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

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De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features
American Journal of Human Genetics ( IF 8.1 ) Pub Date : 2024-05-14 , DOI: 10.1016/j.ajhg.2024.05.004
Sureni V. Mullegama , Kaitlyn A. Kiernan , Erin Torti , Ethan Pavlovsky , Nicholas Tilton , Austin Sekula , Hua Gao , Joseph T. Alaimo , Kendra Engleman , Eric T. Rush , Karli Blocker , Katrina M. Dipple , Veronica M. Fettig , Heather Hare , Ian Glass , Dorothy K. Grange , Michael Griffin , Chanika Phornphutkul , Lauren Massingham , Lakshmi Mehta , Danny E. Miller , Jenny Thies , J Lawrence Merritt , Eric Muller , Matthew Osmond , Sarah L. Sawyer , Rachel Slaugh , Rachel E. Hickey , Barry Wolf , Sanjeev Choudhary , Miljan Simonović , Yueqing Zhang , Timothy Blake Palculict , Aida Telegrafi , Deanna Alexis Carere , Ingrid M. Wentzensen , Michelle M. Morrow , Kristin G. Monaghan , Jane Juusola , Jun Yang

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