Associated Papers
Clonal hematopoiesis associates with prevalent and incident cardiometabolic disease in a cardiac catheterization cohort.
Regan JA et al.
Plos One, 2026
Dosage effect of copy number variation in epilepsy and ten regions of the human brain.
De T et al.
Scientific Reports, 2025
Ancestry-dependent patterns of somatic mosaicism and clonal hematopoiesis mutations in over 125,000 individuals reveal distinct cancer associations.
Colin-Leitzinger C et al.
Human Genomics, 2025
Clonal hematopoiesis in apparent treatment-resistant hypertension, insights from multiple medical centers and community-based cohorts.
Lv C et al.
Nature Aging, 2025
Accurate affinity models for SH2 domains from peptide binding assays and free-energy regression.
Gagoski D et al.
Protein Science : a Publication of the Protein Society, 2025
Neuromodulation of voltage-gated sodium channels by Gβ1γ2 subunits: Implications for GNB1-linked encephalopathy.
Denomme N et al.
Neurobiology of Disease, 2025
Distinct characteristics of lymphoid and myeloid clonal hematopoiesis in World Trade Center first responders.
Esai Selvan M et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Clonal hematopoiesis is associated with distinct rheumatoid arthritis phenotypes.
Hiitola E et al.
Science Advances, 2025
Ethosuximide: Subunit- and Gβγ-dependent blocker and reporter of allosteric changes in GIRK channels.
Shalomov B et al.
British Journal of Pharmacology, 2025
Peripheral blood somatic mosaicism and clonal hematopoiesis across ancestry backgrounds.
Colin-Leitzinger C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Diagnostic Utility of Trio-Exome Sequencing for Children With Neurodevelopmental Disorders.
Lan X et al.
Jama Network Open, 2025
Comparative analysis of the Mexico City Prospective Study and the UK Biobank identifies ancestry-specific effects on clonal hematopoiesis.
Wen S et al.
Nature Genetics, 2025
Clonal Hematopoiesis Associates with Prevalent and Incident Cardiometabolic Disease in High-Risk Individuals.
Regan JA et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Accurate sequence-to-affinity models for SH2 domains from multi-round peptide binding assays coupled with free-energy regression.
Gagoski D et al.
Biorxiv : the Preprint Server for Biology, 2025
Loss of expression and function of Gβγ by GNB1 encephalopathy-associated L95P mutation of the Gβ1 subunit.
Reddy HP et al.
Frontiers in Pharmacology, 2025
Colchicine prevents accelerated atherosclerosis in TET2-mutant clonal haematopoiesis.
Zuriaga MA et al.
European Heart Journal, 2024
Unidirectional association of clonal hematopoiesis with atherosclerosis development.
Díez-Díez M et al.
Nature Medicine, 2024
Association Between Clonal Hematopoiesis and Left Ventricular Reverse Remodeling in Nonischemic Dilated Cardiomyopathy.
Inoue S et al.
Jacc. Basic to Translational Science, 2024
Rare variant associations with plasma protein levels in the UK Biobank.
Dhindsa RS et al.
Nature, 2023
Genetic modification of inflammation- and clonal hematopoiesis-associated cardiovascular risk.
Yu Z et al.
The Journal of Clinical Investigation, 2023
Clonal hematopoiesis is associated with protection from Alzheimer's disease.
Bouzid H et al.
Nature Medicine, 2023
Comprehensive genetic analyses of childhood acute leukemia in Iraq using next-generation sequencing.
Al-Kzayer LFY et al.
Translational Pediatrics, 2023
Epilepsy in a mouse model of GNB1 encephalopathy arises from altered potassium (GIRK) channel signaling and is alleviated by a GIRK inhibitor.
Colombo S et al.
Frontiers in Cellular Neuroscience, 2023
Cancer-driving mutations are enriched in genic regions intolerant to germline variation.
Vitsios D et al.
Science Advances, 2022
Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay.
Seo GH et al.
Molecular Medicine (cambridge, Mass.), 2022
Cutaneous mastocytosis in a child with a de novo GNB1 mutation.
Lattanzio K et al.
Pediatric Dermatology, 2022
Phenotypic and Genetic Complexity in Pediatric Movement Disorders.
Kim MJ et al.
Frontiers in Genetics, 2022
Genomes for Kids: The Scope of Pathogenic Mutations in Pediatric Cancer Revealed by Comprehensive DNA and RNA Sequencing.
Newman S et al.
Cancer Discovery, 2021
Encephalopathy-causing mutations in Gβ1 (GNB1) alter regulation of neuronal GIRK channels.
Reddy HP et al.
Iscience, 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
Diagnostic yield and clinical utility of whole exome sequencing using an automated variant prioritization system, EVIDENCE.
Seo GH et al.
Clinical Genetics, 2020
Inherited causes of clonal haematopoiesis in 97,691 whole genomes.
Bick AG et al.
Nature, 2020
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
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
Targeted sequencing informs the evaluation of normal karyotype cytopenic patients for low-grade myelodysplastic syndrome.
Duncavage EJ et al.
Leukemia, 2016
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