Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia
Zheng Yie Yap(Oklahoma Medical Research Foundation), Wan Hee Yoon(Oklahoma Medical Research Foundation), Abigail Sandoval(Oklahoma Medical Research Foundation), Sunhee Jung(University of California, Irvine), Cholsoon Jang(University of California, Irvine), Adi Reich, Kolsoum Saeidi(Kerman University of Medical Sciences), Sanmati Cuddapah(Children's Hospital of Philadelphia), Simone Seiffert(Hertie Institute for Clinical Brain Research), Karen Vargas Parra(Oklahoma Medical Research Foundation), Stéphanie Efthymiou(Queen Mary University of London), Alessia Nasca(Fondazione IRCCS Istituto Neurologico Carlo Besta), Isabelle Schrauwen, Barbara Vona(Broad Institute), Tahsin Stefan Barakat(Erasmus MC), Massimo Zeviani(University of Cambridge), Costanza Lamperti(West Virginia University), Javeria Raza Alvi, Srinitya Gannavarapu(Western University), Sukyeong Lee(Baylor College of Medicine), Kshitij Mankad(Great Ormond Street Hospital), Andrea Legati(Fondazione IRCCS Istituto Neurologico Carlo Besta), Daniele Ghezzi(University of Milan), Yvonne Weber(Universitätsklinikum Aachen), Henry Houlden(University College London), Reza Maroofian(National Hospital for Neurology and Neurosurgery), Suzanne M. Leal(Indiana University School of Medicine), Sirous Zeinali(Pasteur Institute of Iran), Pasquale Striano(Great Ormond Street Hospital), Elizabeth Bhoj(Children's Hospital of Philadelphia), Mohammad‐Sadegh Fallah(Institute of Human Genetics), Muhammad Shahid Nadeem(Pakistan Council of Scientific & Industrial Research), Ingo Helbig(Schneider Electric (France)), Anja Wagner(Erasmus MC), Vincenzo Salpietro(University College London), Sarah von Spiczak(School of the Art Institute of Chicago), Bibi Nazia Murtaza(Abbottabad University of Science and Technology), Mujaddad Ur Rehman(Abbottabad University of Science and Technology), Manuela Pendziwiat(School of the Art Institute of Chicago)
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