Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Publication Year: 

Authors & Co-authors:  Cali Elisa E Quirin Tania T Rocca Clarissa C Efthymiou Stephanie S Riva Antonella A Marafi Dana D Zaki Maha S MS Suri Mohnish M Dominguez Roberto R Elbendary Hasnaa M HM

De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects.

Journal: American journal of human genetics

Publication Year: 2020

Authors & Co-authors:  Manole Andreea A Efthymiou Stephanie S O'Connor Emer E Mendes Marisa I MI Jennings Matthew M Maroofian Reza R Davagnanam Indran I Mankad Kshitij K Lopez Maria Rodriguez MR Salpietro Vincenzo V