Haploinsufficiency as a disease mechanism in GNB1 -associated neurodevelopmental disorder

Predicting Splicing from Primary Sequence with Deep Learning

(2019) Kishore Jaganathan et al.   CELL

Myoclonus‐dystonia caused by GNB1 mutation responsive to deep brain stimulation

(2019) Hannah F. Jones et al.   MOVEMENT DISORDERS

Phenotype–genotype correlations in patients with GNB1 gene variants, including the first three reported Japanese patients to exhibit spastic diplegia, dyskinetic quadriplegia, and infantile spasms

(2019) Wakaba Endo et al.   BRAIN & DEVELOPMENT

A tailored approach to fusion transcript identification increases diagnosis of rare inherited disease

(2019) Gavin R. Oliver et al.   PLoS One

Next-generation sequencing improves treatment efficacy and reduces hospitalization in children with drug-resistant epilepsy

(2018) Jing Peng et al.   CNS Neuroscience & Therapeutics

Novel GNB1 de novo mutation in a patient with neurodevelopmental disorder and cutaneous mastocytosis: Clinical report and literature review

(2018) Krzysztof Szczałuba et al.   European Journal of Medical Genetics

Targeting G protein-coupled receptor signaling at the G protein level with a selective nanobody inhibitor

(2018) Sahil Gulati et al.   Nature Communications

Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature

(2018) Parisa Hemati et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures

(2016) Slavé Petrovski et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Acute lymphoblastic leukemia in a child with a de novo germline gnb1 mutation

(2016) Maggie Brett et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Distinct profiles of functional discrimination among G proteins determine the actions of G protein–coupled receptors

(2015) Ikuo Masuho et al.   Science Signaling

Distinct profiles of functional discrimination among G proteins determine the actions of G protein–coupled receptors

(2015) Ikuo Masuho et al.   Science Signaling

The Database of Genomic Variants: a curated collection of structural variation in the human genome

(2013) Jeffrey R. MacDonald et al.   NUCLEIC ACIDS RESEARCH

Neural tube defects and impaired neural progenitor cell proliferation in Gβ1-deficient mice

(2010) Hiroaki Okae et al.   DEVELOPMENTAL DYNAMICS

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

(2009) Helen V. Firth et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The c-terminus of GRK3 indicates rapid dissociation of G protein heterotrimers

(2009) Bettye Hollins et al.   CELLULAR SIGNALLING

Heterotrimeric G protein activation by G-protein-coupled receptors

(2007) William M. Oldham et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY