Associated Papers
The prevalence of pathogenic variants in the BMPR2 gene in patients with the idiopathic pulmonary arterial hypertension in the Russian population: sequencing data and meta-analysis.
Okhrimenko G et al.
Respiratory Research, 2025
40229839 (PubMed )
Supplement: 12931_2025_3214_MOESM2_ESM.xlsx › Assessment_
Adaptation of ACMG/AMP Guidelines for Clinical Classification of BMPR2 Variants in Pulmonary Arterial Hypertension Resolves Variants of Unclear Pathogenicity in ClinVar.
Eichstaedt CA et al.
Human Mutation, 2025
40661831 (PubMed )
Supplement: 2475635.f2.pdf
Next-generation sequencing of 500 POI patients identified novel responsible monogenic and oligogenic variants.
Luo W et al.
Journal of Ovarian Research, 2023
Development and validation of a mutation-based model to predict immunotherapeutic efficacy in NSCLC.
He P et al.
Frontiers in Oncology, 2023
36910641 (PubMed )
Supplement: DataSheet_1.xlsx › Table_S8
Screening for pulmonary arterial hypertension in adults carrying a BMPR2 mutation.
Montani D et al.
The European Respiratory Journal, 2021
Exome data clouds the pathogenicity of genetic variants in Pulmonary Arterial Hypertension.
Abbasi Y et al.
Molecular Genetics & Genomic Medicine, 2018
Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects.
Machado RD et al.
Human Mutation, 2015
Characteristics of pulmonary arterial hypertension in affected carriers of a mutation located in the cytoplasmic tail of bone morphogenetic protein receptor type 2.
Girerd B et al.
Chest, 2015
Clinical outcomes of pulmonary arterial hypertension in carriers of BMPR2 mutation.
Sztrymf B et al.
American Journal of Respiratory and Critical Care Medicine, 2008
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