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
A Robust and Comprehensive Study of the Molecular and Genetic Basis of Neurodevelopmental Delay in a Sample of 3244 Patients, Evaluated by Exome Analysis in a Latin Population.
Lamilla J et al.
Diagnostics (basel, Switzerland), 2025
39941308 (PubMed )
Supplement: diagnostics-15-00376-s001.zip › diagnostics-3372801-supplementary.xlsx › Hoja1
A case report of a novel GNB1 pathogenic variant and the response to deep brain stimulation.
Rožmarić G et al.
Acta Neurologica Belgica, 2023
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
Haploinsufficiency as a disease mechanism in GNB1-associated neurodevelopmental disorder.
Schultz-Rogers L et al.
Molecular Genetics & Genomic Medicine, 2020
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
31324802 (PubMed )
Supplement: 41467_2019_11180_MOESM6_ESM.xlsx › _D__IntAct-SI_disease_mut
Myoclonus-dystonia caused by GNB1 mutation responsive to deep brain stimulation.
Jones HF et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 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 mutations disrupt assembly and function of G protein heterotrimers and cause global developmental delay in humans.
Lohmann K et al.
Human Molecular Genetics, 2017
Novel GNB1 missense mutation in a patient with generalized dystonia, hypotonia, and intellectual disability.
Steinrücke S et al.
Neurology. Genetics, 2016
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