Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly

Daniela A. Braun(Boston Children's Hospital), Jia Rao(Boston Children's Hospital), Géraldine Mollet(Délégation Paris 5), David Schapiro(Boston Children's Hospital), Marie‐Claire Daugeron(Université Paris-Sud), Weizhen Tan(Boston Children's Hospital), Olivier Gribouval(Délégation Paris 5), Olivia Boyer(Délégation Paris 5), Patrick Revy(Délégation Paris 5), Tilman Jobst‐Schwan(Boston Children's Hospital), Johanna Magdalena Schmidt(Boston Children's Hospital), Jennifer A. Lawson(Boston Children's Hospital), Denny Schanze(University Hospital Magdeburg), Shazia Ashraf(Boston Children's Hospital), Jeremy F.P. Ullmann(Boston University), Charlotte A. Hoogstraten(Boston Children's Hospital), Nathalie Boddaert(Délégation Paris 5), Bruno Collinet(Université Paris-Sud), Gaëlle Martin(Délégation Paris 5), Dominique Liger(Université Paris-Sud), Svjetlana Lovric(Boston Children's Hospital), Mónica Furlano(Délégation Paris 5), Ida Chiara Guerrera(Délégation Paris 5), Oraly Sanchez-Ferras(McGill University Health Centre), Jennifer Hu(Massachusetts Institute of Technology), Anne‐Claire Boschat(Institut des Maladies Génétiques Imagine), Sylvia Sanquer(Délégation Paris 5), Björn Menten(Ghent University Hospital), Sarah Vergult(Ghent University Hospital), Nina De Rocker(Ghent University Hospital), Merlin Airik(Boston Children's Hospital), Tobias Hermle(Boston Children's Hospital), Shirlee Shril(Boston Children's Hospital), Eugen Widmeier(Boston Children's Hospital), Heon Yung Gee(Boston Children's Hospital), Won‐Il Choi(Boston Children's Hospital), Carolin E. Sadowski(Boston Children's Hospital), Werner L. Pabst(Boston Children's Hospital), Jillian K. Warejko(Boston Children's Hospital), Ankana Daga(Boston Children's Hospital), Tamara Basta(Université Paris-Sud), Verena Matejas(Friedrich-Alexander-Universität Erlangen-Nürnberg), Karin Scharmann(Max Planck Institute for Molecular Biomedicine), Sandra D. Kienast(Max Planck Institute for Molecular Biomedicine), Babak Behnam(National Institutes of Health), Brendan Beeson(Princess Margaret Hospital for Children), Amber Begtrup, M. Bruce(Princess Margaret Hospital for Children), Gaik-Siew Ch’ng(Hospital Kuala Lumpur), Shuan‐Pei Lin(Mackay Memorial Hospital), Jui-Hsing Chang(Mackay Memorial Hospital), Chao‐Huei Chen(Taichung Veterans General Hospital), Megan T. Cho, Patrick M. Gaffney(Oklahoma Medical Research Foundation), Patrick E. Gipson(University of Michigan), Chyong-Hsin Hsu(Mackay Memorial Hospital), Jameela A. Kari(King Abdulaziz University), Yu-Yuan Ke(Taichung Veterans General Hospital), Cathy Kiraly‐Borri(Princess Margaret Hospital for Children), Wai-ming Lai, Emmanuelle Lemyre(Centre Hospitalier Universitaire Sainte-Justine), Rebecca O. Littlejohn(Baylor College of Medicine), Amira Masri(University of Jordan), Mastaneh Moghtaderi(University of Tehran), Kazuyuki Nakamura(Yamagata University), Fatih Özaltın(Hacettepe University), Marleen Praet(Ghent University Hospital), Chitra Prasad(Western University), Agnieszka Prytula-Ebels(Ghent University Hospital), Elizabeth Roeder(Baylor College of Medicine), Patrick Rump(University Medical Center Groningen), Rhonda E. Schnur, Takashi Shiihara(Yamagata University), Manish D. Sinha(King's College London), Neveen A. Soliman(Cairo University), Kenza Soulami(Centre Hospitalier Universitaire Ibn Rochd), David A. Sweetser(Boston Children's Hospital), Wen‐Hui Tsai(Chi Mei Medical Center), Jeng-Daw Tsai(Taipei Medical University Hospital), Rezan Topaloğlu(Hacettepe University), Udo Vester(Essen University Hospital), David H. Viskochil(University of Utah), Nithiwat Vatanavicharn(Siriraj Hospital), Jessica L. Waxler(Boston Children's Hospital), Klaas J. Wierenga(OU Health), Matthias T. F. Wolf(The University of Texas Southwestern Medical Center), Sik-Nin Wong(Tuen Mun Hospital), Sebastian A. Leidel(University of Münster), Gessica Truglio(Boston University), Peter C. Dedon(Singapore-MIT Alliance for Research and Technology), Annapurna Poduri(Boston University), Shrikant Mane(Yale University), Richard P. Lifton(Yale University), Maxime Bouchard(McGill University Health Centre), Pekka Kannus(University of Toronto), David Chitayat(University of Toronto), Daniella Magen(Rambam Health Care Campus), Bert Callewaert(Ghent University Hospital), Herman van Tilbeurgh(Université Paris-Sud), Martin Zenker(University Hospital Magdeburg), Corinne Antignac(Délégation Paris 5), Friedhelm Hildebrandt(Boston Children's Hospital)
Nature Genetics
August 14, 2017
Cited by 220Open Access
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