L., Kukat, C., Nolte, H., Georgomanolis, T., Altmüller, J., Pasparakis, M., Schmidt, A., Krüger, M., Supprian, M.S., Waisman, A., Straub, B.K., Raschzok, N., Bernier, M., Birkenfeld, A.L., Hövelmeyer, N., Brüning, J.C. and Wunderlich, F.T.
Molecular Metabolism 66
: 101626.
December 2022
Deregulation and epigenetic modification of BCL2-family genes cause resistance to venetoclax in hematologic malignancies.
Thomalla, D., Beckmann, L., Grimm, C., Oliverio, M., Meder, L., Herling, C.D., Nieper, P., Feldmann, T., Merkel, O., Lorsy, E., da Palma Guerreiro, A., von Jan, J., Kisis, I., Wasserburger, E., Claasen, J., Faitschuk-Meyer, E., Altmüller, J., Nürnberg, P., Yang, T.P., Lienhard, M., Herwig, R., Kreuzer, K.A., Pallasch, C.P., Buettner, R., Schäfer, S.C., Hartley, J., Abken, H., Peifer, M., Kashkar, H., Knittel, G., Eichhorst, B., Ullrich, R.T., Herling, M., Reinhardt, H.C., Hallek, M., Schweiger, M.R. and Frenzel, L.P.
Blood 140
(20): 2113-2126.
17 November 2022
Somatic mosaicism in STAG2-associated cohesinopathies: Expansion of the genotypic and phenotypic spectrum.
Schmidt, J., Dreha-Kulaczewski, S., Zafeiriou, M.P., Schreiber, M.K., Wilken, B., Funke, R., Neuhofer, C.M., Altmüller, J., Thiele, H., Nürnberg, P., Biskup, S., Li, Y., Zimmermann, W.H., Kaulfuß, S., Yigit, G. and Wollnik, B.
Frontiers in Cell and Developmental Biology 10
: 1025332.
16 November 2022
Integrated genomic surveillance enables tracing of person-to-person SARS-CoV-2 transmission chains during community transmission and reveals extensive onward transmission of travel-imported infections, Germany, June to July 2021.
Houwaart, Torsten, Belhaj, S., Tawalbeh, E., Nagels, D., Fröhlich, Y., Finzer, P., Ciruela, P., Sabrià, A., Herrero, M., Andrés, C., Antón, A., Benmoumene, A., Asskali, D., Haidar, H., von Dahlen, J., Nicolai, J., Stiller, M., Blum, J., Lange, C., Adelmann, C., Schroer, B., Osmers, U., Grice, C., Kirfel, P.P., Jomaa, H., Strelow, D., Hülse, L., Pigulla, M., Kreuzer, P., Tyshaieva, A., Weber, J., Wienemann, T., Kohns Vasconcelos, M., Hoffmann, K., Lübke, N., Hauka, S., Andree, M., Scholz, C.J., Jazmati, N., Göbels, K., Zotz, R., Pfeffer, K., Timm, J., Ehlkes, L., Walker, A. and Dilthey, A.T.
Eurosurveillance 27
(43): 2101089.
27 October 2022
Candesartan does not activate PPAR(γ) and its target genes in early gestation trophoblasts.
Neuper, L., Kummer, D., Forstner, D., Guettler, J., Ghaffari-Tabrizi-Wizsy, N., Fischer, C., Juch, H., Nonn, O. and Gauster, M.
International Journal of Molecular Sciences 23
(20): 12326.
October 2022
WARS1 and SARS1: two tRNA synthetases implicated in autosomal recessive microcephaly.
Bögershausen, N., Krawczyk, H.E., Jamra, R.A., Lin, S.J., Yigit, G., Hüning, I., Polo, A.M., Vona, B., Huang, K., Schmidt, J., Altmüller, J., Luppe, J., Platzer, K., Dörgeloh, B.B., Busche, A., Biskup, S., Mendes, M.I., Smith, D.E.C., Salomons, G.S., Zibat, A., Bültmann, E., Nürnberg, P., Spielmann, M., Lemke, J.R., Li, Y., Zenker, M., Varshney, G.K., Hillen, H.S., Kratz, C.P. and Wollnik, B.
Human Mutation 43
(10): 1454-1471.
October 2022
Reliable assessment of telomere maintenance mechanisms in neuroblastoma.
Meeser, A., Bartenhagen, C., Werr, L., Hellmann, A.M., Kahlert, Y., Hemstedt, N., Nürnberg, P., Altmüller, J., Ackermann, S., Hero, B., Simon, T., Peifer, M., Fischer, M. and Rosswog, C.
Cell and Bioscience 12
(1): 160.
24 September 2022
Alport syndrome and autosomal dominant tubulointerstitial kidney disease frequently underlie end stage renal disease of unknown origin - a single center analysis.
Leenen, E., Erger, F., Altmüller, J., Wenzel, A., Thiele, H., Harth, A., Tschernoster, N., Lokhande, S., Joerres, A., Becker, J.U., Ekici, A., Huettel, B., Beck, B. and Weidemann, A.
Nephrology Dialysis Transplantation 37
(10): 1895-1905.
22 September 2022
Mutations in TAF8 cause a neurodegenerative disorder.
Wong, K.M., Jepsen, W.M., Efthymiou, S., Salpietro, V., Sanchez-Castillo, M., Yip, J., Kriouile, Y., Diegmann, S., Dreha-Kulaczewski, S., Altmüller, J., Thiele, H., Nürnberg, P., Toosi, M.B., Akhondian, J., Ghayoor Karimiani, E., Hummel-Abmeier, H., Huppke, B., Houlden, H., Gärtner, J., Maroofian, R. and Huppke, P.
Brain 145
(9): 3022-3034.
September 2022
Full-length spatial transcriptomics reveals the unexplored isoform diversity of the myocardium post-MI.
Boileau, E., Li, X., Naarmann-de Vries, I.S., Becker, C., Casper, R., Altmüller, J., Leuschner, F. and Dieterich, C.
Frontiers in Genetics 13
: 912572.
22 July 2022
De novo variants of CSNK2B cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathway.
Asif, M., Kaygusuz, E., Shinawi, M., Nickelsen, A., Hsieh, T.C., Wagle, P., Budde, B., Hochscherf, J., Abdullah, U., Höning, S., Nienberg, C., Lindenblatt, D., Noegel, A.A., Altmüller, J., Thiele, H., Motameny, S., Fleischer, N., Segal, I., Pais, L., Tinschert, S., Samra, N.G., Savatt, J.M., Rudy, N.L., De Luca, C., Fortugno, P., White, S.M., Krawitz, P., Hurst, A.C.E., Niefind, K., Jose, J., Brancati, F., Nürnberg, P. and Hussain, M.S.
Human Genetics and Genomics Advances 3
(3): 100111.
14 July 2022
Uncovering the contribution of moderate-penetrance susceptibility genes to breast cancer by whole-exome sequencing and targeted enrichment sequencing of candidate genes in women of European ancestry.
Dumont, M., Weber-Lassalle, N., Joly-Beauparlant, C., Ernst, C., Droit, A., Feng, B.J., Dubois, S., Collin-Deschesnes, A.C., Soucy, P., Vallée, M., Fournier, F., Lemaçon, A., Adank, M.A., Allen, J., Altmüller, J., Arnold, N., Ausems, M.G.E.M., Berutti, R., Bolla, M.K., Bull, S., Carvalho, S., Cornelissen, S., Dufault, M.R., Dunning, A.M., Engel, C., Gehrig, A., Geurts-Giele, W.R.R., Gieger, C., Green, J., Hackmann, K., Helmy, M., Hentschel, J., Hogervorst, F.B.L., Hollestelle, A., Hooning, M.J., Horváth, J., Ikram, M.A., Kaulfuß, S., Keeman, R., Kuang, D., Luccarini, C., Maier, W., Martens, J.W.M., Niederacher, D., Nürnberg, P., Ott, C.E., Peters, A., Pharoah, P.D.P., Ramirez, A., Ramser, J., Riedel-Heller, S., Schmidt, G., Shah, M., Scherer, M., Stäbler, A., Strom, T.M., Sutter, C., Thiele, H., van Asperen, C.J., van der Kolk, L., van der Luijt, R.B., Volk, A.E., Wagner, M., Waisfisz, Q., Wang, Q., Wang-Gohrke, S., Weber, B.H.F., Devilee, P., Tavtigian, S., Bader, G.D., Meindl, A., Goldgar, D.E., Andrulis, I.L., Schmutzler, R.K., Easton, D.F., Schmidt, M.K., Hahnen, E. and Simard, J.
Cancers 14
(14): 3363.
11 July 2022
Prevalence of cancer predisposition germline variants in male breast cancer patients: results of the German Consortium for Hereditary Breast and Ovarian Cancer.
Rolfes, M., Borde, J., Möllenhoff, K., Kayali, M., Ernst, C., Gehrig, A., Sutter, C., Ramser, J., Niederacher, D., Horváth, J., Arnold, N., Meindl, A., Auber, B., Rump, A., Wang-Gohrke, S., Ritter, J., Hentschel, J., Thiele, H., Altmüller, J., Nürnberg, P., Rhiem, K., Engel, C., Wappenschmidt, B., Schmutzler, R.K., Hahnen, E. and Hauke, J.
Cancers 14
(13): 3292.
5 July 2022
Spermidine reduces neuroinflammation and soluble amyloid beta in an Alzheimer’s disease mouse model.
Freitag, K., Sterczyk, N., Wendlinger, S., Obermayer, B., Schulz, J., Farztdinov, V., Mülleder, M., Ralser, M., Houtman, J., Fleck, L., Braeuning, C., Sansevrino, R., Hoffmann, C., Milovanovic, D., Sigrist, S.J., Conrad, T., Beule, D., Heppner, F.L. and Jendrach, M.
Journal of Neuroinflammation 19
(1): 172.
2 July 2022
De novo whole genome assembly of the Roborovski dwarf hamster (Phodopus roborovskii) genome, an animal model for severe/critical COVID-19.
Andreotti, S., Altmüller, J., Quedenau, C., Borodina, T., Nouailles, G., Teixeira Alves, L.G., Landthaler, M., Bieniara, M., Trimpert, J. and Wyler, E.
Genome Biology and Evolution 14
(7): evac100.
July 2022
Male carriers of HLA-C*04:01 have increased risk of cardiac injury in COVID-19.
Suwalski, P., Violano, M., Müller, M., Patriki, D., Thibeault, C., Quedenau, C., Wang, X., Karadeniz, Z., Saccomanno, J., Doehn, J.M., Hübner, R.H., Hinzmann, B., Beer, H.J., Wiggli, B., Siemann, S., Suttorp, N., Witzenrath, M., Hippenstiel, S., Skurk, C., Poller, W., Sander, L.E., Kurth, F., Borodina, T., Guettouche, T., Landmesser, U. and Heidecker, B.
Journal of Cardiovascular Aging 2
(3): 33.
27 June 2022
Tongue immune compartment analysis reveals spatial macrophage heterogeneity.
Lyras, E.M., Zimmermann, K., Wagner, L.K., Dörr, D., Klose, C.S.N, Fischer, C., Jung, S., Yona, S., Hovav, A.H., Stenzel, W., Dommerich, S., Conrad, T., Leutz, A. and Mildner, A.
eLife 11
: 77490.
24 June 2022
Exon junction complex-associated multi-adapter RNPS1 nucleates splicing regulatory complexes to maintain transcriptome surveillance.
Schlautmann, L.P., Lackmann, J.W., Altmüller, J., Dieterich, C., Boehm, V. and Gehring, N.H.
Nucleic Acids Research 50
(10): 5899-5918.
10 June 2022
Unraveling structural rearrangements of the CFH gene cluster in atypical hemolytic uremic syndrome patients using molecular combing and long-fragment targeted sequencing.
Tschernoster, N., Erger, F., Walsh, P.R., McNicholas, B., Fistrek, M., Habbig, S., Schumacher, L., Folz-Donahue, K., Kukat, C., Toliat, M.R., Becker, C., Thiele, H., Kavanagh, D., Nürnberg, P., Beck, B. and Altmüller, J.
Journal of Molecular Diagnostics 24
(6): 619-631.
June 2022
Generation of hiPSC-derived skeletal muscle cells: exploiting the potential of skeletal muscle-derived hiPSCs.
Metzler, E., Escobar, H., Sunaga-Franze, D.Y., Sauer, S., Diecke, S. and Spuler, S.
Biomedicines 10
(5): 1204.
23 May 2022
Loss-of-function variants in DNM1 cause a specific form of developmental and epileptic encephalopathy only in biallelic state.
Yigit, G., Sheffer, R., Daana, M., Li, Y., Kaygusuz, E., Mor-Shakad, H., Altmüller, J., Nürnberg, P., Douiev, L., Kaulfuss, S., Burfeind, P., Wollnik, B. and Brockmann, K.
Journal of Medical Genetics 59
(6): 549-553.
20 May 2022
Human UPF3A and UPF3B enable fault-tolerant activation of nonsense-mediated mRNA decay.
Wallmeroth, D., Lackmann, J.W., Kueckelmann, S., Altmüller, J., Dieterich, C., Boehm, V. and Gehring, N.H.
EMBO Journal 41
(10): e109191.
16 May 2022
RNA modification mapping with JACUSA2.
Piechotta, M., Naarmann-de Vries, I.S., Wang, Q., Altmüller, J. and Dieterich, C.
Genome Biology 23
(1): 115.
16 May 2022
Noncanonical function of AGO2 augments T-cell receptor signaling in T-cell prolymphocytic leukemia.
Braun, T., Stachelscheid, J., Bley, N., Oberbeck, S., Otte, M., Müller, T.A., Wahnschaffe, L., Glaß, M., Ommer, K., Franitza, M., Gathof, B., Altmüller, J., Hallek, M., Auguin, D., Hüttelmaier, S., Schrader, A. and Herling, M.
Cancer Research 82
(9): 1818-1831.
1 May 2022
Biallelic PAN2 variants in individuals with a syndromic neurodevelopmental disorder and multiple congenital anomalies.
Reuter, M.S., Zech, M., Hempel, M., Altmüller, J., Heung, T., Pölsler, L., Santer, R., Thiele, H., Trost, B., Kubisch, C., Scherer, S.W., Rudnik-Schöneborn, S., Bassett, A.S. and Lessel, D.
European Journal of Human Genetics 30
(5): 611-618.
May 2022
Phenotypic spectrum of BLM- and RMI1-related Bloom syndrome.
Gönenc, I.I., Elcioglu, N.H., Martinez Grijalva, C., Aras, S., Großmann, N., Praulich, I., Altmüller, J., Kaulfuß, S., Li, Y., Nürnberg, P., Burfeind, P., Yigit, G. and Wollnik, B.
Clinical Genetics 101
(5-6): 559-564.
May 2022
(RB1)-negative retinal organoids display proliferation of cone photoreceptors and loss of retinal differentiation.
Kanber, D., Woestefeld, J., Döpper, H., Bozet, M., Brenzel, A., Altmüller, J., Kilpert, F., Lohmann, D., Pommerenke, C. and Steenpass, L.
Cancers 14
(9): 2166.
26 April 2022
A novel missense variant of SCN4A co-segregates with congenital essential tremor in a consanguineous Kurdish family.
Asif, M., Mocanu, I.D., Abdullah, U., Höhne, W., Altmüller, J., Makhdoom, E.U.H., Thiele, H., Baig, S.M., Nürnberg, P., Graul-Neumann, L. and Hussain, M.S.
American Journal of Medical Genetics A 188
(4): 1251-1258.
April 2022
Claudin-10a deficiency shifts proximal tubular Cl(-) permeability to cation selectivity via claudin-2 redistribution.
Breiderhoff, T., Himmerkus, N., Meoli, L., Fromm, A., Sewerin, S., Kriuchkova, N., Nagel, O., Ladilov, Y., Krug, S., Quintanova, C., Stumpp, M., Garbe-Schönberg, D., Westernströer, U., Merkel, C., Brinkhus, M., Altmüller, J., Schweiger, M., Mueller, D., Mutig, K., Morawski, M., Halbritter, J., Milatz, S., Bleich, M. and Günzel, D.
Journal of the American Society of Nephrology 33
(4): 699-717.
April 2022
Characterization of Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) infection clusters based on integrated genomic surveillance, outbreak analysis and contact tracing in an urban setting.
Walker, A., Houwaart, T., Finzer, P., Ehlkes, L., Tyshaieva, A., Damagnez, M., Strelow, D., Duplessis, A., Nicolai, J., Wienemann, T., Tamayo, T., Kohns Vasconcelos, M., Hülse, L., Hoffmann, K., Lübke, N., Hauka, S., Andree, M., Däumer, M.P., Thielen, A., Kolbe-Busch, S., Göbels, K., Zotz, R., Pfeffer, K., Timm, J. and Dilthey, A.T.
Clinical Infectious Diseases 74
(6): 1039-1046.
15 March 2022
Association of ultra-rare coding variants with genetic generalized epilepsy: a case-control whole exome sequencing study.
Koko, M., Motelow, J.E., Stanley, K.E., Bobbili, D.R., Dhindsa, R.S. and May, P.
Epilepsia 63
(3): 723-735.
March 2022
Genomic variants reducing expression of two endocytic receptors in 46,XY differences of sex development.
Marko, H.L., Hornig, N.C., Betz, R.C., Holterhus, P.M., Altmüller, J., Thiele, H., Fabiano, M., Schweikert, H.U., Braun, D. and Schweizer, U.
Human Mutation 43
(3): 420-433.
March 2022
Sensitivity and specificity of loss of heterozygosity analysis for the classification of rare germline variants in BRCA1/2: results of the observational AGO-TR1 study (NCT02222883).
Hauke, J., Harter, P., Ernst, C., Burges, A., Schmidt, S., Reuss, A., Borde, J., De Gregorio, N., Dietrich, D., El-Balat, A., Kayali, M., Gevensleben, H., Hilpert, F., Altmüller, J., Heimbach, A., Meier, W., Schoemig-Markiefka, B., Thiele, H., Kimmig, R., Nürnberg, P., Kast, K., Richters, L., Sehouli, J., Schmutzler, R.K. and Hahnen, E.
Journal of Medical Genetics 59
(3): 248-252.
March 2022
MAGED2 controls vasopressin-induced aquaporin-2 expression in collecting duct cells.
Reusch, B., Bartram, M.P., Dafinger, C., Palacio-Escat, N., Wenzel, A., Fenton, R.A., Saez-Rodriguez, J., Schermer, B., Benzing, T., Altmüller, J., Beck, B.B. and Rinschen, M.M.
Journal of Proteomics 252
: 104424.
10 February 2022
Inflammation and convergent placenta gene co-option contributed to a novel reproductive tissue.
Hilgers, L., Roth, O., Nolte, A.W., Schüller, A., Spanke, T., Flury, J.M., Utama, I.V., Altmüller, J., Wowor, D., Misof, B., Herder, F., Böhne, A. and Schwarzer, J.
Current Biology 32
(3): 715-724.
7 February 2022
Familial cleft tongue caused by a unique translation initiation codon variant in TP63.
Schmidt, J., Schreiber, G., Altmüller, J., Thiele, H., Nürnberg, P., Li, Y., Kaulfuß, S., Funke, R., Wilken, B., Yigit, G. and Wollnik, B.
European Journal of Human Genetics 30
(2): 211-218.
February 2022
Genomic basis of syndromic short stature in an Algerian patient cohort.
Moosa, S., Chentli, F., Altmüller, J., Bögershausen, N., Nürnberg, P., Yigit, G., Li, Y. and Wollnik, B.
American Journal of Medical Genetics A 188
(2): 606-612.
February 2022
A growth factor-expressing macrophage subpopulation orchestrates regenerative inflammation via GDF-15.
Patsalos, A., Halasz, L., Medina-Serpas, M.A., Berger, W.K., Daniel, B., Tzerpos, P., Kiss, M., Nagy, G., Fischer, C., Simandi, Z., Varga, T. and Nagy, L.
Journal of Experimental Medicine 219
(1): e20210420.
3 January 2022
A novel homozygous synonymous variant further expands the phenotypic spectrum of POLR3A-related pathologies.
Lessel, D., Rading, K., Campbell, S.E., Thiele, H., Altmüller, J., Gordon, L.B. and Kubisch, C.
American Journal of Medical Genetics A 188
(1): 216-223.
January 2022
Micro-RNA networks in T-cell prolymphocytic leukemia reflect T-cell activation and shape DNA damage response and survival pathways.
Braun, T., Glass, M., Wahnschaffe, L., Otte, M., Mayer, P., Franitza, M., Altmüller, J., Hallek, M., Hüttelmaier, S., Schrader, A. and Herling, M.
Haematologica 107
(1): 187-200.
January 2022
Clonal dynamics of BRAF-driven drug resistance in EGFR-mutant lung cancer.
Schaufler, D., Ast, D.F., Tumbrink, H.L., Abedpour, N., Maas, L., Schwäbe, A.E., Spille, I., Lennartz, S., Fassunke, J., Aldea, M., Besse, B., Planchard, D., Nogova, L., Michels, S., Kobe, C., Persigehl, T., Westphal, T., Koleczko, S., Fischer, R., Weber, J.P., Altmüller, J., Thomas, R.K., Merkelbach-Bruse, S., Gautschi, O., Mezquita, L., Büttner, R., Wolf, J., Peifer, M., Brägelmann, J., Scheffler, M. and Sos, M.L.
npj Precision Oncology 5
(1): 102.
17 December 2021
Biallelic variants in YRDC cause a developmental disorder with progeroid features.
Schmidt, J., Goergens, J., Pochechueva, T., Kotter, A., Schwenzer, N., Sitte, M., Werner, G., Altmueller, J., Thiele, H., Nürnberg, P., Isensee, J., Li, Y., Müller, C., Leube, B., Reinhardt, H.C., Hucho, T., Salinas, G., Helm, M., Jachimowicz, R.D., Wieczorek, D., Kohl, T., Lehnart, S.E., Yigit, G. and Wollnik, B.
Human Genetics 140
(12): 1679-1693.
December 2021
Chromothripsis followed by circular recombination drives oncogene amplification in human cancer.
Rosswog, C., Bartenhagen, C., Welte, A., Kahlert, Y., Hemstedt, N., Lorenz, W., Cartolano, M., Ackermann, S., Perner, S., Vogel, W., Altmüller, J., Nürnberg, P., Hertwig, F., Göhring, G., Lilienweiss, E., Stütz, A.M., Korbel, J.O., Thomas, R.K., Peifer, M. and Fischer, M.
Nature Genetics 53
(12): 1673–1685.
December 2021
Mapping the human genetic architecture of COVID-19.
Nature 600
(7889): 472-477.
December 2021
Transposable elements and introgression introduce genetic variation in the invasive ant Cardiocondyla obscurior.
Errbii, M., Keilwagen, J., Hoff, K.J., Steffen, R., Altmüller, J., Oettler, J. and Schrader, L.
Molecular Ecology 30
(23): 6211-6228.
December 2021
Variant profiling of colorectal adenomas from three patients of two families with MSH3-related adenomatous polyposis.
Perne, C., Peters, S., Cartolano, M., Horpaopan, S., Grimm, C., Altmüller, J., Sommer, A.K., Hillmer, A.M., Thiele, H., Odenthal, M., Möslein, G., Adam, R., Sivalingam, S., Kirfel, J., Schweiger, M.R., Peifer, M., Spier, I. and Aretz, S.
PLoS ONE 16
(11): e0259185.
29 November 2021
R-loops trigger the release of cytoplasmic ssDNAs leading to chronic inflammation upon DNA damage.
Chatzidoukaki, O., Stratigi, K., Goulielmaki, E., Niotis, G., Akalestou-Clocher, A., Gkirtzimanaki, K., Zafeiropoulos, A., Altmüller, J., Topalis, P. and Garinis, G.A.
Science Advances 7
(47): eabj5769.
19 November 2021
Early IFN-α signatures and persistent dysfunction are distinguishing features of NK cells in severe COVID-19.
Krämer, B., Knoll, R., Bonaguro, L., ToVinh, M., Raabe, J., Astaburuaga-García, R., Schulte-Schrepping, J., Kaiser, K.M., Rieke, G.J., Bischoff, J., Monin, M.B., Hoffmeister, C., Schlabe, S., De Domenico, E., Reusch, N., Händler, K., Reynolds, G., Blüthgen, N., Hack, G., Finnemann, C., Nischalke, H.D., Strassburg, C.P., Stephenson, E., Su, Y., Gardner, L., Yuan, D., Chen, D., Goldman, J., Rosenstiel, P., Schmidt, S.V., Latz, E., Hrusovsky, K., Ball, A.J., Johnson, J.M., Koenig, P.A., Schmidt, F.I., Haniffa, M., Heath, J.R., Kümmerer, B.M., Keitel, V., Jensen, B., Stubbemann, P., Kurth, F., Sander, L.E., Sawitzki, B., Aschenbrenner, A.C., Schultze, J.L. and Nattermann, J.
Immunity 54
(11): 2650-2669.
9 November 2021
Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies.
Iqbal, M., Maroofian, R., Çavdarlı, B., Riccardi, F., Field, M., Banka, S., Bubshait, D.K., Li, Y., Hertecant, J., Baig, S.M., Dyment, D., Efthymiou, S., Abdullah, U., Makhdoom, E.U.H., Ali, Z., Scherf de Almeida, T, Molinari, F., Mignon-Ravix, C., Chabrol, B., Antony, J., Ades, L., Pagnamenta, A.T., Jackson, A., Douzgou, S., Beetz, C., Karageorgou, V., Vona, B., Rad, A., Baig, J.M., Sultan, T., Alvi, J.R., Maqbool, S., Rahman, F., Toosi, M.B., Ashrafzadeh, F., Imannezhad, S., Karimiani, E.G., Sarwar, Y., Khan, S., Jameel, M., Noegel, A.A., Budde, B., Altmüller, J., Motameny, S., Höhne, W., Houlden, H., Nürnberg, P., Wollnik, B., Villard, L., Alkuraya, F.S., Osmond, M., Hussain, M.S. and Yigit, G.
Genetics in Medicine 23
(11): 2138-2149.
November 2021
mTOR-activating mutations in RRAGD are causative for kidney tubulopathy and cardiomyopathy.
Schlingmann, K.P., Jouret, F., Shen, K., Nigam, A., Arjona, F., Dafinger, C., Houillier, P., Jones, D., Kleinerüschkamp, F., Oh, J., Godefroid, N., Eltan, M., Güran, T., Burtey, S., Parotte, M.C., König, J., Braun, A., Bos, C., Serra, M.I., Rehmann, H., Zwartkruis, F., Renkema, K., Klingel, K., Schulze-Bahr, E., Schermer, B., Bergmann, C., Altmüller, J., Thiele, H., Beck, B., Dahan, K., Sabatini, D., Liebau, M., Vargas-Poussou, R., Knoers, N., Konrad, M. and de Baaij, J.
Journal of the American Society of Nephrology 32
(11): 2885-2899.
November 2021
RNA polymerase II is required for spatial chromatin reorganization following exit from mitosis.
Zhang, S., Übelmesser, N., Josipovic, N., Forte, G., Slotman, J.A., Chiang, M., Gothe, H.J., Gusmao, E.G., Becker, C., Altmüller, J., Houtsmuller, A.B., Roukos, V., Wendt, K.S., Marenduzzo, D. and Papantonis, A.
Science Advances 7
(43): eabg8205.
22 October 2021
In-depth cell-free DNA sequencing reveals genomic landscape of Hodgkin’s lymphoma and facilitates ultrasensitive residual disease detection.
Sobesky, S., Mammadova, L., Cirillo, M., Drees, E.E.E., Mattlener, J., Dörr, H., Altmüller, J., Shi, Z., Bröckelmann, P.J., Weiss, J., Kreissl, S., Sasse, S., Ullrich, R.T., Reinke, S., Klapper, W., Gerhard-Hartmann, E., Rosenwald, A., Roemer, M.G.M., Nürnberg, P., Hagenbeek, A., Zijlstra, J.M., Pegtel, D.M., Engert, A., Borchmann, P., von Tresckow, B. and Borchmann, S.
Med 2
(10): 1171-1193.
8 October 2021
A homozygous AKNA frameshift variant is associated with microcephaly in a Pakistani family.
Waseem, S.S., Moawia, A., Budde, B., Tariq, M., Khan, A., Ali, Z., Khan, S., Iqbal, M., Malik, N.A., Haque, S.U., Altmüller, J., Thiele, H., Hussain, M.S., Cirak, S., Baig, S.M. and Nürnberg, P.
Genes 12
(10): 1494.
October 2021
ANK3 related neurodevelopmental disorders: expanding the spectrum of heterozygous loss-of-function variants.
Kloth, K., Lozic, B., Tagoe, J., Hoffer, M.J.V., Van der Ven, A., Thiele, H., Altmüller, J., Kubisch, C., Au, P.Y.B., Denecke, J., Bijlsma, E.K. and Lessel, D.
Neurogenetics 22
(4): 263-269.
October 2021
Human brain organoids assemble functionally integrated bilateral optic vesicles.
Gabriel, E., Albanna, W., Pasquini, Gi., Ramani, A., Josipovic, N., Mariappan, A., Schinzel, F., Karch, C.M., Bao, G., Gottardo, M., Suren, A.A., Hescheler, J., Nagel-Wolfrum, K., Persico, V., Rizzoli, S.O., Altmüller, J., Riparbelli, M.G., Callaini, G., Goureau, O., Papantonis, A., Busskamp, V., Schneider, T. and Gopalakrishnan, J.
Cell Stem Cell 28
(10): 1740-1757.e8.
October 2021
Increased risk of severe clinical course of COVID-19 in carriers of HLA-C*04:01.
Weiner, J., Suwalski, P., Holtgrewe, M., Rakitko, A., Thibeault, C., Müller, M., Patriki, D., Quedenau, C., Krüger, U., Ilinsky, V., Popov, I., Balnis, J., Jaitovich, A., Helbig, E.T., Lippert, L.J., Stubbemann, P., Real, L.M., Macías, J., Pineda, J.A., Fernandez-Fuertes, M., Wang, X., Karadeniz, Z., Saccomanno, J., Doehn, J.M., Hübner, R.H., Hinzmann, B., Salvo, M., Blueher, A., Siemann, S., Jurisic, S., Beer, J.H., Rutishauser, J., Wiggli, B., Schmid, H., Danninger, K., Binder, R., Corman, V.M., Mühlemann, B., Arjun Arkal, R., Fragiadakis, G.K., Mick, E., Calfee, C.S., Erle, D.J., Hendrickson, C.M., Kangelaris, K.N., Krummel, M.F., Woodruff, P.G., Langelier, C.R., Venkataramani, U., García, F., Zyla, J., Drosten, C., Braun, A., Jones, T.C., Suttorp, N., Witzenrath, M., Hippenstiel, S., Zemojtel, T., Skurk, C., Wolfgang, P., Borodina, T., Ripke, S., Sander, L.E., Beule, D., Landmesser, U., Guettouche, T., Kurth, F. and Heidecker, B.
EClinicalMedicine 40
: 101099.
October 2021
MFSD2A-associated primary microcephaly - expanding the clinical and mutational spectrum of this ultra-rare disease.
Khuller, K., Yigit, G., Martínez Grijalva, C., Altmüller, J., Thiele, H., Nürnberg, P., Elcioglu, N.H., Yeter, B., Hehr, U., Stein, A., Della Marina, A., Köninger, A., Depienne, C., Kaiser, F.J., Wollnik, B. and Kuechler, A.
European Journal of Medical Genetics 64
(10): 104310.
October 2021
Mitochondrial respiratory chain function promotes extracellular matrix integrity in cartilage.
Bubb, K., Holzer, T., Nolte, J.L., Krüger, M., Wilson, R., Schlötzer-Schrehardt, U., Brinckmann, J., Altmüller, J., Aszodi, A., Fleischhauer, L., Clausen-Schaumann, H., Probst, K. and Brachvogel, B.
Journal of Biological Chemistry 297
(4): 101224.
October 2021
Altered DNA methylation profiles in SF3B1 mutated CLL patients.
Pacholewska, A., Grimm, C., Herling, C.D., Lienhard, M., Königs, A., Timmermann, B., Altmüller, J., Mücke, O., Reinhardt, H.C., Plass, C., Herwig, R., Hallek, M. and Schweiger, M.R.
International Journal of Molecular Sciences 22
(17): 9337.
1 September 2021
An identical-by-descent novel splice-donor variant in PRUNE1 causes a neurodevelopmental syndrome with prominent dystonia in two consanguineous Sudanese families.
Koko, M., Yahia, A., Elsayed, L.E., Hamed, A.A., Mohammed, I.N., Elseed, M.A., Hamad, M.H.A., Babai, A.M., Siddig, R.A., Abd Allah, A.S.I., Mohamed, M., El-Amin, M., Esteves, T., Altmüller, J., Toliat, M.R., Thiele, H., Nürnberg, P., Salih, M.A., Ahmed, A.E., Lerche, H. and Stevanin, G.
Annals of Human Genetics 85
(5): 186-195.
September 2021
Nuclei isolation from adult mouse kidney for single-nucleus RNA-sequencing.
Leiz, J., Hinze, C., Boltengagen, A., Braeuning, C., Kocks, C., Rajewsky, N. and Schmidt-Ott, K.M.
Journal of Visualized Experiments
(175): e62901.
September 2021
ENHANCED GRAVITROPISM 2 encodes a STERILE ALPHA MOTIF–containing protein that controls root growth angle in barley and wheat.
Kirschner, G.K., Rosignoli, S., Guo, L., Vardanega, I., Imani, J., Altmüller, J., Milner, S.G., Balzano, R:, Nagel, K.A., Pflugfelder, D., Forestan, C., Bovina, R., Koller, R., Stöcker, T.G., Mascher, M., Simmonds, J., Uauy, C., Schoof, H., Tuberosa, R., Salvi, S. and Hochholdinger, F.
Proceedings of the National Academy of Sciences of the United States of America 118
(35): e2101526118.
31 August 2021
Long-lived macrophage reprogramming drives spike protein-mediated inflammasome activation in COVID-19.
Theobald, S.J., Simonis, A., Georgomanolis, T., Kreer, C., Zehner, M., Eisfeld, H.S., Albert, M.C., Chhen, J., Motameny, S., Erger, F., Fischer, J., Malin, J.J., Gräb, J., Winter, S., Pouikli, A., David, F., Böll, B., Koehler, P., Vanshylla, K., Gruell, H., Suárez, I., Hallek, M., Fätkenheuer, G., Jung, N., Cornely, O.A., Lehmann, C., Tessarz, P., Altmüller, J., Nürnberg, P., Kashkar, H., Klein, F., Koch, M. and Rybniker, J.
EMBO Molecular Medicine 13
(8): e14150.
9 August 2021
Biallelic mutations in L-dopachrome tautomerase (DCT) cause infantile nystagmus and oculocutaneous albinism.
Volk, A.E., Hedergott, A., Preising, M., Rading, S., Fricke, J., Herkenrath, P., Nürnberg, P., Altmüller, J., von Ameln, S., Lorenz, B., Neugebauer, A., Karsak, M. and Kubisch, C.
Human Genetics 140
(8): 1157-1168.
August 2021
Coregulation of gene expression by White collar 1 and phytochrome in Ustilago maydis.
Brych, A., Haas, F.B., Parzefall, K., Panzer, S., Schermuly, J., Altmüller, J., Engelsdorf, T., Terpitz, U., Rensing, S.A., Kiontke, S. and Batschauer, A.
Fungal Genetics and Biology 152
: 103570.
July 2021
Cystatin M/E variant causes autosomal dominant keratosis follicularis spinulosa decalvans by dysregulating cathepsins L and V.
Eckl, K.M., Gruber, R., Brennan, L., Marriott, A., Plank, R., Moosbrugger-Martinz, V., Blunder, S., Schossig, A., Altmüller, J., Thiele, H., Nürnberg, P., Zschocke, J., Hennies, H.C. and Schmuth, M.
Frontiers in Genetics 12
: 689940.
July 2021
Niche stiffening compromises hair follicle stem cell potential during ageing by reducing bivalent promoter accessibility.
Koester, J., Miroshnikova, Y.A., Ghatak, S., Chacón-Martínez, C.A., Morgner, J., Li, X., Atanassov, I., Altmüller, J., Birk, D.E., Koch, M., Bloch, W., Bartusel, M., Niessen, C.M., Rada-Iglesias, A. and Wickström, S.A.
Nature Cell Biology 23
(7): 771-781.
July 2021
Post-COVID syndrome in non-hospitalised patients with COVID-19: a longitudinal prospective cohort study.
Augustin, M., Schommers, P., Stecher, M., Dewald, F., Gieselmann, L., Gruell, H., Horn, C., Vanshylla, K., Cristanziano, V.D., Osebold, L., Roventa, M., Riaz, T., Tschernoster, N., Altmueller, J., Rose, L., Salomon, S., Priesner, V., Luers, J.C., Albus, C., Rosenkranz, S., Gathof, B., Fätkenheuer, G., Hallek, M., Klein, F., Suárez, I. and Lehmann, C.
The Lancet Regional Health - Europe 6
: 100122.
July 2021
Single cell transcriptome sequencing on the Nanopore platform with ScNapBar.
Wang, Q., Boenigk, S., Boehm, V., Gehring, N.H., Altmueller, J. and Dieterich, C.
RNA 27
(7): 763-770.
July 2021
SMG5-SMG7 authorize nonsense-mediated mRNA decay by enabling SMG6 endonucleolytic activity.
Boehm, V., Kueckelmann, S., Gerbracht, J.V., Kallabis, S., Britto-Borges, T., Altmüller, J., Krüger, M., Dieterich, C. and Gehring, N.H.
Nature Communications 12
(1): 3965.
25 June 2021
Swarm Learning for decentralized and confidential clinical machine learning.
Warnat-Herresthal, S., Schultze, H., Shastry, K.L., Manamohan, S., Mukherjee, S., Garg, V., Sarveswara, R., Händler, K., Pickkers, P., Aziz, N.A., Ktena, S., Tran, F., Bitzer, M., Ossowski, S., Casadei, N., Herr, C., Petersheim, D., Behrends, U., Kern, F., Fehlmann, T., Schommers, P., Lehmann, C., Augustin, M., Rybniker, J., Altmüller, J., Mishra, N., Bernardes, J.P., Krämer, B., Bonaguro, L., Schulte-Schrepping, J., De Domenico, E., Siever, C., Kraut, M., Desai, M., Monnet, B., Saridaki, M., Siegel, C.M., Drews, A., Nuesch-Germano, M., Theis, H., Heyckendorf, J., Schreiber, S., Kim-Hellmuth, S., Nattermann, J., Skowasch, D., Kurth, I., Keller, A., Bals, R., Nürnberg, P., Rieß, O., Rosenstiel, P., Netea, M.G., Theis, F., Mukherjee, S., Backes, M., Aschenbrenner, A.C., Ulas, T., Breteler, M.M.B., Giamarellos-Bourboulis, E.J., Kox, M., Becker, M., Cheran, S., Woodacre, M.S., Goh, E.L. and Schultze, J.L.
Nature 594
(7862): 265-270.
10 June 2021
HMGB1 coordinates SASP-related chromatin folding and RNA homeostasis on the path to senescence.
Sofiadis, K., Josipovic, N., Nikolic, M., Kargapolova, Y., Übelmesser, N., Varamogianni-Mamatsi, V., Zirkel, A., Papadionysiou, I., Loughran, G., Keane, J., Michel, A., Gusmao, E.G., Becker, C., Altmüller, J., Georgomanolis, T., Mizi, A. and Papantonis, A.
Molecular Systems Biology 17
(6): e9760.
1 June 2021
Overarching control of autophagy and DNA damage response by CHD6 revealed by modeling a rare human pathology.
Kargapolova, Y., Rehimi, R., Kayserili, H., Brühl, J., Sofiadis, K., Zirkel, A., Palikyras, S., Mizi, A., Li, Y., Yigit, G., Hoischen, A., Frank, S., Russ, N., Trautwein, J., van Bon, B., Gilissen, C., Laugsch, M., Gusmao, E.G., Josipovic, N., Altmüller, J., Nürnberg, P., Längst, G., Kaiser, F.J., Watrin, E., Brunner, H., Rada-Iglesias, A., Kurian, L., Wollnik, B., Bouazoune, K. and Papantonis, A.
Nature Communications 12
(1): 3014.
21 May 2021
Clinical and genetic characterization of PYROXD1-related myopathy patients from Turkey.
Daimagüler, H.S., Akpulat, U., Özdemir, Ö., Yis, U., Güngör, S., Talim, B., Diniz, G., Baydan, F., Thiele, H., Altmüller, J., Nürnberg, P. and Cirak, S.
American Journal of Medical Genetics A 185
(6): 1678-1690.
14 May 2021
Expanding the spectrum of FAT1 nephropathies by novel mutations that affect hippo signaling.
Fabretti, F., Tschernoster, N., Erger, F., Hedergott, A., Buescher, A.K., Dafinger, C., Reusch, B., Köntges, V.K., Kohl, S., Bartram, M.P., Weber, L.T., Thiele, H., Altmueller, J., Schermer, B., Beck, B.B. and Habbig, S.
Kidney International Reports 6
(5): 1368-1378.
May 2021
Homozygous nonsense mutation of WTN10B gene in a Moroccan family with split-hand foot malformation identified by exome sequencing: a case report.
Elalaoui, S.C., Fejjal, N., Li, Y., Thiele, H., Altmüller, J., Guaoua, S., Nürnberg, P., Wollnik, B., Sefiani, A. and Ratbi, I.
Pan African Medical Journal 39
: 21.
May 2021
Maternal angiotensin increases placental leptin in early gestation via an alternative renin-angiotensin system pathway: suggesting a link to preeclampsia.
Nonn, O., Fischer, C., Geisberger, S., El-Heliebi, A., Kroneis, T., Forstner, D., Desoye, G., Staff, A.C., Sugulle, M., Dechend, R., Pecks, U., Kollmann, M., Stern, C., Cartwright, J.E., Whitley, G.S., Thilaganathan, B., Wadsack, C., Huppertz, B., Herse, F. and Gauster, M.
Hypertension 77
(5): 1723-1736.
May 2021
Modifier genes in microcephaly: a report on WDR62, CEP63, RAD50 and PCNT variants exacerbating disease caused by biallelic mutations of ASPM and CENPJ.
Makhdoom, E.U.H., Waseem, S.S., Iqbal, M., Abdullah, U., Hussain, G., Asif, M., Budde, B., Höhne, W., Tinschert, S., Saadi, S.M., Yousaf, H., Ali, Z., Fatima, A., Kaygusuz, E., Khan, A., Jameel, M., Khan, S., Tariq, M., Anjum, I., Altmüller, J., Thiele, H., Höning, S., Baig, S.M., Nürnberg, P. and Hussain, M.S.
Genes 12
(5): 731.
May 2021
Transcriptome of iPSC-derived neuronal cells reveals a module of co-expressed genes consistently associated with autism spectrum disorder.
Griesi-Oliveira, K., Fogo, M.S., Pinto, B.G.G., Alves, A.Y., Suzuki, A.M., Morales, A.G., Ezquina, S., Sosa, O.J., Sutton, G.J., Sunaga-Franze, D.Y., Bueno, A.P., Seabra, G., Sardinha, L., Costa, S.S., Rosenberg, C., Zachi, E.C., Sertie, A.L., Martins-de-Souza, D., Reis, E.M., Voineagu, I. and Passos-Bueno, M.R.
Molecular Psychiatry 26
(5): 1589-1605.
May 2021
Genomic variants causing mitochondrial dysfunction are common in hereditary lower motor neuron disease.
Keller, N., Paketci, C., Altmueller, J., Fuhrmann, N., Wunderlich, G., Schrank, B., Unver, O., Yilmaz, S., Boostani, R., Karimiani, E.G., Motameny, S., Thiele, H., Nürnberg, P., Maroofian, R., Yis, U., Wirth, Br. and Karakaya, M.
Human Mutation 42
(4): 460-472.
April 2021
Intellectual disability associated with craniofacial dysmorphism, cleft palate, and congenital heart defect due to a de novo MEIS2 mutation: a clinical longitudinal study.
Gangfuß, A., Yigit, G., Altmüller, J., Nürnberg, P., Czeschik, J.C., Wollnik, B., Bögershausen, N., Burfeind, P., Wieczorek, D., Kaiser, F., Roos, A., Kölbel, H., Schara-Schmidt, U. and Kuechler, A.
American Journal of Medical Genetics A 185
(4): 1216-1221.
April 2021
A novel remitting leukodystrophy associated with a variant in FBP2.
Gizak, A., Diegmann, S., Dreha-Kulaczewski, S., Wiśniewski, J., Duda, P., Ohlenbusch, A., Huppke, B., Henneke, M., Höhne, W., Altmüller, J., Thiele, H., Nürnberg, P., Rakus, D., Gärtner, J. and Huppke, P.
Brain Communications 3
(2): fcab036.
11 March 2021
CALINCA - a novel pipeline for the identification of lncRNAs in podocyte disease.
Talyan, S., Filipów, S., Ignarski, M., Smieszek, M., Chen, H., Kühne, L., Butt, L., Göbel, H., Hoyer-Allo, K.J.R., Koehler, F.C., Altmüller, J., Brinkkötter, P., Schermer, B., Benzing, T., Kann, M., Müller, R.U. and Dieterich, C.
Cells 10
(3): 692.
March 2021
MTBP phosphorylation controls DNA replication origin firing.
Ferreira, P., Höfer, V., Kronshage, N., Marko, A., Reusswig, K.U., Tetik, B., Dießel, C., Köhler, K., Tschernoster, N., Altmüller, J., Schulze, N., Pfander, B. and Boos, D.
Scientific Reports 11
(1): 4242.
19 February 2021
De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis.
Weng, P.L., Majmundar, A.J., Khan, K., Lim, T.Y., Shril, S., Jin, G., Musgrove, J., Wang, M., Ahram, D.F., Aggarwal, V.S., Bier, L.E., Heinzen, E.L., Onuchic-Whitford, A.C., Mann, N., Buerger, F., Schneider, R., Deutsch, K., Kitzler, T.M., Klämbt, V., Kolb, A., Mao, Y., Moufawad El Achkar, C., Mitrotti, A., Martino, J., Beck, B.B., Altmüller, J., Benz, M.R., Yano, S., Mikati, M.A., Gunduz, T., Cope, H., Shashi, V., Trachtman, H., Bodria, M., Caridi, G., Pisani, I., Fiaccadori, E., AbuMaziad, A.S., Martinez-Agosto, J.A., Yadin, O., Zuckerman, J., Kim, A., John-Kroegel, U., Tyndall, A.V., Parboosingh, J.S., Innes, A.M., Bierzynska, A., Koziell, A.B., Muorah, M., Saleem, M.A., Hoefele, J., Riedhammer, K.M., Gharavi, A.G., Jobanputra, V., Pierce-Hoffman, E., Seaby, E.G., O'Donnell-Luria, A., Rehm, H.L., Mane, S., D'Agati, V.D., Pollak, M.R., Ghiggeri, G.M., Lifton, R.P., Goldstein, D.B., Davis, E.E., Hildebrandt, F. and Sanna-Cherchi, S.
American Journal of Human Genetics 108
(2): 357-367.
4 February 2021
hiPSC-derived epidermal keratinocytes from ichthyosis patients show altered expression of cornification markers.
Lima Cunha, D., Oram, A., Gruber, R., Plank, R., Lingenhel, A., Gupta, M.K., Altmüller, J., Nürnberg, P., Schmuth, M., Zschocke, J., Šarić, T., Eckl, K.M. and Hennies, H.C.
International Journal of Molecular Sciences 22
(4): 1785.
2 February 2021
Heterozygous truncating variants in SUFU cause congenital ocular motor apraxia.
Schröder, S., Li, Y., Yigit, G., Altmüller, J., Bader, I., Bevot, A., Biskup, S., Dreha-Kulaczewski, S., Korenke, C.G., Kottke, R., Mayr, J.A., Preisel, M., Toelle, S.P., Wente-Schulz, S., Wortmann, S.B., Hahn, H., Boltshauser, E., Uhmann, A., Wollnik, B. and Brockmann, K.
Genetics in Medicine 23
(2): 341-351.
February 2021
Disease severity-specific neutrophil signatures in blood transcriptomes stratify COVID-19 patients.
Aschenbrenner, A.C., Mouktaroudi, M., Krämer, B., Oestreich, M., Antonakos, N., Nuesch-Germano, M., Gkizeli, K., Bonaguro, L., Reusch, N., Baßler, K., Saridaki, M., Knoll, R., Pecht, T., Kapellos, T.S., Doulou, S., Kröger, C., Herbert, M., Holsten, L., Horne, A., Gemünd, I.D., Rovina, N., Agrawal, S., Dahm, K., van Uelft, M., Drews, A., Lenkeit, L., Bruse, N., Gerretsen, J., Gierlich, J., Becker, M., Händler, K., Kraut, M., Theis, H., Mengiste, S., Domenico, E., Schulte-Schrepping, J., Seep, L., Raabe, J., Hoffmeister, C., ToVinh, M., Keitel, V., Rieke, G., Talevi, V., Skowasch, D., Aziz, N.A., Pickkers, P., van de Veerdonk, F.L., Netea, M.G., Schultze, J.L., Kox, M., Breteler, M.M.B., Nattermann, J., Koutsoukou, A., Giamarellos-Bourboulis, E.J. and Ulas, T.
Genome Medicine 13
(1): 7.
13 January 2021
Dissecting herpes simplex virus 1-induced host shutoff at the RNA level.
Friedel, C.C., Whisnant, A.W., Djakovic, L., Rutkowski, A.J., Friedl, M.S., Kluge, M., Williamson, J.C., Sai, S., Vidal, R.O., Sauer, S., Hennig, T., Grothey, A., Milić, A., Prusty, B.K., Lehner, P.J., Matheson, N.J., Erhard, F. and Dölken, L.
Journal of Virology 95
(3): e01399-20.
13 January 2021
Ion transporter NKCC1, modulator of neurogenesis in murine olfactory neurons.
Haering, C., Kanageswaran, N., Bouvain, P., Scholz, P., Altmüller, J., Becker, C., Gisselmann, G., Wäring-Bischof, J. and Hatt, H.
Journal of Biological Chemistry 290
(15): 9767-9779.
4 January 2021
An autochthonous mouse model of Myd88- and BCL2-driven diffuse large B-cell lymphoma reveals actionable molecular vulnerabilities.
Flümann, R., Rehkämper, T., Nieper, P., Pfeiffer, P., Holzem, A., Klein, S., Bhatia, S., Kochanek, M., Kisis, I., Pelzer, B.W., Ahlert, H., Hauer, J., da Palma Guerreiro, A., Ryan, J.A., Reimann, M., Riabinska, A., Wiederstein, J., Krüger, M., Deckert, M., Altmüller, J., Klatt, A.R., Frenzel, L.P., Pasqualucci, L., Béguelin, W., Melnick, A.M., Sander, S., Montesinos-Rongen, M., Brunn, A., Lohneis, P., Büttner, R., Kashkar, H., Borkhardt, A., Letai, A., Persigehl, T., Peifer, M., Schmitt, C.A., Reinhardt, H.C. and Knittel, G.
Blood Cancer Discovery 2
(1): 70-91.
January 2021
Ultra-rapid emergency genomic diagnosis of Donahue syndrome in a preterm infant within 17 hours.
Bamborschke, D., Özdemir, Ö., Kreutzer, M., Motameny, S., Thiele, H., Kribs, A., Dötsch, J., Altmüller, J., Nürnberg, P. and Cirak, S.
American Journal of Medical Genetics A 185
(1): 90-96.
January 2021
Genetic information from discordant sibling pairs points to ESRP2 as a candidate trans-acting regulator of the CF modifier gene SCNN1B.
Becker, T., Pich, A., Tamm, S., Hedtfeld, S., Ibrahim, M., Altmüller, J., Dalibor, N., Toliat, M.R., Janciauskiene, S., Tümmler, B. and Stanke, F.
Scientific Reports 10
(1): 22447.
31 December 2020
Noncanonical effector functions of the T-memory-like T-PLL cell are shaped by cooperative TCL1A and TCR signaling.
Oberbeck, S., Schrader, A., Warner, K., Jungherz, D., Crispatzu, G., von Jan, J., Chmielewski, M., Ianevski, A., Diebner, H.H., Mayer, P., Kondo Ados, A., Wahnschaffe, L., Braun, T., Müller, T.A., Wagle, P., Bouska, A., Neumann, T., Pützer, S., Varghese, L., Pflug, N., Thelen, M., Makalowski, J., Riet, N., Göx, H.J.M, Rappl, G., Altmüller, J., Kotrová, M., Persigehl, T., Hopfinger, G., Hansmann, M.L., Schlößer, H., Stilgenbauer, S., Dürig, J., Mougiakakos, D., von Bergwelt-Baildon, M., Roeder, I., Hartmann, S., Hallek, M., Moriggl, R., Brüggemann, M., Aittokallio, T., Iqbal, J., Newrzela, S., Abken, H. and Herling, M.
Blood 136
(24): 2786-2802.
10 December 2020
Evidence of pathogenicity for the leaky splice variant c.1066-6T>G in ATM.
Schröder, S., Wieland, B., Ohlenbusch, A., Yigit, G., Altmüller, J., Boltshauser, E., Dörk, T. and Brockmann, K.
American Journal of Medical Genetics A 182
(12): 2971-2975.
December 2020
De novo mutations in FBRSL1 cause a novel recognizable malformation and intellectual disability syndrome.
Ufartes, R., Berger, H., Till, K., Salinas, G., Sturm, M., Altmüller, J., Nürnberg, P., Thiele, H., Funke, R., Apeshiotis, N., Langen, H., Wollnik, B., Borchers, A. and Pauli, S.
Human Genetics 139
(11): 1363-1379.
November 2020
Determination of primary microRNA processing in clinical samples by targeted pri-miR-sequencing.
Conrad, T., Ntini, E., Lang, B., Cozzuto, L., Andersen, J.B., Marquardt, J.U., Ponomarenko, J., Tartaglia, G.G. and Vang Orom, U.A.
RNA 26
(11): 1726-1730.
November 2020
Intestinal expression of toll-like receptor gene changes early after gastric bypass surgery and association with type 2 diabetes remission.
Sala, P., Torrinhas, R.S.M.M., Fonseca, D.C., Machado, N.M., Singer, J., Singer, P., Ravacci, G.R., Belarmino, G., Ferreira, B.A.M., Marques, M., Ishida, R.K., Guarda, I.F.M.S., de Moura, E.G.H., Sakai, P., Santo, M.A., Sunaga, D.Y., Heymsfield, S.B., Bezerra, D.P.D.S., Corrêa-Giannella, M.L. and Waitzberg, D.L.
Nutrition 79-80
: 110885.
November 2020
A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome.
Drivas, T.G., Li, D., Nair, D., Alaimo, J.T., Alders, M., Altmüller, J., Barakat, T.S., Bebin, E.M., Bertsch, N.L., Blackburn, P.R., Blesson, A., Bouman, A.M., Brockmann, K., Brunelle, P., Burmeister, M., Cooper, G.M., Denecke, J., Dieux-Coëslier, A., Dubbs, H., Ferrer, A., Gal, D., Bartik, L.E., Gunderson, L.B., Hasadsri, L., Jain, M., Karimov, C., Keena, B., Klee, E.W., Kloth, K., Lace, B., Macchiaiolo, M., Marcadier, J.L., Milunsky, J.M., Napier, M.P., Ortiz-Gonzalez, X.R., Pichurin, P.N., Pinner, J., Powis, Z., Prasad, C., Radio, F.C., Rasmussen, K.J., Renaud, D.L., Rush, E.T., Saunders, C., Selcen, D., Seman, A.R., Shinde, D.N., Smith, E.D., Smol, T., Snijders Blok, L., Stoler, J.M., Tang, S., Tartaglia, M., Thompson, M.L., van de Kamp, J.M., Wang, J., Weise, D., Weiss, K., Woitschach, R., Wollnik, B., Yan, H., Zackai, E.H., Zampino, G., Campeau, P. and Bhoj, E.
European Journal of Human Genetics 28
(10): 1422-1431.
October 2020
Analysis of driver mutational hot spots in blood-derived cell-free DNA of patients with primary central nervous system lymphoma obtained before intracerebral biopsy.
Montesinos-Rongen, M., Brunn, A., Tuchscherer, A., Borchmann, P., Schorb, E., Kasenda, B., Altmüller, J., Illerhaus, G., Ruge, M.I., Maarouf, M., Büttner, R., Hansmann, M.L., Hallek, M., Prinz, M., Siebert, R. and Deckert, M.
Journal of Molecular Diagnostics 22
(10): 1300-1307.
October 2020
Long-term data on two sisters with C3GN due to an identical, homozygous CFH mutation and autoantibodies.
Hackl, A., Erger, F., Skerka, C., Wenzel, A., Tschernoster, N., Ehren, R., Burgmaier, K., Riehmer, V., Licht, C., Kirschfink, M., Weber, L.T., Altmueller, J., Zipfel, P.F. and Habbig, S.
Clinical Nephrology 94
(4): 197-206.
October 2020
Viral cGAMP nuclease reveals the essential role of DNA sensing in protection against acute lethal virus infection.
Hernáez, B., Alonso, G., Georgana, I., El-Jesr, M., Martín, R., Shair, K.H.Y., Fischer, C., Sauer, S., Maluquer de Motes, C. and Alcamí, A.
Science Advances 6
(38): eabb4565.
18 September 2020
Intronic CRISPR repair in a preclinical model of Noonan syndrome-associated cardiomyopathy.
Hanses, U., Kleinsorge, M., Roos, L., Yigit, G., Li, Y., Barbarics, B., El-Battrawy, I., Lan, H., Tiburcy, M., Hindmarsh, R., Lenz, C., Salinas, G., Diecke, S., Müller, C., Adham, I., Altmüller, J., Nürnberg, P., Paul, T., Zimmermann, W.H., Hasenfuss, G., Wollnik, B. and Cyganek, L.
Circulation 142
(11): 1059-1076.
15 September 2020
Characterization of circulating breast cancer cells with tumorigenic and metastatic capacity.
Koch, C., Kuske, A., Joosse, S.A., Yigit, G., Sflomos, G., Thaler, S., Smit, D.J., Werner, S., Borgmann, K., Gärtner, S., Mossahebi Mohammadi, P., Battista, L., Cayrefourcq, L., Altmüller, J., Salinas-Riester, G., Raithatha, K., Zibat, A., Goy, Y., Ott, L., Bartkowiak, K., Tan, T.Z., Zhou, Q., Speicher, M.R., Müller, V., Gorges, T.M., Jücker, M., Thiery, J.P., Brisken, C., Riethdorf, S., Alix-Panabières, C. and Pantel, K.
EMBO Molecular Medicine 12
(9): e11908.
7 September 2020
CASC3 promotes transcriptome-wide activation of nonsense-mediated decay by the exon junction complex.
Gerbracht, J.V., Boehm, V., Britto-Borges, T., Kallabis, S., Wiederstein, J.L., Ciriello, S., Aschemeier, D.U., Krüger, M., Frese, C.K., Altmüller, J., Dieterich, C. and Gehring, N.H.
Nucleic Acids Research 48
(15): 8626-8644.
4 September 2020
Resolving fates and single-cell transcriptomes of hematopoietic stem cell clones by PolyloxExpress barcoding.
Pei, W., Shang, F., Wang, X., Fanti, A.K., Greco, A., Busch, K., Klapproth, K., Zhang, Q., Quedenau, C., Sauer, S., Feyerabend, T.B., Höfer, T. and Rodewald, H.R.
Cell Stem Cell 27
(3): 383-395.
3 September 2020
Exome sequencing in 38 patients with intracranial aneurysms and subarachnoid hemorrhage.
Sauvigny, T., Alawi, M., Krause, L., Renner, S., Spohn, M., Busch, A., Kolbe, V., Altmüller, J., Löscher, B.S., Franke, A., Brockmann, C., Lieb, W., Westphal, M., Schmidt, N.O., Regelsberger, J. and Rosenberger, G.
Journal of Neurology 267
(9): 2533-2545.
September 2020
Maximizing transcription of nucleic acids with efficient T7 promoters.
Conrad, T., Plumbom, I., Alcobendas, M., Vidal, R. and Sauer, S.
Communications Biology 3
(1): 439.
14 August 2020
MCH neurons regulate permeability of the median eminence barrier.
Jiang, H., Gallet, S., Klemm, P., Scholl, P., Folz-Donahue, K., Altmüller, J., Alber, J., Heilinger, C., Kukat, C., Loyens, A., Müller-Fielitz, H., Sundaram, S., Schwaninger, M., Prevot, V. and Brüning, J.C.
Neuron 107
(2): 306-319.
22 July 2020
Mutations in SREBF1, encoding sterol regulatory element binding transcription factor 1, cause autosomal-dominant IFAP syndrome.
Wang, H., Humbatova, A., Liu, Y., Qin, W., Lee, M., Cesarato, N., Kortüm, F., Kumar, S., Romano, M.T., Dai, S., Mo, R., Sivalingam, S., Motameny, S., Wu, Y., Wang, X., Niu, X., Geng, S., Bornholdt, D., Kroisel, P.M., Tadini, G., Walter, S.D., Hauck, F., Girisha, K.M., Calza, A.M., Bottani, A., Altmüller, J., Buness, A., Yang, S., Sun, X., Ma, L., Kutsche, K., Grzeschik, K.H., Betz, R.C. and Lin, Z.
American Journal of Human Genetics 107
(1): 34-45.
2 July 2020
Comprehensive molecular analysis of 61 Egyptian families with hereditary nonsyndromic hearing loss.
Budde, B.S., Aly, M.A., Mohamed, M.R., Breß, A., Altmüller, J., Motameny, S., Kawalia, A., Thiele, H., Konrad, K., Becker, C., Toliat, M.R., Nürnberg, G., Sayed, E.A.F., Mohamed, E.S., Pfister, M. and Nürnberg, P.
Clinical Genetics 98
(1): 32-42.
July 2020
cfNOMe - a single assay for comprehensive epigenetic analyses of cell-free DNA.
Erger, F., Nörling, D., Borchert, D., Leenen, E., Habbig, S., Wiesener, M.S., Bartram, M.P., Wenzel, A., Becker, C., Toliat, M.R., Nürnberg, P., Beck, B.B. and Altmüller, J.
Genome Medicine 12
(1): 54.
24 June 2020
Benchmarking single-cell RNA-sequencing protocols for cell atlas projects.
Mereu, E., Lafzi, A., Moutinho, C., Ziegenhain, C., McCarthy, D.J., Álvarez-Varela, A., Batlle, E., Sagar, Grün, D., Lau, J.K., Boutet, S.C., Sanada, C., Ooi, A., Jones, R.C., Kaihara, K., Brampton, C., Talaga, Y., Sasagawa, Y., Tanaka, K., Hayashi, T., Braeuning, C., Fischer, C., Sauer, S., Trefzer, T., Conrad, C., Adiconis, X., Nguyen, L.T., Regev, A., Levin, J.Z., Parekh, S., Janjic, A., Wange, L.E., Bagnoli, J.W., Enard, W., Gut, M., Sandberg, R., Nikaido, I., Gut, I., Stegle, O. and Heyn, H.
Nature Biotechnology 38
(6): 747-755.
June 2020
Cell type-specific transcriptomics of esophageal adenocarcinoma as a scalable alternative for single cell transcriptomics.
Krämer, M., Plum, P.S., Velazquez Camacho, O., Folz-Donahue, K., Thelen, M., Garcia-Marquez, I., Wölwer, C., Büsker, S., Wittig, J., Franitza, M., Altmüller, J., Löser, H., Schlößer, H., Büttner, R., Schröder, W., Bruns, C.J., Alakus, H., Quaas, A., Chon, S.H. and Hillmer, A.M.
Molecular Oncology 14
(6): 1170-1184.
June 2020
Association of germline variant status with therapy response in high-risk early-stage breast cancer: a secondary analysis of the GeparOcto randomized clinical trial.
Pohl-Rescigno, E., Hauke, J., Loibl, S., Möbus, V., Denkert, C., Fasching, P.A., Kayali, M., Ernst, C., Weber-Lassalle, N., Hanusch, C., Tesch, H., Müller, V., Altmüller, J., Thiele, H., Untch, M., Lübbe, K., Nürnberg, P., Rhiem, K., Furlanetto, J., Lederer, B., Jackisch, C., Nekljudova, V., Schmutzler, R.K., Schneeweiss, A. and Hahnen, E.
JAMA Oncology 6
(5): 744-748.
May 2020
Reconstruction of rearranged T-cell receptor loci by whole genome and transcriptome sequencing gives insights into the initial steps of T-cell prolymphocytic leukemia.
Patil, P., Cieslak, A., Bernhart, S.H., Toprak, U.H., Wagener, R., López, C., Wiehle, L., Bens, S., Altmüller, J., Franitza, M., Scholz, I., Jayne, S., Ahearne, M.J., Scheffold, A., Jebaraj, B.M.C., Schneider, C., Costa, D., Braun, T., Schrader, A., Campo, E., Dyer, M.J.S., Nürnberg, P., Dürig, J., Johansson, P., Böttcher, S., Schlesner, M., Herling, M., Stilgenbauer, S., Macintyre, E. and Siebert, R.
Genes Chromosomes & Cancer 59
(4): 261-267.
April 2020
The integrated RNA landscape of renal preconditioning against ischemia-reperfusion injury.
Johnsen, M., Kubacki, T., Yeroslaviz, A., Späth, M.R., Mörsdorf, J., Göbel, H., Bohl, K., Ignarski, M., Meharg, C., Habermann, B., Altmüller, J., Beyer, A., Benzing, T., Schermer, B., Burst, V. and Müller, R.U.
Journal of the American Society of Nephrology 31
(4): 716-730.
April 2020
The genomic and clinical landscape of fetal akinesia.
Pergande, M., Motameny, S., Özdemir, Ö., Kreutzer, M., Wang, H., Daimagüler, H.S., Becker, K., Karakaya, M., Ehrhardt, H., Elcioglu, N., Ostojic, S., Chao, C.M., Kawalia, A., Duman, Ö., Koy, A., Hahn, A., Reimann, J., Schoner, K., Schänzer, A., Westhoff, J.H., Schwaibold, E.M.C., Cossee, M., Imbert-Bouteille, M., von Pein, H., Haliloglu, G., Topaloglu, H., Altmüller, J., Nürnberg, P., Thiele, H., Heller, R. and Cirak, S.
Genetics in Medicine 22
(3): 511-523.
March 2020
The recurrent postzygotic pathogenic variant p.Glu47Lys in RHOA causes a novel recognizable neuroectodermal phenotype.
Yigit, G., Saida, K., DeMarzo, D., Miyake, N., Fujita, A., Yang Tan, T., White, S.M., Wadley, A., Toliat, M.R., Motameny, S., Franitza, M., Stutterd, C.A., Chong, P.F., Kira, R., Sengoku, T., Ogata, K., Guillen Sacoto, M.J., Fresen, C., Beck, B.B., Nürnberg, P., Dieterich, C., Wollnik, B., Matsumoto, N. and Altmüller, J.
Human Mutation 41
(3): 591-599.
March 2020
Self-organizing 3D human trunk neuromuscular organoids.
Faustino Martins, J.M., Fischer, C., Urzi, A., Vidal, R., Kunz, S., Ruffault, P.L., Kabuss, L., Hube, I., Gazzerro, E., Birchmeier, C., Spuler, S., Sauer, S. and Gouti, M.
Cell Stem Cell 26
(2): 172-186.
6 February 2020
A novel mutation in PIGA associated with multiple congenital anomalies-hypotonia-seizure syndrome 2 (MCAHS2) in a boy with a combination of severe epilepsy and gingival hyperplasia.
Neuhofer, C.M., Funke, R., Wilken, B., Knaus, A., Altmüller, J., Nürnberg, P., Li, Y., Wollnik, B., Burfeind, P. and Pauli, S.
Molecular Syndromology 11
(1): 30-37.
February 2020
Tissue-infiltrating macrophages mediate an exosome-based metabolic reprogramming upon DNA damage.
Goulielmaki, E., Ioannidou, A., Tsekrekou, M., Stratigi, K., Poutakidou, I.K., Gkirtzimanaki, K., Aivaliotis, M., Evangelou, K., Topalis, P., Altmüller, J., Gorgoulis, V.G., Chatzinikolaou, G. and Garinis, G.A.
Nature Communications 11
(1): 42.
2 January 2020
Effects of diets high in animal or plant protein on oxidative stress in individuals with type 2 diabetes: a randomized clinical trial.
Pivovarova-Ramich, O., Markova, M., Weber, D., Sucher, S., Hornemann, S., Rudovich, N., Raila, J., Sunaga-Franze, D., Sauer, S., Rohn, S., Pfeiffer, A.F.H. and Grune, T.
Redox Biology 29
(2): 101397.
January 2020
Tracheal brush cells release acetylcholine in response to bitter tastants for paracrine and autocrine signaling.
Hollenhorst, M.I., Jurastow, I., Nandigama, R., Appenzeller, S., Li, L., Vogel, J., Wiederhold, S., Althaus, M., Empting, M., Altmüller, J., Hirsch, A.K.H., Flockerzi, V., Canning, B.J., Saliba, A.E. and Krasteva-Christ, G.
FASEB Journal 34
(1): 316-332.
January 2020
A protocol for laser microdissection (LMD) followed by transcriptome analysis of plant reproductive tissue in phylogenetically distant angiosperms.
Kivivirta, K., Herbert, D., Lange, M., Beuerlein, K., Altmüller, J. and Becker, A.
Plant Methods 15
: 151.
16 December 2019
Transcriptional heterogeneity of fibroblasts is a hallmark of the aging heart.
Vidal, R., Wagner, J.U.G., Braeuning, C., Fischer, C., Patrick, R., Tombor, L., Muhly-Reinholz, M., John, D., Kliem, M., Conrad, T., Guimarães-Camboa, N., Harvey, R., Dimmeler, S. and Sauer, S.
JCI Insight 4
(22): e131092.
14 November 2019
De novo mutations in FOXJ1 result in a motile ciliopathy with hydrocephalus and randomization of left/right body asymmetry.
Wallmeier, J., Frank, D., Shoemark, A., Nöthe-Menchen, T., Cindric, S., Olbrich, H., Loges, N.T., Aprea, I., Dougherty, G.W., Pennekamp, P., Kaiser, T., Mitchison, H.M., Hogg, C., Carr, S.B., Zariwala, M.A., Ferkol, T., Leigh, M.W., Davis, S.D., Atkinson, J., Dutcher, S.K., Knowles, M.R., Thiele, H., Altmüller, J., Krenz, H., Wöste, M., Brentrup, A., Ahrens, F., Vogelberg, C., Morris-Rosendahl, D.J. and Omran, H.
American Journal of Human Genetics 105
(5): 1030-1039.
7 November 2019
Assessment of genetic variant burden in epilepsy-associated brain lesions.
Niestroj, L.M., May, P., Artomov, M., Kobow, K., Coras, R., Pérez-Palma, E., Altmüller, J., Thiele, H., Nürnberg, P., Leu, C., Palotie, A., Daly, M.J., Klein, K.M., Beschorner, R., Weber, Y.G., Blümcke, I. and Lal, D.
European Journal of Human Genetics 27
(11): 1738-1744.
November 2019
Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3.
Florian, R.T., Kraft, F., Leitão, E., Kaya, S., Klebe, S., Magnin, E., van Rootselaar, A.F., Buratti, J., Kühnel, T., Schröder, C., Giesselmann, S., Tschernoster, N., Altmüller, J., Lamiral, A., Keren, B., Nava, C., Bouteiller, D., Forlani, S., Jornea, L., Kubica, R., Ye, T., Plassard, D., Jost, B., Meyer, V., Deleuze, J.F., Delpu, Y., Avarello, M.D.M., Vijfhuizen, L.S., Rudolf, G., Hirsch, E., Kroes, T., Reif, P.S., Rosenow, F., Ganos, C., Vidailhet, M., Thivard, L., Mathieu, A., Bourgeron, T., Kurth, I., Rafehi, H., Steenpass, L., Horsthemke, B., LeGuern, E., Klein, K.M., Labauge, P., Bennett, M.F., Bahlo, M., Gecz, J., Corbett, M.A., Tijssen, M.A.J, van den Maagdenberg, A.M.J.M. and Depienne, C.
Nature Communications 10
(1): 4919.
29 October 2019
Autosomal-recessive mutations in MESD cause osteogenesis imperfecta.
Moosa, S., Yamamoto, G.L., Garbes, L., Keupp, K., Beleza-Meireles, A., Moreno, C.A., Valadares, E.R., de Sousa, S.B., Maia, S., Saraiva, J., Honjo, R.S., Kim, C.A., Cabral de Menezes, H., Lausch, E., Lorini, P.V., Lamounier, A., Carniero, T.C.B., Giunta, C., Rohrbach, M., Janner, M., Semler, O., Beleggia, F., Li, Y., Yigit, G., Reintjes, N., Altmüller, J., Nürnberg, P., Cavalcanti, D.P., Zabel, B., Warman, M.L., Bertola, D.R., Wollnik, B. and Netzer, C.
American Journal of Human Genetics 105
(4): 836-843.
3 October 2019
Biallelic mutation of human SLC6A6 encoding the taurine transporter TAUT is linked to early retinal degeneration.
Preising, M.N., Görg, B., Friedburg, C., Qvartskhava, N., Budde, B.S., Bonus, M., Toliat, M.R., Pfleger, C., Altmüller, J., Herebian, D., Beyer, M., Zöllner, H.J., Wittsack, H.J., Schaper, J., Klee, D., Zechner, U., Nürnberg, P., Schipper, J., Schnitzler, A., Gohlke, H., Lorenz, B., Häussinger, D. and Bolz, H.J.
FASEB Journal 33
(10): 11507-11527.
October 2019
Deleterious somatic variants in 473 consecutive individuals with ovarian cancer: results of the observational AGO-TR1 study (NCT02222883).
Hauke, J., Hahnen, E., Schneider, S., Reuss, A., Richters, L., Kommoss, S., Heimbach, A., Marmé, F., Schmidt, S., Prieske, K., Gevensleben, H., Burges, A., Borde, J., De Gregorio, N., Nürnberg, P., El-Balat, A., Thiele, H., Hilpert, F., Altmüller, J., Meier, W., Dietrich, D., Kimmig, R., Schoemig-Markiefka, B., Kast, K., Braicu, E., Baumann, K., Jackisch, C., Park-Simon, T.W., Ernst, C., Hanker, L., Pfisterer, J., Schnelzer, A., du Bois, A., Schmutzler, R.K. and Harter, P.
Journal of Medical Genetics 56
(9): 574-580.
September 2019
SSBP1 mutations in dominant optic atrophy with variable retinal degeneration.
Jurkute, N., Leu, C., Pogoda, H.M., Arno, G., Robson, A.G., Nürnberg, G., Altmüller, J., Thiele, H., Motameny, S., Toliat, M.R., Powell, K., Höhne, W., Michaelides, M., Webster, A.R., Moore, A.T., Hammerschmidt, M., Nürnberg, P., Yu-Wai-Man, P. and Votruba, M.
Annals of Neurology 86
(3): 368-383.
September 2019
Integrative and comparative genomic analyses identify clinically relevant pulmonary carcinoid groups and unveil the supra-carcinoids.
Alcala, N., Leblay, N., Gabriel, A.A.G., Mangiante, L., Hervas, D., Giffon, T., Sertier, A.S., Ferrari, A., Derks, J., Ghantous, A., Delhomme, T.M., Chabrier, A., Cuenin, C., Abedi-Ardekani, B., Boland, A., Olaso, R., Meyer, V., Altmuller, J., Le Calvez-Kelm, F., Durand, G., Voegele, C., Boyault, S., Moonen, L., Lemaitre, N., Lorimier, P., Toffart, A.C., Soltermann, A., Clement, J.H., Saenger, J., Field, J.K., Brevet, M., Blanc-Fournier, C., Galateau-Salle, F., Le Stang, N., Russell, P.A., Wright, G., Sozzi, G., Pastorino, U., Lacomme, S., Vignaud, J.M., Hofman, V., Hofman, P., Brustugun, O.T., Lund-Iversen, M., Thomas de Montpreville, V., Muscarella, L.A., Graziano, P., Popper, H., Stojsic, J., Deleuze, J.F., Herceg, Z., Viari, A., Nuernberg, P., Pelosi, G., Dingemans, A.M.C., Milione, M., Roz, L., Brcic, L., Volante, M., Papotti, M.G., Caux, C., Sandoval, J., Hernandez-Vargas, H., Brambilla, E., Speel, E.J.M., Girard, N., Lantuejoul, S., McKay, J.D., Foll, M. and Fernandez-Cuesta, L.
Nature Communications 10
(1): 3407.
20 August 2019
Mutations in PIGB cause an inherited GPI biosynthesis defect with an axonal neuropathy and metabolic abnormality in severe cases.
Murakami, Y., Nguyen, T.T.M., Baratang, N., Raju, P.K., Knaus, A., Ellard, S., Jones, G., Lace, B., Rousseau, J., Ajeawung, N.F., Kamei, A., Minase, G., Akasaka, M., Araya, N., Koshimizu, E., van den Ende, J., Erger, F., Altmüller, J., Krumina, Z., Strautmanis, J., Inashkina, I., Stavusis, J., El-Gharbawy, A., Sebastian, J., Puri, R.D., Kulshrestha, S., Verma, I.C., Maier, E.M., Haack, T.B., Israni, A., Baptista, J., Gunning, A., Rosenfeld, J.A, Liu, P., Joosten, M., Rocha, M.E., Hashem, M.O., Aldhalaan, H.M., Alkuraya, F.S., Miyatake, S., Matsumoto, N., Krawitz, P.M., Rossignol, E., Kinoshita, T. and Campeau, P.M.
American Journal of Human Genetics 105
(2): 384-394.
1 August 2019
Specific chromatin changes mark lateral organ founder cells in the Arabidopsis inflorescence meristem.
Frerichs, A., Engelhorn, J., Altmüller, J., Gutierrez-Marcos, J. and Werr, W.
Journal of Experimental Botany 70
(15): 3867-3879.
1 August 2019
Biallelic variant in AGTPBP1 causes infantile lower motor neuron degeneration and cerebellar atrophy.
Karakaya, M., Paketci, C., Altmueller, J., Thiele, H., Hoelker, I., Yis, U. and Wirth, B.
American Journal of Medical Genetics Part A 179
(8): 1580-1584.
August 2019
Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients.
Renner, S., Schüler, H., Alawi, M., Kolbe, V., Rybczynski, M., Woitschach, R., Sheikhzadeh, S., Stark, V.C., Olfe, J., Roser, E., Seggewies, F.S., Mahlmann, A., Hempel, M., Hartmann, M.J., Hillebrand, M., Wieczorek, D., Volk, A.E., Kloth, K., Koch-Hogrebe, M., Abou Jamra, R.i, Mitter, D., Altmüller, J., Wey-Fabrizius, A., Petersen, C., Rau, I., Borck, G., Kubisch, C., Mir, T.S., von Kodolitsch, Y., Kutsche, K. and Rosenberger, G.
Genetics in Medicine 21
(8): 1832-1841.
August 2019
Novel mutations in KMT2B offer pathophysiological insights into childhood-onset progressive dystonia.
Dafsari, H.S., Sprute, R., Wunderlich, G., Daimagüler, H.S., Karaca, E., Contreras, A., Becker, K., Schulze-Rhonhof, M., Kiening, K., Karakulak, T., Kloss, M., Horn, A., Pauls, A., Nürnberg, P., Altmüller, J., Thiele, H., Assmann, B., Koy, A. and Cirak, S.
Journal of Human Genetics 64
(8): 803-813.
August 2019
R-spondin-3 induces secretory, antimicrobial Lgr5(+) cells in the stomach.
Sigal, M., Del Mar Reinés, M., Müllerke, S., Fischer, C., Kapalczynska, M., Berger, H., Bakker, E.R.M., Mollenkopf, H.J., Rothenberg, M.E., Wiedenmann, B., Sauer, S. and Meyer, T.F.
Nature Cell Biology 21
(7): 812-823.
July 2019
Calcyphosine-like (CAPSL) is regulated in multiple symmetric lipomatosis and is involved in adipogenesis.
Lindner, A., Marbach, F., Tschernitz, S., Ortner, C., Berneburg, M., Felthaus, O., Prantl, L., Kye, M.J., Rappl, G., Altmüller, J., Thiele, H., Schreml, S. and Schreml, J.
Scientific Reports 9
(1): 8444.
11 June 2019
Gain-of-function mutations in KCNN3 encoding the small-conductance Ca(2+)-activated K(+) channel SK3 cause Zimmermann-Laband syndrome.
Bauer, C.K., Schneeberger, P.E., Kortüm, F., Altmüller, J., Santos-Simarro, F., Baker, L., Keller-Ramey, J., White, S.M., Campeau, P.M., Gripp, K.W. and Kutsche, K.
American Journal of Human Genetics 104
(6): 1139-1157.
6 June 2019
HSPA6: s new autosomal recessive candidate gene for the VATER/VACTERL malformation spectrum.
Kause, F., Zhang, R., Ludwig, M., Schmiedeke, E., Rissmann, A., Thiele, H., Altmueller, J., Herms, S., Hilger, A.C., Hildebrandt, F. and Reutter, H.
Birth Defects Research 111
(10): 591-597.
1 June 2019
Multiregion human bladder cancer sequencing reveals tumour evolution, bladder cancer phenotypes and implications for targeted therapy.
Heide, T., Maurer, A., Eipel, M., Knoll, K., Geelvink, M., Veeck, J., Knuechel, R., van Essen, J., Stoehr, R., Hartmann, A., Altmueller, J., Graham, T.A. and Gaisa, N.T.
Journal of Pathology 248
(2): 230-242.
June 2019
Signals trigger state-specific transcriptional programs to support diversity and homeostasis in immune cells.
Fischer, C., Metsger, M., Bauch, S., Vidal, R., Böttcher, M., Grote, P., Kliem, M. and Sauer, S.
Science Signaling 12
(581): eaao5820.
14 May 2019
Rare variants in BNC2 are implicated in autosomal-dominant congenital lower urinary-tract obstruction.
Kolvenbach, C.M., Dworschak, G.C., Frese, S., Japp, A.S., Schuster, P., Wenzlitschke, N., Yilmaz, Ö., Lopes, F.M., Pryalukhin, A., Schierbaum, L., van der Zanden, L.F.M., Kause, F., Schneider, R., Taranta-Janusz, K., Szczepańska, M., Pawlaczyk, K., Newman, W.G., Beaman, G.M., Stuart, H.M., Cervellione, R.M., Feitz, W.F.J., van Rooij, I.A.L.M., Schreuder, M.F., Steffens, M., Weber, S., Merz, W.M., Feldkötter, M., Hoppe, B., Thiele, H., Altmüller, J., Berg, C., Kristiansen, G., Ludwig, M., Reutter, H., Woolf, A.S., Hildebrandt, F., Grote, P., Zaniew, M., Odermatt, B. and Hilger, A.C.
American Journal of Human Genetics 104
(5): 994-1006.
2 May 2019
Germline loss-of-function variants in the BARD1 gene are associated with early-onset familial breast cancer but not ovarian cancer.
Weber-Lassalle, N., Borde, J., Weber-Lassalle, K., Horváth, J., Niederacher, D., Arnold, N., Kaulfuß, S., Ernst, C., Paul, V.G., Honisch, E., Klaschik, K., Volk, A.E., Kubisch, C., Rapp, S., Lichey, N., Altmüller, J., Lepkes, L., Pohl-Rescigno, E., Thiele, H., Nürnberg, P., Larsen, M., Richters, L., Rhiem, K., Wappenschmidt, B., Engel, C., Meindl, A., Schmutzler, R.K., Hahnen, E. and Hauke, J.
Breast Cancer Research 21
(1): 55.
29 April 2019
Loss of Msh2 and a single-radiation hit induce common, genome-wide, and persistent epigenetic changes in the intestine.
Herberg, M., Siebert, S., Quaas, M., Thalheim, T., Rother, K., Hussong, M., Altmüller, J., Kerner, C., Galle, J., Schweiger, M.R. and Aust, G.
Clinical Epigenetics 11
(1): 65.
27 April 2019
The discovery of a LEMD2-associated nuclear envelopathy with early progeroid appearance suggests advanced applications for AI-driven facial phenotyping.
Marbach, F., Rustad, C.F., Riess, A., Đukić, D., Hsieh, T.C., Jobani, I., Prescott, T., Bevot, A., Erger, F., Houge, G., Redfors, M., Altmueller, J., Stokowy, T., Gilissen, C., Kubisch, C., Scarano, E., Mazzanti, L., Fiskerstrand, T., Krawitz, P.M., Lessel, D. and Netzer, C.
American Journal of Human Genetics 104
(4): 749-757.
4 April 2019
Homozygosity for the c.428delG variant in KIAA0586 in a healthy individual: implications for molecular testing in patients with Joubert syndrome.
Pauli, S., Altmüller, J., Schröder, S., Ohlenbusch, A., Dreha-Kulaczewski, S., Bergmann, C., Nürnberg, P., Thiele, H., Li, Y., Wollnik, B. and Brockmann, K.
Journal of Medical Genetics 56
(4): 261-264.
April 2019
Novel PNKP mutations causing defective DNA strand break repair and PARP1 hyperactivity in MCSZ.
Kalasova, I., Hanzlikova, H., Gupta, N., Li, Y., Altmüller, J., Reynolds, J.J., Stewart, G.S., Wollnik, B., Yigit, G. and Caldecott, K.W.
Neurology Genetics 5
(2): e320.
April 2019
m(6)A-mRNA methylation regulates cardiac gene expression and cellular growth.
Kmietczyk, V., Riechert, E., Kalinski, L., Boileau, E., Malovrh, E., Malone, B., Gorska, A., Hofmann, C., Varma, E., Jürgensen, L., Kamuf-Schenk, V., Altmüller, J., Tappu, R., Busch, M., Most, P., Katus, H.A., Dieterich, C. and Völkers, M.
Life Science Alliance 2
(2): e201800233.
April 2019
Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly.
Lahrouchi, N., George, A., Ratbi, I., Schneider, R., Elalaoui, S.C., Moosa, S., Bharti, S., Sharma, R., Abu-Asab, M., Onojafe, F., Adadi, N., Lodder, E.M., Laarabi, F.Z., Lamsyah, Y., Elorch, H., Chebbar, I., Postma, A.V., Lougaris, V., Plebani, A., Altmueller, J., Kyrieleis, H., Meiner, V., McNeill, H., Bharti, K., Lyonnet, S., Wollnik, B., Henrion-Caude, A., Berraho, A., Hildebrandt, F., Bezzina, C.R., Brooks, B.P. and Sefiani, A.
Nature Communications 10
(1): 1180.
12 March 2019
Combined targeted resequencing of cytosine DNA methylation and mutations of DNA repair genes with potential use for poly(ADP-ribose) polymerase 1 inhibitor sensitivity testing.
Grimm, C., Fischer, A., Farrelly, A.M., Kalachand, R., Castiglione, R., Wasserburger, E., Hussong, M., Schultheis, Anne M, Altmüller, J., Thiele, H., Reinhardt, H.C., Hauschulz, K., Hennessy, B.T., Herwig, R., Lienhard, M., Buettner, R. and Schweiger, M.R.
Journal of Molecular Diagnostics 21
(2): 198-213.
March 2019
Genome-wide patterns of transposon proliferation in an evolutionary young hybrid fish.
Dennenmoser, S., Sedlazeck, F.J., Schatz, M.C, Altmüller, J., Zytnicki, M. and Nolte, A.W.
Molecular Ecology 28
(6): 1491-1505.
March 2019
Unknown mutations and genotype/phenotype correlations of autosomal recessive congenital ichthyosis in patients from Saudi Arabia and Pakistan.
Lima Cunha, D., Alakloby, O.M., Gruber, R., Kakar, N., Ahmad, J., Alawbathani, S., Plank, R., Eckl, K., Krabichler, B., Altmüller, J., Nürnberg, P., Zschocke, J., Borck, G., Schmuth, M., Alabdulkareem, A.S., Abdulaziz Alnutaifi, K. and Hennies, H.C.
Molecular Genetics & Genomic Medicine 7
(3): e539.
March 2019
The mutational landscape of Burkitt-like lymphoma with 11q aberration is distinct from that of Burkitt lymphoma.
Wagener, R., Seufert, J., Raimondi, F., Bens, S., Kleinheinz, K., Nagel, I., Altmüller, J., Thiele, H., Hübschmann, D., Kohler, C.W., Nürnberg, P., Au-Yeung, R., Burkhardt, B., Horn, H., Leoncini, L., Jaffe, E.S., Ott, G., Rymkiewicz, G., Schlesner, M., Russell, R.B., Klapper, W. and Siebert, R.
Blood 133
(9): 962-966.
28 February 2019
The Wnt-driven Mll1 epigenome regulates salivary gland and head and neck cancer.
Zhu, Q., Fang, L., Heuberger, J., Kranz, A., Schipper, J., Scheckenbach, K., Oliveira Vidal, R., Sunaga-Franze, D.Y., Müller, M., Wulf-Goldenberg, A., Sauer, S. and Birchmeier, W.
Cell Reports 26
(2): 415-428.
8 January 2019
A virus-encoded type I interferon decoy receptor enables evasion of host immunity through cell-surface binding.
Hernáez, B., Alonso-Lobo, J.M., Montanuy, I., Fischer, C., Sauer, S., Sigal, L., Sevilla, N. and Alcamí, A.
Nature Communications 9
(1): 5440.
21 December 2018
A mechanistic classification of clinical phenotypes in neuroblastoma.
Ackermann, S., Cartolano, M., Hero, B., Welte, A., Kahlert, Y., Roderwieser, A., Bartenhagen, C., Walter, E., Gecht, J., Kerschke, L., Volland, R., Menon, R., Heuckmann, J.M., Gartlgruber, M., Hartlieb, S., Henrich, K.O., Okonechnikov, K., Altmüller, J., Nürnberg, P., Lefever, S., de Wilde, B., Sand, F., Ikram, F., Rosswog, C., Fischer, J., Theissen, J., Hertwig, F., Singhi, A.D., Simon, T., Vogel, W., Perner, S., Krug, B., Schmidt, M., Rahmann, S., Achter, V., Lang, U., Vokuhl, C., Ortmann, M., Büttner, R., Eggert, A., Speleman, F., O'Sullivan, R.J., Thomas, R.K., Berthold, F., Vandesompele, J., Schramm, A., Westermann, F., Schulte, J.H., Peifer, M. and Fischer, M.
Science 362
(6419): 1165-1170.
7 December 2018
Mechanism suppressing H3K9 trimethylation in pluripotent stem cells and its demise by polyQ-expanded huntingtin mutations.
Irmak, D., Fatima, A., Gutiérrez-Garcia, R., Rinschen, M.M., Wagle, P., Altmüller, J., Arrigoni, L., Hummel, B., Klein, C., Frese, C.K., Sawarkar, R., Rada-Iglesias, A. and Vilchez, D.
Human Molecular Genetics 27
(23): 4117-4134.
1 December 2018
Dominant SCN2A mutation causes familial episodic ataxia and impairment of speech development.
Fazeli, W., Becker, K., Herkenrath, P., Düchting, C., Körber, F., Landgraf, P., Nürnberg, P., Altmüller, J., Thiele, H., Koy, A., Liebau, M.C., Simon, T., Dötsch, J. and Cirak, S.
Neuropediatrics 49
(6): 379-384.
December 2018
Specific combinations of biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome.
Paolacci, S., Li, Y., Agolini, E., Bellacchio, E., Arboleda-Bustos, C.E., Carrero, D., Bertola, D., Al-Gazali, L., Alders, M., Altmüller, J., Arboleda, G., Beleggia, F., Bruselles, A., Ciolfi, A., Gillessen-Kaesbach, G., Krieg, T., Mohammed, S., Müller, C., Novelli, A., Ortega, J., Sandoval, A., Velasco, G., Yigit, G., Arboleda, H., Lopez-Otin, C., Wollnik, B., Tartaglia, M. and Hennekam, R.C.
Journal of Medical Genetics 55
(12): 837-846.
December 2018
IG-MYC(+) neoplasms with precursor B-cell phenotype are molecularly distinct from Burkitt lymphomas.
Wagener, R., López, C., Kleinheinz, K., Bausinger, J., Aukema, S.M., Nagel, I., Toprak, U.H., Seufert, J., Altmüller, J., Thiele, H., Schneider, C., Kolarova, J., Park, J., Hübschmann, D., Murga Penas, E.M., Drexler, H.G., Attarbaschi, A., Hovland, R., Kjeldsen, E., Kneba, M., Kontny, U., de Leval, L., Nürnberg, P., Oschlies, I., Oscier, D., Schlegelberger, B., Stilgenbauer, S., Wössmann, W., Schlesner, M., Burkhardt, B., Klapper, W., Jaffe, E.S., Küppers, R. and Siebert, R.
Blood 132
(21): 2280-2285.
22 November 2018
Bi-allelic mutations in LSS, encoding lanosterol synthase, cause autosomal-recessive hypotrichosis simplex.
Romano, M.T., Tafazzoli, A., Mattern, M., Sivalingam, S., Wolf, S., Rupp, A., Thiele, H., Altmüller, J., Nürnberg, P., Ellwanger, J., Gambon, R., Baumer, Al., Kohlschmidt, N., Metze, D., Holdenrieder, S., Paus, R., Lütjohann, D., Frank, J., Geyer, M., Bertolini, M., Kokordelis, P. and Betz, R.C.
American Journal of Human Genetics 103
(5): 777-785.
1 November 2018
Exon junction complexes suppress spurious splice sites to safeguard transcriptome integrity.
Boehm, V., Britto-Borges, T., Steckelberg, A.L., Singh, K.K., Gerbracht, J.V., Gueney, E., Blazquez, L., Altmüller, J., Dieterich, C. and Gehring, N.H.
Molecular Cell 72
(3): 482-495.
1 November 2018
Germline de novo mutations in ATP1A1 cause renal hypomagnesemia, refractory seizures, and intellectual disability.
Schlingmann, K.P., Bandulik, S., Mammen, C., Tarailo-Graovac, M., Holm, R., Baumann, M., König, J., Lee, J.J.Y., Drögemöller, B., Imminger, K., Beck, B.B., Altmüller, J., Thiele, H., Waldegger, S., Van't Hoff, W., Kleta, R., Warth, R., van Karnebeek, C.D.M., Vilsen, B., Bockenhauer, D. and Konrad, M.
American Journal of Human Genetics 103
(5): 808-816.
1 November 2018
Depletion of Nesprin-2 is associated with an embryonic lethal phenotype in mice.
Mroß, C., Marko, M., Munck, M., Glöckner, G., Motameny, S., Altmüller, J., Noegel, A.A., Eichinger, L., Peche, V.S. and Neumann, S.
Nucleus 9
(1): 503-515.
20 October 2018
Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome.
Braun, D.A., Lovric, S., Schapiro, D., Schneider, R., Marquez, J., Asif, M., Hussain, M.S., Daga, A., Widmeier, E., Rao, J., Ashraf, S., Tan, W., Lusk, C.P., Kolb, A., Jobst-Schwan, T., Schmidt, J.M., Hoogstraten, C.A., Eddy, K., Kitzler, T.M., Shril, S., Moawia, A., Schrage, K., Khayyat, A.I.A., Lawson, J.A., Gee, H.Y., Warejko, J.K., Hermle, T., Majmundar, A.J., Hugo, H., Budde, B., Motameny, S., Altmüller, J., Noegel, A. A., Fathy, H.M., Gale, D.P., Waseem, S.S., Khan, A., Kerecuk, L., Hashmi, S., Mohebbi, N., Ettenger, R., Serdaroğlu, E., Alhasan, K.A., Hashem, M., Goncalves, S., Ariceta, G., Ubetagoyena, M., Antonin, W., Baig, S.M., Alkuraya, F.S., Shen, Q., Xu, H., Antignac, C., Lifton, R.P., Mane, S., Nürnberg, P., Khokha, M.K. and Hildebrandt, F.
Journal of Clinical Investigation 128
(10): 4313-4328.
1 October 2018
Biallelic mutations in ADPRHL2, encoding ADP-ribosylhydrolase 3, lead to a degenerative pediatric stress-induced epileptic ataxia syndrome.
Ghosh, S.G., Becker, K., Huang, H., Dixon-Salazar, T., Chai, G., Salpietro, V., Al-Gazali, L., Waisfisz, Q., Wang, H., Vaux, K.K., Stanley, V., Manole, A., Akpulat, U., Weiss, M.M., Efthymiou, S., Hanna, M.G., Minetti, C., Striano, P., Pisciotta, L., De Grandis, E., Altmüller, J., Weixler, L., Nürnberg, P., Thiele, H., Yis, U., Okur, T.D., Polat, A.I., Amiri, N., Doosti, M., Karimani, E.G., Toosi, M.B., Haddad, G., Karakaya, M., Wirth, B., van Hagen, J.M., Wolf, N.I., Maroofian, R., Houlden, H., Cirak, S. and Gleeson, J.G.
American Journal of Human Genetics 103
(3): 431-439.
6 September 2018
Mutations in plasmalemma vesicle-associated protein cause severe syndromic protein-losing enteropathy.
Broekaert, I.J., Becker, K., Gottschalk, I., Körber, F., Dötsch, J., Thiele, H., Altmüller, J., Nürnberg, P., Hünseler, C. and Cirak, S.
Journal of Medical Genetics 55
(9): 637-640.
September 2018
Targeted sequencing with expanded gene profile enables high diagnostic yield in non-5q-spinal muscular atrophies.
Karakaya, M., Storbeck, M., Strathmann, E.A., Delle Vedove, A., Hölker, I., Altmueller, J., Naghiyeva, L., Schmitz-Steinkrüger, L., Vezyroglou, K., Motameny, S., Alawbathani, S., Thiele, H., Polat, A.I., Okur, D., Boostani, R., Karimiani, E.G., Wunderlich, G., Ardicli, D., Topaloglu, H., Kirschner, J., Schrank, B., Maroofian, R., Magnusson, O., Yis, U., Nürnberg, P., Heller, R. and Wirth, B.
Human Mutation 39
(9): 1284-1298.
September 2018
Rare gene deletions in genetic generalized and Rolandic epilepsies.
Jabbari, K., Bobbili, D.R., Lal, D., Reinthaler, E.M., Schubert, J., Wolking, S., Sinha, V., Motameny, S., Thiele, H., Kawalia, A., Altmüller, J., Toliat, M.R., Kraaij, R., van Rooij, J., Uitterlinden, A.G., Ikram, M.A., Zara, F., Lehesjoki, A.E., Krause, R., Zimprich, F., Sander, T., Neubauer, B.A., May, P., Lerche, H. and Nürnberg, P.
PLoS ONE 13
(8): e0202022.
27 August 2018
Mutations in TOP3A cause a bloom syndrome-like disorder.
Martin, C.A., Sarlós, K., Logan, C.V., Thakur, R.S., Parry, D.A., Bizard, A.H., Leitch, A., Cleal, L., Ali, N.S., Al-Owain, M.A., Allen, W., Altmüller, J., Aza-Carmona, M., Barakat, B.A.Y., Barraza-García, J., Begtrup, A., Bogliolo, M., Cho, M.T., Cruz-Rojo, J., Dhahrabi, H.A.M., Elcioglu, N.H., Gorman, G.S., Jobling, R., Kesterton, I., Kishita, Y., Kohda, M., Le Quesne Stabej, P., Malallah, A.J., Nürnberg, P., Ohtake, A., Okazaki, Y., Pujol, R., Ramirez, M.J., Revah-Politi, A., Shimura, M., Stevens, P., Taylor, R.W., Turner, L., Williams, H., Wilson, C., Yigit, G., Zahavich, L., Alkuraya, F.S., Surralles, J., Iglesias, A., Murayama, K., Wollnik, B., Dattani, M., Heath, K.E., Hickson, I.D. and Jackson, A.P.
American Journal of Human Genetics 103
(2): 221-231.
2 August 2018
A de novo KCNA1 mutation in a patient with tetany and hypomagnesemia.
van der Wijst, J., Konrad, M., Verkaart, S.A.J., Tkaczyk, M., Latta, F., Altmüller, J., Thiele, H., Beck, B., Schlingmann, K.P. and de Baaij, J.H.F.
Nephron 139
(4): 359-366.
August 2018
Rare coding variants in genes encoding GABA A receptors in genetic generalised epilepsies: an exome-based case-control study.
May, P., Girard, S., Harrer, M., Bobbili, D.R., Schubert, J., Wolking, S., Becker, F., Lachance-Touchette, P., Meloche, C., Gravel, M., Niturad, C.E., Knaus, J., De Kovel, C., Toliat, M., Polvi, A., Iacomino, M., Guerrero-López, R., Baulac, S., Marini, C., Thiele, H., Altmüller, J., Jabbari, K., Ruppert, A.K., Jurkowski, W., Lal, D., Rusconi, R., Cestèle, S., Terragni, B., Coombs, I.D., Reid, C.A., Striano, P., Caglayan, H., Siren, A., Everett, K., Møller, R.S., Hjalgrim, H., Muhle, H., Helbig, I., Kunz, W.S., Weber, Y.G., Weckhuysen, S., Jonghe, P.D., Sisodiya, S.M., Nabbout, R., Franceschetti, S., Coppola, A., Vari, M.S., Kasteleijn-Nolst Trenité, D., Baykan, B., Ozbek, U., Bebek, N., Klein, K.M., Rosenow, F., Nguyen, D.K., Dubeau, F., Carmant, L., Lortie, A., Desbiens, R., Clément, J.F., Cieuta-Walti, C., Sills, G.J., Auce, P., Francis, B., Johnson, M.R., Marson, A.G., Berghuis, B., Sander, J.W., Avbersek, A., McCormack, M., Cavalleri, G.L., Delanty, N., Depondt, C., Krenn, M., Zimprich, F., Peter, S., Nikanorova, M., Kraaij, R., van Rooij, J., Balling, R., Ikram, M.A., Uitterlinden, A.G., Avanzini, G., Schorge, S., Petrou, S., Mantegazza, M., Sander, T., LeGuern, E., Serratosa, J.M., Koeleman, B.P.C., Palotie, A., Lehesjoki, A.E., Nothnagel, M., Nürnberg, P., Maljevic, S., Zara, F., Cossette, P., Krause, R. and Lerche, H.
Lancet Neurology 17
(8): 699-708.
August 2018
Transient N-6-methyladenosine transcriptome sequencing reveals a regulatory role of m6A in splicing efficiency.
Louloupi, A., Ntini, E., Conrad, T. and Ørom, U.A.V.
Cell Reports 23
(12): 3429-3437.
19 June 2018
Loss of the hematopoietic stem cell factor GATA2 in the osteogenic lineage impairs trabecularization and mechanical strength of bone.
Tolkachov, A., Fischer, C., Ambrosi, T.H., Bothe, M., Han, C.T., Muenzner, M., Mathia, S., Salminen, M., Seifert, G., Thiele, M., Duda, G.N., Meijsing, S.H., Sauer, S., Schulz, T.J. and Schupp, M.
Molecular and Cellular Biology 38
(12): e00599-17.
June 2018
Neuronal activity regulates DROSHA via autophagy in spinal muscular atrophy.
Gonçalves, I.C.G., Brecht, J., Thelen, M.P., Rehorst, W.A., Peters, M., Lee, H.J., Motameny, S., Torres-Benito, L., Ebrahimi-Fakhari, D., Kononenko, N.L., Altmüller, J., Vilchez, D., Sahin, M., Wirth, B. and Kye, M.J.
Scientific Reports 8
(1): 7907.
21 May 2018
HMGB2 loss upon senescence entry disrupts genomic organization and induces CTCF clustering across cell types.
Zirkel, A., Nikolic, M., Sofiadis, K., Mallm, J.P., Brackley, C.A., Gothe, H., Drechsel, O., Becker, C., Altmüller, J., Josipovic, N., Georgomanolis, T., Brant, L., Franzen, J., Koker, M., Gusmao, E.G., Costa, I.G., Ullrich, R.T., Wagner, W., Roukos, V., Nürnberg, P., Marenduzzo, D., Rippe, K. and Papantonis, A.
Molecular Cell 70
(4): 730-744.e6.
17 May 2018
OR2H2 regulates the differentiation of human myoblast cells by its ligand aldehyde 13-13.
Kalbe, B., Osterloh, M., Schulz, V.M., Altmüller, J., Becker, C., Osterloh, S. and Hatt, H.
Archives of Biochemistry and Biophysics 645
: 72-80.
1 May 2018
Targeted resequencing reveals genomic signatures of barley domestication.
Pankin, A., Altmüller, J., Becker, C. and von Korff, M.
New Phytologist 218
(3): 1247-1259.
May 2018
Linear mitochondrial DNA is rapidly degraded by components of the replication machinery.
Peeva, V., Blei, D., Trombly, G., Corsi, S., Szukszto, M.J., Rebelo-Guiomar, P., Gammage, P.A., Kudin, A.P., Becker, C., Altmüller, J., Minczuk, M., Zsurka, G. and Kunz, W.S.
Nature Communications 9
(1): 1727.
30 April 2018
Exome sequencing in syndromic brain malformations identifies novel mutations in ACTB, and SLC9A6, and suggests BAZ1A as a new candidate gene.
Weitensteiner, V., Zhang, R., Bungenberg, J., Marks, M., Gehlen, J., Ralser, D.J., Hilger, A.C., Sharma, A., Schumacher, J., Gembruch, U., Merz, W.M., Becker, A., Altmüller, J., Thiele, H., Herrmann, B.G., Odermatt, B., Ludwig, M. and Reutter, H.
Birth Defects Research 110
(7): 587-597.
17 April 2018
Gene panel testing of 5589 BRCA1/2-negative index patients with breast cancer in a routine diagnostic setting: results of the German Consortium for Hereditary Breast and Ovarian Cancer.
Hauke, J., Horvath, J., Groß, E., Gehrig, A., Honisch, E., Hackmann, K., Schmidt, G., Arnold, N., Faust, U., Sutter, C., Hentschel, J., Wang-Gohrke, S., Smogavec, M., Weber, B.H.F., Weber-Lassalle, N., Weber-Lassalle, K., Borde, J., Ernst, C., Altmüller, J., Volk, A.E., Thiele, H., Hübbel, V., Nürnberg, P., Keupp, K., Versmold, B., Pohl, E., Kubisch, C., Grill, S., Paul, V., Herold, N., Lichey, N., Rhiem, K., Ditsch, N., Ruckert, C., Wappenschmidt, B., Auber, B., Rump, A., Niederacher, D., Haaf, T., Ramser, J., Dworniczak, B., Engel, C., Meindl, A., Schmutzler, R.K. and Hahnen, E.
Cancer Medicine 7
(4): 1349-1358.
April 2018
Integrative genomic profiling of large-cell neuroendocrine carcinomas reveals distinct subtypes of high-grade neuroendocrine lung tumors.
George, J., Walter, V., Peifer, M., Alexandrov, L.B., Seidel, D., Leenders, F., Maas, L., Müller, C., Dahmen, I., Delhomme, T.M., Ardin, M., Leblay, N., Byrnes, G., Sun, R., De Reynies, A., McLeer-Florin, A., Bosco, G., Malchers, F., Menon, R., Altmüller, J., Becker, C., Nürnberg, P., Achter, V., Lang, U., Schneider, P.M., Bogus, M., Soloway, M.G., Wilkerson, M.D., Cun, Y., McKay, J.D., Moro-Sibilot, D., Brambilla, C.G., Lantuejoul, S., Lemaitre, N., Soltermann, A., Weder, W., Tischler, V., Brustugun, O.T., Lund-Iversen, M., Helland, Å., Solberg, S., Ansén, S., Wright, G., Solomon, B., Roz, L., Pastorino, U., Petersen, I., Clement, J.H., Sänger, J., Wolf, J., Vingron, M., Zander, T., Perner, S., Travis, W.D., Haas, S.A., Olivier, M., Foll, M., Büttner, R., Hayes, D.N., Brambilla, E., Fernandez-Cuesta, L. and Thomas, R.K.
Nature Communications 9
(1): 1048.
13 March 2018
Single molecule real time sequencing in ADTKD-MUC1 allows complete assembly of the VNTR and exact positioning of causative mutations.
Wenzel, A., Altmueller, J., Ekici, A.B., Popp, B., Stueber, K., Thiele, H., Pannes, A., Staubach, S., Salido, E., Nuernberg, P., Reinhardt, R., Reis, A., Rump, P., Hanisch, F.G., Wolf, M.T.F., Wiesener, M., Huettel, B. and Beck, B.B.
Scientific Reports 8
(1): 4170.
8 March 2018
Mutations in the BAF-complex subunit DPF2 are associated with Coffin-Siris syndrome.
Vasileiou, G., Vergarajauregui, S., Endele, S., Popp, B., Büttner, C., Ekici, A.B., Gerard, M., Bramswig, N.C., Albrecht, B., Clayton-Smith, J., Morton, J., Tomkins, S., Low, K., Weber, A., Wenzel, M., Altmüller, J., Li, Y., Wollnik, B., Hoganson, G., Plona, M.R., Cho, M.T., Thiel, C.T., Lüdecke, H.J., Strom, T.M., Calpena, E., Wilkie, A.O.M., Wieczorek, D., Engel, F.B. and Reis, A.
American Journal of Human Genetics 102
(3): 468-479.
1 March 2018
How to make a tumour: cell type specific dissection of Ustilago maydis-induced tumour development in maize leaves.
Matei, A., Ernst, C., Günl, M., Thiele, B., Altmüller, J., Walbot, V., Usadel, B. and Doehlemann, G.
New Phytologist 217
(4): 1681-1695.
March 2018
Clonal dynamics towards the development of venetoclax resistance in chronic lymphocytic leukemia.
Herling, C.D., Abedpour, N., Weiss, J., Schmitt, A., Jachimowicz, R.D., Merkel, O., Cartolano, M., Oberbeck, S., Mayer, P., Berg, V., Thomalla, D., Kutsch, N., Stiefelhagen, M., Cramer, P., Wendtner, C.M., Persigehl, T., Saleh, A., Altmüller, J., Nürnberg, P., Pallasch, C., Achter, V., Lang, U., Eichhorst, B., Castiglione, R., Schäfer, S.C., Büttner, R., Kreuzer, K.A., Reinhardt, H.C., Hallek, M., Frenzel, L.P. and Peifer, M.
Nature Communications 9
(1): 727.
20 February 2018
Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.
Schrader, A., Crispatzu, G., Oberbeck, S., Mayer, P., Pützer, S., von Jan, J., Vasyutina, E., Warner, K., Weit, N., Pflug, N., Braun, T., Andersson, E.I., Yadav, B., Riabinska, A., Maurer, B., Ventura Ferreira, M.S., Beier, F., Altmüller, J., Lanasa, M., Herling, C.D., Haferlach, T., Stilgenbauer, S., Hopfinger, G., Peifer, M., Brümmendorf, T.H., Nürnberg, P., Elenitoba-Johnson, K.S.J., Zha, S., Hallek, M., Moriggl, R., Reinhardt, H.C., Stern, M.H., Mustjoki, S., Newrzela, S., Frommolt, P. and Herling, M.
Nature Communications 9
(1): 697.
15 February 2018
Olfactory receptors as biomarkers in human breast carcinoma tissues.
Weber, L., Maßberg, D., Becker, C., Altmüller, J., Ubrig, B., Bonatz, G., Wölk, G., Philippou, S., Tannapfel, A., Hatt, H. and Gisselmann, G.
Frontiers in Oncology 8
: 33.
15 February 2018
Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy.
Bobbili, D.R., Lal, D., May, P., Reinthaler, E.M., Jabbari, K., Thiele, H., Nothnagel, M., Jurkowski, W., Feucht, M., Nürnberg, P., Lerche, H., Zimprich, F., Krause, R., Neubauer, B.A., Reinthaler, E.M., Zimprich, F., Feucht, M., Steinböck, H., Neophytou, B., Geldner, J., Gruber-Sedlmayr, U., Haberlandt, E., Ronen, G.M., Altmüller, J., Lal, D., Nürnberg, P., Sander, T., Thiele, H., Krause, R., May, P., Balling, R., Lerche, H. and Neubauer, B.A.
European Journal of Human Genetics 26
(2): 258-264.
February 2018
The biotrophic development of Ustilago maydis studied by RNA-seq analysis.
Lanver, D., Müller, A.N., Happel, P., Schweizer, G., Haas, F.B., Franitza, M., Pellegrin, C., Reissmann, S., Altmüller, J., Rensing, S.A. and Kahmann, R.
Plant Cell 30
(2): 300-323.
February 2018
Whole exome sequencing identifies a mutation in EYA1 and GLI3 in a patient with branchio‑otic syndrome and esophageal atresia: Coincidence or a digenic mode of inheritance?
Kause, F., Reutter, H., Marsch, F., Thiele, H., Altmüller, J., Ludwig, M. and Zhang, R.
Molecular Medicine Reports 17
(2): 3200-3205.
February 2018
BRIP1 loss-of-function mutations confer high risk for familial ovarian cancer, but not familial breast cancer.
Weber-Lassalle, N., Hauke, J., Ramser, J., Richters, L., Groß, E., Blümcke, B., Gehrig, A., Kahlert, A.K., Müller, C.R., Hackmann, K., Honisch, E., Weber-Lassalle, K., Niederacher, D., Borde, J., Thiele, H., Ernst, C., Altmüller, J., Neidhardt, G., Nürnberg, P., Klaschik, K., Schroeder, C., Platzer, K., Volk, A.E., Wang-Gohrke, S., Just, W., Auber, B., Kubisch, C., Schmidt, G., Horvath, J., Wappenschmidt, B., Engel, C., Arnold, N., Dworniczak, B., Rhiem, K., Meindl, A., Schmutzler, R.K. and Hahnen, E.
Breast Cancer Research 20
(1): 7.
24 January 2018
Multiancestry association study identifies new asthma risk loci that colocalize with immune-cell enhancer marks.
Demenais, F., Margaritte-Jeannin, P., Barnes, K.C., Cookson, W.O.C., Altmüller, J., Ang, W., Barr, R.G., Beaty, T.H., Becker, A.B., Beilby, J., Bisgaard, H., Bjornsdottir, U.S., Bleecker, E., Bonnelykke, K., Boomsma, D.I., Bouzigon, E., Brightling, C.E., Brossard, M., Brusselle, G.G., Burchard, E., Burkart, K.M., Bush, A., Chan-Yeung, M., Chung, K.F., Couto Alves, A., Curtin, J.A., Custovic, A., Daley, D., de Jongste, J.C., Del-Rio-Navarro, B.E., Donohue, K.M., Duijts, L., Eng, C., Eriksson, J.G., Farrall, M., Fedorova, Y., Feenstra, B., Ferreira, M.A., Freidin, M.B., Gajdos, Z., Gauderman, J., Gehring, U., Geller, F., Genuneit, J., Gharib, S.A, Gilliland, F., Granell, R., Graves, P.E., Gudbjartsson, D.F., Haahtela, T., Heckbert, S.R., Heederik, D., Heinrich, J., Helioevaara, M., Henderson, J., Himes, B.E., Hirose, H., Hirschhorn, J.N., Hofman, A., Holt, P., Hottenga, J., Hudson, T.J., Hui, J., Imboden, M., Ivanov, V., Jaddoe, V.W.V., James, A., Janson, C., Jarvelin, M.R., Jarvis, D., Jones, G., Jonsdottir, I., Jousilahti, P., Kabesch, M., Kähönen, M., Kantor, D.B., Karunas, A.S., Khusnutdinova, E., Koppelman, G.H., Kozyrskyj, A.L., Kreiner, E., Kubo, M., Kumar, R., Kumar, A., Kuokkanen, M., Lahousse, L., Laitinen, T., Laprise, C., Lathrop, M., Lau, S., Lee, Y.A., Lehtimaeki, T., Letort, S., Levin, A.M., Li, G., Liang, L., Loehr, L.R., London, S.J., Loth, D.W., Manichaikul, A., Marenholz, I., Martinez, F.J., Matheson, M.C., Mathias, R.A., Matsumoto, K., Mbarek, H., McArdle, W.L., Melbye, M., Melen, E., Meyers, D., Michel, S., Mohamdi, H., Musk, A.W., Myers, R.A., Nieuwenhuis, M.A.E., Noguchi, E., O'Connor, G.T., Ogorodova, L.M., Palmer, C.D., Palotie, A., Park, J.E., Pennell, C.E., Pershagen, G., Polonikov, A., Postma, D.S., Probst-Hensch, N., Puzyrev, V.P., Raby, B.A., Raitakari, O.T., Ramasamy, A., Rich, S.S., Robertson, C.F., Romieu, I., Salam, M.T., Salomaa, V., Schluenssen, V., Scott, R., Selivanova, P.A., Sigsgaard, T., Simpson, A., Siroux, V., Smith, L.J., Solodilova, M., Standl, M., Stefansson, K., Strachan, D.P., Stricker, B.H., Takahashi, A., Thompson, P.J., Thorleifsson, G., Thorsteinsdottir, U., Tiesler, C.M.T., Torgerson, D.G., Tsunoda, T., Uitterlinden, A.G., van der Valk, R.J.P., Vaysse, A., Vedantam, S., von Berg, A., von Mutius, E., Vonk, J.M., Waage, J., Wareham, N.J., Weiss, S.T., White, W.B., Wickman, M., Widén, E., Willemsen, G., Williams, L.K., Wouters, I.M., Yang, J.J., Zhao, J.H., Moffatt, M.F., Ober, C. and Nicolae, D.L.
Nature Genetics 50
(1): 42-53.
January 2018
Late diagnosis of a truncating WISP3 mutation entails a severe phenotype of progressive pseudorheumatoid dysplasia.
Alawbathani, S., Kawalia, A., Karakaya, M., Altmüller, J., Nürnberg, P. and Cirak, S.
Cold Spring Harbor Molecular Case Studies 4
(1): a002139.
19 December 2017
A microRNA screen reveals that elevated hepatic ectodysplasin A expression contributes to obesity-induced insulin resistance in skeletal muscle.
Awazawa, M., Gabel, P., Tsaousidou, E., Nolte, H., Krüger, M., Schmitz, J., Ackermann, P.J., Brandt, C., Altmüller, J., Motameny, S., Wunderlich, F.T., Kornfeld, J.W., Blüher, M. and Brüning, J.C.
Nature Medicine 23
(12): 1466-1473.
1 December 2017
Parallel habitat acclimatization is realized by the expression of different genes in two closely related salamander species (genus Salamandra).
Goedbloed, D.J., Czypionka, T., Altmüller, J., Rodriguez, A., Küpfer, E., Segev, O., Blaustein, L., Templeton, A.R., Nolte, A.W. and Steinfartz, S.
Heredity 119
(6): 429-437.
December 2017
Exome sequencing characterizes the somatic mutation spectrum of early serrated lesions in a patient with serrated polyposis syndrome (SPS).
Horpaopan, S., Kirfel, J., Peters, S., Kloth, M., Hüneburg, R., Altmüller, J., Drichel, D., Odenthal, M., Kristiansen, G., Strassburg, C., Nattermann, J., Hoffmann, P., Nürnberg, P., Büttner, R., Thiele, H., Kahl, P., Spier, I. and Aretz, S.
Hereditary Cancer in Clinical Practice 15
: 22.
29 November 2017
De novo mutations in SLC25A24 cause a craniosynostosis syndrome with hypertrichosis, progeroid appearance, and mitochondrial dysfunction.
Ehmke, N., Graul-Neumann, L., Smorag, L., Koenig, R., Segebrecht, L., Magoulas, P., Scaglia, F., Kilic, E., Hennig, A.F., Adolphs, N., Saha, N., Fauler, B., Kalscheuer, V.M., Hennig, F., Altmüller, J., Netzer, C., Thiele, H., Nürnberg, P., Yigit, G., Jäger, M., Hecht, J., Krüger, U., Mielke, T., Krawitz, P.M., Horn, D., Schuelke, M., Mundlos, S., Bacino, C.A., Bonnen, P.E., Wollnik, B., Fischer-Zirnsak, B. and Kornak, U.
American Journal of Human Genetics 101
(5): 833-843.
2 November 2017
Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features.
Niturad, C.E., Lev, D., Kalscheuer, V.M., Charzewska, A., Schubert, J., Lerman-Sagie, T., Kroes, H.Y., Oegema, R., Traverso, M., Specchio, N., Lassota, M., Chelly, J., Bennett-Back, O., Carmi, N., Koffler-Brill, T., Iacomino, M., Trivisano, M., Capovilla, G., Striano, P., Nawara, M., Rzonca, S., Fischer, U., Bienek, M., Jensen, C., Hu, H., Thiele, H., Altmüller, J., Krause, R., May, P., Becker, F., Balling, R., Biskup, S., Haas, S.A., Nürnberg, P., van Gassen, K.L.I., Lerche, H., Zara, F., Maljevic, S. and Leshinsky-Silver, E.
Brain 140
(11): 2879-2894.
1 November 2017
Alterations in the α(2)δ ligand, thrombospondin-1, in a rat model of spontaneous absence epilepsy and in patients with idiopathic/genetic generalized epilepsies.
Santolini, I., Celli, R., Cannella, M., Imbriglio, T., Guiducci, M., Parisi, P., Schubert, J., Iacomino, M., Zara, F., Lerche, H., Moyanova, S., Ngomba, R.T., van Luijtelaar, G., Battaglia, G., Bruno, V., Striano, P. and Nicoletti, F.
Epilepsia 58
(11): 1993-2001.
November 2017
The role of de novo mutations in the development of amyotrophic lateral sclerosis.
van Doormaal, P.T.C., Ticozzi, N., Weishaupt, J.H., Kenna, K., Diekstra, F.P., Verde, F., Andersen, P.M., Dekker, A.M, Tiloca, C., Marroquin, N., Overste, D.J., Pensato, V., Nürnberg, P., Pulit, S.L., Schellevis, R.D., Calini, D., Altmüller, J., Francioli, L.C., Muller, B., Castellotti, B., Motameny, S., Ratti, A., Wolf, J., Gellera, C., Ludolph, A.C., van den Berg, L.H., Kubisch, C., Landers, J.E., Veldink, J.H., Silani, V. and Volk, A.E.
Human Mutation 38
(11): 1534-1541.
November 2017
A TUBB6 mutation is associated with autosomal dominant non-progressive congenital facial palsy, bilateral ptosis and velopharyngeal dysfunction.
Fazeli, W., Herkenrath, P., Stiller, B., Neugebauer, A., Fricke, J., Lang-Roth, R., Nürnberg, G., Thoenes, M., Becker, J., Altmüller, J., Volk, A.E., Kubisch, C. and Heller, R.
Human Molecular Genetics 26
(20): 4055-4066.
15 October 2017
Activating de novo mutations in NFE2L2 encoding NRF2 cause a multisystem disorder.
Huppke, P., Weissbach, S., Church, J.A., Schnur, R., Krusen, M., Dreha-Kulaczewski, S., Kühn-Velten, W.N., Wolf, A., Huppke, B., Millan, F., Begtrup, A., Almusafri, F., Thiele, H., Altmüller, J., Nürnberg, P., Müller, M. and Gärtner, J.
Nature Communications 8
(1): 818.
10 October 2017
Germline mutation status, pathological complete response, and disease-free survival in triple-negative breast cancer: secondary analysis of the GeparSixto randomized clinical trial.
Hahnen, E., Lederer, B., Hauke, J., Loibl, S., Kröber, S., Schneeweiss, A., Denkert, C., Fasching, P.A., Blohmer, J.U., Jackisch, C., Paepke, S., Gerber, B., Kümmel, S., Schem, C., Neidhardt, G., Huober, J., Rhiem, K., Costa, S., Altmüller, J., Hanusch, C., Thiele, H., Müller, V., Nürnberg, P., Karn, T., Nekljudova, V., Untch, M., von Minckwitz, G. and Schmutzler, R.K.
JAMA Oncology 3
(10): 1378-1385.
1 October 2017
A new CUL4B variant associated with a mild phenotype and an exceptional pattern of leukoencephalopathy.
Weissbach, S., Reinert, M.C., Altmüller, J., Krätzner, R., Thiele, H., Rosenbaum, T., Nürnberg, P. and Gärtner, J.
American Journal of Medical Genetics Part A 173
(10): 2803-2807.
October 2017
Copy number increases of transposable elements and protein-coding genes in an invasive fish of hybrid origin.
Dennenmoser, S., Sedlazeck, F.J., Iwaszkiewicz, E., Li, X.Y., Altmüller, J. and Nolte, A.W.
Molecular Ecology 26
(18): 4712-4724.
26 September 2017
CDK10 mutations in humans and mice cause severe growth retardation, spine malformations, and developmental delays.
Windpassinger, C., Piard, J., Bonnard, C., Alfadhel, M., Lim, S., Bisteau, X., Blouin, S., Ali, N.A.B., Ng, A.Y.J., Lu, H., Tohari, S., Talib, S.Z.A., van Hul, N., Caldez, M.J., Van Maldergem, L., Yigit, G., Kayserili, H., Youssef, S.A., Coppola, V., de Bruin, A., Tessarollo, L., Choi, H., Rupp, V., Roetzer, K., Roschger, P., Klaushofer, K., Altmüller, J., Roy, S., Venkatesh, B., Ganger, R., Grill, F., Ben Chehida, F., Wollnik, B., Altunoglu, U., Al Kaissi, A., Reversade, B. and Kaldis, P.
American Journal of Human Genetics 101
(3): 391-403.
7 September 2017
Association between loss-of-function mutations within the FANCM gene and early-onset familial breast cancer.
Neidhardt, G., Hauke, J., Ramser, J., Groß, E., Gehrig, A., Müller, C.R., Kahlert, A.K., Hackmann, K., Honisch, E., Niederacher, D., Heilmann-Heimbach, S., Franke, A., Lieb, W., Thiele, H., Altmüller, J., Nürnberg, P., Klaschik, K., Ernst, C., Ditsch, N., Jessen, F., Ramirez, A., Wappenschmidt, B., Engel, C., Rhiem, K., Meindl, A., Schmutzler, R.K. and Hahnen, Eric
JAMA Oncology 3
(9): 1245-1248.
1 September 2017
Association of a synonymous SCN1B variant affecting splicing efficiency with Benign Familial Infantile Epilepsy (BFIE).
Usluer, S., Kayserili, M.A., Eken, A.G., Yiş, U., Leu, C., Altmüller, J., Thiele, H., Nürnberg, P., Sander, T. and Çağlayan, S.H.
European Journal of Paediatric Neurology 21
(5): 773-782.
September 2017
Novel compound heterozygous mutations in TELO2 in a patient with severe expression of You-Hoover-Fong syndrome.
Moosa, S., Altmüller, J., Lyngbye, T., Christensen, R., Li, Y., Nürnberg, P., Yigit, G., Vogel, I. and Wollnik, B.
Molecular Genetics & Genomic Medicine 5
(5): 580-584.
September 2017
Chromatin immunoprecipitation (ChIP) protocol for low-abundance embryonic samples.
Rehimi, R., Bartusel, M., Solinas, F., Altmüller, J. and Rada-Iglesias, A.
Journal of Visualized Experiments
(126): e56186.
29 August 2017
Polylox barcoding reveals haematopoietic stem cell fates realized in vivo.
Pei, W., Feyerabend, T.B., Rössler, J., Wang, X., Postrach, D., Busch, K., Rode, I., Klapproth, K., Dietlein, N., Quedenau, C., Chen, W., Sauer, S., Wolf, S., Höfer, T. and Rodewald, H.Re.
Nature 548
(7668): 456-460.
24 August 2017
Identification of circular RNAs with host gene-independent expression in human model systems for cardiac differentiation and disease.
Siede, D., Rapti, K., Gorska, A.A., Katus, H.A., Altmüller, J., Boeckel, J.N., Meder, B., Maack, C., Völkers, M., Müller, O.J., Backs, J. and Dieterich, C.
Journal of Molecular and Cellular Cardiology 109
: 48-56.
August 2017
Genetic heterogeneity in Pakistani microcephaly families revisited.
Ahmad, I., Baig, S.M., Abdulkareem, A.R., Hussain, M.S., Sur, I., Toliat, M.R., Nürnberg, G., Dalibor, N., Moawia, A., Waseem, S.S., Asif, M., Nagra, H., Sher, M., Khan, M.M.A., Hassan, I., Rehman, S.U., Thiele, H., Altmüller, J., Noegel, A.A. and Nürnberg, P.
Clinical Genetics 92
(1): 62-68.
July 2017
Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability.
Bramswig, N.C., Lüdecke, H.J., Hamdan, F.F., Altmüller, J., Beleggia, F., Elcioglu, N.H., Freyer, C., Gerkes, E.H., Demirkol, Y.K., Knupp, K.G., Kuechler, A., Li, Y., Lowenstein, D.H., Michaud, J.L., Park, K., Stegmann, A.P.A., Veenstra-Knol, H.E., Wieland, T., Wollnik, B., Engels, H., Strom, T.M., Kleefstra, T. and Wieczorek, D.
Human Genetics 136
(7): 821-834.
July 2017
Antagonistic modulation of NPY/AgRP and POMC neurons in the arcuate nucleus by noradrenalin.
Paeger, L., Karakasilioti, I., Altmüller, J., Frommolt, P., Brüning, J. and Kloppenburg, P.
eLife 6
: e25770.
20 June 2017
Mutational profiling in the peripheral blood leukocytes of patients with systemic mast cell activation syndrome using next-generation sequencing.
Altmüller, J., Haenisch, B., Kawalia, A., Menzen, M., Nöthen, M.M., Fier, H. and Molderings, G.J.
Immunogenetics 69
(6): 359-369.
June 2017
A deep intronic CLRN1 (USH3A) founder mutation generates an aberrant exon and underlies severe Usher syndrome on the Arabian Peninsula.
Khan, A.O., Becirovic, E., Betz, C., Neuhaus, C., Altmüller, J., Maria Riedmayr, L., Motameny, S., Nürnberg, G., Nürnberg, P. and Bolz, H.J.
Scientific Reports 7
(1): 1411.
3 May 2017
Mutations in γ-secretase subunit-encoding PSENEN underlie Dowling-Degos disease associated with acne inversa.
Ralser, D.J., Basmanav, F.B.Ü., Tafazzoli, A., Wititsuwannakul, J., Delker, S., Danda, S., Thiele, H., Wolf, S., Busch, M., Pulimood, S.A., Altmüller, J., Nürnberg, P., Lacombe, D., Hillen, U., Wenzel, J., Frank, J., Odermatt, B. and Betz, R.C.
Journal of Clinical Investigation 127
(4): 1485-1490.
3 April 2017
CDK5RAP2 interaction with components of the Hippo signaling pathway may play a role in primary microcephaly.
Sukumaran, S.K., Stumpf, M., Salamon, S., Ahmad, I., Bhattacharya, K., Fischer, S., Müller, R., Altmüller, J., Budde, B., Thiele, H., Tariq, M., Malik, N.A., Nürnberg, P., Baig, S.M., Hussain, M.S. and Noegel, A.A.
Molecular Genetics and Genomics 292
(2): 365-383.
April 2017
Confirmation of CAGSSS syndrome as a distinct entity in a Danish patient with a novel homozygous mutation in IARS2.
Moosa, S., Haagerup, A., Gregersen, P.A., Petersen, K.K., Altmüller, J., Thiele, H., Nürnberg, P., Cho, T.J., Kim, O.H., Nishimura, G., Wollnik, B. and Vogel, I.
American Journal of Medical Genetics Part A 173
(4): 1102-1108.
April 2017
Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism.
Reynolds, J.J., Bicknell, L.S., Carroll, P., Higgs, M.R., Shaheen, R., Murray, J.E., Papadopoulos, D.K., Leitch, A., Murina, O., Tarnauskaitė, Ž., Wessel, S.R., Zlatanou, A., Vernet, A., von Kriegsheim, A., Mottram, R.M.A., Logan, C.V., Bye, H., Li, Y., Brean, A., Maddirevula, S., Challis, R.C., Skouloudaki, K., Almoisheer, A., Alsaif, H.S., Amar, A., Prescott, N.J., Bober, M.B., Duker, A., Faqeih, E., Seidahmed, M.Z., Al Tala, S., Alswaid, A., Ahmed, S., Al-Aama, J.Y., Altmüller, J., Al Balwi, M., Brady, A.F., Chessa, L., Cox, H., Fischetto, R., Heller, R., Henderson, B.D., Hobson, E., Nürnberg, P., Percin, E.F., Peron, A., Spaccini, L., Quigley, A.J., Thakur, S., Wise, C.A., Yoon, G., Alnemer, M., Tomancak, P., Yigit, G., Taylor, A.M.R., Reijns, M.A.M., Simpson, M.A., Cortez, D., Alkuraya, F.S., Mathew, C.G., Jackson, A.P. and Stewart, G.S.
Nature Genetics 49
(4): 537-549.
April 2017
Activation of odorant receptor in colorectal cancer cells leads to inhibition of cell proliferation and apoptosis.
Weber, L., Al-Refae, K., Ebbert, J., Jägers, P., Altmüller, J., Becker, C., Hahn, S., Gisselmann, G. and Hatt, H.
PLoS ONE 12
(3): e0172491.
8 March 2017
The RAD51C exonic splice-site mutations c.404G>C and c.404G>T are associated with familial breast and ovarian cancer.
Neidhardt, G., Becker, A., Hauke, J., Horváth, J., Bogdanova Markov, N., Heilmann-Heimbach, S., Hellebrand, H., Thiele, H., Altmüller, J., Nürnberg, P., Meindl, A., Rhiem, K., Blümcke, B., Wappenschmidt, B., Schmutzler, R.K. and Hahnen, E.
European Journal of Cancer Prevention 26
(2): 165-169.
March 2017
RNA-seq based transcriptome analysis of the type I interferon host response upon vaccinia virus infection of mouse cells.
Hernáez, B., Alonso, G., Alonso-Lobo, J.M., Rastrojo, A., Fischer, C., Sauer, S., Aguado, B. and Alcamí, A.
Journal of Immunology Research 2017
: 5157626.
9 February 2017
The complete mitochondrial transcript of the red tail loach Yasuhikotakia modesta as assembled from RNAseq (Teleostei: Botiidae).
Grau, J.H., Hilgers, L., Altmüller, J., Šlechtová, V. and Bohlen, J.
Mitochondrial DNA Part B Resources 2
(1): 46-47.
2 February 2017
Two olfactory receptors-OR2A4/7 and OR51B5-differentially affect epidermal proliferation and differentiation.
Tsai, T., Veitinger, S., Peek, I., Busse, D., Eckardt, J., Vladimirova, D., Jovancevic, N., Wojcik, S., Gisselmann, G., Altmüller, J., Ständer, S., Luger, T., Paus, R., Cheret, J. and Hatt, H.
Experimental Dermatology 26
(1): 58-65.
January 2017
Expression and functionality of TRPV1 in breast cancer cells.
Weber, L.V., Al-Refae, K., Wölk, G., Bonatz, G., Altmüller, J., Becker, C., Gisselmann, G. and Hatt, H.
Breast Cancer: Targets and Therapy 8
: 243-252.
13 December 2016
The mutation p.E113K in the Schiff base counterion of rhodopsin is associated with two distinct retinal phenotypes within the same family.
Reiff, C., Owczarek-Lipska, M., Spital, G., Röger, C., Hinz, H., Jüschke, C., Thiele, H., Altmüller, J., Nürnberg, P., Da Costa, R. and Neidhardt, J.
Scientific Reports 6
: 36208.
4 November 2016
Efficient application of de novo RNA assemblers for proteomics informed by transcriptomics.
Luge, T., Fischer, C. and Sauer, S.
Journal of Proteome Research 15
(10): 3938-3943.
7 October 2016
Heterogeneous mechanisms of primary and acquired resistance to third-generation EGFR inhibitors.
Ortiz-Cuaran, S., Scheffler, M., Plenker, D., Dahmen, L., Scheel, A.H., Fernandez-Cuesta, L., Meder, L., Lovly, C.M., Persigehl, T., Merkelbach-Bruse, S., Bos, M., Michels, S., Fischer, R., Albus, K., König, K., Schildhaus, H.U., Fassunke, Jana, Ihle, M.A., Pasternack, H., Heydt, C., Becker, C., Altmüller, J., Ji, H., Müller, C., Florin, A., Heuckmann, J.M., Nuernberg, P., Ansén, S., Heukamp, L.C., Berg, J., Pao, W., Peifer, M., Buettner, R., Wolf, J., Thomas, R.K. and Sos, M.L.
Clinical Cancer Research 22
(19): 4837-4847.
2 October 2016
Update on the ACTG1-associated Baraitser–Winter cerebrofrontofacial syndrome.
Di Donato, N., Kuechler, A., Vergano, S., Heinritz, W., Bodurtha, J., Merchant, S.R., Breningstall, G., Ladda, R., Sell, S., Altmüller, J., Bögershausen, N., Timms, A.E., Hackmann, K., Schrock, E., Collins, S., Olds, C., Rump, A. and Dobyns, W.B.
American Journal of Medical Genetics Part A 170
(10): 2644-2651.
October 2016
Genomic resources for wild populations of the house mouse, Mus musculus and its close relative Mus spretus.
Harr, B., Karakoc, E., Neme, R., Teschke, M., Pfeifle, C., Pezer, Ž., Babiker, H., Linnenbrink, M., Montero, I., Scavetta, R., Abai, M.R., Molins, M.P., Schlegel, M., Ulrich, R.G., Altmüller, J., Franitza, M., Büntge, A., Künzel, S. and Tautz, D.
Scientific Data 3
: 160075.
13 September 2016
Characterization of non-olfactory GPCRs in human sperm with a focus on GPR18.
Flegel, C., Vogel, F., Hofreuter, A., Wojcik, S., Schoeder, C., Kieć-Kononowicz, K., Brockmeyer, N.H., Müller, C.E., Becker, C., Altmüller, J., Hatt, H. and Gisselmann, G.
Scientific Reports 6
: 32255.
30 August 2016
Exome sequencing identifies biallelic MSH3 germline mutations as a recessive subtype of colorectal adenomatous polyposis.
Adam, R., Spier, I., Zhao, B., Kloth, M., Marquez, J., Hinrichsen, I., Kirfel, J., Tafazzoli, A., Horpaopan, S., Uhlhaas, S., Stienen, D., Friedrichs, N., Altmüller, J., Laner, A., Holzapfel, S., Peters, S., Kayser, K., Thiele, H., Holinski-Feder, E., Marra, G., Kristiansen, G., Nöthen, M.M., Büttner, R., Möslein, G., Betz, R.C., Brieger, A., Lifton, R.P. and Aretz, S.
American Journal of Human Genetics 99
(2): 337-51.
4 August 2016
A systematic comparison of two new releases of exome sequencing products: the aim of use determines the choice of product.
Altmüller, J., Motameny, S., Becker, C., Thiele, H., Chatterjee, S., Wollnik, B. and Nürnberg, P.
Biological Chemistry 397
(8): 791-801.
1 August 2016
Neuropathological signs of inflammation correlate with mitochondrial DNA deletions in mesial temporal lobe epilepsy.
Volmering, E., Niehusmann, P., Peeva, V., Grote, A., Zsurka, G., Altmüller, J., Nürnberg, P., Becker, A.J., Schoch, S., Elger, C.E. and Kunz, W.S.
Acta Neuropathologica 132
(2): 277-288.
August 2016
The activation of OR51E1 causes growth suppression of human prostate cancer cells.
Maßberg, D., Jovancevic, N., Offermann, A., Simon, A., Baniahmad, A., Perner, S., Pungsrinont, T., Luko, K., Philippou, S., Ubrig, B., Heiland, M., Weber, L., Altmüller, J., Becker, C., Gisselmann, G., Gelis, L. and Hatt, H.
Oncotarget 7
(30): 48231-48249.
26 July 2016
Complex karyotypes and KRAS and POT1 mutations impact outcome in CLL after chlorambucil-based chemotherapy or chemoimmunotherapy.
Herling, C.D., Klaumünzer, M., Rocha, C.K., Altmüller, J., Thiele, H., Bahlo, J., Kluth, S., Crispatzu, G., Herling, M., Schiller, J., Engelke, A., Tausch, E., Döhner, H., Fischer, K., Goede, V., Nürnberg, P., Reinhardt, H.C., Stilgenbauer, S., Hallek, M. and Kreuzer, K.A.
Blood 128
(3): 395-404.
21 July 2016
Tumor suppression in basal keratinocytes via dual non-cell-autonomous functions of a Na,K-ATPase beta subunit.
Hatzold, J., Beleggia, F., Herzig, H., Altmüller, J., Nürnberg, P., Bloch, W., Wollnik, B. and Hammerschmidt, M.
eLife 5
: e14277.
15 July 2016
A large deletion in RPGR causes XLPRA in Weimaraner dogs.
Kropatsch, R., Akkad, D.A., Frank, M., Rosenhagen, C., Altmüller, J., Nürnberg, P., Epplen, J.T. and Dekomien, G.
Canine Genetics and Epidemiology 3
: 7.
8 July 2016
Identification of novel and recurrent disease-causing mutations in retinal dystrophies using whole exome sequencing (WES): Benefits and limitations.
Tiwari, A., Lemke, J., Altmüller, J., Thiele, H., Glaus, E., Fleischhauer, J., Nürnberg, P., Neidhardt, J. and Berger, W.
PLoS ONE 11
(7): e0158692.
8 July 2016
Mutations in EXOSC2 are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestalt.
Di Donato, N., Neuhann, T., Kahlert, A.K., Klink, B., Hackmann, K., Neuhann, I., Novotna, B., Schallner, J., Krause, C., Glass, I.A., Parnell, S.E., Benet-Pages, A., Nissen, A.M., Berger, W., Altmüller, J., Thiele, H., Weber, B.H.F., Schrock, E., Dobyns, W.B., Bier, A. and Rump, A.
Journal of Medical Genetics 53
(6): 419-425.
June 2016
The WOPR protein Ros1 is a master regulator of sporogenesis and late effector gene expression in the maize pathogen Ustilago maydis.
Tollot, M., Assmann, D., Becker, C., Altmüller, J., Dutheil, J.Y., Wegner, C.E. and Kahmann, R.
PLoS Pathogens 12
(6): e1005697.
June 2016
Polyhydramnios, transient antenatal Bartter's syndrome, and MAGED2 mutations.
Laghmani, K., Beck, B.B., Yang, S.S., Seaayfan, E., Wenzel, A., Reusch, B., Vitzthum, H., Priem, D., Demaretz, S., Bergmann, K., Duin, L.K., Göbel, H., Mache, C., Thiele, H., Bartram, M.P., Dombret, C., Altmüller, J., Nürnberg, P., Benzing, T., Levtchenko, E., Seyberth, H.W., Klaus, G., Yigit, G., Lin, S.H., Timmer, A., de Koning, T.J., Scherjon, S.A., Schlingmann, K.P., Bertrand, M.J.M., Rinschen, M.M., de Backer, O., Konrad, M. and Kömhoff, M.
New England Journal of Medicine 374
(19): 1853-1863.
12 May 2016
Novel IFT122 mutations in three Argentinian patients with cranioectodermal dysplasia: expanding the mutational spectrum.
Moosa, S., Obregon, M.G., Altmüller, J., Thiele, H., Nürnberg, P., Fano, V. and Wollnik, B.
American Journal of Medical Genetics Part A 170
(5): 1295-1301.
May 2016
Transcriptome analysis of murine olfactory sensory neurons during development using single cell RNA-Seq.
Scholz, P., Kalbe, B., Jansen, F., Altmüller, J., Becker, C., Mohrhardt, J., Schreiner, B., Gisselmann, G., Hatt, H. and Osterloh, S.
Chemical Senses 41
(4): 313-323.
May 2016
Exome sequencing identifies potential novel candidate genes in patients with unexplained colorectal adenomatous polyposis.
Spier, I., Kerick, M., Drichel, D., Horpaopan, S., Altmüller, J., Laner, A., Holzapfel, S., Peters, S., Adam, R., Zhao, B., Becker, T., Lifton, R.P., Holinski-Feder, E., Perner, S., Thiele, H., Nöthen, M.M., Hoffmann, P., Timmermann, B., Schweiger, M.R. and Aretz, S.
Familial Cancer 15
(2): 281-288.
April 2016
Evaluation of presumably disease causing SCN1A variants in a cohort of common epilepsy syndromes.
Lal, D., Reinthaler, E.M., Dejanovic, B., May, P., Thiele, H., Lehesjoki, A.E., Schwarz, G., Riesch, E., Ikram, M.A., van Duijn, C.M., Uitterlinden, A.G., Hofman, A., Steinböck, H., Gruber-Sedlmayr, U., Neophytou, B., Zara, F., Hahn, A., Gormley, P., Becker, F., Weber, Y.G., Cilio, M.R., Kunz, W.S., Krause, R., Zimprich, F., Lemke, J.R., Nürnberg, P., Sander, T., Lerche, H. and Neubauer, B.A.
PLoS ONE 11
(3): e0150426.
18 March 2016
Three-layered proteomic characterization of a novel ACTN4 mutation unravels its pathogenic potential in FSGS.
Bartram, M.P., Habbig, S., Pahmeyer, C., Höhne, M., Weber, L.T., Thiele, H., Altmüller, J., Kottoor, N., Wenzel, A., Krueger, M., Schermer, B., Benzing, T., Rinschen, M.M. and Beck, B.B.
Human Molecular Genetics 25
(6): 1152-1164.
15 March 2016
A syndrome of microcephaly, short stature, polysyndactyly, and dental anomalies caused by a homozygous KATNB1 mutation.
Yigit, G., Wieczorek, D., Bögershausen, N., Beleggia, F., Möller-Hartmann, C., Altmüller, J., Thiele, H., Nürnberg, P. and Wollnik, B.
American Journal of Medical Genetics Part A 170
(3): 728-733.
March 2016
Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation.
Gardella, E., Becker, F., Møller, R.S., Schubert, J., Lemke, J.R., Larsen, L.H.G., Eiberg, H., Nothnagel, M., Thiele, H., Altmüller, J., Syrbe, S., Merkenschlager, A., Bast, T., Steinhoff, B., Nürnberg, P., Mang, Y., Bakke Møller, L., Gellert, P., Heron, S.E., Dibbens, L.M., Weckhuysen, S., Dahl, H.A., Biskup, S., Tommerup, N., Hjalgrim, H., Lerche, H., Beniczky, S. and Weber, Y.G.
Annals of Neurology 79
(3): 428-436.
March 2016
Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome.
Ammann, S., Schulz, A., Krägeloh-Mann, I., Dieckmann, N.M.G., Niethammer, K., Fuchs, S., Eckl, K.M., Plank, R., Werner, R., Altmüller, J., Thiele, H., Nürnberg, P., Bank, J., Strauss, A., von Bernuth, H., Zur Stadt, U., Grieve, S., Griffiths, G.M., Lehmberg, K., Hennies, H.C. and Ehl, S.
Blood 127
(8): 997-1006.
25 February 2016
A novel homozygous splicing mutation of CASC5 causes primary microcephaly in a large Pakistani family.
Szczepanski, S., Hussain, M.S., Sur, I., Altmüller, J., Thiele, H., Abdullah, U., Waseem, S.S., Moawia, A., Nürnberg, G., Noegel, A.A., Baig, S.M. and Nürnberg, P.
Human Genetics 135
(2): 157-170.
February 2016
Exome sequencing and CRISPR/Cas genome editing identify mutations of ZAK as a cause of limb defects in humans and mice.
Spielmann, M., Kakar, N., Tayebi, N., Leettola, C., Nürnberg, G., Sowada, N., Lupiáñez, D.G., Harabula, I., Flöttmann, R., Horn, D., Chan, W.L., Wittler, L., Yilmaz, R., Altmüller, J., Thiele, H., van Bokhoven, H., Schwartz, C.E., Nürnberg, P., Bowie, J.U., Ahmad, J., Kubisch, C., Mundlos, S. and Borck, G.
Genome Research 26
(2): 183-191.
February 2016
Increased probability of co-occurrence of two rare diseases in consanguineous families and resolution of a complex phenotype by next generation sequencing.
Lal, D., Neubauer, B.A., Toliat, M.R., Altmüller, J., Thiele, H., Nürnberg, P., Kamrath, C., Schänzer, A., Sander, T., Hahn, A. and Nothnagel, M.
PLoS ONE 11
(1): e0146040.
January 2016
Cold-aggravated pain in humans caused by a hyperactive Na(V)1.9 channel mutant.
Leipold, E., Hanson-Kahn, A., Frick, M., Gong, P., Bernstein, J.A., Voigt, M., Katona, I., Oliver Goral, R., Altmüller, J., Nürnberg, P., Weis, J., Hübner, C.A., Heinemann, S.H. and Kurth, I.
Nature Communications 6
: 10049.
8 December 2015
Ecological transcriptomics – a non-lethal sampling approach for endangered fire salamanders.
Czypionka, T., Krugman, T., Altmüller, J., Blaustein, L., Steinfartz, S., Templeton, A.R., Nolte, A.W. and Leder, E.
Methods in Ecology and Evolution 6
(12): 1417-1425.
December 2015
De novo FUS mutations are the most frequent genetic cause in early-onset German ALS patients.
Hübers, A., Just, W., Rosenbohm, A., Müller, K., Marroquin, N., Goebel, I., Högel, J., Thiele, H., Altmüller, J., Nürnberg, P., Weishaupt, J.H., Kubisch, C., Ludolph, A.C. and Volk, A.E.
Neurobiology of Aging 36
(11): 3117.e1-3117.e6.
November 2015
Floral induction in Arabidopsis by FLOWERING LOCUS T requires direct repression of BLADE-ON-PETIOLE genes by the homeodomain protein PENNYWISE.
Andrés, F., Romera-Branchat, M., Martínez-Gallegos, R., Patel, V., Schneeberger, K., Jang, S., Altmüller, J., Nürnberg, P. and Coupland, G.
Plant Physiology 169
(3): 2187-2199.
November 2015
Identification of a novel mutation in RIPK4 in a kindred with phenotypic features of Bartsocas-Papas and CHAND syndromes.
Gollasch, B., Basmanav, F.B., Nanda, A., Fritz, G., Mahmoudi, H., Thiele, H., Wehner, M., Wolf, S., Altmüller, J., Nürnberg, P., Frank, J. and Betz, R.C.
American Journal of Medical Genetics Part A 167
(11): 2555-2562.
November 2015
Telomerase activation by genomic rearrangements in high-risk neuroblastoma.
Peifer, M., Hertwig, F., Roels, F., Dreidax, D., Gartlgruber, M., Menon, R., Krämer, A., Roncaioli, J.L., Sand, F., Heuckmann, J.M., Ikram, F., Schmidt, R., Ackermann, S., Engesser, A., Kahlert, Y., Vogel, W., Altmüller, J., Nürnberg, P., Thierry-Mieg, J., Thierry-Mieg, D., Mariappan, A., Heynck, S., Mariotti, E., Henrich, K.O., Gloeckner, C., Bosco, G., Leuschner, I., Schweiger, M.R., Savelyeva, L., Watkins, S.C., Shao, C., Bell, E., Höfer, T., Achter, V., Lang, U., Theissen, J., Volland, R., Saadati, M., Eggert, A., de Wilde, B., Berthold, F., Peng, Z., Zhao, C., Shi, L., Ortmann, M., Büttner, R., Perner, S., Hero, B., Schramm, A., Schulte, J.H., Herrmann, C., O'Sullivan, R.J., Westermann, F., Thomas, R.K. and Fischer, M.
Nature 526
(7575): 700-704.
29 October 2015
Loss-of-function GAS8 mutations cause primary ciliary dyskinesia and disrupt the nexin-dynein regulatory complex.
Olbrich, H., Cremers, C., Loges, N.T., Werner, C., Nielsen, K.G., Marthin, J.K., Philipsen, M., Wallmeier, J., Pennekamp, P., Menchen, T., Edelbusch, C., Dougherty, G.W., Schwartz, O., Thiele, H., Altmüller, J., Rommelmann, F. and Omran, H.
American Journal of Human Genetics 97
(4): 546-54.
1 October 2015
Exome sequencing identifies a novel heterozygous TGFB3 mutation in a disorder overlapping with Marfan and Loeys-Dietz syndrome.
Kuechler, A., Altmüller, J., Nürnberg, P., Kotthoff, S., Kubisch, C. and Borck, G.
Molecular and Cellular Probes 29
(5): 330-334.
October 2015
Ectodysplasin signalling genes and phenotypic evolution in sculpins (Cottus).
Cheng, J., Sedlazek, F., Altmüller, J. and Nolte, A.W.
Proceedings of the Royal Society of London Series B-Biological Sciences 282
(1815): 20150746.
22 September 2015
Comprehensive genomic profiles of small cell lung cancer.
George, J., Lim, J.S., Jang, S.J., Cun, Y., Ozretić, L., Kong, G., Leenders, F., Lu, X., Fernández-Cuesta, L., Bosco, G., Müller, C., Dahmen, I., Jahchan, N.S., Park, K.S., Yang, D., Karnezis, A.N., Vaka, D., Torres, A., Wang, M.S., Korbel, J.O., Menon, R., Chun, S.M., Kim, D., Wilkerson, M., Hayes, N., Engelmann, D., Pützer, B., Bos, M., Michels, S., Vlasic, I., Seidel, D., Pinther, B., Schaub, P., Becker, C., Altmüller, J., Yokota, J., Kohno, T., Iwakawa, R., Tsuta, K., Noguchi, M., Muley, T., Hoffmann, H., Schnabel, P.A., Petersen, I., Chen, Y., Soltermann, A., Tischler, V., Choi, C.M., Kim, Y.H., Massion, P.P., Zou, Y., Jovanovic, D., Kontic, M., Wright, G.M., Russell, P.A., Solomon, B., Koch, I., Lindner, M., Muscarella, L.A., la Torre, A., Field, J.K., Jakopovic, M., Knezevic, J., Castaños-Vélez, E., Roz, L., Pastorino, U., Brustugun, O.T., Lund-Iversen, M., Thunnissen, E., Köhler, J., Schuler, M., Botling, J., Sandelin, M., Sanchez-Cespedes, M., Salvesen, H.B., Achter, V., Lang, U., Bogus, M., Schneider, P.M., Zander, T., Ansén, S., Hallek, M., Wolf, J., Vingron, M., Yatabe, Y., Travis, W.D., Nürnberg, P., Reinhardt, C., Perner, S., Heukamp, L., Büttner, R., Haas, S.A., Brambilla, E., Peifer, M., Sage, J. and Thomas, R.K.
Nature 524
(7563): 47-53.
6 August 2015
Mutational dynamics between primary and relapse neuroblastomas.
Schramm, A., Köster, J., Assenov, Y., Althoff, K., Peifer, M., Mahlow, E., Odersky, A., Beisser, D., Ernst, C., Henssen, A.G., Stephan, H., Schröder, C., Heukamp, L., Engesser, A., Kahlert, Y., Theissen, J., Hero, B., Roels, F., Altmüller, J., Nürnberg, P., Astrahantseff, K., Gloeckner, C., De Preter, K., Plass, C., Lee, S., Lode, H.N., Henrich, K.O., Gartlgruber, M., Speleman, F., Schmezer, P., Westermann, F., Rahmann, S., Fischer, M., Eggert, A. and Schulte, J.H.
Nature Genetics 47
(8): 872-877.
August 2015
Frequency and phenotypic spectrum of germline mutations in POLE and seven other polymerase genes in 266 patients with colorectal adenomas and carcinomas.
Spier, I., Holzapfel, S., Altmüller, J., Zhao, B., Horpaopan, S., Vogt, S., Chen, S., Morak, M., Raeder, S., Kayser, K., Stienen, D., Adam, R., Nürnberg, P., Plotz, G., Holinski-Feder, E., Lifton, R.P., Thiele, H., Hoffmann, P., Steinke, V. and Aretz, S.
International Journal of Cancer 137
(2): 320-331.
15 July 2015
Mutations in XRCC4 cause primary microcephaly, short stature and increased genomic instability.
Rosin, N., Elcioglu, N.H., Beleggia, F., Isgüven, P., Altmüller, J., Thiele, H., Steindl, K., Joset, P., Rauch, A., Nürnberg, P., Wollnik, B. and Yigit, G.
Human Molecular Genetics 24
(13): 3708-3717.
1 July 2015
Implementation of amplicon parallel sequencing leads to improvement of diagnosis and therapy of lung cancer patients.
König, K., Peifer, M., Fassunke, J., Ihle, M.A., Künstlinger, H., Heydt, C., Stamm, K., Ueckeroth, F., Vollbrecht, C., Bos, M., Gardizi, M., Scheffler, M., Nogova, L., Leenders, F., Albus, K., Meder, L., Becker, K., Florin, A., Rommerscheidt-Fuss, U., Altmüller, J., Kloth, M., Nürnberg, P., Henkel, T., Bikár, S.E., Sos, M.L., Geese, W.J., Strauss, L., Ko, Y.D., Gerigk, U., Odenthal, M., Zander, T., Wolf, J., Merkelbach-Bruse, S., Buettner, R. and Heukamp, L.C.
Journal of Thoracic Oncology 10
(7): 1049-1057.
July 2015
Skeletal dysplasia in a consanguineous clan from the island of Nias/Indonesia is caused by a novel mutation in B3GAT3.
Budde, B.S., Mizumoto, S., Kogawa, R., Becker, C., Altmüller, J., Thiele, H., Rueschendorf, F., Toliat, M.R., Kaleschke, G., Haemmerle, J.M., Hoehne, W., Sugahara, K., Nuernberg, P. and Kennerknecht, I.
Human Genetics 134
(7): 691-704.
July 2015
Rare variants in GABA(A) receptor genes in Rolandic epilepsy and related syndromes.
Reinthaler, E.M., Dejanovic, B., Lal, D., Semtner, M., Merkler, Y., Reinhold, A., Pittrich, D.A., Hotzy, C., Feucht, M., Steinboeck, H., Gruber-Sedlmayr, U., Ronen, G., Neophytou, B., Geldner, J., Haberlandt, E., Muhle, H., Ikram, M.A., van Duijn, CM., Uitterlinden, A.G., Hofman, A., Altmüller, J., Kawalia, A., Toliat, M.R., Nuernberg, P., Lerche, H., Nothnagel, M., Thiele, H., Sander, T., Meier, J.C., Schwarz, G., Neubauer, B.A. and Zimprich, F.
Annals of Neurology 77
(6): 972-986.
June 2015
CWC22-dependent pre-mRNA splicing and eIF4A3 binding enables global deposition of exon junction complexes.
Steckelberg, A.L., Altmueller, J., Dieterich, C. and Gehring, N.H.
Nucleic Acids Research 43
(9): 4687-4700.
19 May 2015
CHD2 variants are a risk factor for photosensitivity in epilepsy.
Galizia, E.C., Myers, C.T., Leu, C., de Kovel, C.G.F., Afrikanova, T., Cordero-Maldonado, M.L., Martins, T.G., Jacmin, M., Drury, S., Krishna Chinthapalli, V., Muhle, H., Pendziwiat, M., Sander, T., Ruppert, A.K., Møller, R.S., Thiele, H., Krause, R., Schubert, J., Lehesjoki, A.E., Nürnberg, P., Lerche, H., Palotie, A., Coppola, A., Striano, S., Gaudio, L.D., Boustred, C., Schneider, A.L., Lench, N., Jocic-Jakubi, B., Covanis, A., Capovilla, G., Veggiotti, P., Piccioli, M., Parisi, P., Cantonetti, L., Sadleir, L.G., Mullen, S.A., Berkovic, S.F, Stephani, U., Helbig, I., Crawford, A.D., Esguerra, C.V., Kasteleijn-Nolst Trenité, D.G.A., Koeleman, B.P.C., Mefford, H.C., Scheffer, I.E. and Sisodiya, S.M.
Brain 138
(5): 1198-1207.
May 2015
Genome-wide CNV analysis in 221 unrelated patients and targeted high-throughput sequencing reveal novel causative candidate genes for colorectal adenomatous polyposis.
Horpaopan, S., Spier, I., Zink, A.M., Altmüller, J., Holzapfel, S., Laner, A., Vogt, S., Uhlhaas, S., Heilmann, S., Stienen, D., Pasternack, S.M., Keppler, K., Adam, R., Kayser, K., Moebus, S., Draaken, M., Degenhardt, F., Engels, H., Hofmann, A., Nöthen, M.M., Steinke, V., Perez-Bouza, A., Herms, S., Holinski-Feder, E., Fröhlich, H., Thiele, H., Hoffmann, P. and Aretz, S.
International Journal of Cancer 136
(6): E578–E589.
15 March 2015
BRF1 mutations alter RNA polymerase III–dependent transcription and cause neurodevelopmental anomalies.
Borck, G., Hög, F., Dentici, M.L., Tan, P.L., Sowada, N., Medeira, A., Gueneau, L., Thiele, H., Kousi, M., Lepri, F., Wenzeck, L., Blumenthal, I., Radicioni, A., Schwarzenberg, T.L., Mandriani, B., Fischetto, R., Morris-Rosendahl, D.J., Altmüller, J., Reymond, A., Nürnberg, P., Merla, G., Dallapiccola, B., Katsanis, N., Cramer, P. and Kubisch, C.
Genome Research 25
(2): 155-166.
February 2015
Identification of novel fusion genes in lung cancer using breakpoint assembly of transcriptome sequencing data.
Fernandez-Cuesta, L., Sun, R., Menon, R., George, J., Lorenz, S., Meza-Zepeda, L.A., Peifer, M., Plenker, D., Heuckmann, J.M., Leenders, F., Zander, T., Dahmen, I., Koker, M., Schöttle, J., Ullrich, R.T., Altmüller, J., Becker, C., Nürnberg, P., Seidel, H., Böhm, D., Göke, F., Ansén, S., Russell, P.A., Wright, G.M., Wainer, Z., Solomon, B., Petersen, I., Clement, J.H., Sänger, J., Brustugun, O.T., Helland, Å., Solberg, S., Lund-Iversen, M., Buettner, R., Wolf, J., Brambilla, E., Vingron, M., Perner, S., Haas, S.A. and Thomas, R.K.
Genome Biology 16
: 7.
5 January 2015
STIL mutation causes autosomal recessive microcephalic lobar holoprosencephaly.
Kakar, N., Ahmad, J., Morris-Rosendahl, D.J., Altmüller, J., Friedrich, K., Barbi, G., Nürnberg, P., Kubisch, C., Dobyns, W.B. and Borck, G.
Human Genetics 134
(1): 45-51.
January 2015
Characterization of the olfactory receptors expressed in human spermatozoa.
Flegel, C., Vogel, F., Hofreuter, A., Schreiner, B.S.P., Osthold, S., Veitinger, S., Becker, C., Brockmeyer, N.H., Muschol, M., Wennemuth, G., Altmüller, J., Hatt, H. and Gisselmann, G.
Frontiers in Molecular Biosciences 2
: 73.
2015
Deep sequencing of the murine olfactory receptor neuron transcriptome.
Kanageswaran, N., Demond, M., Nagel, M., Schreiner, B.S.P., Baumgart, S., Scholz, P., Altmüller, J., Becker, C., Doerner, J.F., Conrad, H., Oberland, S., Wetzel, C.H., Neuhaus, E.M., Hatt, H. and Gisselmann, G.
PLoS ONE 10
(1): e0113170.
2015
Label-free protein-RNA interactome analysis identifies khsrp signaling downstream of the p38/Mk2 kinase complex as a critical modulator of cell cycle progression.
Boucas, J., Fritz, C., Schmitt, A., Riabinska, A., Thelen, L., Peifer, M., Leeser, U., Nuernberg, P., Altmüller, J., Gaestel, M., Dieterich, C. and Reinhardt, H.C.
PLoS ONE 10
(5): e0125745.
2015
RNA-Seq analysis of human trigeminal and dorsal root ganglia with a focus on chemoreceptors.
Flegel, C., Schöbel, N., Altmüller, J., Becker, C., Tannapfel, A., Hatt, H. and Gisselmann, G.
PLoS ONE 10
(6): e0128951.
2015
Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome.
Ehmke, N., Caliebe, A., Koenig, R., Kant, S.G., Stark, Z., Cormier-Daire, V., Wieczorek, D., Gillessen-Kaesbach, G., Hoff, K., Kawalia, A., Thiele, H., Altmüller, J., Fischer-Zirnsak, B., Knaus, A., Zhu, N., Heinrich, V., Huber, C., Harabula, I., Spielmann, M., Horn, D., Kornak, U., Hecht, J., Krawitz, P.M., Nürnberg, P., Siebert, R., Manzke, H. and Mundlos, S.
American Journal of Human Genetics 95
(6): 763-70.
4 December 2014
Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy.
Martin, C.A., Ahmad, I., Klingseisen, A., Hussain, M.S., Bicknell, L.S., Leitch, A., Nürnberg, G., Toliat, M.R., Murray, J.E., Hunt, D., Khan, F., Ali, Z., Tinschert, S., Ding, J., Keith, C., Harley, M.E., Heyn, P., Müller, R., Hoffmann, I., Cormier-Daire, V., Dollfus, H., Dupuis, L., Bashamboo, A., McElreavey, K., Kariminejad, A., Mendoza-Londono, R., Moore, A.T., Saggar, A., Schlechter, C., Weleber, R., Thiele, H., Altmüller, J., Höhne, W., Hurles, M.E., Noegel, A.A., Baig, S.M., Nürnberg, P. and Jackson, A.P.
Nature Genetics 46
(12): 1283-1292.
December 2014
A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family.
Khan, M.A., Rupp, V.M., Orpinell, M., Hussain, M.S., Altmüller, J., Steinmetz, M.O., Enzinger, C., Thiele, H., Höhne, W., Nürnberg, G., Baig, S.M., Ansar, M., Nürnberg, P., Vincent, J.B., Speicher, M.R., Gönczy, P. and Windpassinger, C.
Human Molecular Genetics 23
(22): 5940-5949.
15 November 2014
Mutations in CKAP2L, the human homolog of the mouse Radmis gene, cause Filippi syndrome.
Hussain, M.S., Battaglia, A., Szczepanski, S., Kaygusuz, E., Toliat, M.R., Sakakibara, S., Altmüller, J., Thiele, H., Nürnberg, G., Moosa, S., Yigit, G., Beleggia, F., Tinschert, S., Clayton-Smith, J., Vasudevan, P., Urquhart, J.E., Donnai, D., Fryer, A., Percin, F., Brancati, F., Dobbie, A., Smigiel, R., Gillessen-Kaesbach, G., Wollnik, B., Noegel, A.A., Newman, W.G. and Nürnberg, P.
American Journal of Human Genetics 95
(5): 622-632.
6 November 2014
Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features.
Lessel, D., Vaz, B., Halder, S., Lockhart, P.J., Marinovic-Terzic, I., Lopez-Mosqueda, J., Philipp, M., Sim, J.C.H., Smith, K.R., Oehler, J., Cabrera, E., Freire, R., Pope, K., Nahid, A., Norris, F., Leventer, R.J., Delatycki, M., Barbi, G., von Ameln, S., Högel, J., Degoricija, M., Fertig, R., Burkhalter, M.D., Hofmann, K., Thiele, H., Altmüller, J., Nürnberg, G., Nürnberg, P., Bahlo, M., Martin, G.M., Aalfs, C.M., Oshima, J., Terzic, J., Amor, D.J., Dikic, I., Ramadan, K. and Kubisch, C.
Nature Genetics 46
(11): 1239-1244.
November 2014
CLUH regulates mitochondrial biogenesis by binding mRNAs of nuclear-encoded mitochondrial proteins.
Gao, J., Schatton, D., Martinelli, P., Hansen, H., Pla-Martin, D., Barth, E., Becker, C., Altmueller, J., Frommolt, P., Sardiello, M. and Rugarli, E.I.
Journal of Cell Biology 207
(2): 213-223.
27 October 2014
Mutation of POC1B in a severe syndromic retinal ciliopathy.
Beck, B.B., Phillips, J.B., Bartram, M.P., Wegner, J., Thoenes, M., Pannes, A., Sampson, J., Heller, R., Göbel, H., Koerber, F., Neugebauer, A., Hedergott, A., Nürnberg, G., Nürnberg, P., Thiele, H., Altmüller, J., Toliat, M.R., Staubach, S., Boycott, K.M., Valente, E.M., Janecke, A.R., Eisenberger, T., Bergmann, C., Tebbe, L., Wang, Y., Wu, Y., Fry, A.M., Westerfield, M., Wolfrum, U. and Bolz, H.J.
Human Mutation 35
(10): 1153-1162.
October 2014
Deciphering the genetic basis of microcystin tolerance.
Schwarzenberger, A., Sadler, T., Motameny, S., Ben-Khalifa, K., Frommolt, P., Altmüller, J., Konrad, K. and von Elert, E.
BMC Genomics 15
: 776.
9 September 2014
Analysis of ELP4, SRPX2, and interacting genes in typical and atypical rolandic epilepsy.
Reinthaler, E.M., Lal, D., Jurkowski, W., Feucht, M., Steinböck, H., Gruber-Sedlmayr, U., Ronen, G.M., Geldner, J., Haberlandt, E., Neophytou, B., Hahn, A., Altmüller, J., Thiele, H., Toliat, M.R., Lerche, H., Nürnberg, P., Sander, T., Neubauer, B.A. and Zimprich, F.
Epilepsia 55
(8): 89-93.
August 2014
Exonic microdeletions of the gephyrin gene impair GABAergic synaptic inhibition in patients with idiopathic generalized epilepsy.
Dejanovic, B., Lal, D., Catarino, C.B., Arjune, S., Belaidi, A.A., Trucks, H., Vollmar, C., Surges, R., Kunz, W.S., Motameny, S., Altmüller, J., Köhler, A., Neubauer, B.A., Nürnberg, P., Noachtar, S., Schwarz, G. and Sander, T.
Neurobiology of Disease 67
: 88-96.
July 2014
DEPDC5 mutations in genetic focal epilepsies of childhood.
Lal, D., Reinthaler, E.M., Schubert, J., Muhle, H., Riesch, E., Kluger, G., Jabbari, K., Kawalia, A., Bäumel, C., Holthausen, H., Hahn, A., Feucht, M., Neophytou, B., Haberlandt, E., Becker, F., Altmüller, J., Thiele, H., Lemke, J.R., Lerche, H., Nürnberg, P., Sander, T., Weber, Y., Zimprich, F. and Neubauer, B.A.
Annals of Neurology 75
(5): 788-792.
May 2014
CD74–NRG1 fusions in lung adenocarcinoma.
Fernandez-Cuesta, L., Plenker, D., Osada, H., Sun, R., Menon, R., Leenders, F., Ortiz-Cuaran, S., Peifer, M., Bos, M., Daßler, J., Malchers, F., Schöttle, J., Vogel, W., Dahmen, I., Koker, M., Ullrich, R.T., Wright, G.M., Russell, P.A., Wainer, Z., Solomon, B., Brambilla, E., Nagy-Mignotte, H., Moro-Sibilot, D., Brambilla, C.G., Lantuejoul, S., Altmüller, J., Becker, C., Nürnberg, P., Heuckmann, J.M., Stoelben, E., Petersen, I., Clement, J.H., Sänger, J., Muscarella, L.A., la Torre, A., Fazio, V.M., Lahortiga, I., Perera, T., Ogata, S., Parade, M., Brehmer, D., Vingron, M., Heukamp, L.C., Buettner, R., Zander, T., Wolf, J., Perner, S., Ansén, S., Haas, S.A., Yatabe, Y. and Thomas, R.K.
Cancer Discovery 4
(4): 415-22.
1 April 2014
Frequent mutations in chromatin-remodelling genes in pulmonary carcinoids.
Fernandez-Cuesta, L., Peifer, M., Lu, X., Sun, R., Ozretić, L., Seidal, D., Zander, T., Leenders, F., George, J., Müller, C., Dahmen, I., Pinther, B., Bosco, G., Konrad, K., Altmüller, J., Nürnberg, P., Achter, V., Lang, U., Schneider, P.M., Bogus, M., Soltermann, A., Brustugun, O.T., Helland, Å., Solberg, S., Lund-Iversen, M., Ansén, S., Stoelben, E., Wright, G.M., Russell, P., Wainer, Z., Solomon, B., Field, J.K., Hyde, R., Davies, M.P., Heukamp, L.C., Petersen, I., Perner, S., Lovly, C., Cappuzzo, F., Travis, W.D., Wolf, J., Vingron, M., Brambilla, E., Haas, S.A., Buettner, R. and Thomas, R.K.
Nature Communications 5
: 3518.
27 March 2014
Enrichment of target sequences for next-generation sequencing applications in research and diagnostics.
Altmüller, J., Budde, B.S. and Nürnberg, P.
Biological Chemistry 395
(2): 231-237.
1 February 2014
Genome-wide protein QTL mapping identifies human plasma kallikrein as a post-translational regulator of serum uPAR levels.
Portelli, M.A., Siedlinski, M., Stewart, C.E., Postma, D.S., Nieuwenhuis, M.A., Vonk, J.M., Nurnberg, P., Altmuller, J., Moffatt, M.F., Wardlaw, A.J., Parker, S.G., Connolly, M.J., Koppelman, G.H. and Sayers, I.
FASEB Journal 28
(2): 923-934.
February 2014
NSUN4 is a dual function mitochondrial protein required for both methylation of 12S rRNA and coordination of mitoribosomal assembly.
Metodiev, M.D., Spåhr, H., Loguercio Polosa, P., Meharg, C., Becker, C., Altmueller, J., Habermann, B., Larsson, N.G. and Ruzzenente, B.
PLoS Genetics 10
(2): e1004110.
February 2014
Mutations in POGLUT1, encoding protein o-glucosyltransferase 1, cause autosomal-dominant Dowling-Degos disease.
Basmanav, F.B., Oprisoreanu, A.M., Pasternack, S.M., Thiele, H., Fritz, G., Wenzel, J., Größer, L., Wehner, M., Wolf, S., Fagerberg, C., Bygum, A., Altmüller, J., Rütten, A., Parmentier, L., El Shabrawi-Caelen, L., Hafner, C., Nürnberg, P., Kruse, R., Schoch, S., Hanneken, S. and Betz, R.C.
American Journal of Human Genetics 94
(1): 135-143.
2 January 2014
The genome of Romanomermis culicivorax: revealing fundamental changes in the core developmental genetic toolkit in Nematoda.
Schiffer, P.H., Kroiher, M., Kraus, C., Koutsovoulos, G.D., Kumar, S., Camps, J.I.R., Nsah, N.A., Stappert, D., Morris, K., Heger, P., Altmüller, J., Frommolt, P., Nürnberg, P., Thomas, W.K., Blaxter, M.L. and Schierenberg, E.
BMC Genomics 14
: 923.
27 December 2013
A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.
Wieczorek, D., Bögershausen, N., Beleggia, F., Steiner-Haldenstätt, S., Pohl, E., Li, Y., Milz, E., Martin, M., Thiele, H., Altmüller, J., Alanay, Y., Kayserili, H., Klein-Hitpass, L., Böhringer, S., Wollstein, A., Albrecht, B., Boduroglu, K., Caliebe, A., Chrzanowska, K., Cogulu, O., Cristofoli, F., Czeschik, J.C., Devriendt, K., Dotti, M.T., Elcioglu, N., Gener, B., Goecke, T.O., Krajewska-Walasek, M., Guillén-Navarro, E., Hayek, J., Houge, G., Kilic, E., Simsek-Kiper, P.Ö., López-González, V., Kuechler, A., Lyonnet, S., Mari, F., Marozza, A., Mathieu Dramard, M., Mikat, B., Morin, G., Morice-Picard, F., Ozkinay, F., Rauch, A., Renieri, A., Tinschert, S., Utine, G.E., Vilain, C., Vivarelli, R., Zweier, C., Nürnberg, P., Rahmann, S., Vermeesch, J., Lüdecke, H.J., Zeschnigk, M. and Wollnik, B.
Human Molecular Genetics 22
(25): 5121-5135.
20 December 2013
CDK6 associates with the centrosome during mitosis and is mutated in a large Pakistani family with primary microcephaly.
Hussain, M.S., Baig, S.M., Neumann, S., Peche, V.S., Szczepanski, S., Nürnberg, G., Tariq, M., Jameel, M., Khan, T.N., Fatima, A., Malik, N.A., Ahmad, I., Altmüller, J., Frommolt, P., Thiele, H., Höhne, W., Yigit, G., Wollnik, B., Neubauer, B.A., Nürnberg, P. and Noegel, A.A.
Human Molecular Genetics 22
(25): 5199-5214.
20 December 2013
Fine mapping and chromosome walking towards the Ror1 locus in barley (Hordeum vulgare L.).
Acevedo-Garcia, J., Collins, N.C., Ahmadinejad, N., Ma, L., Houben, A., Bednarek, P., Benjdia, M., Freialdenhoven, A., Altmüller, J., Nürnberg, P., Reinhardt, R., Schulze-Lefert, P. and Panstruga, R.
Theoretical and Applied Genetics 126
(12): 2969-2982.
December 2013
Comprehensive RNA-Seq expression analysis of sensory ganglia with a focus on ion channels and GPCRs in trigeminal ganglia.
Manteniotis, S., Lehmann, R., Flegel, C., Vogel, F., Hofreuter, A., Schreiner, B.S.P., Altmüller, J., Becker, C., Schöbel, N., Hatt, H. and Gisselmann, G.
PLoS ONE 8
(11): e79523.
8 November 2013
A de novo gain-of-function mutation in SCN11A causes loss of pain perception.
Leipold, E., Liebmann, L., Korenke, G.C., Heinrich, T., Giesselmann, S., Baets, J., Ebbinghaus, M., Goral, R.O., Stödberg, T., Hennings, J.C., Bergmann, M., Altmüller, J., Thiele, H., Wetzel, A., Nürnberg, P., Timmerman, Vi., De Jonghe, P., Blum, R., Schaible, H.G., Weis, J., Heinemann, S.H., Hübner, C.A. and Kurth, I.
Nature Genetics 45
(11): 1399-1404.
November 2013
A novel large in-frame deletion within the CACNA1F gene associates with a cone-rod dystrophy 3-like phenotype.
Hauke, J., Schild, A., Neugebauer, A., Lappa, A., Fricke, J., Fauser, S., Rösler, S., Pannes, A., Zarrinnam, D., Altmüller, J., Motameny, S., Nürnberg, G., Nürnberg, P., Hahnen, E. and Beck, B.B.
PLoS ONE 8
(10): e76414.
4 October 2013
Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunction.
Koehler, K., Malik, M., Mahmood, S., Gießelmann, S., Beetz, C., Hennings, J.C., Huebner, A.K., Grahn, A., Reunert, J., Nürnberg, G., Thiele, H., Altmüller, J., Nürnberg, P., Mumtaz, R., Babovic-Vuksanovic, D., Basel-Vanagaite, L., Borck, G., Brämswig, J., Mühlenberg, R., Sarda, P., Sikiric, A., Anyane-Yeboa, K., Zeharia, A., Ahmad, A., Coubes, C., Wada, Y., Marquardt, T., Vanderschaeghe, D., Van Schaftingen, E., Kurth, I., Huebner, A. and Hübner, C.A.
American Journal of Human Genetics 93
(4): 727-734.
3 October 2013
Sensitive detection of viral transcripts in human tumor transcriptomes.
Schelhorn, S.E., Fischer, M., Tolosi, L., Altmüller, J., Nürnberg, P., Pfister, H., Lengauer, T. and Berthold, F.
PLoS Computational Biology 9
(10): e1003228.
3 October 2013
RBFOX1 and RBFOX3 mutations in rolandic epilepsy.
Lal, D., Reinthaler, E.M., Altmüller, J., Toliat, M.R., Thiele, H., Nürnberg, P., Lerche, H., Hahn, A., Møller, R.S., Muhle, H., Sander, T., Zimprich, F. and Neubauer, B.A.
PLoS ONE 8
(9): e73323.
6 September 2013
SOX9 duplication linked to intersex in deer.
Kropatsch, R., Dekomien, G., Akkad, D.A., Gerding, W.M., Petrasch-Parwez, E., Young, N.D., Altmüller, J., Nürnberg, P., Gasser, R.B. and Epplen, J.T.
PLoS ONE 8
(9): e73734.
6 September 2013
Deep ion sequencing of amplicon adapter ligated libraries: a novel tool in molecular diagnostics of formalin fixed and paraffin embedded tissues.
Becker, K., Vollbrecht, C., Koitzsch, U., Koenig, K., Fassunke, J., Huss, S., Nuernberg, P., Heukamp, L.C., Buettner, R., Odenthal, M., Altmueller, J. and Merkelbach-Bruse, S.
Journal of Clinical Pathology 66
(9): 803-806.
1 September 2013
Impaired epidermal ceramide synthesis causes autosomal recessive congenital ichthyosis and reveals the importance of ceramide acyl chain length.
Eckl, K.M., Tidhar, R., Thiele, H., Oji, V., Hausser, I., Brodesser, S., Preil, M.L., Önal-Akan, A., Stock, F., Müller, D., Becker, K., Casper, R., Nürnberg, G., Altmüller, J., Nürnberg, P., Traupe, H., Futerman, A.H. and Hennies, H.C.
Journal of Investigative Dermatology 133
(9): 2202-2211.
September 2013
Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes.
Lemke, J.R., Lal, D., Reinthaler, E.M., Steiner, I., Nothnagel, M., Alber, M., Geider, K., Laube, B., Schwake, M., Finsterwalder, K., Franke, A., Schilhabel, M., Jähn, J.A., Muhle, H., Boor, R., Van Paesschen, W., Caraballo, R., Fejerman, N., Weckhuysen, S., De Jonghe, P., Larsen, J., Møller, R.S., Hjalgrim, H., Addis, L., Tang, S., Hughes, E., Pal, D.K., Veri, K., Vaher, U., Talvik, T., Dimova, P., Guerrero López, R., Serratosa, J.M., Linnankivi, T., Lehesjoki, A.E., Ruf, S., Wolff, M., Buerki, S., Wohlrab, G., Kroell, J., Datta, A.N., Fiedler, B., Kurlemann, G., Kluger, G., Hahn, A., Haberlandt, D.E., Kutzer, C., Sperner, J., Becker, F., Weber, Y.G., Feucht, M., Steinböck, H., Neophythou, B., Ronen, G.M., Gruber-Sedlmayr, U., Geldner, J., Harvey, R.J., Hoffmann, P., Herms, S., Altmüller, J., Toliat, M.R., Thiele, H., Nürnberg, P., Wilhelm, C., Stephani, U., Helbig, I., Lerche, H., Zimprich, F., Neubauer, B.A., Biskup, S. and von Spiczak, S.
Nature Genetics 45
(9): 1067-1072.
September 2013
Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability.
Bögershausen, N., Shahrzad, N., Chong, J.X., von Kleist-Retzow, J.C., Stanga, D., Li, Y., Bernier, F.P., Loucks, C.M., Wirth, R., Puffenberger, E.G., Hegele, R.A., Schreml, J., Lapointe, G., Keupp, K., Brett, C.L., Anderson, R., Hahn, A., Innes, A.M., Suchowersky, O., Mets, M.B., Nürnberg, G., McLeod, D.R., Thiele, H., Waggoner, D., Altmüller, J., Boycott, K.M., Schoser, B., Nürnberg, P., Ober, C., Heller, R., Parboosingh, J.S., Wollnik, B., Sacher, M. and Lamont, R.E.
American Journal of Human Genetics 93
(1): 181-190.
11 July 2013
Do not trust the pedigree: reduced and sex-dependent penetrance at a novel mutation hotspot in ATL1 blurs autosomal dominant inheritance of spastic paraplegia.
Varga, R.E., Schüle, R., Fadel, H., Valenzuela, I., Speziani, F., Gonzalez, M., Rudenskaia, G., Nürnberg, G., Thiele, H., Altmüller, J., Alvarez, V., Gamez, J., Garbern, J.Y., Nürnberg, P., Zuchner, S. and Beetz, C.
Human Mutation 34
(6): 860-863.
20 May 2013
Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome.
Lemaire, M., Frémeaux-Bacchi, V., Schaefer, F., Choi, M., Tang, W.H., Le Quintrec, M., Fakhouri, F., Taque, S., Nobili, F., Martinez, F., Ji, W., Overton, J.D., Mane, S.M., Nürnberg, G., Altmüller, J., Thiele, H., Morin, D., Deschenes, G., Baudouin, V., Llanas, B., Collard, L., Majid, M.A., Simkova, E., Nürnberg, P., Rioux-Leclerc, N., Moeckel, G.W., Gubler, M.C., Hwa, J., Loirat, C. and Lifton, R.P.
Nature Genetics 45
(5): 531-536.
May 2013
Inhibition of TFG function causes hereditary axon degeneration by impairing endoplasmic reticulum structure.
Beetz, C., Johnson, A., Schuh, A.L., Thakur, S., Varga, R.E., Fothergill, T., Hertel, N., Bomba-Warczak, E., Thiele, H., Nürnberg, G., Altmüller, J., Saxena, R., Chapman, E.R., Dent, E.W., Nürnberg, P. and Audhya, A.
Proceedings of the National Academy of Sciences of the United States of America 110
(13): 5091-5096.
26 March 2013
Human trace amine-associated receptor TAAR5 can be activated by trimethylamine.
Wallrabenstein, I., Kuklan, J., Weber, L., Zborala, S., Werner, M., Altmüller, J., Becker, C., Schmidt, A., Hatt, H., Hummel, T. and Gisselmann, G.
PLoS ONE 8
(2): e54950.
5 February 2013
Next generation sequencing of the Ago2 interacting transcriptome identified chemokine family members as novel targets of neuronal microRNAs in hepatic stellate cells.
Noetel, A., Elfimova, N., Altmüller, J., Becker, C., Becker, D., Lahr, W., Nürnberg, P., Wasmuth, H., Teufel, A., Büttner, R., Dienes, H.P. and Odenthal, M.
Journal of Hepatology 58
(2): 335-341.
February 2013
Phenotypic and genetic heterogeneity in a genome-wide linkage study of asthma families.
Altmüller, J., Seidel, C., Lee, Y.A., Loesgen, S., Bulle, D., Friedrichs, F., Jellouschek, H., Kelber, J., Keller, A., Schuster, A., Silbermann, M., Wahlen, W., Wolff, P., Rueschendorf, F., Schlenvoigt, G., Nuernberg, P. and Wjst, M.
BMC Pulmonary Medicine 5
: 1.
5 January 2005
A genome-wide screen on the genetics of atopy in a multiethnic European population reveals a major atopy locus on chromosome 3q21.3.
Kurz, T., Altmueller, J., Strauch, K., Rueschendorf, F., Heinzmann, A., Moffatt, M.F., Cookson, W.O.C.M., Inacio, F., Nuernberg, P., Stassen, H.H. and Deichmann, K.A.
Allergy 60
: 192-199.
1 January 2005
STAT6 as an asthma candidate gene: polymorphism-screening, association and haplotype analysis in a Caucasian sib-pair study.
Duetsch, G., Illig, T., Loesgen, S., Rohde, K., Klopp, N., Herbon, N., Gohlke, H., Altmueller, J. and Wjst, M.
Human Molecular Genetics 11
(6): 613-621.
1 January 2002
Review
Single cell‐ and spatial 'omics revolutionize physiology.
Conrad, T. and Altmüller, J.
Acta Physiologica 235
(4): e13848.
August 2022
A comparison of metabolic labeling and statistical methods to infer genome-wide dynamics of RNA turnover.
Boileau, E., Altmüller, J., Naarmann-de Vries, I.S. and Dieterich, C.
Briefings in Bioinformatics 22
(6): bbab219.
November 2021
Clinical and genetic findings in a family with NMNAT1-associated Leber congenital amaurosis: case report and review of the literature.
Hedergott, A., Volk, A.E., Herkenrath, P., Thiele, H., Fricke, J., Altmüller, J., Nürnberg, P., Kubisch, C. and Neugebauer, A.
Graefes Archive for Clinical and Experimental Ophthalmology 253
(12): 2239-2246.
December 2015
Letter
Mutant phosphodiesterase 3A protects the kidney from hypertension-induced damage.
Sholokh, A., Walter, S., Markó, L., McMurray, B.J., Sunaga-Franze, D.Y., Xu, M., Zühlke, K., Russwurm, M., Bartolomaeus, T.U.P., Langanki, R., Qadri, F., Heuser, A., Patzak, A., Forslund, S.K., Bähring, S., Borodina, T., Persson, P.B., Maass, P.G., Bader, M. and Klussmann, E.
Kidney International 104
(2): 388-393.
August 2023
A novel MAP3K20 mutation causing centronuclear myopathy-6 with fiber-type disproportion in a Pakistani family.
Ahmad, I., Khan, A., Noor Ul Ayan, H., Budde, B., Altmüller, J., Korejo, A.A., Nürnberg, G., Thiele, H., Tariq, M., Nürnberg, P. and Erdmann, J.
Journal of Human Genetics
11 October 2022
The splicing factor XAB2 interacts with ERCC1-XPF and XPG for R-loop processing.
Goulielmaki, E., Tsekrekou, M., Batsiotos, N., Ascensão-Ferreira, M., Ledaki, E., Stratigi, K., Chatzinikolaou, G., Topalis, P., Kosteas, T., Altmüller, J., Demmers, J.A., Barbosa-Morais, N.L. and Garinis, G.A.
Nature Communications 12
(1): 3153.
26 May 2021
Intestinal-cell kinase and juvenile myoclonic epilepsy.
Lerche, H., Berkovic, S.F. and Lowenstein, D.H.
New England Journal of Medicine 380
(16): e24.
18 April 2019
Coinheritance of biallelic SLURP1 and SLC39A4 mutations cause a severe genodermatosis with skin peeling and hair loss all over the body.
Harms, F.L., Nampoothiri, S., Kortüm, F., Thomas, J., Panicker, V.V., Alawi, M., Altmüller, J., Yesodharan, D. and Kutsche, K.
British Journal of Dermatology 179
(5): 1192-1194.
1 November 2018
Senior-Løken syndrome with IQCB1 mutation in Taiwan.
Yu, P.H., Kuo, Y.R., Altmüller, J. and Hwang, D.Y.
Kaohsiung Journal of Medical Sciences 34
(10): 588-589.
October 2018
Functional implications of novel ADAM10 mutations in reticulate acropigmentation of Kitamura.
Ralser, D.J., Lestringant, G.G., Du-Thanh, A., Kokordelis, P., Fischer, J., Basmanav, F.B.Ü., Wolf, S., Thiele, H., Altmüller, J., Nürnberg, P., Oji, V., Fritz, G., Frank, J. and Betz, R.C.
British Journal of Dermatology 177
(6): e340-e343.
8 January 2018
Metatarsal bony syndactyly in 2 fetuses with Smith-Lemli-Opitz syndrome: An under-recognized part of the clinical spectrum.
Moosa, S., Loeys, B., Altmüller, J., Mortier, G., Nürnberg, P., Li, Y., Wollnik, B. and Vogel, I.
Clinical Genetics 92
(3): 342-343.
September 2017
A novel homozygous PAM16 mutation in a patient with a milder phenotype and longer survival.
Moosa, S., Fano, V., Obregon, M.G., Altmüller, J., Thiele, H., Nürnberg, P., Nishimura, G. and Wollnik, B.
American Journal of Medical Genetics Part A 170
(9): 2436-2439.
September 2016
Mutations in SEC24D cause autosomal recessive osteogenesis imperfecta.
Moosa, S., Chung, B.H.Y., Tung, J.Y.L., Altmüller, J., Thiele, H., Nürnberg, P., Netzer, C., Nishimura, G. and Wollnik, B.
Clinical Genetics 89
(4): 517-519.
April 2016
Pathogenicity of POFUT1 in Dowling-Degos disease: additional mutations and clinical overlap with reticulate acropigmentation of kitamura.
Basmanav, F.B., Fritz, G., Lestringant, G.G., Pachat, D., Hoffjan, S., Fischer, J., Wehner, M., Wolf, S., Thiele, H., Altmüller, J., Pulimood, S.A., Rütten, A., Kruse, R., Hanneken, S., Frank, J., Danda, S., Bygum, A. and Betz, R.C.
Journal of Investigative Dermatology 135
(2): 615-618.
February 2015
Homozygous missense mutation of NDUFV1 as the cause of infantile bilateral striatal necrosis.
Lal, D., Becker, K., Motameny, S., Altmüller, J., Thiele, H., Nürnberg, P., Ahting, U., Rolinski, B., Neubauer, B.A. and Hahn, A.
Neurogenetics 14
(1): 85-87.
February 2013
Preprint
Engineered vasculature induces functional maturation of pluripotent stem cell-derived islet organoids.
Nguyen-Ngoc, K.V., Jun, Y., Sai, S., Bender, R.H.F., Kravets, V., Zhu, H., Hatch, C.J., Schlichting, M., Gaetani, R., Mallick, M., Hachey, S.J., Christman, K.L., George, S.C., Hughes, C.C.W. and Sander, M.
bioRxiv
: 2022.10.28.513298.
30 October 2022
Diverse but unique astrocytic phenotypes during embryonic stem cell differentiation, culturing and aging.
Freitag, K., Eede, P., Ivanov, A., Schneeberger, S., Borodina, T., Sauer, S., Beule, D. and Heppner, F.L.
bioRxiv
: 2021.08.02.454573v1.
28 November 2021
UPF3A and UPF3B are redundant and modular activators of nonsense-mediated mRNA decay in human cells.
Wallmeroth, D., Boehm, V., Lackmann, J.W., Altmüller, J., Dieterich, C. and Gehring, N.H.
bioRxiv
: 2021.07.07.451444.
13 July 2021
The neuroinflammatory interleukin-12 signaling pathway drives Alzheimer's disease-like pathology by perturbing oligodendrocyte survival and neuronal homeostasis.
Schneeberger, S., Kim, S.J., Eede, P., Boltengagen, A., Braeuning, C., Andreadou, M., Becher, B., Karaiskos, N., Kocks, C., Rajewsky, N. and Heppner, F.L.
bioRxiv
: 2021.04.25.441313.
27 April 2021
Dissecting HSV-1-induced host shut-off at RNA level.
Friedel, C.C., Whisnant, A.W., Djakovic, L., Rutkowski, A.J., Friedl, M.S., Kluge, M., Williamson, J.C., Sai, S., Oliveira Vidal, R., Sauer, S., Hennig, T., Prusty, B., Lehner, P.J., Matheson, N.J., Erhard, F. and Dölken, L.
bioRxiv
: 2020.05.20.106039.
20 May 2020
Single cell RNA-sequencing-based analysis of CD4(+) T-cell subset-specific susceptibility to transcriptional modulation by HIV-1 latency-reversing agents.
Kazmierski, J., Postmus, D., Wyler, E., Fischer, C., Jansen, J., Meixenberger, K., Vitcetz, S.N., Sohn, M., Sauer, S., Bannert, N., Landthaler, M. and Goffinet, C.
bioRxiv
: 2020.05.04.075119.
5 May 2020
This list was generated on Wed Nov 20 13:18:22 2024 UTC.
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