GNB1

Publications

Hemati P et al. Refining the phenotype associated with GNB1 mutations: clinical data on 18 newly identified patients and review of the literature. In press: accepted for publication by the American Journal of Medical Genetics: Part A as of June 2018.

Szczałuba K et al. Novel GNB1 de novo mutation in a patient with neurodevelopmental disorder and cutaneous mastocytosis: Clinical report and literature review. Eur J Med Genet. 2018 Mar;61(3):157-160. PMID: 29174093

Lohmann K et al. Novel GNB1 mutations disrupt assembly and function of G protein heterotrimers and cause global developmental delay in humans. Hum Mol Genet. 2017;26(6):1078-1086. PMID: 28087732

Brett M et al. Acute lymphoblastic leukemia in a child with a de novo germline gnb1 mutation. Am J Med Genet A. 2017 Feb;173(2):550-552. PMID: 27759915

Steinrucke S et al. Novel GNB1 missense mutation in a patient with generalized dystonia, hypotonia, and intellectual disability. Neurol Genet. 2016 Sep 13;2(5):e106. PMID: 27668284

Petrovski S et al. Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures. Am J Hum Genet, 2016 May 5; 98(5):1001-1010. PMID: 27108799

Yoda A et al. Mutations in G protein β subunits promote transformation and kinase inhibitor resistance. Nat Med. 2015 Jan;21(1):71-5. PMID: 25485910