Associated Papers
Exclusion-based exome sequencing in critically ill adults 18-40 years old has a 24% diagnostic rate and finds racial disparities in access to genetic testing.
Gold JI et al.
American Journal of Human Genetics, 2025
40628270 (PubMed )
Supplement: mmc2.xlsx › Table_S1
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_
Universal Exome Sequencing in Critically Ill Adults: A Diagnostic Yield of 25% and Race-Based Disparities in Access to Genetic Testing.
Gold J et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
38559092 (PubMed )
Supplement: media-1.xlsx › MICUSeq.Data.Filtered.Clean_Spl
Human iPSCs as Model Systems for BMP-Related Rare Diseases.
Sánchez-Duffhues G et al.
Cells, 2023
Molecular and Genetic Profiling for Precision Medicines in Pulmonary Arterial Hypertension.
Fazal S et al.
Cells, 2021
EIF2AK4 Mutations in Patients Diagnosed With Pulmonary Arterial Hypertension.
Best DH et al.
Chest, 2017
Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects.
Machado RD et al.
Human Mutation, 2015
Identification of a common Wnt-associated genetic signature across multiple cell types in pulmonary arterial hypertension.
West JD et al.
American Journal of Physiology. Cell Physiology, 2014
Genetics and genomics of pulmonary arterial hypertension.
Machado RD et al.
Journal of the American College of Cardiology, 2009
Relationship of BMPR2 mutations to vasoreactivity in pulmonary arterial hypertension.
Elliott CG et al.
Circulation, 2006
Mutations of the TGF-beta type II receptor BMPR2 in pulmonary arterial hypertension.
Machado RD et al.
Human Mutation, 2006
From developmental disorder to heritable cancer: it's all in the BMP/TGF-beta family.
Waite KA et al.
Nature Reviews. Genetics, 2003
Functional analysis of bone morphogenetic protein type II receptor mutations underlying primary pulmonary hypertension.
Rudarakanchana N et al.
Human Molecular Genetics, 2002
BMPR2 haploinsufficiency as the inherited molecular mechanism for primary pulmonary hypertension.
Machado RD et al.
American Journal of Human Genetics, 2001
Sporadic primary pulmonary hypertension is associated with germline mutations of the gene encoding BMPR-II, a receptor member of the TGF-beta family.
Thomson JR et al.
Journal of Medical Genetics, 2000
Clinical characteristics and prognosis analysis of idiopathic and hereditary pulmonary hypertension patients with ACVRL1 gene mutations.
Zhang X et al.
Pulmonary Circulation, 0
34966542 (PubMed )
Supplement: sj-pdf-7-pul-10.1177_20458940211044577.pdf
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