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European Journal of Human Genetics : EJHG|January 24, 2018
Key apoptotic genes APAF1 and CASP9 implicated in recurrent folate-resistant neural tube defectsCatherine J Spellicy, Joy Norris, Renee Bend, et al.Journal of Medical Genetics|January 12, 2020
De novo variants in SUPT16H cause neurodevelopmental disorders associated with corpus callosum abnormalitiesRoya Bina, Dena Matalon, Brieana Fregeau, et al.American Journal of Medical Genetics. Part A|August 4, 2022
Mosaicism of common pathogenic MECP2 variants identified in two males with a clinical diagnosis of Rett syndromeJessica A Cooley Coleman, Timothy Fee, Renee Bend, et al.Molecular Psychiatry|November 30, 2022
Structural deficits in key domains of Shank2 lead to alterations in postsynaptic nanoclusters and to a neurodevelopmental disorder in humansFatemeh Hassani Nia, Daniel Woike, Isabel Bento, et al.European Journal of Human Genetics : EJHG|August 10, 2019
Phenotype and mutation expansion of the PTPN23 associated disorder characterized by neurodevelopmental delay and structural brain abnormalitiesRenee Bend, Lior Cohen, Melissa T Carter, et al.NPJ Genomic Medicine|May 9, 2025
Mosaic X-linked adrenoleukodystrophy in males identified by newborn screening and next-generation sequencingAlexandra C Keefe, Dana M Jensen, Meranda M Pham, et al.American Journal of Human Genetics|January 14, 2020
Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 DeficiencyDavid B Beck, Ana Petracovici, Chongsheng He, et al.European Journal of Medical Genetics|November 22, 2022
Further clinical and molecular characterization of an XLID syndrome associated with BRWD3 variants, a gene implicated in the leukemia-related JAK-STAT pathwayJulian Delanne, Magaly Lecat, Patrick R Blackburn, et al.Brain : a Journal of Neurology|July 22, 2019
Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain sizeDiana Le Duc, Cecilia Giulivi, Susan M Hiatt, et al.Epilepsia|May 27, 2021
CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severityMichelle E Ernst, Evan H Baugh, Amanda Thomas, et al.Pageof 2