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
NUP214 Rearrangements in Leukemia Patients: A Case Series From a Single Institution.
Choi YJ et al.
Annals of Laboratory Medicine, 2024
Second patient with GNB2-related neurodevelopmental disease: Further evidence for a gene-disease association.
Lansdon LA et al.
European Journal of Medical Genetics, 2021
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
Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes.
Guo H et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 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
The driver landscape of sporadic chordoma.
Tarpey PS et al.
Nature Communications, 2017
29026114 (PubMed )
Supplement: 41467_2017_1026_MOESM5_ESM.xlsx › ST2
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
Acute lymphoblastic leukemia in a child with a de novo germline gnb1 mutation.
Brett M et al.
American Journal of Medical Genetics. Part A, 2017
Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.
Petrovski S et al.
American Journal of Human Genetics, 2016
Select a paper to view details