Associated Papers
Increased yield of genetic diagnoses in inherited heart diseases using expanded genome and RNA-splicing analyses.
Chang Y et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2026
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_
Lessons learned from unsolicited findings in clinical exome sequencing of 16,482 individuals.
van der Schoot V et al.
European Journal of Human Genetics : Ejhg, 2022
34697415 (PubMed )
Supplement: 41431_2021_964_MOESM3_ESM.xlsx › Table_S1
Screening for pulmonary arterial hypertension in adults carrying a BMPR2 mutation.
Montani D et al.
The European Respiratory Journal, 2021
Variant filtering, digenic variants, and other challenges in clinical sequencing: a lesson from fibrillinopathies.
Najafi A et al.
Clinical Genetics, 2020
31506931 (PubMed )
Supplement: CGE-97-235-s002.xlsx › All_variants_annotated
Exome data clouds the pathogenicity of genetic variants in Pulmonary Arterial Hypertension.
Abbasi Y et al.
Molecular Genetics & Genomic Medicine, 2018
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
BMPR2 variant may be related to pulmonary hypertension after lung irradiation.
Harada M et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 0
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