Bi-allelic TMEM94 Truncating Variants Are Associated with Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism.
Joshi Stephen,Sateesh Maddirevula,Sheela Nampoothiri,John D. Burke,Matthew Herzog,Anju Shukla,Katharina Steind,Ascia Eskin,Siddaramappa J. Patil,Pascal Joset,Hane Lee,Lisa J. Garrett,Tadafumi Yokoyama,Nicholas Balanda,Steven P. Bodine,Nathanial J. Tolman,Patricia M. Zerfas,Allison Zheng,Georgia Ramantani,Katta M. Girisha,Cecilia Rivas,Pujar Suresh,Abdel Elkahloun,Hessa S. Alsaif,Salma M. Wakil,Laila Mahmoud,Rehab Ali,Michaela Prochazkova,Ashok B. Kulkarni,Tawfeg Ben-Omran,Dilek Colak,H. Douglas Morris,Anita Rauch,Julian A. Martinez-Agosto,Stanley F. Nelson,Fowzan S. Alkuraya,William A. Gahl,May Christine Malicdan The American Journal of Human Genetics（2018）
Key words
neurodevelopmental disorder,facial dysmorphism,congenital heart defects,CRISPR-Cas9,Tmem94 knockout mice
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