MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis
Authors: Christopher C.Y. Mak; Dan Doherty; Angela E Lin; Nancy Vegas; Megan T. Cho; Géraldine Viot; Clémantine Dimartino; James D Weisfeld-Adams; Davor Lessel; Shelagh Joss; Chumei Li; Claudia Gonzaga-Jauregui; Yuri A Zarate; Nadja Ehmke; Denise Horn; Caitlin Troyer; Sarina G Kant; Youngha Lee; Gisele E Ishak; Gordon Leung; Amanda Barone Pritchard; Sandra Yang; Eric G Bend; Francesca Filippini; Chelsea Roadhouse; Nicolas Lebrun; Michele G Mehaffey; Pierre-Marie Martin; Benjamin Apple; Francisca Millan; Oliver Puk; Mariette J V Hoffer; Lindsay B Henderson; Ruth McGowan; Ingrid M Wentzensen; Steven Pei; Farah R Zahir; Mullin Yu; William T Gibson; Ann R Seman; Marcie Steeves; Jill R Murrell; Sabine Luettgen; Elizabeth Francisco; Tim M. Strom; Louise Amlie-Wolf; Angela M Kaindl; William G. Wilson; Sara Halbach; Lina Basel-Salmon; Noa Lev-El; Jonas Denecke; Lisenka E L M Vissers; Kelly Radtke; Jamel Chelly; Elaine Zackai; Jan M Friedman; Michael J. Bamshad; Deborah A. Nickerson; Russell R Reid; Koenraad Devriendt; Jong-Hee Chae; Elliot Stolerman; Carey McDougall; Zöe Powis; Thierry Bienvenu; Tiong Yang Tan; Naama Orenstein; William B Dobyns; Joseph T Shieh; Murim Choi; Darrel Waggoner; Karen W Gripp; Michael J Parker; Joan Stoler; Stanislas Lyonnet; Valérie Cormier-Daire; David Viskochil; Trevor L Hoffman; Jeanne Amiel; Brian Hon‐Yin Chung; Christopher T Gordon
Collaborators: Alfred I. duPont Hospital for Children; ARUP; Berlin Institute of Health; Boston Children's Hospital; Charité - Universitätsmedizin Berlin; Children's Hospital of Philadelphia; Département de Génétique Médicale, CHU de Hautepierre, Strasbourg, France; eviCore healthcare; Exact Sciences; Felsenstein Medical Research Center; GeneDx; Greenwood Genetic Center; Helmholtz Zentrum München; Helmholtz-Zentrum Dresden-Rossendorf (HZDR); Hôpital Trousseau, AP-HP, France; Human Genetics Department, Radboud University Medical Center; Inserm; Institut Imagine; Katholieke Universiteit Leuven; Leiden University Medical Center; Massachusetts General Hospital; McMaster University; PreventionGenetics; Queen Elizabeth University Hospital; Raphael Recanati Genetic Institute; Regeneron Pharmaceuticals Inc; Seattle Children's Research Institute; Sheffield Children's Hospital; Southern California Kaiser Permanente Medical Group; Tel Aviv University; The University of Hong Kong; University Hospital Hamburg-Eppendorf; University of Arkansas for Medical Sciences; University of British Columbia; University of California, San Francisco; University of Colorado School of Medicine; University of Illinois Chicago; University of Melbourne; University of Pennsylvania; University of Utah; University of Virginia Health System; University of Washington