Identification and validation of a novel pathogenic variant in GDF2 ( BMP9 ) responsible for hereditary hemorrhagic telangiectasia and pulmonary arteriovenous malformations-Reference-Cited by-同舟云学术

Identification and validation of a novel pathogenic variant in GDF2 ( BMP9 ) responsible for hereditary hemorrhagic telangiectasia and pulmonary arteriovenous malformations

Published:2021-12-13 Issue: Volume: Page:
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Balachandar Srimmitha¹,Graves Tamara J.¹,Shimonty Anika¹,Kerr Katie²,Kilner Jill²,Xiao Sihao³⁴,Slade Richard³⁴,Sroya Manveer⁵,Alikian Mary⁴⁶,Curetean Emanuel⁶,Thomas Ellen⁶⁷,McConnell Vivienne P. M.⁸,McKee Shane⁸,Boardman‐Pretty Freya⁷,Devereau Andrew⁷,Fowler Tom A.⁷⁹,Caulfield Mark J.⁷⁹,Alton Eric W.³⁴,Ferguson Teena⁶,Redhead Julian⁶,McKnight Amy J.²⁴,Thomas Geraldine A.⁵,Aldred Micheala A.¹⁴,Shovlin Claire L.³⁴⁶^ORCID,

Affiliation:

1. Division of Pulmonary, Critical Care, Sleep and Occupational Medicine, Department of Medicine Indiana University School of Medicine Indianapolis Indiana USA

2. School of Medicine, Dentistry and Biomedical Sciences Queen's University Belfast Belfast UK

3. National Heart and Lung Institute Imperial College London London UK

4. Genomics England Respiratory Clinical Interpretation Partnership (GeCIP) London UK

5. Department of Surgery and Cancer Imperial College London London UK

6. West London Genomic Medicine Centre, Imperial College Healthcare NHS Trust London UK

7. Genomics England London UK

8. Regional Genetics Service, Belfast Health and Social Care Trust Belfast UK

9. William Harvey Research Institute Queen Mary University of London London UK

Funder

National Heart, Lung, and Blood Institute

National Institute for Health Research

Publisher