Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia-Reference-Cited by-同舟云学术

Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia

Published:2021-12 Issue:12 Volume:108 Page:2368-2384
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Yap Zheng Yie,Efthymiou Stephanie,Seiffert Simone,Vargas Parra Karen,Lee Sukyeong,Nasca Alessia,Maroofian Reza,Schrauwen Isabelle,Pendziwiat Manuela,Jung Sunhee,Bhoj Elizabeth,Striano Pasquale,Mankad Kshitij,Vona Barbara,Cuddapah Sanmati,Wagner Anja,Alvi Javeria Raza,Davoudi-Dehaghani Elham,Fallah Mohammad-Sadegh,Gannavarapu Srinitya,Lamperti Costanza,Legati Andrea,Murtaza Bibi Nazia,Nadeem Muhammad Shahid,Rehman Mujaddad Ur,Saeidi Kolsoum,Salpietro Vincenzo,von Spiczak Sarah,Sandoval Abigail,Zeinali Sirous,Zeviani Massimo,Reich Adi,Jang Cholsoon,Helbig Ingo,Barakat Tahsin Stefan,Ghezzi Daniele,Leal Suzanne M.,Weber Yvonne,Houlden Henry,Yoon Wan Hee^ORCID

Funder

National Institute of Neurological Disorders and Stroke

Rosetrees Trust

Presbyterian Health Foundation

Deutsche Forschungsgemeinschaft

Muscular Dystrophy Association

Bundesministerium für Bildung und Forschung

NCATS

Medical Research Council

National Institute of General Medical Sciences

Ataxia UK

Muscular Dystrophy UK