A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders
Ilenia Simeoni(University of Cambridge), Carolyn M. Millar(National Health Service), Suthesh Sivapalaratnam(National Health Service), Walter H.A. Kahr(University of Toronto), Matthias Ballmaier(Medizinische Hochschule Hannover), Manuela Germeshausen(Medizinische Hochschule Hannover), Rémi Favier(Inserm), Marie‐Christine Alessi(Inserm), Tadbir K. Bariana(Royal Free London NHS Foundation Trust), Johan W. M. Heemskerk(Maastricht University), Emilsé Bermejo(Academia Nacional de Medicina), Karyn Mégy(NHS Blood and Transplant), Louise C. Daugherty(University of Cambridge), Anne Goodeve(University of Sheffield), Shinji Kunishima(Nagoya Medical Center), Fengyuan Hu(Babraham Institute), Daniel J. Hampshire(National Health Service), Myrto Kostadima(National Health Service), Mary Mathias(Ninewells Hospital), Cédric Ghevaert(NHS Blood and Transplant), Michele P. Lambert(Children's Hospital of Philadelphia), Antony Attwood(Wellcome Sanger Institute), Paul F. Bray(Baylor College of Medicine), Rutendo Mapeta(NHS Blood and Transplant), Sol Schulman(Beth Israel Deaconess Medical Center), José A. Guerrero(Centro Regional de Hemodonación), Daniel P. Hart(National Health Service), Ri Liesner(Goshen College), Claire Lentaigne(Hammersmith Hospital), Sarah K. Westbury(University of Bristol), Sofia Papadia(University of Edinburgh), Jonathan Stephens(NHS Blood and Transplant), Loredana Bury(University of Pavia), Bruce Furie(Beth Israel Deaconess Medical Center), Michael Gattens(National Health Service), Anne M. Kelly(National Health Service), Yvonne Henskens(Maastricht University Medical Centre), Daniel Greene(University of Cambridge), Ron Kerr(Ninewells Hospital), Marco Cattaneo(Ospedale Maggiore), Gareth Baynam(Government of Western Australia Department of Health), José A. López(Bloodworks Northwest), Sri V. V. Deevi(University of Cambridge), Jennifer D. Jolley(University of Cambridge), Marta Bértoli(Fatebenefratelli Hospital), Peter Collins(Cardiff University), Nancy Hogg(Cancer Research UK), Marian Hill(National Health Service), Minka J. A. Vries(Maastricht University), Deborah L. French(Children's Hospital of Philadelphia)
Cited by 184
Related Papers
Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls
|Nature|2007|9.6k
Lineage-Specific Genome Architecture Links Enhancers and Non-coding Disease Variants to Target Gene Promoters
|Cell|2016|1.2k
Guidelines on the diagnosis and management of thrombotic thrombocytopenic purpura and other thrombotic microangiopathies
|British Journal of Haematology|2012|861
PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels
|Nature Genetics|2019|590