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

Mullegama, S. V., Kiernan, K. A., Torti, E., Pavlovsky, E., Tilton, N., Sekula, A., Gao, H., Alaimo, J. T., Engleman, K., Rush, E. T., Blocker, K., Dipple, K. M., Fettig, V. M., Hare, H., Glass, I., Grange, D. K., Griffin, M., Phornphutkul, C., Massingham, L., … Yang, J. (2024). 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, 111(4), 778–790. https://doi.org/10.1016/j.ajhg.2024.02.016
Authors:
Sureni V. Mullegama
Erin Torti
Hua Gao
Timothy Blake Palculict
Aida Telegrafi
Deanna Alexis Carere
Ingrid M. Wentzensen
Michelle M. Morrow
Kristin G. Monaghan
Jane Juusola
Ethan Pavlovsky
Nicholas Tilton
Austin Sekula
Michael Griffin
Sanjeev Choudhary
Kaitlyn A. Kiernan
Miljan Simonovic
Joseph T. Alaimo
Kendra Engleman
Eric T. Rush
Karli Blocker
Eric Muller II
Katrina M. Dipple
Ian Glass
Danny E. Miller
J. Lawrence Merritt II
Chanika Phornphutkul
Veronica M. Fettig
Heather Hare
Dorothy K. Grange
Rachel Slaugh
Lauren Massingham
Lakshmi Mehta
Jenny Thies
Matthew Osmond
Sarah L. Sawyer
Undiagnosed Dis Network
Rachel E. Hickey
Barry Wolf
Yueqing Zhang
Jun Yang
Affiliated Authors:
Lakshmi Mehta
elink
Publication Type:
Article
Unique ID:
10.1016/j.ajhg.2024.02.016
PMID:
38531365
DOI:
10.1016/j.ajhg.2024.02.016
Journal:
American Journal of Human Genetics
Publication Date:
Data Source:
Web of Science
Source Link:
View Web of Science Record

Record Created: