Novel risk genes and mechanisms implicated by exome sequencing of 2572 individuals with pulmonary arterial hypertension

Complex Compound Inheritance of Lethal Lung Developmental Disorders due to Disruption of the TBX-FGF Pathway

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Kallikrein-related peptidases in lung diseases

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Identification of rare sequence variation underlying heritable pulmonary arterial hypertension

(2018) Stefan Gräf et al.   Nature Communications

Rare variants in SOX17 are associated with pulmonary arterial hypertension with congenital heart disease

(2018) Na Zhu et al.   Genome Medicine

Sex differences in pulmonary arterial hypertension: role of infection and autoimmunity in the pathogenesis of disease

(2018) Kyle A. Batton et al.   Biology of Sex Differences

Genetics and genomics of pulmonary arterial hypertension

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Haemodynamic definitions and updated clinical classification of pulmonary hypertension

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Genetic determinants of risk in pulmonary arterial hypertension: international genome-wide association studies and meta-analysis

(2018) Christopher J Rhodes et al.   Lancet Respiratory Medicine

Racial and ethnic differences in pulmonary arterial hypertension

(2017) Nadine Al-Naamani et al.   Pulmonary Circulation

REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants

(2016) Nilah M. Ioannidis et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The role of genetics in pulmonary arterial hypertension

(2016) Lijiang Ma et al.   JOURNAL OF PATHOLOGY

Genome-wide significance testing of variation from single case exomes

(2016) Amy B Wilfert et al.   NATURE GENETICS

BMPR2 mutations and survival in pulmonary arterial hypertension: an individual participant data meta-analysis

(2016) Jonathan D W Evans et al.   Lancet Respiratory Medicine

Pediatric Pulmonary Hypertension

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Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects

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Excess of rare, inherited truncating mutations in autism

(2015) Niklas Krumm et al.   NATURE GENETICS

De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies

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The Right Ventricle in Pulmonary Arterial Hypertension

(2014) John J. Ryan et al.   CIRCULATION RESEARCH

Genetics of pulmonary hypertension

(2014) D. Hunter Best et al.   CURRENT OPINION IN CARDIOLOGY

A general framework for estimating the relative pathogenicity of human genetic variants

(2014) Martin Kircher et al.   NATURE GENETICS

Searching for missing heritability: Designing rare variant association studies

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EIF2AK4 Mutations in Pulmonary Capillary Hemangiomatosis

(2013) D. Hunter Best et al.   CHEST

TBX4mutations (small patella syndrome) are associated with childhood-onset pulmonary arterial hypertension

(2013) Wilhelmina S Kerstjens-Frederikse et al.   JOURNAL OF MEDICAL GENETICS

Right Heart Adaptation to Pulmonary Arterial Hypertension

(2013) Anton Vonk-Noordegraaf et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

EIF2AK4 mutations cause pulmonary veno-occlusive disease, a recessive form of pulmonary hypertension

(2013) Mélanie Eyries et al.   NATURE GENETICS

A Novel Channelopathy in Pulmonary Arterial Hypertension

(2013) Lijiang Ma et al.   NEW ENGLAND JOURNAL OF MEDICINE

An Evaluation of Long-term Survival From Time of Diagnosis in Pulmonary Arterial Hypertension From the REVEAL Registry

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Missense Mutations of the BMPR1B (ALK6) Gene in Childhood Idiopathic Pulmonary Arterial Hypertension

(2012) Ayako Chida et al.   CIRCULATION JOURNAL

Whole Exome Sequencing to Identify a Novel Gene (Caveolin-1) Associated With Human Pulmonary Arterial Hypertension

(2012) Eric D. Austin et al.   Circulation-Cardiovascular Genetics

Rare-Variant Association Testing for Sequencing Data with the Sequence Kernel Association Test

(2011) Michael C. Wu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Molecular genetic characterization of SMAD signaling molecules in pulmonary arterial hypertension

(2011) Md. Talat Nasim et al.   HUMAN MUTATION

Kallikrein-related Peptidase 12 Hydrolyzes Matricellular Proteins of the CCN Family and Modifies Interactions of CCN1 and CCN5 with Growth Factors

(2011) Audrey Guillon-Munos et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

A framework for variation discovery and genotyping using next-generation DNA sequencing data

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Pooled Association Tests for Rare Variants in Exon-Resequencing Studies

(2010) Alkes L. Price et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Survival in Patients With Idiopathic, Familial, and Anorexigen-Associated Pulmonary Arterial Hypertension in the Modern Management Era

(2010) Marc Humbert et al.   CIRCULATION

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

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Critical Role of Tissue Kallikrein in Vessel Formation and Maturation

(2009) Oliver A. Stone et al.   ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY

Mapping short DNA sequencing reads and calling variants using mapping quality scores

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