De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features-Reference-Cited by-同舟云学术

De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features

Published:2024-04 Issue:4 Volume:111 Page:778-790
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Mullegama Sureni V.^ORCID,Kiernan Kaitlyn A.,Torti Erin,Pavlovsky Ethan,Tilton Nicholas,Sekula Austin,Gao Hua,Alaimo Joseph T.,Engleman Kendra,Rush Eric T.,Blocker Karli,Dipple Katrina M.,Fettig Veronica M.,Hare Heather,Glass Ian,Grange Dorothy K.,Griffin Michael,Phornphutkul Chanika,Massingham Lauren,Mehta Lakshmi,Miller Danny E.,Thies Jenny,Merritt J Lawrence,Muller Eric,Osmond Matthew,Sawyer Sarah L.,Slaugh Rachel,Hickey Rachel E.,Wolf Barry,Choudhary Sanjeev,Simonović Miljan,Zhang Yueqing,Palculict Timothy Blake,Telegrafi Aida,Carere Deanna Alexis,Wentzensen Ingrid M.,Morrow Michelle M.,Monaghan Kristin G.,Juusola Jane,Yang Jun^ORCID

Funder

National Institutes of Health

National Institute of General Medical Sciences

University of Illinois Chicago

Publisher

Elsevier BV

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Cited by 2 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. SEPHS1 Gene: A new master key for neurodevelopmental disorders;Clinica Chimica Acta;2024-08

2. De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features;The American Journal of Human Genetics;2024-06