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Human Mutation|April 28, 2016
Gain-of-Function Mutations in RARB Cause Intellectual Disability with Progressive Motor ImpairmentMyriam Srour, Véronique Caron, Toni Pearson, et al.European Journal of Human Genetics : EJHG|April 29, 2025
GJA8-associated developmental eye disorders: a new multicentre study highlights mutational hotspots and genotype-phenotype correlationsSolomon S Merepa, Linda M Reis, Alejandra Damián, et al.Journal of Medical Genetics|August 22, 2020
De novo missense variants in LMBRD2 are associated with developmental and motor delays, brain structure abnormalities and dysmorphic featuresAlka Malhotra, Alban Ziegler, Li Shu, et al.Journal of Medical Genetics|July 14, 2012
Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic HedgehogBenjamin D Solomon, Kelly A Bear, Adrian Wyllie, et al.American Journal of Medical Genetics. Part A|June 28, 2023
Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanismsManinder Kaur, Justin Blair, Batsal Devkota, et al.Pageof 5