Calame, Daniel G.
Bakhtiari, Somayeh
Logan, Rachel
Coban-Akdemir, Zeynep
Du, Haowei
Mitani, Tadahiro
Fatih, Jawid M.
Hunter, Jill V.
Herman, Isabella
Pehlivan, Davut
Jhangiani, Shalini N.
Person, Richard
Schnur, Rhonda E.
Jin, Sheng Chih
Bilguvar, Kaya
Posey, Jennifer E.
Koh, Sookyong
Firouzabadi, Saghar G.
Alehabib, Elham
Tafakhori, Abbas
Esmkhani, Sahra
Gibbs, Richard A.
Noureldeen, Mahmoud M.
Zaki, Maha S.
Marafi, Dana
Darvish, Hossein
Kruer, Michael C.
Lupski, James R.
Funding for this research was provided by:
National Human Genome Research Institute (U54HG003273)
This article is maintained by: Elsevier
Article Title: Biallelic loss-of-function variants in the splicing regulator NSRP1 cause a severe neurodevelopmental disorder with spastic cerebral palsy and epilepsy
Journal Title: Genetics in Medicine
CrossRef DOI link to publisher maintained version: https://doi.org/10.1038/s41436-021-01291-x
Content Type: article
Copyright: © 2021, The Author(s), under exclusive licence to the American College of Medical Genetics and Genomics