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Robert V. MacKenzie Ross
Researcher at United Hospitals
Publications - 22
Citations - 679
Robert V. MacKenzie Ross is an academic researcher from United Hospitals. The author has contributed to research in topics: Pulmonary hypertension & Missing heritability problem. The author has an hindex of 7, co-authored 21 publications receiving 406 citations. Previous affiliations of Robert V. MacKenzie Ross include Royal United Hospital.
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Journal ArticleDOI
Identification of rare sequence variation underlying heritable pulmonary arterial hypertension.
Stefan Gräf,Matthias Haimel,Marta Bleda,Charaka Hadinnapola,Laura Southgate,Laura Southgate,Wei Li,Joshua Hodgson,Bin Liu,Richard M. Salmon,Mark Southwood,Rajiv D. Machado,Jennifer M. Martin,Carmen M. Treacy,Carmen M. Treacy,Katherine Yates,Louise C. Daugherty,Olga Shamardina,Deborah Whitehorn,Simon Holden,Micheala A. Aldred,Harm Jan Bogaard,Colin Church,Gerry Coghlan,Robin Condliffe,Paul A. Corris,Cesare Danesino,Mélanie Eyries,Henning Gall,Stefano Ghio,Hossein Ardeschir Ghofrani,Hossein Ardeschir Ghofrani,J. Simon R. Gibbs,Barbara Girerd,Arjan C. Houweling,Luke S. Howard,Marc Humbert,David G. Kiely,Gabor G. Kovacs,Robert V. MacKenzie Ross,Shahin Moledina,David Montani,Michael Newnham,Andrea Olschewski,Horst Olschewski,Andrew J. Peacock,Joanna Pepke-Zaba,Inga Prokopenko,Christopher J. Rhodes,Laura Scelsi,Werner Seeger,Florent Soubrier,Dan F. Stein,Jay Suntharalingam,Emilia M. Swietlik,Mark Toshner,David A. van Heel,Anton Vonk Noordegraaf,Quinten Waisfisz,John Wharton,Stephen J. Wort,Willem H. Ouwehand,Nicole Soranzo,Nicole Soranzo,Allan Lawrie,Paul D. Upton,Martin R. Wilkins,Richard C. Trembath,Nicholas W. Morrell +68 more
TL;DR: In this paper, the authors performed whole-genome sequencing in 1038 pulmonary arterial hypertension (PAH) index cases and 6385 PAH-negative control subjects to identify the missing heritability.
Journal ArticleDOI
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,Marine Germain,Michael W. Pauciulo,Charaka Hadinnapola,Jurjan Aman,Barbara Girerd,Amit Arora,Jo Knight,Ken B. Hanscombe,Jason H. Karnes,Marika Kaakinen,Henning Gall,Anna Ulrich,Lars Harbaum,Inês Cebola,Jorge Ferrer,Katie A. Lutz,Emilia M. Swietlik,Ferhaan Ahmad,Philippe Amouyel,Stephen L. Archer,Rahul G. Argula,Eric D. Austin,David B. Badesch,Sahil Bakshi,Christopher Barnett,Raymond L. Benza,Nitin Y. Bhatt,Harm Jan Bogaard,Charles D. Burger,Murali M. Chakinala,Colin Church,John G Coghlan,Robin Condliffe,Paul A. Corris,Cesare Danesino,Stéphanie Debette,C. Gregory Elliott,Jean M. Elwing,Mélanie Eyries,Terry Fortin,Andre Franke,Robert P. Frantz,Adaani E. Frost,Joe G.N. Garcia,Stefano Ghio,Hossein Ardeschir Ghofrani,J. Simon R. Gibbs,John B. Harley,Hua He,Nicholas S. Hill,Russel Hirsch,Arjan C. Houweling,Luke Howard,D. Dunbar Ivy,David G. Kiely,James R. Klinger,Gabor G. Kovacs,Tim Lahm,Matthias Laudes,Rajiv D. Machado,Robert V. MacKenzie Ross,Keith Marsolo,Lisa J. Martin,Shahin Moledina,David Montani,Steven D. Nathan,Michael Newnham,Andrea Olschewski,Horst Olschewski,Ronald J. Oudiz,Willem H. Ouwehand,Andrew J. Peacock,Joanna Pepke-Zaba,Zia Rehman,Ivan M. Robbins,Dan M. Roden,Erika B. Rosenzweig,Ghulam Saydain,Laura Scelsi,Robert Schilz,Werner Seeger,Christian M. Shaffer,Robert W. Simms,Marc A. Simon,Olivier Sitbon,Jay Suntharalingam,Haiyang Tang,Alexander Y. Tchourbanov,Thenappan Thenappan,Fernando Torres,Mark Toshner,Carmen M. Treacy,Anton Vonk Noordegraaf,Quinten Waisfisz,Anna K. Walsworth,Robert E. Walter,John Wharton,R. James White,Jeffrey Wilt,Stephen J. Wort,Delphine Yung,Allan Lawrie,Marc Humbert,Florent Soubrier,David-Alexandre Trégouët,Inga Prokopenko,Richard Kittles,Stefan Gräf,William C. Nichols,Richard C. Trembath,Ankit A. Desai,Nicholas W. Morrell,Martin R. Wilkins +117 more
TL;DR: Functional and epigenomic data indicate that the risk variants near SOX17 alter gene regulation via an enhancer active in endothelial cells that determined Pulmonary arterial hypertension risk variants determined haplotype-specific enhancer activity, and CRISPR-mediated inhibition of the enhancer reduced SoX17 expression.
Journal ArticleDOI
Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension.
Charaka Hadinnapola,Marta Bleda,Matthias Haimel,Nicholas Screaton,Andrew J. Swift,Peter Dorfmüller,Stephen D. Preston,Mark Southwood,Jules Hernández-Sánchez,Jennifer M. Martin,Carmen M. Treacy,Katherine Yates,Harm Jan Bogaard,Colin Church,Gerry Coghlan,Robin Condliffe,Paul A. Corris,Simon Gibbs,Barbara Girerd,Simon Holden,Marc Humbert,David G. Kiely,Allan Lawrie,Rajiv D. Machado,Robert V. MacKenzie Ross,Shahin Moledina,David Montani,Michael Newnham,Andrew Peacock,Joanna Pepke-Zaba,Paula Rayner-Matthews,Olga Shamardina,Florent Soubrier,Laura Southgate,Laura Southgate,Jay Suntharalingam,Mark Toshner,Mark Toshner,Richard C. Trembath,Anton Vonk Noordegraaf,Martin R. Wilkins,Stephen J. Wort,John Wharton,Heritable Pah,Stefan Gräf,Nicholas W. Morrell +45 more
TL;DR: Biallelic EIF2AK4 mutations are found in patients classified clinically as having idiopathic and heritable PAH, and can be identified reliably by computed tomography, but a low KCO and a young age at diagnosis suggests the underlying molecular diagnosis.
Journal ArticleDOI
Characterization of GDF2 Mutations and Levels of BMP9 and BMP10 in Pulmonary Arterial Hypertension.
Joshua Hodgson,Emilia M. Swietlik,Richard M. Salmon,Charaka Hadinnapola,Ivana Nikolic,John Wharton,Jingxu Guo,James Liley,Matthias Haimel,Matthias Haimel,Marta Bleda,Laura Southgate,Laura Southgate,Rajiv D. Machado,Jennifer M. Martin,Jennifer M. Martin,Carmen M. Treacy,Katherine Yates,Katherine Yates,Louise C. Daugherty,Louise C. Daugherty,Olga Shamardina,Olga Shamardina,Deborah Whitehorn,Deborah Whitehorn,Simon Holden,Harm Jan Bogaard,Colin Church,Gerry Coghlan,Robin Condliffe,Paul A. Corris,Cesare Danesino,Mélanie Eyries,Henning Gall,Stefano Ghio,Hossein Ardeschir Ghofrani,J. Simon R. Gibbs,Barbara Girerd,Barbara Girerd,Arjan C. Houweling,Luke S. Howard,Marc Humbert,Marc Humbert,David G. Kiely,Gabor Kovacs,Allan Lawrie,Robert V. MacKenzie Ross,Shahin Moledina,David Montani,David Montani,Andrea Olschewski,Horst Olschewski,Willem H. Ouwehand,Willem H. Ouwehand,Andrew J. Peacock,Joanna Pepke-Zaba,Inga Prokopenko,Christopher J. Rhodes,Laura Scelsi,Werner Seeger,Florent Soubrier,Jay Suntharalingam,Mark Toshner,Richard C. Trembath,Anton Vonk Noordegraaf,Stephen J. Wort,Martin R. Wilkins,Paul B. Yu,Wei Li,Stefan Gräf,Stefan Gräf,Paul D. Upton,Nicholas W. Morrell +72 more
TL;DR: It is demonstrated that GDF2 mutations result in BMP9 loss-of-function and are likely causal, which supports therapeutic strategies to enhance BMP 9 or BMP10 signalling in PAH.
Journal ArticleDOI
Loss-of-Function ABCC8 Mutations in Pulmonary Arterial Hypertension.
Michael S. Bohnen,Lijiang Ma,Na Zhu,Hongjian Qi,Conor McClenaghan,Claudia Gonzaga-Jauregui,Frederick E. Dewey,John D. Overton,Jeffrey G. Reid,Alan R. Shuldiner,Aris Baras,Kevin J. Sampson,Marta Bleda,Charaka Hadinnapola,Matthias Haimel,Harm Jan Bogaard,Colin Church,Gerry Coghlan,Paul A. Corris,Mélanie Eyries,J. Simon R. Gibbs,Barbara Girerd,Arjan C. Houweling,Marc Humbert,Christophe Guignabert,David G. Kiely,Allan Lawrie,Robert V. MacKenzie Ross,Jennifer M. Martin,David Montani,Andrew J. Peacock,Joanna Pepke-Zaba,Florent Soubrier,Jay Suntharalingam,Mark Toshner,Mark Toshner,Carmen M. Treacy,Richard C. Trembath,Anton Vonk Noordegraaf,John Wharton,Martin R. Wilkins,Stephen J. Wort,Katherine Yates,Stefan Gräf,Nicholas W. Morrell,Usha Krishnan,Erika B. Rosenzweig,Yufeng Shen,Colin G. Nichols,Robert S. Kass,Wendy K. Chung +50 more
TL;DR: Novel and rare missense variants in ABCC8 are associated with PAH and mutations decreased ATP-sensitive potassium channel function, which was pharmacologically recovered.