Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome
Margot A. Cousin(Mayo Clinic), Blake A. Creighton(University of North Carolina at Chapel Hill), Keith A. Breau(University of North Carolina at Chapel Hill), Rebecca C. Spillmann(Duke Medical Center), Erin Torti, Sruthi Dontu(University of North Carolina at Chapel Hill), Swarnendu Tripathi(Medical College of Wisconsin), Deepa Ajit(University of North Carolina at Chapel Hill), Reginald J. Edwards(University of North Carolina at Chapel Hill), Simone Afriyie(University of North Carolina at Chapel Hill), Julia Bay(University of North Carolina at Chapel Hill), Kathryn M. Harper(University of North Carolina at Chapel Hill), Alvaro A. Beltran(University of North Carolina at Chapel Hill), Lorena J. Munoz(University of North Carolina at Chapel Hill), Liset Falcon Rodriguez(University of North Carolina at Chapel Hill), Michael C. Stankewich(Yale University), Richard Person, Yue Si, Elizabeth A. Normand, Amy Blevins, Alison S. May(Columbia University), Louise Bier(Columbia University), Vimla S. Aggarwal(Columbia University), Grazia M.S. Mancini(Erasmus MC), Marjon A. van Slegtenhorst(Erasmus MC), Kirsten Cremer(University of Bonn), Jessica Becker(University of Bonn), Hartmut Engels(University of Bonn), Stefan Aretz(University of Bonn), Jennifer MacKenzie(McMaster University), Eva H. Brilstra(University Medical Center Utrecht), Koen L.I. van Gassen(University Medical Center Utrecht), Richard H. van Jaarsveld(University Medical Center Utrecht), Renske Oegema(University Medical Center Utrecht), Gretchen Parsons(Spectrum Health), Paul R. Mark(Spectrum Health), Ingo Helbig(Children's Hospital of Philadelphia), Sarah McKeown(Children's Hospital of Philadelphia), Robert F. Stratton(Driscoll Children's Hospital), Benjamin Cogné(Centre National de la Recherche Scientifique), Bertrand Isidor(Centre National de la Recherche Scientifique), Pilar Cacheiro(Queen Mary University of London), Damian Smedley(Queen Mary University of London), Helen V. Firth(Cambridge University Hospitals NHS Foundation Trust), Tatjana Bierhals(Universität Hamburg), Katja Kloth(Universität Hamburg), Deike Weiss(Universität Hamburg), Cecilia Fairley(University of California, San Francisco), Joseph T.C. Shieh(University of California, San Francisco), Amy Kritzer(Boston Children's Hospital), Parul Jayakar(Miami Children's Hospital), Evangeline C. Kurtz‐Nelson(University of Washington), Raphael Bernier(University of Washington), Tianyun Wang(University of Washington), Evan E. Eichler(Howard Hughes Medical Institute), Ingrid M.B.H. van de Laar(Erasmus MC), Allyn McConkie‐Rosell(Duke Medical Center), Marie McDonald(Duke Medical Center), Jennifer L. Kemppainen(Mayo Clinic), Brendan C. Lanpher(Mayo Clinic), Laura Schultz‐Rogers(Mayo Clinic), Lauren Gunderson(Mayo Clinic), Pavel N. Pichurin(Mayo Clinic), Grace Yoon(University of Toronto), Michael Zech(Helmholtz Zentrum München), Robert Jech(Charles University), Juliane Winkelmann(Helmholtz Zentrum München), Undiagnosed Diseases Network(University of North Carolina at Chapel Hill), Adriana S. Beltrán(University of North Carolina at Chapel Hill), Michael T. Zimmermann(University of North Carolina at Chapel Hill), Brenda Temple(University of North Carolina at Chapel Hill), Sheryl S. Moy(University of North Carolina at Chapel Hill), Eric W. Klee(Mayo Clinic), Queenie K-G Tan(University of North Carolina at Chapel Hill), Damaris N. Lorenzo(University of North Carolina at Chapel Hill)
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