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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

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 9 July 2021 (In Press)

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 : bbab219. 7 July 2021 (In Press)

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 3 July 2021 (In Press)

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

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 25 June 2021 (In Press)

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

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 : e14150. 16 June 2021 (In Press)

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

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

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

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


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

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

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

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

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

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

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

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

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

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


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

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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