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Diverse but unique astrocytic phenotypes during embryonic stem cell differentiation, culturing and development.
Freitag, K. and Eede, P. and Ivanov, A. and Sterczyk, N. and Schneeberger, S. and Borodina, T. and Sauer, S. and Beule, D. and Heppner, F.L.
Communications Biology 6 (1): 40. 13 January 2023

LZTR1 polymerization provokes cardiac pathology in recessive Noonan syndrome.
Busley, A.V. and Gutiérrez-Gutiérrez, O. and Hammer, E. and Steinegger, M. and Böhmer, L. and Schroeder, H. and Kleinsorge, M. and Altmüller, J. and Marbach, F. and Hasenfuss, G. and Zimmermann, W.H. and Wollnik, B. and Cyganek, L.
bioRxiv : 2023.01.10.523203. 10 January 2023


Npl3 functions in mRNP assembly by recruitment of mRNP components to the transcription site and their transfer onto the mRNA.
Keil, P. and Wulf, A. and Kachariya, N. and Reuscher, S. and Hühn, K. and Silbern, I. and Altmüller, J. and Keller, M. and Stehle, R. and Zarnack, K. and Sattler, M. and Urlaub, H. and Sträßer, K.
Nucleic Acids Research : gkac1206. 30 December 2022

Expanding the spectrum of EEF1D neurodevelopmental disorders: biallelic variants in the guanine exchange domain.
Averdunk, L. and Al-Thihli, K. and Surowy, H. and Lüdecke, H.J. and Drechsler, M. and Yigit, G. and Smorag, L. and Hallak, B.A. and Li, Y. and Altmüller, J. and Guthoff, T. and Wallot, M. and Nürnberg, P. and Wollnik, B. and Abou Jamra, R. and Al-Maawali, A. and Wieczorek, D.
Clinical Genetics 28 December 2022 (In Press)

A single-cell RNA labeling strategy for measuring stress response upon tissue dissociation.
Neuschulz, A. and Bakina, O. and Badillo Lisakowski, V. and Olivares-Chauvet, P. and Conrad, T. and Gotthardt, M. and Kettenmann, H. and Junker, J.P.
Molecular Systems Biology : e11147. 27 December 2022 (In Press)

SARS-CoV-2 infection dynamics revealed by wastewater sequencing analysis and deconvolution.
Schumann, V.F. and de Castro Cuadrat, R.R. and Wyler, E. and Wurmus, R. and Deter, A. and Quedenau, C. and Dohmen, J. and Faxel, M. and Borodina, T. and Blume, A. and Freimuth, J. and Meixner, M. and Grau, J.H. and Liere, K. and Hackenbeck, T. and Zietzschmann, F. and Gnirss, R. and Böckelmann, U. and Uyar, B. and Franke, V. and Barke, N. and Altmüller, J. and Rajewsky, N. and 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. and Mücke, M.B. and Pallien, T. and Markó, L. and Sholokh, A. and Schächterle, C. and Aydin, A. and Kidd, A. and Walter, S. and Esmati, Y. and McMurray, B.J. and Lato, D.F. and Sunaga-Franze, D.Y. and Dierks, P.H. and Flores, B.I.M. and Walker-Gray, R. and Gong, M. and Merticariu, C. and Zühlke, K. and Russwurm, M. and Liu, T. and Batolomaeus, T.U.P. and Pautz, S. and Schelenz, S. and Taube, M. and Napieczynska, H. and Heuser, A. and Eichhorst, J. and Lehmann, M. and Miller, D.C. and Diecke, S. and Qadri, F. and Popova, E. and Langanki, R. and Movsesian, M.A. and Herberg, F.W. and Forslund, S.K. and Müller, D.N. and Borodina, T. and Maass, P.G. and Bähring, S. and Hübner, N. and 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. and Ellinghaus, D. and Juzenas, S. and Lerga-Jaso, J. and Wendorff, M. and Maya-Miles, D. and Uellendahl-Werth, F. and ElAbd, H. and Rühlemann, M.C. and Arora, J. and Özer, O. and Lenning, O.B. and Myhre, R. and Vadla, M.S. and Wacker, E.M. and Wienbrandt, L. and Ortiz, A.B. and de Salazar, A. and Chercoles, A.G. and Palom, A. and Ruiz, A. and Garcia-Fernandez, A.E. and Blanco-Grau, A. and Mantovani, A. and Zanella, A. and Holten, A.R. and Mayer, A. and Bandera, A. and Cherubini, A. and Protti, A. and Aghemo, A. and Gerussi, A. and Ramirez, A. and Braun, A. and Nebel, A. and Barreira, A. and Lleo, A. and Teles, A. and Kildal, A.B. and Biondi, A. and Caballero-Garralda, A. and Ganna, A. and Gori, A. and Glück, A. and Lind, A. and Tanck, A. and Hinney, A. and Nolla, A.C. and Fracanzani, A.L. and Peschuck, A. and Cavallero, A. and Dyrhol-Riise, A.M. and Ruello, A. and Julià, A. and Muscatello, A. and Pesenti, A. and Voza, A. and Rando-Segura, A. and Solier, A. and Schmidt, A. and Cortes, B. and Mateos, B. and Nafria-Jimenez, B. and Schaefer, B. and Jensen, B. and Bellinghausen, C. and Maj, C. and Ferrando, C. and Horra, C. and Quereda, C. and Skurk, C. and Thibeault, C. and Scollo, C. and Herr, C. and Spinner, C.D. and Gassner, C. and Lange, C. and Hu, C. and Paccapelo, C. and Lehmann, C. and Angelini, C. and Cappadona, C. and Azuure, C. and Bianco, C. and Cea, C. and Sancho, C. and Hoff, D.A.L. and Galimberti, D. and Prati, D. and Haschka, D. and Jiménez, D. and Pestaña, D. and Toapanta, D. and Muñiz-Diaz, E. and Azzolini, E. and Sandoval, E. and Binatti, E. and Scarpini, E. and Helbig, E.T. and Casalone, E. and Urrechaga, E. and Paraboschi, E.M. and Pontali, E. and Reverter, E. and Calderón, E.J. and Navas, E. and Solligård, E. and Contro, E. and Arana-Arri, E. and Aziz, F. and Garcia, F. and Sánchez, F.G. and Ceriotti, F. and Martinelli-Boneschi, F. and Peyvandi, F. and Kurth, F. and Blasi, F. and Malvestiti, F. and Medrano, F.J. and Mesonero, F. and Rodriguez-Frias, F. and Hanses, F. and Müller, F. and Hemmrich-Stanisak, G. and Bellani, G. and Grasselli, G. and Pezzoli, G. and Costantino, G. and Albano, G. and Cardamone, G. and Bellelli, G. and Citerio, G. and Foti, G. and Lamorte, G. and Matullo, G. and Baselli, G. and Kurihara, H. and Neb, H. and My, I. and Kurth, I. and Hernández, I. and Pink, I. and Rojas, I. and Galván-Femenia, I. and Holter, J.C. and Afset, J.E. and Heyckendorf, J. and Kässens, J. and Damås, J.K. and Rybniker, J. and Altmüller, J. and Ampuero, J. and Martín, J. and Erdmann, J. and Banales, J.M. and Badia, J.R. and Dopazo, J. and Schneider, J. and Bergan, J. and Barretina, J. and Walter, J. and Quero, J.H. and Goikoetxea, J. and Delgado, J. and Guerrero, J.M. and Fazaal, J. and Kraft, J. and Schröder, J. and Risnes, K. and Banasik, K. and Müller, K.E. and Gaede, K.I. and Garcia-Etxebarria, K. and Tonby, K. and Heggelund, L. and Izquierdo-Sanchez, L. and Bettini, L.Rachele and Sumoy, L. and Sander, L.E. and Lippert, L.J. and Terranova, L. and Nkambule, L. and Knopp, L. and Gustad, L.T. and Garbarino, L. and Santoro, L. and Téllez, L. and Roade, L. and Ostadreza, M. and Intxausti, M. and Kogevinas, M. and Riveiro-Barciela, M. and Berger, M.M. and Schaefer, M. and Niemi, M.E.K. and Gutiérrez-Stampa, M.A. and Carrabba, M. and Figuera Basso, M.E. and Valsecchi, M.G. and Hernandez-Tejero, M. and Vehreschild, M.J.G.T and Manunta, M. and Acosta-Herrera, M. and D'Angiò, M. and Baldini, M. and Cazzaniga, M. and Grimsrud, M.M. and Cornberg, M. and Nöthen, M.M. and Marquié, M. and Castoldi, M. and Cordioli, M. and Cecconi, M. and D'Amato, M. and Augustin, M. and Tomasi, M. and Boada, M. and Dreher, M. and Seilmaier, M.J. and Joannidis, M. and Wittig, M. and Mazzocco, M. and Ciccarelli, M. and Rodríguez-Gandía, M. and Bocciolone, M. and Miozzo, M. and Ayo, N.I. and Blay, N. and Chueca, N. and Montano, N. and Braun, N. and Ludwig, N. and Marx, N. and Martínez, N. and Cornely, O.A. and Witzke, O. and Palmieri, O. and Faverio, P. and Preatoni, P. and Bonfanti, P. and Omodei, P. and Tentorio, P. and Castro, P. and Rodrigues, P.M. and España, P.P. and Hoffmann, P. and Rosenstiel, P. and Schommers, P. and Suwalski, P. and Pablo, R. and Ferrer, R. and Bals, R. and Gualtierotti, R. and Gallego-Durán, R. and Nieto, R. and Carpani, R. and Morilla, R. and Badalamenti, S. and Haider, S. and Ciesek, S. and May, S. and Bombace, S. and Marsal, S. and Pigazzini, S. and Klein, S. and Pelusi, S. and Wilfling, S. and Bosari, S. and Volland, S. and Brunak, S. and Raychaudhuri, S. and Schreiber, S. and Heilmann-Heimbach, S. and Aliberti, S. and Ripke, S. and Dudman, S. and Wesse, T. and Zheng, T. and Bahmer, T. and Eggermann, T. and Illig, T. and Brenner, T. and Pumarola, T. and Feldt, T. and Folseraas, T. and Cejudo, T.G. and Landmesser, U. and Protzer, U. and Hehr, U. and Rimoldi, V. and Monzani, V. and Skogen, V. and Keitel, V. and Kopfnagel, V. and Friaza, V. and Andrade, V. and Moreno, V. and Albrecht, W. and Peter, W. and Poller, W. and Farre, X. and Yi, X. and Wang, X. and Khodamoradi, Y. and Karadeniz, Z. and Latiano, A. and Goerg, S. and Bacher, P. and Koehler, P. and Tran, F. and Zoller, H. and Schulte, E.C. and Heidecker, B. and Ludwig, K.U. and Fernández, J. and Romero-Gómez, M. and Albillos, A. and Invernizzi, P. and Buti, M. and Duga, S. and Bujanda, L. and Hov, J.R. and Lenz, T.L. and Asselta, R. and Cid, R. and Valenti, L. and Karlsen, T.H. and 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. and Jais, A. and Klemm, P. and Steuernagel, L. and Wienand, P. and Fog-Tonnesen, M. and Hvid, H. and Schumacher, A.L. and Kukat, C. and Nolte, H. and Georgomanolis, T. and Altmüller, J. and Pasparakis, M. and Schmidt, A. and Krüger, M. and Supprian, M.S. and Waisman, A. and Straub, B.K. and Raschzok, N. and Bernier, M. and Birkenfeld, A.L. and Hövelmeyer, N. and 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. and Beckmann, L. and Grimm, C. and Oliverio, M. and Meder, L. and Herling, C.D. and Nieper, P. and Feldmann, T. and Merkel, O. and Lorsy, E. and da Palma Guerreiro, A. and von Jan, J. and Kisis, I. and Wasserburger, E. and Claasen, J. and Faitschuk-Meyer, E. and Altmüller, J. and Nürnberg, P. and Yang, T.P. and Lienhard, M. and Herwig, R. and Kreuzer, K.A. and Pallasch, C.P. and Buettner, R. and Schäfer, S.C. and Hartley, J. and Abken, H. and Peifer, M. and Kashkar, H. and Knittel, G. and Eichhorst, B. and Ullrich, R.T. and Herling, M. and Reinhardt, H.C. and Hallek, M. and 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. and Dreha-Kulaczewski, S. and Zafeiriou, M.P. and Schreiber, M.K. and Wilken, B. and Funke, R. and Neuhofer, C.M. and Altmüller, J. and Thiele, H. and Nürnberg, P. and Biskup, S. and Li, Y. and Zimmermann, W.H. and Kaulfuß, S. and Yigit, G. and Wollnik, B.
Frontiers in Cell and Developmental Biology 10 : 1025332. 16 November 2022

Modeling of ACTN4-based podocytopathy using Drosophila nephrocytes.
Odenthal, J. and Dittrich, S. and Ludwig, V. and Merz, T. and Reitmeier, K. and Reusch, B. and Höhne, M. and Cosgun, Z.C. and Hohenadel, M. and Putnik, J. and Göbel, H. and Rinschen, M.M. and Altmüller, J. and Koehler, S. and Schermer, B. and Benzing, T. and Beck, B.B. and Brinkkötter, P.T. and Habbig, S. and Bartram, M.P.
Kidney International Reports 31 October 2022 (In Press)

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 and Belhaj, S. and Tawalbeh, E. and Nagels, D. and Fröhlich, Y. and Finzer, P. and Ciruela, P. and Sabrià, A. and Herrero, M. and Andrés, C. and Antón, A. and Benmoumene, A. and Asskali, D. and Haidar, H. and von Dahlen, J. and Nicolai, J. and Stiller, M. and Blum, J. and Lange, C. and Adelmann, C. and Schroer, B. and Osmers, U. and Grice, C. and Kirfel, P.P. and Jomaa, H. and Strelow, D. and Hülse, L. and Pigulla, M. and Kreuzer, P. and Tyshaieva, A. and Weber, J. and Wienemann, T. and Kohns Vasconcelos, M. and Hoffmann, K. and Lübke, N. and Hauka, S. and Andree, M. and Scholz, C.J. and Jazmati, N. and Göbels, K. and Zotz, R. and Pfeffer, K. and Timm, J. and Ehlkes, L. and Walker, A. and Dilthey, A.T.
Eurosurveillance 27 (43): 2101089. 27 October 2022

The genomic landscape across 474 surgically accessible epileptogenic human brain lesions.
López-Rivera, J.A. and Leu, C. and Macnee, M. and Khoury, J. and Hoffmann, L. and Coras, R. and Kobow, K. and Bhattarai, N. and Pérez-Palma, E. and Hamer, H. and Brandner, S. and Rössler, K. and Bien, C.G. and Kalbhenn, T. and Pieper, T. and Hartlieb, T. and Butler, E. and Genovese, G. and Becker, K. and Altmüller, J. and Niestroj, L.M. and Ferguson, L. and Busch, R.M. and Nürnberg, P. and Najm, I. and Blümcke, I. and Lal, D.
Brain : awac376. 13 October 2022 (In Press)

A novel MAP3K20 mutation causing centronuclear myopathy-6 with fiber-type disproportion in a Pakistani family.
Ahmad, I. and Khan, A. and Noor Ul Ayan, H. and Budde, B. and Altmüller, J. and Korejo, A.A. and Nürnberg, G. and Thiele, H. and Tariq, M. and Nürnberg, P. and Erdmann, J.
Journal of Human Genetics 11 October 2022

Candesartan does not activate PPAR(γ) and its target genes in early gestation trophoblasts.
Neuper, L. and Kummer, D. and Forstner, D. and Guettler, J. and Ghaffari-Tabrizi-Wizsy, N. and Fischer, C. and Juch, H. and 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. and Krawczyk, H.E. and Jamra, R.A. and Lin, S.J. and Yigit, G. and Hüning, I. and Polo, A.M. and Vona, B. and Huang, K. and Schmidt, J. and Altmüller, J. and Luppe, J. and Platzer, K. and Dörgeloh, B.B. and Busche, A. and Biskup, S. and Mendes, M.I. and Smith, D.E.C. and Salomons, G.S. and Zibat, A. and Bültmann, E. and Nürnberg, P. and Spielmann, M. and Lemke, J.R. and Li, Y. and Zenker, M. and Varshney, G.K. and Hillen, H.S. and Kratz, C.P. and Wollnik, B.
Human Mutation 43 (10): 1454-1471. October 2022

Reliable assessment of telomere maintenance mechanisms in neuroblastoma.
Meeser, A. and Bartenhagen, C. and Werr, L. and Hellmann, A.M. and Kahlert, Y. and Hemstedt, N. and Nürnberg, P. and Altmüller, J. and Ackermann, S. and Hero, B. and Simon, T. and Peifer, M. and 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. and Erger, F. and Altmüller, J. and Wenzel, A. and Thiele, H. and Harth, A. and Tschernoster, N. and Lokhande, S. and Joerres, A. and Becker, J.U. and Ekici, A. and Huettel, B. and 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. and Jepsen, W.M. and Efthymiou, S. and Salpietro, V. and Sanchez-Castillo, M. and Yip, J. and Kriouile, Y. and Diegmann, S. and Dreha-Kulaczewski, S. and Altmüller, J. and Thiele, H. and Nürnberg, P. and Toosi, M.B. and Akhondian, J. and Ghayoor Karimiani, E. and Hummel-Abmeier, H. and Huppke, B. and Houlden, H. and Gärtner, J. and 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. and Li, X. and Naarmann-de Vries, I.S. and Becker, C. and Casper, R. and Altmüller, J. and Leuschner, F. and Dieterich, C.
Frontiers in Genetics 13 : 912572. 22 July 2022

Npl3 functions in mRNP assembly by recruitment of mRNP components to the transcription site and their transfer onto the mRNA.
Keil, P. and Wulf, A. and Kachariya, N. and Reuscher, S. and Hühn, K. and Silbern, I. and Altmüller, J. and Stehle, R. and Zarnack, K. and Sattler, M. and Urlaub, H. and Sträßer, K.
bioRxiv : 2022.07.22.501171. 22 July 2022

De novo variants of CSNK2B cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathway.
Asif, M. and Kaygusuz, E. and Shinawi, M. and Nickelsen, A. and Hsieh, T.C. and Wagle, P. and Budde, B. and Hochscherf, J. and Abdullah, U. and Höning, S. and Nienberg, C. and Lindenblatt, D. and Noegel, A.A. and Altmüller, J. and Thiele, H. and Motameny, S. and Fleischer, N. and Segal, I. and Pais, L. and Tinschert, S. and Samra, N.G. and Savatt, J.M. and Rudy, N.L. and De Luca, C. and Fortugno, P. and White, S.M. and Krawitz, P. and Hurst, A.C.E. and Niefind, K. and Jose, J. and Brancati, F. and 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. and Weber-Lassalle, N. and Joly-Beauparlant, C. and Ernst, C. and Droit, A. and Feng, B.J. and Dubois, S. and Collin-Deschesnes, A.C. and Soucy, P. and Vallée, M. and Fournier, F. and Lemaçon, A. and Adank, M.A. and Allen, J. and Altmüller, J. and Arnold, N. and Ausems, M.G.E.M. and Berutti, R. and Bolla, M.K. and Bull, S. and Carvalho, S. and Cornelissen, S. and Dufault, M.R. and Dunning, A.M. and Engel, C. and Gehrig, A. and Geurts-Giele, W.R.R. and Gieger, C. and Green, J. and Hackmann, K. and Helmy, M. and Hentschel, J. and Hogervorst, F.B.L. and Hollestelle, A. and Hooning, M.J. and Horváth, J. and Ikram, M.A. and Kaulfuß, S. and Keeman, R. and Kuang, D. and Luccarini, C. and Maier, W. and Martens, J.W.M. and Niederacher, D. and Nürnberg, P. and Ott, C.E. and Peters, A. and Pharoah, P.D.P. and Ramirez, A. and Ramser, J. and Riedel-Heller, S. and Schmidt, G. and Shah, M. and Scherer, M. and Stäbler, A. and Strom, T.M. and Sutter, C. and Thiele, H. and van Asperen, C.J. and van der Kolk, L. and van der Luijt, R.B. and Volk, A.E. and Wagner, M. and Waisfisz, Q. and Wang, Q. and Wang-Gohrke, S. and Weber, B.H.F. and Devilee, P. and Tavtigian, S. and Bader, G.D. and Meindl, A. and Goldgar, D.E. and Andrulis, I.L. and Schmutzler, R.K. and Easton, D.F. and Schmidt, M.K. and 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. and Borde, J. and Möllenhoff, K. and Kayali, M. and Ernst, C. and Gehrig, A. and Sutter, C. and Ramser, J. and Niederacher, D. and Horváth, J. and Arnold, N. and Meindl, A. and Auber, B. and Rump, A. and Wang-Gohrke, S. and Ritter, J. and Hentschel, J. and Thiele, H. and Altmüller, J. and Nürnberg, P. and Rhiem, K. and Engel, C. and Wappenschmidt, B. and Schmutzler, R.K. and 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. and Sterczyk, N. and Wendlinger, S. and Obermayer, B. and Schulz, J. and Farztdinov, V. and Mülleder, M. and Ralser, M. and Houtman, J. and Fleck, L. and Braeuning, C. and Sansevrino, R. and Hoffmann, C. and Milovanovic, D. and Sigrist, S.J. and Conrad, T. and Beule, D. and 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. and Altmüller, J. and Quedenau, C. and Borodina, T. and Nouailles, G. and Teixeira Alves, L.G. and Landthaler, M. and Bieniara, M. and Trimpert, J. and Wyler, E.
Genome Biology and Evolution 14 (7): evac100. July 2022

Tongue immune compartment analysis reveals spatial macrophage heterogeneity.
Lyras, E.M. and Zimmermann, K. and Wagner, L.K. and Dörr, D. and Klose, C.S.N and Fischer, C. and Jung, S. and Yona, S. and Hovav, A.H. and Stenzel, W. and Dommerich, S. and Conrad, T. and 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. and Lackmann, J.W. and Altmüller, J. and Dieterich, C. and Boehm, V. and Gehring, N.H.
Nucleic Acids Research 50 (10): 5899-5918. 10 June 2022

Single cell‐ and spatial 'omics revolutionize physiology.
Conrad, T. and Altmüller, J.
Acta Physiologica : e13848. 2 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. and Erger, F. and Walsh, P.R. and McNicholas, B. and Fistrek, M. and Habbig, S. and Schumacher, L. and Folz-Donahue, K. and Kukat, C. and Toliat, M.R. and Becker, C. and Thiele, H. and Kavanagh, D. and Nürnberg, P. and 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. and Escobar, H. and Sunaga-Franze, D.Y. and Sauer, S. and 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. and Sheffer, R. and Daana, M. and Li, Y. and Kaygusuz, E. and Mor-Shakad, H. and Altmüller, J. and Nürnberg, P. and Douiev, L. and Kaulfuss, S. and Burfeind, P. and 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. and Lackmann, J.W. and Kueckelmann, S. and Altmüller, J. and Dieterich, C. and Boehm, V. and Gehring, N.H.
EMBO Journal 41 (10): e109191. 16 May 2022

RNA modification mapping with JACUSA2.
Piechotta, M. and Naarmann-de Vries, I.S. and Wang, Q. and 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. and Stachelscheid, J. and Bley, N. and Oberbeck, S. and Otte, M. and Müller, T.A. and Wahnschaffe, L. and Glaß, M. and Ommer, K. and Franitza, M. and Gathof, B. and Altmüller, J. and Hallek, M. and Auguin, D. and Hüttelmaier, S. and 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. and Zech, M. and Hempel, M. and Altmüller, J. and Heung, T. and Pölsler, L. and Santer, R. and Thiele, H. and Trost, B. and Kubisch, C. and Scherer, S.W. and Rudnik-Schöneborn, S. and 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. and Elcioglu, N.H. and Martinez Grijalva, C. and Aras, S. and Großmann, N. and Praulich, I. and Altmüller, J. and Kaulfuß, S. and Li, Y. and Nürnberg, P. and Burfeind, P. and 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. and Woestefeld, J. and Döpper, H. and Bozet, M. and Brenzel, A. and Altmüller, J. and Kilpert, F. and Lohmann, D. and 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. and Mocanu, I.D. and Abdullah, U. and Höhne, W. and Altmüller, J. and Makhdoom, E.U.H. and Thiele, H. and Baig, S.M. and Nürnberg, P. and 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. and Himmerkus, N. and Meoli, L. and Fromm, A. and Sewerin, S. and Kriuchkova, N. and Nagel, O. and Ladilov, Y. and Krug, S. and Quintanova, C. and Stumpp, M. and Garbe-Schönberg, D. and Westernströer, U. and Merkel, C. and Brinkhus, M. and Altmüller, J. and Schweiger, M. and Mueller, D. and Mutig, K. and Morawski, M. and Halbritter, J. and Milatz, S. and Bleich, M. and Günzel, D.
Journal of the American Society of Nephrology 33 (4): 699-717. April 2022

Association of ultra-rare coding variants with genetic generalized epilepsy: a case-control whole exome sequencing study.
Koko, M. and Motelow, J.E. and Stanley, K.E. and Bobbili, D.R. and 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. and Hornig, N.C. and Betz, R.C. and Holterhus, P.M. and Altmüller, J. and Thiele, H. and Fabiano, M. and Schweikert, H.U. and 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. and Harter, P. and Ernst, C. and Burges, A. and Schmidt, S. and Reuss, A. and Borde, J. and De Gregorio, N. and Dietrich, D. and El-Balat, A. and Kayali, M. and Gevensleben, H. and Hilpert, F. and Altmüller, J. and Heimbach, A. and Meier, W. and Schoemig-Markiefka, B. and Thiele, H. and Kimmig, R. and Nürnberg, P. and Kast, K. and Richters, L. and Sehouli, J. and 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. and Bartram, M.P. and Dafinger, C. and Palacio-Escat, N. and Wenzel, A. and Fenton, R.A. and Saez-Rodriguez, J. and Schermer, B. and Benzing, T. and Altmüller, J. and 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. and Roth, O. and Nolte, A.W. and Schüller, A. and Spanke, T. and Flury, J.M. and Utama, I.V. and Altmüller, J. and Wowor, D. and Misof, B. and Herder, F. and 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. and Schreiber, G. and Altmüller, J. and Thiele, H. and Nürnberg, P. and Li, Y. and Kaulfuß, S. and Funke, R. and Wilken, B. and 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. and Chentli, F. and Altmüller, J. and Bögershausen, N. and Nürnberg, P. and Yigit, G. and 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. and Halasz, L. and Medina-Serpas, M.A. and Berger, W.K. and Daniel, B. and Tzerpos, P. and Kiss, M. and Nagy, G. and Fischer, C. and Simandi, Z. and 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. and Rading, K. and Campbell, S.E. and Thiele, H. and Altmüller, J. and 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. and Glass, M. and Wahnschaffe, L. and Otte, M. and Mayer, P. and Franitza, M. and Altmüller, J. and Hallek, M. and Hüttelmaier, S. and 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. and Ast, D.F. and Tumbrink, H.L. and Abedpour, N. and Maas, L. and Schwäbe, A.E. and Spille, I. and Lennartz, S. and Fassunke, J. and Aldea, M. and Besse, B. and Planchard, D. and Nogova, L. and Michels, S. and Kobe, C. and Persigehl, T. and Westphal, T. and Koleczko, S. and Fischer, R. and Weber, J.P. and Altmüller, J. and Thomas, R.K. and Merkelbach-Bruse, S. and Gautschi, O. and Mezquita, L. and Büttner, R. and Wolf, J. and Peifer, M. and Brägelmann, J. and 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. and Goergens, J. and Pochechueva, T. and Kotter, A. and Schwenzer, N. and Sitte, M. and Werner, G. and Altmueller, J. and Thiele, H. and Nürnberg, P. and Isensee, J. and Li, Y. and Müller, C. and Leube, B. and Reinhardt, H.C. and Hucho, T. and Salinas, G. and Helm, M. and Jachimowicz, R.D. and Wieczorek, D. and Kohl, T. and Lehnart, S.E. and 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. and Bartenhagen, C. and Welte, A. and Kahlert, Y. and Hemstedt, N. and Lorenz, W. and Cartolano, M. and Ackermann, S. and Perner, S. and Vogel, W. and Altmüller, J. and Nürnberg, P. and Hertwig, F. and Göhring, G. and Lilienweiss, E. and Stütz, A.M. and Korbel, J.O. and Thomas, R.K. and 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. and Keilwagen, J. and Hoff, K.J. and Steffen, R. and Altmüller, J. and 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. and Peters, S. and Cartolano, M. and Horpaopan, S. and Grimm, C. and Altmüller, J. and Sommer, A.K. and Hillmer, A.M. and Thiele, H. and Odenthal, M. and Möslein, G. and Adam, R. and Sivalingam, S. and Kirfel, J. and Schweiger, M.R. and Peifer, M. and Spier, I. and Aretz, S.
PLoS ONE 16 (11): e0259185. 29 November 2021

Diverse but unique astrocytic phenotypes during embryonic stem cell differentiation, culturing and aging.
Freitag, K. and Eede, P. and Ivanov, A. and Schneeberger, S. and Borodina, T. and Sauer, S. and Beule, D. and Heppner, F.L.
bioRxiv : 2021.08.02.454573v1. 28 November 2021

R-loops trigger the release of cytoplasmic ssDNAs leading to chronic inflammation upon DNA damage.
Chatzidoukaki, O. and Stratigi, K. and Goulielmaki, E. and Niotis, G. and Akalestou-Clocher, A. and Gkirtzimanaki, K. and Zafeiropoulos, A. and Altmüller, J. and 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. and Knoll, R. and Bonaguro, L. and ToVinh, M. and Raabe, J. and Astaburuaga-García, R. and Schulte-Schrepping, J. and Kaiser, K.M. and Rieke, G.J. and Bischoff, J. and Monin, M.B. and Hoffmeister, C. and Schlabe, S. and De Domenico, E. and Reusch, N. and Händler, K. and Reynolds, G. and Blüthgen, N. and Hack, G. and Finnemann, C. and Nischalke, H.D. and Strassburg, C.P. and Stephenson, E. and Su, Y. and Gardner, L. and Yuan, D. and Chen, D. and Goldman, J. and Rosenstiel, P. and Schmidt, S.V. and Latz, E. and Hrusovsky, K. and Ball, A.J. and Johnson, J.M. and Koenig, P.A. and Schmidt, F.I. and Haniffa, M. and Heath, J.R. and Kümmerer, B.M. and Keitel, V. and Jensen, B. and Stubbemann, P. and Kurth, F. and Sander, L.E. and Sawitzki, B. and Aschenbrenner, A.C. and Schultze, J.L. and Nattermann, J.
Immunity 54 (11): 2650-2669. 9 November 2021

A comparison of metabolic labeling and statistical methods to infer genome-wide dynamics of RNA turnover.
Boileau, E. and Altmüller, J. and Naarmann-de Vries, I.S. and Dieterich, C.
Briefings in Bioinformatics 22 (6): bbab219. November 2021

Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies.
Iqbal, M. and Maroofian, R. and Çavdarlı, B. and Riccardi, F. and Field, M. and Banka, S. and Bubshait, D.K. and Li, Y. and Hertecant, J. and Baig, S.M. and Dyment, D. and Efthymiou, S. and Abdullah, U. and Makhdoom, E.U.H. and Ali, Z. and Scherf de Almeida, T and Molinari, F. and Mignon-Ravix, C. and Chabrol, B. and Antony, J. and Ades, L. and Pagnamenta, A.T. and Jackson, A. and Douzgou, S. and Beetz, C. and Karageorgou, V. and Vona, B. and Rad, A. and Baig, J.M. and Sultan, T. and Alvi, J.R. and Maqbool, S. and Rahman, F. and Toosi, M.B. and Ashrafzadeh, F. and Imannezhad, S. and Karimiani, E.G. and Sarwar, Y. and Khan, S. and Jameel, M. and Noegel, A.A. and Budde, B. and Altmüller, J. and Motameny, S. and Höhne, W. and Houlden, H. and Nürnberg, P. and Wollnik, B. and Villard, L. and Alkuraya, F.S. and Osmond, M. and 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. and Jouret, F. and Shen, K. and Nigam, A. and Arjona, F. and Dafinger, C. and Houillier, P. and Jones, D. and Kleinerüschkamp, F. and Oh, J. and Godefroid, N. and Eltan, M. and Güran, T. and Burtey, S. and Parotte, M.C. and König, J. and Braun, A. and Bos, C. and Serra, M.I. and Rehmann, H. and Zwartkruis, F. and Renkema, K. and Klingel, K. and Schulze-Bahr, E. and Schermer, B. and Bergmann, C. and Altmüller, J. and Thiele, H. and Beck, B. and Dahan, K. and Sabatini, D. and Liebau, M. and Vargas-Poussou, R. and Knoers, N. and Konrad, M. and de Baaij, J.
Journal of the American Society of Nephrology 32 (11): 2885-2899. 29 October 2021

RNA polymerase II is required for spatial chromatin reorganization following exit from mitosis.
Zhang, S. and Übelmesser, N. and Josipovic, N. and Forte, G. and Slotman, J.A. and Chiang, M. and Gothe, H.J. and Gusmao, E.G. and Becker, C. and Altmüller, J. and Houtsmuller, A.B. and Roukos, V. and Wendt, K.S. and 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. and Mammadova, L. and Cirillo, M. and Drees, E.E.E. and Mattlener, J. and Dörr, H. and Altmüller, J. and Shi, Z. and Bröckelmann, P.J. and Weiss, J. and Kreissl, S. and Sasse, S. and Ullrich, R.T. and Reinke, S. and Klapper, W. and Gerhard-Hartmann, E. and Rosenwald, A. and Roemer, M.G.M. and Nürnberg, P. and Hagenbeek, A. and Zijlstra, J.M. and Pegtel, D.M. and Engert, A. and Borchmann, P. and 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. and Moawia, A. and Budde, B. and Tariq, M. and Khan, A. and Ali, Z. and Khan, S. and Iqbal, M. and Malik, N.A. and Haque, S.U. and Altmüller, J. and Thiele, H. and Hussain, M.S. and Cirak, S. and 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. and Lozic, B. and Tagoe, J. and Hoffer, M.J.V. and Van der Ven, A. and Thiele, H. and Altmüller, J. and Kubisch, C. and Au, P.Y.B. and Denecke, J. and Bijlsma, E.K. and Lessel, D.
Neurogenetics 22 (4): 263-269. October 2021

Human brain organoids assemble functionally integrated bilateral optic vesicles.
Gabriel, E. and Albanna, W. and Pasquini, Gi. and Ramani, A. and Josipovic, N. and Mariappan, A. and Schinzel, F. and Karch, C.M. and Bao, G. and Gottardo, M. and Suren, A.A. and Hescheler, J. and Nagel-Wolfrum, K. and Persico, V. and Rizzoli, S.O. and Altmüller, J. and Riparbelli, M.G. and Callaini, G. and Goureau, O. and Papantonis, A. and Busskamp, V. and 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. and Suwalski, P. and Holtgrewe, M. and Rakitko, A. and Thibeault, C. and Müller, M. and Patriki, D. and Quedenau, C. and Krüger, U. and Ilinsky, V. and Popov, I. and Balnis, J. and Jaitovich, A. and Helbig, E.T. and Lippert, L.J. and Stubbemann, P. and Real, L.M. and Macías, J. and Pineda, J.A. and Fernandez-Fuertes, M. and Wang, X. and Karadeniz, Z. and Saccomanno, J. and Doehn, J.M. and Hübner, R.H. and Hinzmann, B. and Salvo, M. and Blueher, A. and Siemann, S. and Jurisic, S. and Beer, J.H. and Rutishauser, J. and Wiggli, B. and Schmid, H. and Danninger, K. and Binder, R. and Corman, V.M. and Mühlemann, B. and Arjun Arkal, R. and Fragiadakis, G.K. and Mick, E. and Calfee, C.S. and Erle, D.J. and Hendrickson, C.M. and Kangelaris, K.N. and Krummel, M.F. and Woodruff, P.G. and Langelier, C.R. and Venkataramani, U. and García, F. and Zyla, J. and Drosten, C. and Braun, A. and Jones, T.C. and Suttorp, N. and Witzenrath, M. and Hippenstiel, S. and Zemojtel, T. and Skurk, C. and Wolfgang, P. and Borodina, T. and Ripke, S. and Sander, L.E. and Beule, D. and Landmesser, U. and Guettouche, T. and 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. and Yigit, G. and Martínez Grijalva, C. and Altmüller, J. and Thiele, H. and Nürnberg, P. and Elcioglu, N.H. and Yeter, B. and Hehr, U. and Stein, A. and Della Marina, A. and Köninger, A. and Depienne, C. and Kaiser, F.J. and 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. and Holzer, T. and Nolte, J.L. and Krüger, M. and Wilson, R. and Schlötzer-Schrehardt, U. and Brinckmann, J. and Altmüller, J. and Aszodi, A. and Fleischhauer, L. and Clausen-Schaumann, H. and 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. and Grimm, C. and Herling, C.D. and Lienhard, M. and Königs, A. and Timmermann, B. and Altmüller, J. and Mücke, O. and Reinhardt, H.C. and Plass, C. and Herwig, R. and 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. and Yahia, A. and Elsayed, L.E. and Hamed, A.A. and Mohammed, I.N. and Elseed, M.A. and Hamad, M.H.A. and Babai, A.M. and Siddig, R.A. and Abd Allah, A.S.I. and Mohamed, M. and El-Amin, M. and Esteves, T. and Altmüller, J. and Toliat, M.R. and Thiele, H. and Nürnberg, P. and Salih, M.A. and Ahmed, A.E. and 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. and Hinze, C. and Boltengagen, A. and Braeuning, C. and Kocks, C. and 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. and Rosignoli, S. and Guo, L. and Vardanega, I. and Imani, J. and Altmüller, J. and Milner, S.G. and Balzano, R: and Nagel, K.A. and Pflugfelder, D. and Forestan, C. and Bovina, R. and Koller, R. and Stöcker, T.G. and Mascher, M. and Simmonds, J. and Uauy, C. and Schoof, H. and Tuberosa, R. and Salvi, S. and Hochholdinger, F.
Proceedings of the National Academy of Sciences of the United States of America 118 (35): e2101526118. 31 August 2021

Exon junction complex-associated multi-adapter RNPS1 nucleates splicing regulatory complexes to maintain transcriptome surveillance.
Schlautmann, L.P. and Boehm, V. and Lackmann, J.W. and Altmüller, J. and Dieterich, C. and Gehring, N.H.
bioRxiv : 2021.08.20.457088. 20 August 2021

Long-lived macrophage reprogramming drives spike protein-mediated inflammasome activation in COVID-19.
Theobald, S.J. and Simonis, A. and Georgomanolis, T. and Kreer, C. and Zehner, M. and Eisfeld, H.S. and Albert, M.C. and Chhen, J. and Motameny, S. and Erger, F. and Fischer, J. and Malin, J.J. and Gräb, J. and Winter, S. and Pouikli, A. and David, F. and Böll, B. and Koehler, P. and Vanshylla, K. and Gruell, H. and Suárez, I. and Hallek, M. and Fätkenheuer, G. and Jung, N. and Cornely, O.A. and Lehmann, C. and Tessarz, P. and Altmüller, J. and Nürnberg, P. and Kashkar, H. and Klein, F. and 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. and Hedergott, A. and Preising, M. and Rading, S. and Fricke, J. and Herkenrath, P. and Nürnberg, P. and Altmüller, J. and von Ameln, S. and Lorenz, B. and Neugebauer, A. and Karsak, M. and Kubisch, C.
Human Genetics 140 (8): 1157-1168. August 2021

UPF3A and UPF3B are redundant and modular activators of nonsense-mediated mRNA decay in human cells.
Wallmeroth, D. and Boehm, V. and Lackmann, J.W. and Altmüller, J. and Dieterich, C. and Gehring, N.H.
bioRxiv : 2021.07.07.451444. 13 July 2021

Coregulation of gene expression by White collar 1 and phytochrome in Ustilago maydis.
Brych, A. and Haas, F.B. and Parzefall, K. and Panzer, S. and Schermuly, J. and Altmüller, J. and Engelsdorf, T. and Terpitz, U. and Rensing, S.A. and 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. and Gruber, R. and Brennan, L. and Marriott, A. and Plank, R. and Moosbrugger-Martinz, V. and Blunder, S. and Schossig, A. and Altmüller, J. and Thiele, H. and Nürnberg, P. and Zschocke, J. and 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. and Miroshnikova, Y.A. and Ghatak, S. and Chacón-Martínez, C.A. and Morgner, J. and Li, X. and Atanassov, I. and Altmüller, J. and Birk, D.E. and Koch, M. and Bloch, W. and Bartusel, M. and Niessen, C.M. and 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. and Schommers, P. and Stecher, M. and Dewald, F. and Gieselmann, L. and Gruell, H. and Horn, C. and Vanshylla, K. and Cristanziano, V.D. and Osebold, L. and Roventa, M. and Riaz, T. and Tschernoster, N. and Altmueller, J. and Rose, L. and Salomon, S. and Priesner, V. and Luers, J.C. and Albus, C. and Rosenkranz, S. and Gathof, B. and Fätkenheuer, G. and Hallek, M. and Klein, F. and 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. and Boenigk, S. and Boehm, V. and Gehring, N.H. and 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. and Kueckelmann, S. and Gerbracht, J.V. and Kallabis, S. and Britto-Borges, T. and Altmüller, J. and Krüger, M. and 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. and Schultze, H. and Shastry, K.L. and Manamohan, S. and Mukherjee, S. and Garg, V. and Sarveswara, R. and Händler, K. and Pickkers, P. and Aziz, N.A. and Ktena, S. and Tran, F. and Bitzer, M. and Ossowski, S. and Casadei, N. and Herr, C. and Petersheim, D. and Behrends, U. and Kern, F. and Fehlmann, T. and Schommers, P. and Lehmann, C. and Augustin, M. and Rybniker, J. and Altmüller, J. and Mishra, N. and Bernardes, J.P. and Krämer, B. and Bonaguro, L. and Schulte-Schrepping, J. and De Domenico, E. and Siever, C. and Kraut, M. and Desai, M. and Monnet, B. and Saridaki, M. and Siegel, C.M. and Drews, A. and Nuesch-Germano, M. and Theis, H. and Heyckendorf, J. and Schreiber, S. and Kim-Hellmuth, S. and Nattermann, J. and Skowasch, D. and Kurth, I. and Keller, A. and Bals, R. and Nürnberg, P. and Rieß, O. and Rosenstiel, P. and Netea, M.G. and Theis, F. and Mukherjee, S. and Backes, M. and Aschenbrenner, A.C. and Ulas, T. and Breteler, M.M.B. and Giamarellos-Bourboulis, E.J. and Kox, M. and Becker, M. and Cheran, S. and Woodacre, M.S. and 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. and Josipovic, N. and Nikolic, M. and Kargapolova, Y. and Übelmesser, N. and Varamogianni-Mamatsi, V. and Zirkel, A. and Papadionysiou, I. and Loughran, G. and Keane, J. and Michel, A. and Gusmao, E.G. and Becker, C. and Altmüller, J. and Georgomanolis, T. and Mizi, A. and Papantonis, A.
Molecular Systems Biology 17 (6): e9760. 1 June 2021

The splicing factor XAB2 interacts with ERCC1-XPF and XPG for R-loop processing.
Goulielmaki, E. and Tsekrekou, M. and Batsiotos, N. and Ascensão-Ferreira, M. and Ledaki, E. and Stratigi, K. and Chatzinikolaou, G. and Topalis, P. and Kosteas, T. and Altmüller, J. and Demmers, J.A. and Barbosa-Morais, N.L. and Garinis, G.A.
Nature Communications 12 (1): 3153. 26 May 2021

Overarching control of autophagy and DNA damage response by CHD6 revealed by modeling a rare human pathology.
Kargapolova, Y. and Rehimi, R. and Kayserili, H. and Brühl, J. and Sofiadis, K. and Zirkel, A. and Palikyras, S. and Mizi, A. and Li, Y. and Yigit, G. and Hoischen, A. and Frank, S. and Russ, N. and Trautwein, J. and van Bon, B. and Gilissen, C. and Laugsch, M. and Gusmao, E.G. and Josipovic, N. and Altmüller, J. and Nürnberg, P. and Längst, G. and Kaiser, F.J. and Watrin, E. and Brunner, H. and Rada-Iglesias, A. and Kurian, L. and Wollnik, B. and 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. and Akpulat, U. and Özdemir, Ö. and Yis, U. and Güngör, S. and Talim, B. and Diniz, G. and Baydan, F. and Thiele, H. and Altmüller, J. and 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. and Tschernoster, N. and Erger, F. and Hedergott, A. and Buescher, A.K. and Dafinger, C. and Reusch, B. and Köntges, V.K. and Kohl, S. and Bartram, M.P. and Weber, L.T. and Thiele, H. and Altmueller, J. and Schermer, B. and 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. and Fejjal, N. and Li, Y. and Thiele, H. and Altmüller, J. and Guaoua, S. and Nürnberg, P. and Wollnik, B. and 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. and Fischer, C. and Geisberger, S. and El-Heliebi, A. and Kroneis, T. and Forstner, D. and Desoye, G. and Staff, A.C. and Sugulle, M. and Dechend, R. and Pecks, U. and Kollmann, M. and Stern, C. and Cartwright, J.E. and Whitley, G.S. and Thilaganathan, B. and Wadsack, C. and Huppertz, B. and 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. and Waseem, S.S. and Iqbal, M. and Abdullah, U. and Hussain, G. and Asif, M. and Budde, B. and Höhne, W. and Tinschert, S. and Saadi, S.M. and Yousaf, H. and Ali, Z. and Fatima, A. and Kaygusuz, E. and Khan, A. and Jameel, M. and Khan, S. and Tariq, M. and Anjum, I. and Altmüller, J. and Thiele, H. and Höning, S. and Baig, S.M. and 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. and Fogo, M.S. and Pinto, B.G.G. and Alves, A.Y. and Suzuki, A.M. and Morales, A.G. and Ezquina, S. and Sosa, O.J. and Sutton, G.J. and Sunaga-Franze, D.Y. and Bueno, A.P. and Seabra, G. and Sardinha, L. and Costa, S.S. and Rosenberg, C. and Zachi, E.C. and Sertie, A.L. and Martins-de-Souza, D. and Reis, E.M. and Voineagu, I. and Passos-Bueno, M.R.
Molecular Psychiatry 26 (5): 1589-1605. May 2021

The neuroinflammatory interleukin-12 signaling pathway drives Alzheimer's disease-like pathology by perturbing oligodendrocyte survival and neuronal homeostasis.
Schneeberger, S. and Kim, S.J. and Eede, P. and Boltengagen, A. and Braeuning, C. and Andreadou, M. and Becher, B. and Karaiskos, N. and Kocks, C. and Rajewsky, N. and Heppner, F.L.
bioRxiv : 2021.04.25.441313. 27 April 2021

Genomic variants causing mitochondrial dysfunction are common in hereditary lower motor neuron disease.
Keller, N. and Paketci, C. and Altmueller, J. and Fuhrmann, N. and Wunderlich, G. and Schrank, B. and Unver, O. and Yilmaz, S. and Boostani, R. and Karimiani, E.G. and Motameny, S. and Thiele, H. and Nürnberg, P. and Maroofian, R. and Yis, U. and 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. and Yigit, G. and Altmüller, J. and Nürnberg, P. and Czeschik, J.C. and Wollnik, B. and Bögershausen, N. and Burfeind, P. and Wieczorek, D. and Kaiser, F. and Roos, A. and Kölbel, H. and Schara-Schmidt, U. and Kuechler, A.
American Journal of Medical Genetics A 185 (4): 1216-1221. April 2021

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. and Houwaart, T. and Finzer, P. and Ehlkes, L. and Tyshaieva, A. and Damagnez, M. and Strelow, D. and Duplessis, A. and Nicolai, J. and Wienemann, T. and Tamayo, T. and Kohns Vasconcelos, M. and Hülse, L. and Hoffmann, K. and Lübke, N. and Hauka, S. and Andree, M. and Däumer, M.P. and Thielen, A. and Kolbe-Busch, S. and Göbels, K. and Zotz, R. and Pfeffer, K. and Timm, J. and Dilthey, A.T.
Clinical Infectious Diseases 74 (6): 1039-1046. 15 March 2021

A novel remitting leukodystrophy associated with a variant in FBP2.
Gizak, A. and Diegmann, S. and Dreha-Kulaczewski, S. and Wiśniewski, J. and Duda, P. and Ohlenbusch, A. and Huppke, B. and Henneke, M. and Höhne, W. and Altmüller, J. and Thiele, H. and Nürnberg, P. and Rakus, D. and 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. and Filipów, S. and Ignarski, M. and Smieszek, M. and Chen, H. and Kühne, L. and Butt, L. and Göbel, H. and Hoyer-Allo, K.J.R. and Koehler, F.C. and Altmüller, J. and Brinkkötter, P. and Schermer, B. and Benzing, T. and Kann, M. and Müller, R.U. and Dieterich, C.
Cells 10 (3): 692. March 2021

MTBP phosphorylation controls DNA replication origin firing.
Ferreira, P. and Höfer, V. and Kronshage, N. and Marko, A. and Reusswig, K.U. and Tetik, B. and Dießel, C. and Köhler, K. and Tschernoster, N. and Altmüller, J. and Schulze, N. and 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. and Majmundar, A.J. and Khan, K. and Lim, T.Y. and Shril, S. and Jin, G. and Musgrove, J. and Wang, M. and Ahram, D.F. and Aggarwal, V.S. and Bier, L.E. and Heinzen, E.L. and Onuchic-Whitford, A.C. and Mann, N. and Buerger, F. and Schneider, R. and Deutsch, K. and Kitzler, T.M. and Klämbt, V. and Kolb, A. and Mao, Y. and Moufawad El Achkar, C. and Mitrotti, A. and Martino, J. and Beck, B.B. and Altmüller, J. and Benz, M.R. and Yano, S. and Mikati, M.A. and Gunduz, T. and Cope, H. and Shashi, V. and Trachtman, H. and Bodria, M. and Caridi, G. and Pisani, I. and Fiaccadori, E. and AbuMaziad, A.S. and Martinez-Agosto, J.A. and Yadin, O. and Zuckerman, J. and Kim, A. and John-Kroegel, U. and Tyndall, A.V. and Parboosingh, J.S. and Innes, A.M. and Bierzynska, A. and Koziell, A.B. and Muorah, M. and Saleem, M.A. and Hoefele, J. and Riedhammer, K.M. and Gharavi, A.G. and Jobanputra, V. and Pierce-Hoffman, E. and Seaby, E.G. and O'Donnell-Luria, A. and Rehm, H.L. and Mane, S. and D'Agati, V.D. and Pollak, M.R. and Ghiggeri, G.M. and Lifton, R.P. and Goldstein, D.B. and Davis, E.E. and 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. and Oram, A. and Gruber, R. and Plank, R. and Lingenhel, A. and Gupta, M.K. and Altmüller, J. and Nürnberg, P. and Schmuth, M. and Zschocke, J. and Šarić, T. and 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. and Li, Y. and Yigit, G. and Altmüller, J. and Bader, I. and Bevot, A. and Biskup, S. and Dreha-Kulaczewski, S. and Korenke, C.G. and Kottke, R. and Mayr, J.A. and Preisel, M. and Toelle, S.P. and Wente-Schulz, S. and Wortmann, S.B. and Hahn, H. and Boltshauser, E. and Uhmann, A. and 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. and Mouktaroudi, M. and Krämer, B. and Oestreich, M. and Antonakos, N. and Nuesch-Germano, M. and Gkizeli, K. and Bonaguro, L. and Reusch, N. and Baßler, K. and Saridaki, M. and Knoll, R. and Pecht, T. and Kapellos, T.S. and Doulou, S. and Kröger, C. and Herbert, M. and Holsten, L. and Horne, A. and Gemünd, I.D. and Rovina, N. and Agrawal, S. and Dahm, K. and van Uelft, M. and Drews, A. and Lenkeit, L. and Bruse, N. and Gerretsen, J. and Gierlich, J. and Becker, M. and Händler, K. and Kraut, M. and Theis, H. and Mengiste, S. and Domenico, E. and Schulte-Schrepping, J. and Seep, L. and Raabe, J. and Hoffmeister, C. and ToVinh, M. and Keitel, V. and Rieke, G. and Talevi, V. and Skowasch, D. and Aziz, N.A. and Pickkers, P. and van de Veerdonk, F.L. and Netea, M.G. and Schultze, J.L. and Kox, M. and Breteler, M.M.B. and Nattermann, J. and Koutsoukou, A. and 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. and Whisnant, A.W. and Djakovic, L. and Rutkowski, A.J. and Friedl, M.S. and Kluge, M. and Williamson, J.C. and Sai, S. and Vidal, R.O. and Sauer, S. and Hennig, T. and Grothey, A. and Milić, A. and Prusty, B.K. and Lehner, P.J. and Matheson, N.J. and Erhard, F. and Dölken, L.
Journal of Virology 95 (3): e01399-20. 13 January 2021

An autochthonous mouse model of Myd88- and BCL2-driven diffuse large B-cell lymphoma reveals actionable molecular vulnerabilities.
Flümann, R. and Rehkämper, T. and Nieper, P. and Pfeiffer, P. and Holzem, A. and Klein, S. and Bhatia, S. and Kochanek, M. and Kisis, I. and Pelzer, B.W. and Ahlert, H. and Hauer, J. and da Palma Guerreiro, A. and Ryan, J.A. and Reimann, M. and Riabinska, A. and Wiederstein, J. and Krüger, M. and Deckert, M. and Altmüller, J. and Klatt, A.R. and Frenzel, L.P. and Pasqualucci, L. and Béguelin, W. and Melnick, A.M. and Sander, S. and Montesinos-Rongen, M. and Brunn, A. and Lohneis, P. and Büttner, R. and Kashkar, H. and Borkhardt, A. and Letai, A. and Persigehl, T. and Peifer, M. and Schmitt, C.A. and 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. and Özdemir, Ö. and Kreutzer, M. and Motameny, S. and Thiele, H. and Kribs, A. and Dötsch, J. and Altmüller, J. and 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. and Pich, A. and Tamm, S. and Hedtfeld, S. and Ibrahim, M. and Altmüller, J. and Dalibor, N. and Toliat, M.R. and Janciauskiene, S. and 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. and Schrader, A. and Warner, K. and Jungherz, D. and Crispatzu, G. and von Jan, J. and Chmielewski, M. and Ianevski, A. and Diebner, H.H. and Mayer, P. and Kondo Ados, A. and Wahnschaffe, L. and Braun, T. and Müller, T.A. and Wagle, P. and Bouska, A. and Neumann, T. and Pützer, S. and Varghese, L. and Pflug, N. and Thelen, M. and Makalowski, J. and Riet, N. and Göx, H.J.M and Rappl, G. and Altmüller, J. and Kotrová, M. and Persigehl, T. and Hopfinger, G. and Hansmann, M.L. and Schlößer, H. and Stilgenbauer, S. and Dürig, J. and Mougiakakos, D. and von Bergwelt-Baildon, M. and Roeder, I. and Hartmann, S. and Hallek, M. and Moriggl, R. and Brüggemann, M. and Aittokallio, T. and Iqbal, J. and Newrzela, S. and 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. and Wieland, B. and Ohlenbusch, A. and Yigit, G. and Altmüller, J. and Boltshauser, E. and Dörk, T. and Brockmann, K.
American Journal of Medical Genetics A 182 (12): 2971-2975. December 2020

Single-nuclei RNA-sequencing of plants.
Sunaga-Franze, D.Y. and Muino, J.M. and Braeuning, C. and Xu, X. and Zong, M. and Smaczniak, C. and Yan, W. and Fischer, C. and Vidal, R. and Kliem, M. and Kaufmann, K. and Sauer, S.
bioRxiv : 2020.11.14.382812. 16 November 2020

De novo mutations in FBRSL1 cause a novel recognizable malformation and intellectual disability syndrome.
Ufartes, R. and Berger, H. and Till, K. and Salinas, G. and Sturm, M. and Altmüller, J. and Nürnberg, P. and Thiele, H. and Funke, R. and Apeshiotis, N. and Langen, H. and Wollnik, B. and 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. and Ntini, E. and Lang, B. and Cozzuto, L. and Andersen, J.B. and Marquardt, J.U. and Ponomarenko, J. and 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. and Torrinhas, R.S.M.M. and Fonseca, D.C. and Machado, N.M. and Singer, J. and Singer, P. and Ravacci, G.R. and Belarmino, G. and Ferreira, B.A.M. and Marques, M. and Ishida, R.K. and Guarda, I.F.M.S. and de Moura, E.G.H. and Sakai, P. and Santo, M.A. and Sunaga, D.Y. and Heymsfield, S.B. and Bezerra, D.P.D.S. and 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. and Li, D. and Nair, D. and Alaimo, J.T. and Alders, M. and Altmüller, J. and Barakat, T.S. and Bebin, E.M. and Bertsch, N.L. and Blackburn, P.R. and Blesson, A. and Bouman, A.M. and Brockmann, K. and Brunelle, P. and Burmeister, M. and Cooper, G.M. and Denecke, J. and Dieux-Coëslier, A. and Dubbs, H. and Ferrer, A. and Gal, D. and Bartik, L.E. and Gunderson, L.B. and Hasadsri, L. and Jain, M. and Karimov, C. and Keena, B. and Klee, E.W. and Kloth, K. and Lace, B. and Macchiaiolo, M. and Marcadier, J.L. and Milunsky, J.M. and Napier, M.P. and Ortiz-Gonzalez, X.R. and Pichurin, P.N. and Pinner, J. and Powis, Z. and Prasad, C. and Radio, F.C. and Rasmussen, K.J. and Renaud, D.L. and Rush, E.T. and Saunders, C. and Selcen, D. and Seman, A.R. and Shinde, D.N. and Smith, E.D. and Smol, T. and Snijders Blok, L. and Stoler, J.M. and Tang, S. and Tartaglia, M. and Thompson, M.L. and van de Kamp, J.M. and Wang, J. and Weise, D. and Weiss, K. and Woitschach, R. and Wollnik, B. and Yan, H. and Zackai, E.H. and Zampino, G. and 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. and Brunn, A. and Tuchscherer, A. and Borchmann, P. and Schorb, E. and Kasenda, B. and Altmüller, J. and Illerhaus, G. and Ruge, M.I. and Maarouf, M. and Büttner, R. and Hansmann, M.L. and Hallek, M. and Prinz, M. and 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. and Erger, F. and Skerka, C. and Wenzel, A. and Tschernoster, N. and Ehren, R. and Burgmaier, K. and Riehmer, V. and Licht, C. and Kirschfink, M. and Weber, L.T. and Altmueller, J. and 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. and Alonso, G. and Georgana, I. and El-Jesr, M. and Martín, R. and Shair, K.H.Y. and Fischer, C. and Sauer, S. and 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. and Kleinsorge, M. and Roos, L. and Yigit, G. and Li, Y. and Barbarics, B. and El-Battrawy, I. and Lan, H. and Tiburcy, M. and Hindmarsh, R. and Lenz, C. and Salinas, G. and Diecke, S. and Müller, C. and Adham, I. and Altmüller, J. and Nürnberg, P. and Paul, T. and Zimmermann, W.H. and Hasenfuss, G. and 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. and Kuske, A. and Joosse, S.A. and Yigit, G. and Sflomos, G. and Thaler, S. and Smit, D.J. and Werner, S. and Borgmann, K. and Gärtner, S. and Mossahebi Mohammadi, P. and Battista, L. and Cayrefourcq, L. and Altmüller, J. and Salinas-Riester, G. and Raithatha, K. and Zibat, A. and Goy, Y. and Ott, L. and Bartkowiak, K. and Tan, T.Z. and Zhou, Q. and Speicher, M.R. and Müller, V. and Gorges, T.M. and Jücker, M. and Thiery, J.P. and Brisken, C. and Riethdorf, S. and 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. and Boehm, V. and Britto-Borges, T. and Kallabis, S. and Wiederstein, J.L. and Ciriello, S. and Aschemeier, D.U. and Krüger, M. and Frese, C.K. and Altmüller, J. and 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. and Shang, F. and Wang, X. and Fanti, A.K. and Greco, A. and Busch, K. and Klapproth, K. and Zhang, Q. and Quedenau, C. and Sauer, S. and Feyerabend, T.B. and 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. and Alawi, M. and Krause, L. and Renner, S. and Spohn, M. and Busch, Al. and Kolbe, V. and Altmüller, J. and Löscher, B.S. and Franke, A. and Brockmann, C. and Lieb, W. and Westphal, M. and Schmidt, N.O. and 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. and Plumbom, I. and Alcobendas, M. and Vidal, R. and Sauer, S.
Communications Biology 3 (1): 439. 14 August 2020

MCH neurons regulate permeability of the median eminence barrier.
Jiang, H. and Gallet, S. and Klemm, P. and Scholl, P. and Folz-Donahue, K. and Altmüller, J. and Alber, J. and Heilinger, C. and Kukat, C. and Loyens, A. and Müller-Fielitz, H. and Sundaram, S. and Schwaninger, M. and 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. and Humbatova, A. and Liu, Y. and Qin, W. and Lee, M. and Cesarato, N. and Kortüm, F. and Kumar, S. and Romano, M.T. and Dai, S. and Mo, R. and Sivalingam, S. and Motameny, S. and Wu, Y. and Wang, X. and Niu, X. and Geng, S. and Bornholdt, D. and Kroisel, P.M. and Tadini, G. and Walter, S.D. and Hauck, F. and Girisha, K.M. and Calza, A.M. and Bottani, A. and Altmüller, J. and Buness, A. and Yang, S. and Sun, X. and Ma, L. and Kutsche, K. and Grzeschik, K.H. and 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. and Aly, M.A. and Mohamed, M.R. and Breß, A. and Altmüller, J. and Motameny, S. and Kawalia, A. and Thiele, H. and Konrad, K. and Becker, C. and Toliat, M.R. and Nürnberg, G. and Sayed, E.A.F. and Mohamed, E.S. and 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. and Nörling, D. and Borchert, D. and Leenen, E. and Habbig, S. and Wiesener, M.S. and Bartram, M.P. and Wenzel, A. and Becker, C. and Toliat, M.R. and Nürnberg, P. and 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. and Lafzi, A. and Moutinho, C. and Ziegenhain, C. and McCarthy, D.J. and Álvarez-Varela, A. and Batlle, E. and Sagar, and Grün, D. and Lau, J.K. and Boutet, S.C. and Sanada, C. and Ooi, A. and Jones, R.C. and Kaihara, K. and Brampton, C. and Talaga, Y. and Sasagawa, Y. and Tanaka, K. and Hayashi, T. and Braeuning, C. and Fischer, C. and Sauer, S. and Trefzer, T. and Conrad, C. and Adiconis, X. and Nguyen, L.T. and Regev, A. and Levin, J.Z. and Parekh, S. and Janjic, A. and Wange, L.E. and Bagnoli, J.W. and Enard, W. and Gut, M. and Sandberg, R. and Nikaido, I. and Gut, I. and 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. and Plum, P.S. and Velazquez Camacho, O. and Folz-Donahue, K. and Thelen, M. and Garcia-Marquez, I. and Wölwer, C. and Büsker, S. and Wittig, J. and Franitza, M. and Altmüller, J. and Löser, H. and Schlößer, H. and Büttner, R. and Schröder, W. and Bruns, C.J. and Alakus, H. and Quaas, A. and Chon, S.H. and Hillmer, A.M.
Molecular Oncology 14 (6): 1170-1184. June 2020

Dissecting HSV-1-induced host shut-off at RNA level.
Friedel, C.C. and Whisnant, A.W. and Djakovic, L. and Rutkowski, A.J. and Friedl, M.S. and Kluge, M. and Williamson, J.C. and Sai, S. and Oliveira Vidal, R. and Sauer, S. and Hennig, T. and Prusty, B. and Lehner, P.J. and Matheson, N.J. and 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. and Postmus, D. and Wyler, E. and Fischer, C. and Jansen, J. and Meixenberger, K. and Vitcetz, S.N. and Sohn, M. and Sauer, S. and Bannert, N. and Landthaler, M. and Goffinet, C.
bioRxiv : 2020.05.04.075119. 5 May 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. and Hauke, J. and Loibl, S. and Möbus, V. and Denkert, C. and Fasching, P.A. and Kayali, M. and Ernst, C. and Weber-Lassalle, N. and Hanusch, C. and Tesch, H. and Müller, V. and Altmüller, J. and Thiele, H. and Untch, M. and Lübbe, K. and Nürnberg, P. and Rhiem, K. and Furlanetto, J. and Lederer, B. and Jackisch, C. and Nekljudova, V. and Schmutzler, R.K. and 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. and Cieslak, A. and Bernhart, S.H. and Toprak, U.H. and Wagener, R. and López, C. and Wiehle, L. and Bens, S. and Altmüller, J. and Franitza, M. and Scholz, I. and Jayne, S. and Ahearne, M.J. and Scheffold, A. and Jebaraj, B.M.C. and Schneider, C. and Costa, D. and Braun, T. and Schrader, A. and Campo, E. and Dyer, M.J.S. and Nürnberg, P. and Dürig, J. and Johansson, P. and Böttcher, S. and Schlesner, M. and Herling, M. and Stilgenbauer, S. and 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. and Kubacki, T. and Yeroslaviz, A. and Späth, M.R. and Mörsdorf, J. and Göbel, H. and Bohl, K. and Ignarski, M. and Meharg, C. and Habermann, B. and Altmüller, J. and Beyer, A. and Benzing, T. and Schermer, B. and Burst, V. and Müller, R.U.
Journal of the American Society of Nephrology 31 (4): 716-730. April 2020

Resolving fate and transcriptome of hematopoietic stem cell clones.
Pei, W. and Shang, F. and Wang, X. and Fanti, A.K. and Greco, A. and Busch, K. and Klapproth, K. and Zhang, Q. and Quedenau, C. and Sauer, S. and Feyerabend, T.B. and Höfer, T. and Rodewald, H.R.
bioRxiv : 2020.03.25.008433. 26 March 2020

The genomic and clinical landscape of fetal akinesia.
Pergande, M. and Motameny, S. and Özdemir, Ö. and Kreutzer, M. and Wang, H. and Daimagüler, H.S. and Becker, K. and Karakaya, M. and Ehrhardt, H. and Elcioglu, N. and Ostojic, S. and Chao, C.M. and Kawalia, A. and Duman, Ö. and Koy, A. and Hahn, A. and Reimann, J. and Schoner, K. and Schänzer, A. and Westhoff, J.H. and Schwaibold, E.M.C. and Cossee, M. and Imbert-Bouteille, M. and von Pein, H. and Haliloglu, G. and Topaloglu, H. and Altmüller, J. and Nürnberg, P. and Thiele, H. and 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. and Saida, K. and DeMarzo, D. and Miyake, N. and Fujita, A. and Yang Tan, T. and White, S.M. and Wadley, A. and Toliat, M.R. and Motameny, S. and Franitza, M. and Stutterd, C.A. and Chong, P.F. and Kira, R. and Sengoku, T. and Ogata, K. and Guillen Sacoto, M.J. and Fresen, C. and Beck, B.B. and Nürnberg, P. and Dieterich, C. and Wollnik, B. and Matsumoto, N. and Altmüller, J.
Human Mutation 41 (3): 591-599. March 2020

Self-organizing 3D human trunk neuromuscular organoids.
Faustino Martins, J.M. and Fischer, C. and Urzi, A. and Vidal, R. and Kunz, S. and Ruffault, P.L. and Kabuss, L. and Hube, I. and Gazzerro, E. and Birchmeier, C. and Spuler, S. and 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. and Funke, R. and Wilken, B. and Knaus, A. and Altmüller, J. and Nürnberg, P. and Li, Y. and Wollnik, B. and 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. and Ioannidou, A. and Tsekrekou, M. and Stratigi, K. and Poutakidou, I.K. and Gkirtzimanaki, K. and Aivaliotis, M. and Evangelou, K. and Topalis, P. and Altmüller, J. and Gorgoulis, V.G. and 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. and Markova, M. and Weber, D. and Sucher, S. and Hornemann, S. and Rudovich, N. and Raila, J. and Sunaga-Franze, D. and Sauer, S. and Rohn, S. and 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. and Jurastow, I. and Nandigama, R. and Appenzeller, S. and Li, L. and Vogel, J. and Wiederhold, S. and Althaus, M. and Empting, M. and Altmüller, J. and Hirsch, A.K.H. and Flockerzi, V. and Canning, B.J. and 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. and Herbert, D. and Lange, M. and Beuerlein, K. and 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. and Wagner, J.U.G. and Braeuning, C. and Fischer, C. and Patrick, R. and Tombor, L. and Muhly-Reinholz, M. and John, D. and Kliem, M. and Conrad, T. and Guimarães-Camboa, N. and Harvey, R. and 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. and Frank, D. and Shoemark, A. and Nöthe-Menchen, T. and Cindric, S. and Olbrich, H. and Loges, N.T. and Aprea, I. and Dougherty, G.W. and Pennekamp, P. and Kaiser, T. and Mitchison, H.M. and Hogg, C. and Carr, S.B. and Zariwala, M.A. and Ferkol, T. and Leigh, M.W. and Davis, S.D. and Atkinson, J. and Dutcher, S.K. and Knowles, M.R. and Thiele, H. and Altmüller, J. and Krenz, H. and Wöste, M. and Brentrup, A. and Ahrens, F. and Vogelberg, C. and Morris-Rosendahl, D.J. and Omran, H.
American Journal of Human Genetics 105 (5): 1030-1039. 7 November 2019

Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3.
Florian, R.T. and Kraft, F. and Leitão, E. and Kaya, S. and Klebe, S. and Magnin, E. and van Rootselaar, A.F. and Buratti, J. and Kühnel, T. and Schröder, C. and Giesselmann, S. and Tschernoster, N. and Altmüller, J. and Lamiral, A. and Keren, B. and Nava, C. and Bouteiller, D. and Forlani, S. and Jornea, L. and Kubica, R. and Ye, T. and Plassard, D. and Jost, B. and Meyer, V. and Deleuze, J.F. and Delpu, Y. and Avarello, M.D.M. and Vijfhuizen, L.S. and Rudolf, G. and Hirsch, E. and Kroes, T. and Reif, P.S. and Rosenow, F. and Ganos, C. and Vidailhet, M. and Thivard, L. and Mathieu, A. and Bourgeron, T. and Kurth, I. and Rafehi, H. and Steenpass, L. and Horsthemke, B. and LeGuern, E. and Klein, K.M. and Labauge, P. and Bennett, M.F. and Bahlo, M. and Gecz, J. and Corbett, M.A. and Tijssen, M.A.J and van den Maagdenberg, A.M.J.M. and Depienne, C.
Nature Communications 10 (1): 4919. 29 October 2019

R-spondin-3 induces secretory, antimicrobial Lgr5(+) cells in the stomach.
Sigal, M. and Del Mar Reinés, M. and Müllerke, S. and Fischer, C. and Kapalczynska, M. and Berger, H. and Bakker, E.R.M. and Mollenkopf, H.J. and Rothenberg, M.E. and Wiedenmann, B. and Sauer, S. and Meyer, T.F.
Nature Cell Biology 21 (7): 812-823. July 2019

Signals trigger state-specific transcriptional programs to support diversity and homeostasis in immune cells.
Fischer, C. and Metsger, M. and Bauch, S. and Vidal, R. and Böttcher, M. and Grote, P. and Kliem, M. and Sauer, S.
Science Signaling 12 (581): eaao5820. 14 May 2019

The Wnt-driven Mll1 epigenome regulates salivary gland and head and neck cancer.
Zhu, Q. and Fang, L. and Heuberger, J. and Kranz, A. and Schipper, J. and Scheckenbach, K. and Oliveira Vidal, R. and Sunaga-Franze, D.Y. and Müller, M. and Wulf-Goldenberg, A. and 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. and Alonso-Lobo, J.M. and Montanuy, I. and Fischer, C. and Sauer, S. and Sigal, L. and Sevilla, N. and Alcamí, A.
Nature Communications 9 (1): 5440. 21 December 2018

Transient N-6-methyladenosine transcriptome sequencing reveals a regulatory role of m6A in splicing efficiency.
Louloupi, A. and Ntini, E. and 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. and Fischer, C. and Ambrosi, T.H. and Bothe, M. and Han, C.T. and Muenzner, M. and Mathia, S. and Salminen, M. and Seifert, G. and Thiele, M. and Duda, G.N. and Meijsing, S.H. and Sauer, S. and Schulz, T.J. and Schupp, M.
Molecular and Cellular Biology 38 (12): e00599-17. June 2018

Multiancestry association study identifies new asthma risk loci that colocalize with immune-cell enhancer marks.
Demenais, F. and Margaritte-Jeannin, P. and Barnes, K.C. and Cookson, W.O.C. and Altmüller, J. and Ang, W. and Barr, R.G. and Beaty, T.H. and Becker, A.B. and Beilby, J. and Bisgaard, H. and Bjornsdottir, U.S. and Bleecker, E. and Bonnelykke, K. and Boomsma, D.I. and Bouzigon, E. and Brightling, C.E. and Brossard, M. and Brusselle, G.G. and Burchard, E. and Burkart, K.M. and Bush, A. and Chan-Yeung, M. and Chung, K.F. and Couto Alves, A. and Curtin, J.A. and Custovic, A. and Daley, D. and de Jongste, J.C. and Del-Rio-Navarro, B.E. and Donohue, K.M. and Duijts, L. and Eng, C. and Eriksson, J.G. and Farrall, M. and Fedorova, Y. and Feenstra, B. and Ferreira, M.A. and Freidin, M.B. and Gajdos, Z. and Gauderman, J. and Gehring, U. and Geller, F. and Genuneit, J. and Gharib, S.A and Gilliland, F. and Granell, R. and Graves, P.E. and Gudbjartsson, D.F. and Haahtela, T. and Heckbert, S.R. and Heederik, D. and Heinrich, J. and Helioevaara, M. and Henderson, J. and Himes, B.E. and Hirose, H. and Hirschhorn, J.N. and Hofman, A. and Holt, P. and Hottenga, J. and Hudson, T.J. and Hui, J. and Imboden, M. and Ivanov, V. and Jaddoe, V.W.V. and James, A. and Janson, C. and Jarvelin, M.R. and Jarvis, D. and Jones, G. and Jonsdottir, I. and Jousilahti, P. and Kabesch, M. and Kähönen, M. and Kantor, D.B. and Karunas, A.S. and Khusnutdinova, E. and Koppelman, G.H. and Kozyrskyj, A.L. and Kreiner, E. and Kubo, M. and Kumar, R. and Kumar, A. and Kuokkanen, M. and Lahousse, L. and Laitinen, T. and Laprise, C. and Lathrop, M. and Lau, S. and Lee, Y.A. and Lehtimaeki, T. and Letort, S. and Levin, A.M. and Li, G. and Liang, L. and Loehr, L.R. and London, S.J. and Loth, D.W. and Manichaikul, A. and Marenholz, I. and Martinez, F.J. and Matheson, M.C. and Mathias, R.A. and Matsumoto, K. and Mbarek, H. and McArdle, W.L. and Melbye, M. and Melen, E. and Meyers, D. and Michel, S. and Mohamdi, H. and Musk, A.W. and Myers, R.A. and Nieuwenhuis, M.A.E. and Noguchi, E. and O'Connor, G.T. and Ogorodova, L.M. and Palmer, C.D. and Palotie, A. and Park, J.E. and Pennell, C.E. and Pershagen, G. and Polonikov, A. and Postma, D.S. and Probst-Hensch, N. and Puzyrev, V.P. and Raby, B.A. and Raitakari, O.T. and Ramasamy, A. and Rich, S.S. and Robertson, C.F. and Romieu, I. and Salam, M.T. and Salomaa, V. and Schluenssen, V. and Scott, R. and Selivanova, P.A. and Sigsgaard, T. and Simpson, A. and Siroux, V. and Smith, L.J. and Solodilova, M. and Standl, M. and Stefansson, K. and Strachan, D.P. and Stricker, B.H. and Takahashi, A. and Thompson, P.J. and Thorleifsson, G. and Thorsteinsdottir, U. and Tiesler, C.M.T. and Torgerson, D.G. and Tsunoda, T. and Uitterlinden, A.G. and van der Valk, R.J.P. and Vaysse, A. and Vedantam, S. and von Berg, A. and von Mutius, E. and Vonk, J.M. and Waage, J. and Wareham, N.J. and Weiss, S.T. and White, W.B. and Wickman, M. and Widén, E. and Willemsen, G. and Williams, L.K. and Wouters, I.M. and Yang, J.J. and Zhao, J.H. and Moffatt, M.F. and Ober, C. and Nicolae, D.L.
Nature Genetics 50 (1): 42-53. January 2018


Polylox barcoding reveals haematopoietic stem cell fates realized in vivo.
Pei, W. and Feyerabend, T.B. and Rössler, J. and Wang, X. and Postrach, D. and Busch, K. and Rode, I. and Klapproth, K. and Dietlein, N. and Quedenau, C. and Chen, W. and Sauer, S. and Wolf, S. and Höfer, T. and Rodewald, H.Re.
Nature 548 (7668): 456-460. 24 August 2017

RNA-seq based transcriptome analysis of the type I interferon host response upon vaccinia virus infection of mouse cells.
Hernáez, B. and Alonso, G. and Alonso-Lobo, J.M. and Rastrojo, A. and Fischer, C. and Sauer, S. and Aguado, B. and Alcamí, A.
Journal of Immunology Research 2017 : 5157626. 9 February 2017


Efficient application of de novo RNA assemblers for proteomics informed by transcriptomics.
Luge, T. and Fischer, C. and Sauer, S.
Journal of Proteome Research 15 (10): 3938-3943. 7 October 2016

Exome sequencing and CRISPR/Cas genome editing identify mutations of ZAK as a cause of limb defects in humans and mice.
Spielmann, M. and Kakar, N. and Tayebi, N. and Leettola, C. and Nürnberg, G. and Sowada, N. and Lupiáñez, D.G. and Harabula, I. and Flöttmann, R. and Horn, D. and Chan, W.L. and Wittler, L. and Yilmaz, R. and Altmüller, J. and Thiele, H. and van Bokhoven, H. and Schwartz, C.E. and Nürnberg, P. and Bowie, J.U. and Ahmad, J. and Kubisch, C. and Mundlos, S. and Borck, G.
Genome Research 26 (2): 183-191. February 2016


Mutational dynamics between primary and relapse neuroblastomas.
Schramm, A. and Köster, J. and Assenov, Y. and Althoff, K. and Peifer, M. and Mahlow, E. and Odersky, A. and Beisser, D. and Ernst, C. and Henssen, A.G. and Stephan, H. and Schröder, C. and Heukamp, L. and Engesser, A. and Kahlert, Y. and Theissen, J. and Hero, B. and Roels, F. and Altmüller, J. and Nürnberg, P. and Astrahantseff, K. and Gloeckner, C. and De Preter, K. and Plass, C. and Lee, S. and Lode, H.N. and Henrich, K.O. and Gartlgruber, M. and Speleman, F. and Schmezer, P. and Westermann, F. and Rahmann, S. and Fischer, M. and Eggert, A. and Schulte, J.H.
Nature Genetics 47 (8): 872-877. August 2015

Skeletal dysplasia in a consanguineous clan from the island of Nias/Indonesia is caused by a novel mutation in B3GAT3.
Budde, B.S. and Mizumoto, S. and Kogawa, R. and Becker, C. and Altmüller, J. and Thiele, H. and Rueschendorf, F. and Toliat, M.R. and Kaleschke, G. and Haemmerle, J.M. and Hoehne, W. and Sugahara, K. and 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. and Dejanovic, B. and Lal, D. and Semtner, M. and Merkler, Y. and Reinhold, A. and Pittrich, D.A. and Hotzy, C. and Feucht, M. and Steinboeck, H. and Gruber-Sedlmayr, U. and Ronen, G. and Neophytou, B. and Geldner, J. and Haberlandt, E. and Muhle, H. and Ikram, M.A. and van Duijn, CM. and Uitterlinden, A.G. and Hofman, A. and Altmüller, J. and Kawalia, A. and Toliat, M.R. and Nuernberg, P. and Lerche, H. and Nothnagel, M. and Thiele, H. and Sander, T. and Meier, J.C. and Schwarz, G. and Neubauer, B.A. and Zimprich, F.
Annals of Neurology 77 (6): 972-986. June 2015


Phenotypic and genetic heterogeneity in a genome-wide linkage study of asthma families.
Altmüller, J. and Seidel, C. and Lee, Y.A. and Loesgen, S. and Bulle, D. and Friedrichs, F. and Jellouschek, H. and Kelber, J. and Keller, A. and Schuster, A. and Silbermann, M. and Wahlen, W. and Wolff, P. and Rueschendorf, F. and Schlenvoigt, G. and 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. and Altmueller, J. and Strauch, K. and Rueschendorf, F. and Heinzmann, A. and Moffatt, M.F. and Cookson, W.O.C.M. and Inacio, F. and Nuernberg, P. and 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. and Illig, T. and Loesgen, S. and Rohde, K. and Klopp, N. and Herbon, N. and Gohlke, H. and Altmueller, J. and Wjst, M.
Human Molecular Genetics 11 (6): 613-621. 1 January 2002

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