Rajiv D. Machado

St George's University Of London
London, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 21 publications

Adaptation of ACMG/AMP Guidelines for Clinical Classification of BMPR2 Variants in Pulmonary Arterial Hypertension Resolves Variants of Unclear Pathogenicity in ClinVar.

Adaptation of ACMG/AMP Guidelines for Clinical Classification of BMPR2 Variants in Pulmonary Arterial Hypertension Resolves Variants of Unclear Pathogenicity in ClinVar.

Journal: Human mutation

Published: January 06, 2025

Adaptation of ACMG/AMP guidelines for clinical classification of BMPR2 variants in Pulmonary Arterial Hypertension resolves variants of unclear pathogenicity in ClinVar.

Adaptation of ACMG/AMP guidelines for clinical classification of BMPR2 variants in Pulmonary Arterial Hypertension resolves variants of unclear pathogenicity in ClinVar.

Journal: medRxiv : the preprint server for health sciences

Published: December 09, 2024

Defining the clinical validity of genes reported to cause pulmonary arterial hypertension.

Defining the clinical validity of genes reported to cause pulmonary arterial hypertension.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: January 28, 2023

Pulmonary Arterial Hypertension: A Deeper Evaluation of Genetic Risk in the -Omics Era.

Pulmonary Arterial Hypertension: A Deeper Evaluation of Genetic Risk in the -Omics Era.

Journal: Genes

Published: October 19, 2021

Biallelic variants of ATP13A3 cause dose-dependent childhood-onset pulmonary arterial hypertension characterised by extreme morbidity and mortality.

Biallelic variants of ATP13A3 cause dose-dependent childhood-onset pulmonary arterial hypertension characterised by extreme morbidity and mortality.

Journal: Journal of medical genetics

Published: March 21, 2021

Bayesian Inference Associates Rare KDR Variants with Specific Phenotypes in Pulmonary Arterial Hypertension.

Bayesian Inference Associates Rare KDR Variants with Specific Phenotypes in Pulmonary Arterial Hypertension.

Journal: Circulation. Genomic and precision medicine

Published: December 15, 2020

Whole Exome Sequence Analysis Provides Novel Insights into the Genetic Framework of Childhood-Onset Pulmonary Arterial Hypertension.

Whole Exome Sequence Analysis Provides Novel Insights into the Genetic Framework of Childhood-Onset Pulmonary Arterial Hypertension.

Journal: Genes

Published: October 22, 2020

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

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

Journal: American journal of respiratory and critical care medicine

Published: October 30, 2019

Molecular genetic framework underlying pulmonary arterial hypertension.

Molecular genetic framework underlying pulmonary arterial hypertension.

Journal: Nature reviews. Cardiology

Published: July 12, 2019

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

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

Journal: The Lancet. Respiratory medicine

Published: July 18, 2018

Identification of rare sequence variation underlying heritable pulmonary arterial hypertension.

Identification of rare sequence variation underlying heritable pulmonary arterial hypertension.

Journal: Nature communications

Published: September 05, 2017

Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension.

Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension.

Journal: Circulation

Published: March 14, 2017

Showing 1-12 of 21

Last Updated: 09/26/2026