Publications by authors named "Rajiv D Machado"

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Adaptation of ACMG/AMP Guidelines for Clinical Classification of Variants in Pulmonary Arterial Hypertension Resolves Variants of Unclear Pathogenicity in ClinVar.
Christina A Eichstaedt, Gabriel Maldonado-Velez, Rajiv D Machado, Stefan Gräf, Dennis Dooijes

Hum Mutat· July 2025

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Adaptation of ACMG/AMP guidelines for clinical classification of variants in Pulmonary Arterial Hypertension resolves variants of unclear pathogenicity in ClinVar.
Christina A Eichstaedt, Gabriel Maldonado-Velez, Rajiv D Machado, Srimmitha Balachandar, Florence Coulet

medRxiv· November 2024

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Defining the clinical validity of genes reported to cause pulmonary arterial hypertension.
Carrie L Welch, Micheala A Aldred, Srimmitha Balachandar, Dennis Dooijes, Christina A Eichstaedt, Rajiv D Machado

Genet Med· November 2023

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Biallelic variants of cause dose-dependent childhood-onset pulmonary arterial hypertension characterised by extreme morbidity and mortality.
Rajiv D Machado, Carrie L Welch, Matthias Haimel, Marta Bleda, Elizabeth Colglazier

J Med Genet· September 2022

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Pulmonary Arterial Hypertension: A Deeper Evaluation of Genetic Risk in the -Omics Era.
Rajiv D Machado, Laura Southgate

Genes (Basel)· November 2021

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Bayesian Inference Associates Rare Variants with Specific Phenotypes in Pulmonary Arterial Hypertension.
Emilia M Swietlik, Daniel Greene, Na Zhu, Karyn Megy, Marcella Cogliano, Rajiv D Machado

Circ Genom Precis Med· December 2020

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Whole Exome Sequence Analysis Provides Novel Insights into the Genetic Framework of Childhood-Onset Pulmonary Arterial Hypertension.
Simone M Gelinas, Clare E Benson, Mohammed A Khan, Rolf M F Berger, Richard C Trembath, Rajiv D Machado

Genes (Basel)· November 2020

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Characterization of Mutations and Levels of BMP9 and BMP10 in Pulmonary Arterial Hypertension.
Joshua Hodgson, Emilia M Swietlik, Richard M Salmon, Charaka Hadinnapola, Ivana Nikolic, Rajiv D Machado

Am J Respir Crit Care Med· March 2020

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Molecular genetic framework underlying pulmonary arterial hypertension.
Laura Southgate, Rajiv D Machado, Stefan Gräf, Nicholas W Morrell

Nat Rev Cardiol· February 2020

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Genetic determinants of risk in pulmonary arterial hypertension: international genome-wide association studies and meta-analysis.
Christopher J Rhodes, Ken Batai, Marta Bleda, Matthias Haimel, Laura Southgate, Rajiv D Machado

Lancet Respir Med· March 2019

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Identification of rare sequence variation underlying heritable pulmonary arterial hypertension.
Stefan Gräf, Matthias Haimel, Marta Bleda, Charaka Hadinnapola, Laura Southgate, Rajiv D Machado

Nat Commun· April 2018

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Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects.
Rajiv D Machado, Laura Southgate, Christina A Eichstaedt, Micheala A Aldred, Eric D Austin

Hum Mutat· December 2015

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Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac Anomalies.
Laura Southgate, Maja Sukalo, Anastasios S V Karountzos, Edward J Taylor, Claire S Collinson, Rajiv D Machado

Circ Cardiovasc Genet· August 2015

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Selective enhancement of endothelial BMPR-II with BMP9 reverses pulmonary arterial hypertension.
Lu Long, Mark L Ormiston, Xudong Yang, Mark Southwood, Stefan Gräf, Rajiv D Machado

Nat Med· July 2015

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The molecular genetics and cellular mechanisms underlying pulmonary arterial hypertension.
Rajiv D Machado

Scientifica (Cairo)· November 2013

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Assessment of a pulmonary origin for blood outgrowth endothelial cells by examination of identical twins harboring a BMPR2 mutation.
Mark L Ormiston, Laura Southgate, Carmen Treacy, Joanna Pepke-Zaba, Richard C Trembath, Rajiv D Machado

Am J Respir Crit Care Med· July 2013

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Molecular genetic characterization of SMAD signaling molecules in pulmonary arterial hypertension.
Md Talat Nasim, Takeshi Ogo, Mohammad Ahmed, Rebecca Randall, Hasnin M Chowdhury, Rajiv D Machado

Hum Mutat· December 2011

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Gain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomalies.
Laura Southgate, Rajiv D Machado, Katie M Snape, Martin Primeau, Dimitra Dafou

Am J Hum Genet· May 2011

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Dymeclin, the gene underlying Dyggve-Melchior-Clausen syndrome, encodes a protein integral to extracellular matrix and golgi organization and is associated with protein secretion pathways critical in bone development.
Celine Denais, Carolyn L Dent, Laura Southgate, Jacqueline Hoyle, Dimitra Dafou, Rajiv D Machado

Hum Mutat· February 2011

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Elevated levels of inflammatory cytokines predict survival in idiopathic and familial pulmonary arterial hypertension.
Elaine Soon, Alan M Holmes, Carmen M Treacy, Natalie J Doughty, Laura Southgate, Rajiv D Machado

Circulation· August 2010

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Genetics and genomics of pulmonary arterial hypertension.
Rajiv D Machado, Oliver Eickelberg, C Gregory Elliott, Mark W Geraci, Masayuki Hanaoka

J Am Coll Cardiol· June 2009

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Stress Doppler echocardiography in relatives of patients with idiopathic and familial pulmonary arterial hypertension: results of a multicenter European analysis of pulmonary artery pressure response to exercise and hypoxia.
Ekkehard Grünig, Sylvia Weissmann, Nicola Ehlken, Anna Fijalkowska, Christine Fischer, Rajiv D Machado

Circulation· April 2009

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Characterization of the BMPR2 5'-untranslated region and a novel mutation in pulmonary hypertension.
Micheala A Aldred, Rajiv D Machado, Victoria James, Nicholas W Morrell, Richard C Trembath

Am J Respir Crit Care Med· October 2007

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Demographic features, BMPR2 status and outcomes in distal chronic thromboembolic pulmonary hypertension.
Jay Suntharalingam, Rajiv D Machado, Linda D Sharples, Mark R Toshner, Karen K Sheares

Thorax· July 2007

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Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus.
Patrick Tarpey, Shery Thomas, Nagini Sarvananthan, Uma Mallya, Steven Lisgo, Rajiv D Machado

Nat Genet· November 2006

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