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Molecular Psychiatry|June 30, 2021
Disruption of NEUROD2 causes a neurodevelopmental syndrome with autistic features via cell-autonomous defects in forebrain glutamatergic neuronsKaren Runge, Rémi Mathieu, Stéphane Bugeon, et al.
European Journal of Human Genetics : EJHG|September 15, 2021
Establishing the phenotypic spectrum of ZTTK syndrome by analysis of 52 individuals with variants in SONAlexander J M Dingemans, Kim M G Truijen, Jung-Hyun Kim, et al.
Science Advances|May 13, 2021
Pathogenic variants in SMARCA5, a chromatin remodeler, cause a range of syndromic neurodevelopmental featuresDong Li, Qin Wang, Naihua N Gong, et al.
Nature Genetics|September 19, 2018
De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylationM Felicia Basilicata, Ange-Line Bruel, Giuseppe Semplicio, et al.
American Journal of Human Genetics|March 5, 2019
De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive SyndromeElizabeth E Palmer, Seungbeom Hong, Fatema Al Zahrani, et al.
American Journal of Human Genetics|July 22, 2020
De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial DysmorphismMaria J Guillen Sacoto, Iva A Tchasovnikarova, Erin Torti, et al.
Human Mutation|February 10, 2021
TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical developmentGeeske M van Woerden, Melanie Bos, Charlotte de Konink, et al.
American Journal of Human Genetics|December 25, 2024
Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disabilityPascale Sabeh, Samantha A Dumas, Claudia Maios, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 11, 2020
Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorderTheresa Brunet, Kirsty McWalter, Katharina Mayerhanser, et al.
American Journal of Human Genetics|August 23, 2016
De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability SyndromeJung-Hyun Kim, Deepali N Shinde, Margot R F Reijnders, et al.
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