Rare variant analysis of 4241 pulmonary arterial hypertension cases from an international consortium implicates FBLN2, PDGFD, and rare de novo variants in PAH

Zhu, N., Swietlik, E. M., Welch, C. L., Pauciulo, M. W., Hagen, J. J., Zhou, X., Guo, Y., Karten, J., Pandya, D., Tilly, T., Lutz, K. A., Martin, J. M., Treacy, C. M., Rosenzweig, E. B., Krishnan, U., Coleman, A. W., Gonzaga-Jauregui, C., Lawrie, A., Trembath, R. C., … Chung, W. K. (2021). Rare variant analysis of 4241 pulmonary arterial hypertension cases from an international consortium implicates FBLN2, PDGFD, and rare de novo variants in PAH. Genome Medicine, 13(1). https://doi.org/10.1186/s13073-021-00891-1
Authors:
Na Zhu
Emilia M. Swietlik
Carrie L. Welch
Michael W. Pauciulo
Jacob J. Hagen
Xueya Zhou
Yicheng Guo
Johannes Karten
Divya Pandya
Tobias Tilly
Katie A. Lutz
Jennifer M. Martin
Carmen M. Treacy
Erika B. Rosenzweig
Usha Krishnan
Anna W. Coleman
Claudia Gonzaga-Juaregui
Allan Lawrie
Richard C. Trembath
Martin R. Wilkins
Russel Hirsch
R. James White
Marc Simon
David Badesch
Charles Burger
Murali Chakinala
Thenappan Thenappan
Greg Elliott
Robert Simms
Harrison Farber
Robert Frantz
Jean Elwing
Nicholas Hill
Dunbar Ivy
James Klinger
Steven Nathan
Ronald Oudiz
Ivan Robbins
Robert Schilz
Terry Fortin
Jeffrey Wilt
Delphine Yung
Eric Austin
Ferhaan Ahmad
Nitin Bhatt
Tim Lahm
Adaani Frost
Zeenat Safdar
Zia Rehman
Robert Walter
Fernando Torres
Sahil Bakshi
Stephen Archer
Rahul Argula
Christopher Barnett
Raymond Benza
Ankit Desai
Veeranna Maddipati
Harm J. Bogaard
Colin Church
Gerry Coghlin
Robin Condliffe
Mélanie Eyries
Henning Gall
Stefano Ghio
Barbara Girerd
Simon Holden
Luke Howard
Marc Humbert
David G. Kiely
Gabor Kovacs
Jim Lordan
Rajiv D. Machado
Robert V. MacKenzie Ross
Colm McCabe
Shahin Moledina
David Montani
Horst Olschewski
Christopher J. Penkett
Joanna Pepke-Zaba
Laura Price
Christopher J. Rhodes
Werner Seeger
Florent Soubrier
Laura Southgate
Jay Suntharalingam
Andrew J. Swift
Mark R. Toshner
Anton Vonk Noordegraaf
John Wharton
Jim Wild
Stephen John Wort
Colin Church
Laura Price
Andrew J. Swift
Mark R. Toshner
Nicholas W. Morrell
Yufeng Shen
Stefan Gräf
William C. Nichols
Wendy K. Chung
Affiliated Authors:
Na Zhu
Carrie L. Welch
Jacob J. Hagen
Xueya Zhou
Yicheng Guo
Erika B. Rosenzweig
Usha Krishnan
Yufeng Shen
Wendy K. Chung
Columbia Affiliation:
Author Keywords:
case-control association testing
de novo variant analysis
exome sequencing
genetics
genome sequencing
pulmonary arterial hypertension
elink
Publication Type:
Article
Unique ID:
10.1186/s13073-021-00891-1
PMID:
33971972
DOI:
10.1186/s13073-021-00891-1
Journal:
Genome Medicine
Publication Date:
Data Source:
Scopus
Source Link:
View Scopus Record

Record Created: