Identification and validation of a novel pathogenic variant in GDF2 ( BMP9 ) responsible for hereditary hemorrhagic telangiectasia and pulmonary arteriovenous malformations

Homozygous GDF2 nonsense mutations result in a loss of circulating BMP9 and BMP10 and are associated with either PAH or an “HHT‐like” syndrome in children

(2021) Joshua Hodgson et al.   Molecular Genetics & Genomic Medicine

Hereditary hemorrhagic telangiectasia and liver involvement

(2020) Christine Silvain et al.   Clinics and Research in Hepatology and Gastroenterology

Mutational and phenotypic characterisation of hereditary hemorrhagic telangiectasia

(2020) Claire Shovlin et al.   BLOOD

Homozygous GDF2-Related Hereditary Hemorrhagic Telangiectasia in a Chinese Family

(2020) Jinrong Liu et al.   PEDIATRICS

Characterization of GDF2 Mutations and Levels of BMP9 and BMP10 in Pulmonary Arterial Hypertension

(2019) Joshua Hodgson et al.   AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE

Identification of rare sequence variation underlying heritable pulmonary arterial hypertension

(2018) Stefan Gräf et al.   Nature Communications

Germline BMP9 mutation causes idiopathic pulmonary arterial hypertension

(2018) Xiao-Jian Wang et al.   EUROPEAN RESPIRATORY JOURNAL

CADD: predicting the deleteriousness of variants throughout the human genome

(2018) Philipp Rentzsch et al.   NUCLEIC ACIDS RESEARCH

Novel homozygous BMP9 nonsense mutation causes pulmonary arterial hypertension: a case report

(2016) Guoliang Wang et al.   BMC Pulmonary Medicine

A mouse model of hereditary hemorrhagic telangiectasia generated by transmammary-delivered immunoblocking of BMP9 and BMP10

(2016) Santiago Ruiz et al.   Scientific Reports

Prevalence of thoracic aortopathy in patients with juvenile Polyposis Syndrome-Hereditary Hemorrhagic Telangiectasia due toSMAD4

(2015) Brandie Heald et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Better off Blue:BMPR-2Mutation, Arteriovenous Malformation, and Pulmonary Arterial Hypertension

(2014) Elaine Soon et al.   AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE

Pulmonary Arteriovenous Malformations

(2014) Claire L. Shovlin   AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE

BMP9 Mutations Cause a Vascular-Anomaly Syndrome with Phenotypic Overlap with Hereditary Hemorrhagic Telangiectasia

(2013) Whitney L. Wooderchak-Donahue et al.   AMERICAN JOURNAL OF HUMAN GENETICS

BMPR2mutation in a patient with pulmonary arterial hypertension and suspected hereditary hemorrhagic telangiectasia

(2008) Christina M. Rigelsky et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

SMAD proteins control DROSHA-mediated microRNA maturation

(2008) Brandi N. Davis et al.   NATURE