학술논문
The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants
Document Type
article
Author
Ana Rio-Machin; Tom Vulliamy; Nele Hug; Amanda Walne; Kiran Tawana; Shirleny Cardoso; Alicia Ellison; Nikolas Pontikos; Jun Wang; Hemanth Tummala; Ahad Fahad H. Al Seraihi; Jenna Alnajar; Findlay Bewicke-Copley; Hannah Armes; Michael Barnett; Adrian Bloor; Csaba Bödör; David Bowen; Pierre Fenaux; Andrew Green; Andrew Hallahan; Henrik Hjorth-Hansen; Upal Hossain; Sally Killick; Sarah Lawson; Mark Layton; Alison M. Male; Judith Marsh; Priyanka Mehta; Rogier Mous; Josep F. Nomdedéu; Carolyn Owen; Jiri Pavlu; Elspeth M. Payne; Rachel E. Protheroe; Claude Preudhomme; Nuria Pujol-Moix; Aline Renneville; Nigel Russell; Anand Saggar; Gabriela Sciuccati; David Taussig; Cynthia L. Toze; Anne Uyttebroeck; Peter Vandenberghe; Brigitte Schlegelberger; Tim Ripperger; Doris Steinemann; John Wu; Joanne Mason; Paula Page; Susanna Akiki; Kim Reay; Jamie D. Cavenagh; Vincent Plagnol; Javier F. Caceres; Jude Fitzgibbon; Inderjeet Dokal
Source
Nature Communications, Vol 11, Iss 1, Pp 1-12 (2020)
Subject
Language
English
ISSN
2041-1723
Abstract
Familial myeloid malignancies have recently been classified as separate disease entities. Here, using whole-exome sequencing of affected pedigrees - the authors highlight genetic variants associated with these conditions.