Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly-Reference-Cited by-同舟云学术

Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly

Published:2023-03 Issue:3 Volume:110 Page:499-515
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Serey-Gaut Margaux^ORCID,Cortes Marisol,Makrythanasis Periklis,Suri Mohnish,Taylor Alexander M.R.,Sullivan Jennifer A.,Asleh Ayat N.,Mitra Jaba,Dar Mohamad A.,McNamara Amy,Shashi Vandana,Dugan Sarah,Song Xiaofei,Rosenfeld Jill A.,Cabrol Christelle,Iwaszkiewicz Justyna,Zoete Vincent,Pehlivan Davut,Akdemir Zeynep Coban,Roeder Elizabeth R.,Littlejohn Rebecca Okashah,Dibra Harpreet K.,Byrd Philip J.,Stewart Grant S.,Geckinli Bilgen B.,Posey Jennifer,Westman Rachel,Jungbluth Chelsy,Eason Jacqueline,Sachdev Rani,Evans Carey-Anne,Lemire Gabrielle,VanNoy Grace E.,O’Donnell-Luria Anne,Mau-Them Frédéric Tran,Juven Aurélien,Piard Juliette,Nixon Cheng Yee,Zhu Ying,Ha Taekjip,Buckley Michael F.,Thauvin Christel,Essien Umanah George K.,Van Maldergem Lionel,Lupski James R.,Roscioli Tony,Dawson Valina L.,Dawson Ted M.,Antonarakis Stylianos E.^ORCID

Funder

Chrest Foundation

National Institutes of Health

Baylor-Hopkins Center for Mendelian Genomics

National Heart, Lung, and Blood Institute

Cancer Research UK

National Human Genome Research Institute

European Research Council

National Health and Medical Research Council

National Institute of Neurological Disorders and Stroke

National Eye Institute

Publisher