Associated Papers
The Spectrum of Movement Disorders in Children with Genetic Developmental and Epileptic Encephalopathies: A Cross-Sectional Observational Study.
Kansal B et al.
Movement Disorders Clinical Practice, 2026
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 characterization of familial 1p36.3 microduplication.
Jiao J et al.
Neurogenetics, 2023
Cancer-driving mutations are enriched in genic regions intolerant to germline variation.
Vitsios D et al.
Science Advances, 2022
Genome-wide analyses of 200,453 individuals yield new insights into the causes and consequences of clonal hematopoiesis.
Kar SP et al.
Nature Genetics, 2022
35835912 (PubMed )
Supplement: 41588_2022_1121_MOESM3_ESM.xlsx › ST4
Integrated Genomic Analysis Identifies UBTF Tandem Duplications as a Recurrent Lesion in Pediatric Acute Myeloid Leukemia.
Umeda M et al.
Blood Cancer Discovery, 2022
35176137 (PubMed )
Supplement: bcd-21-0160_supplemental_tables_supp1-32.xlsx › Table_S12_SNV_indel
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
NOTCH1 pathway activating mutations and clonal evolution in pediatric T-cell acute lymphoblastic leukemia.
Kimura S et al.
Cancer Science, 2019
30387229 (PubMed )
Supplement: CAS-110-784-s012.xlsx › Sup3_Mutation
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
Pan-cancer genome and transcriptome analyses of 1,699 paediatric leukaemias and solid tumours.
Ma X et al.
Nature, 2018
29489755 (PubMed )
Supplement: NIHMS939556-supplement-Table_2-7.xlsx › TableS5
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
Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.
Petrovski S et al.
American Journal of Human Genetics, 2016
Mutations in G protein β subunits promote transformation and kinase inhibitor resistance.
Yoda A et al.
Nature Medicine, 2015
25485910 (PubMed )
Supplement: NIHMS636733-supplement-1.xlsx › Supplementary_Table_1
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