Associated Papers
Dosage effect of copy number variation in epilepsy and ten regions of the human brain.
De T et al.
Scientific Reports, 2025
41345172 (PubMed )
Supplement: 41598_2025_28338_MOESM2_ESM.xlsx › SNPs
Clinical significance of genetic variation in hypertrophic cardiomyopathy: comparison of computational tools to prioritize missense variants.
Barbosa P et al.
Frontiers in Cardiovascular Medicine, 2022
36061567 (PubMed )
Supplement: Table_1.XLSX › Table_S6
Genotype-phenotype correlation in GNB1-related neurodevelopmental disorder: Potential association of p.Leu95Pro with cleft palate.
Lansdon LA et al.
American Journal of Medical Genetics. Part A, 2021
Case Report: A Novel GNB1 Mutation Causes Global Developmental Delay With Intellectual Disability and Behavioral Disorders.
Da Silva JD et al.
Frontiers in Neurology, 2021
A longitudinal footprint of genetic epilepsies using automated electronic medical record interpretation.
Ganesan S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
32773773 (PubMed )
Supplement: 41436_2020_923_MOESM3_ESM.xls › Table_S3a
Haploinsufficiency as a disease mechanism in GNB1-associated neurodevelopmental disorder.
Schultz-Rogers L et al.
Molecular Genetics & Genomic Medicine, 2020
Exome reports A de novo GNB2 variant associated with global developmental delay, intellectual disability, and dysmorphic features.
Fukuda T et al.
European Journal of Medical Genetics, 2020
Automated Clinical Exome Reanalysis Reveals Novel Diagnoses.
Baker SW et al.
The Journal of Molecular Diagnostics : Jmd, 2019
Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature.
Hemati P et al.
American Journal of Medical Genetics. Part A, 2018
Novel GNB1 de novo mutation in a patient with neurodevelopmental disorder and cutaneous mastocytosis: Clinical report and literature review.
Szczałuba K et al.
European Journal of Medical Genetics, 2018
Comment on "Cutaneous mastocytosis in a child with a de novo GNB1 mutation".
Ramírez CG et al.
Pediatric Dermatology, 0
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