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Human Genetics|November 22, 2019
Compound heterozygous mutations in SNAP29 is associated with Pelizaeus-Merzbacher-like disorder (PMLD)Lorida Llaci, Keri Ramsey, Newell Belnap, et al.
Cold Spring Harbor Molecular Case Studies|September 15, 2016
A de novo missense mutation in ZMYND11 is associated with global developmental delay, seizures, and hypotoniaAbby M Moskowitz, Newell Belnap, Ashley L Siniard, et al.
American Journal of Medical Genetics. Part A|August 31, 2018
A novel FBXO28 frameshift mutation in a child with developmental delay, dysmorphic features, and intractable epilepsy: A second gene that may contribute to the 1q41-q42 deletion phenotypeChris Balak, Newell Belnap, Keri Ramsey, et al.
Epigenomics|October 3, 2017
Exploring genome-wide DNA methylation patterns in Aicardi syndromeIgnazio S Piras, Gabrielle Mills, Lorida Llaci, et al.
Neurology. Genetics|August 6, 2020
Congenital myasthenic syndrome caused by a frameshift insertion mutation in <i>GFPT1</i>Szabolcs Szelinger, Jonida Krate, Keri Ramsey, et al.
American Journal of Medical Genetics. Part A|April 14, 2026
35 Individuals With HUWE1-Related Neurodevelopmental Disorder and Suggested Clinical EvaluationsMindy H Li, Deziree L Coleman, Kelsey Hogan, et al.
Cells|July 6, 2023
Genetic and Protein Network Underlying the Convergence of Rett-Syndrome-like (RTT-L) Phenotype in Neurodevelopmental DisordersEric Frankel, Avijit Podder, Megan Sharifi, et al.
Elife|January 17, 2023
Gain-of-function variants in the ion channel gene <i>TRPM3</i> underlie a spectrum of neurodevelopmental disordersLydie Burglen, Evelien Van Hoeymissen, Leila Qebibo, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 4, 2021
Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotypePaolo Zanoni, Katharina Steindl, Deepanwita Sengupta, et al.
American Journal of Human Genetics|August 20, 2019
Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA DysregulationChris Balak, Marianne Benard, Elise Schaefer, et al.
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