Associated Papers
Clinical Phenotypes of a Pediatric Cohort with GDF2-Related Hereditary Hemorrhagic Telangiectasia.
Oliver O et al.
Journal of Clinical Medicine, 2025
Identification and validation of a novel pathogenic variant in GDF2 (BMP9) responsible for hereditary hemorrhagic telangiectasia and pulmonary arteriovenous malformations.
Balachandar S et al.
American Journal of Medical Genetics. Part A, 2022
Clinical manifestations of patients with GDF2 mutations associated with hereditary hemorrhagic telangiectasia type 5.
Farhan A et al.
American Journal of Medical Genetics. Part A, 2022
Novel GDF2 Gene Mutation Associated with Pulmonary Arteriovenous Malformation.
Topiwala KK et al.
Journal of Stroke and Cerebrovascular Diseases : the Official Journal of National Stroke Association, 2020
Integrated Genomic, Functional, and Prognostic Characterization of Atypical Chronic Myeloid Leukemia.
Fontana D et al.
Hemasphere, 2020
33196013 (PubMed )
Supplement: hs9-4-e497-s007.xlsx › Sheet1
High-depth African genomes inform human migration and health.
Choudhury A et al.
Nature, 2020
33116287 (PubMed )
Supplement: 41586_2020_2859_MOESM3_ESM.xlsx › Supp_T19
Characterization of GDF2 Mutations and Levels of BMP9 and BMP10 in Pulmonary Arterial Hypertension.
Hodgson J et al.
American Journal of Respiratory and Critical Care Medicine, 2020
Workflow for the Implementation of Precision Genomics in Healthcare.
Mehandziska S et al.
Frontiers in Genetics, 2020
32695137 (PubMed )
Supplement: Data_Sheet_2.XLSX › Rare_diseases
Emerging roles of BMP9 and BMP10 in hereditary hemorrhagic telangiectasia.
Tillet E et al.
Frontiers in Genetics, 2014
BMP9 mutations cause a vascular-anomaly syndrome with phenotypic overlap with hereditary hemorrhagic telangiectasia.
Wooderchak-Donahue WL et al.
American Journal of Human Genetics, 2013
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