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Literature DB >> 29290630

High-throughput sequencing for rapid diagnosis of inherited platelet disorders: a case for a European consensus.

Alan T Nurden¹, Paquita Nurden².

Abstract

Entities: Disease

Mesh：

Year: 2018 PMID： 29290630 PMCID： PMC5777186 DOI： 10.3324/haematol.2017.182295

Source DB: PubMed Journal: Haematologica ISSN： 0390-6078 Impact factor: 9.941

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20 in total

1. Combined alpha-delta platelet storage pool deficiency is associated with mutations in GFI1B.

Authors: Carlos R Ferreira; Dong Chen; Shirley M Abraham; David R Adams; Karen L Simon; May C Malicdan; Thomas C Markello; Meral Gunay-Aygun; William A Gahl
Journal: Mol Genet Metab Date: 2016-12-18 Impact factor: 4.797

2. Diagnosis of suspected inherited platelet function disorders: results of a worldwide survey.

Authors: P Gresele; P Harrison; L Bury; E Falcinelli; C Gachet; C P Hayward; D Kenny; D Mezzano; A D Mumford; D Nugent; A T Nurden; S Orsini; M Cattaneo
Journal: J Thromb Haemost Date: 2014-07-25 Impact factor: 5.824

3. Linkage disequilibrium amongst ITGA2B and ITGB3 gene variants in patients with Glanzmann thrombasthenia confirms that most disease-causing mutations are recent.

Authors: Xavier Pillois; Alan T Nurden
Journal: Br J Haematol Date: 2016-07-29 Impact factor: 6.998

4. A dominant gain-of-function mutation in universal tyrosine kinase SRC causes thrombocytopenia, myelofibrosis, bleeding, and bone pathologies.

Authors: Ernest Turro; Daniel Greene; Anouck Wijgaerts; Chantal Thys; Claire Lentaigne; Tadbir K Bariana; Sarah K Westbury; Anne M Kelly; Dominik Selleslag; Jonathan C Stephens; Sofia Papadia; Ilenia Simeoni; Christopher J Penkett; Sofie Ashford; Antony Attwood; Steve Austin; Tamam Bakchoul; Peter Collins; Sri V V Deevi; Rémi Favier; Myrto Kostadima; Michele P Lambert; Mary Mathias; Carolyn M Millar; Kathelijne Peerlinck; David J Perry; Sol Schulman; Deborah Whitehorn; Christine Wittevrongel; Marc De Maeyer; Augusto Rendon; Keith Gomez; Wendy N Erber; Andrew D Mumford; Paquita Nurden; Kathleen Stirrups; John R Bradley; F Lucy Raymond; Michael A Laffan; Chris Van Geet; Sylvia Richardson; Kathleen Freson; Willem H Ouwehand
Journal: Sci Transl Med Date: 2016-03-02 Impact factor: 17.956

5. A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders.

Authors: Ilenia Simeoni; Jonathan C Stephens; Fengyuan Hu; Sri V V Deevi; Karyn Megy; Tadbir K Bariana; Claire Lentaigne; Sol Schulman; Suthesh Sivapalaratnam; Minka J A Vries; Sarah K Westbury; Daniel Greene; Sofia Papadia; Marie-Christine Alessi; Antony P Attwood; Matthias Ballmaier; Gareth Baynam; Emilse Bermejo; Marta Bertoli; Paul F Bray; Loredana Bury; Marco Cattaneo; Peter Collins; Louise C Daugherty; Rémi Favier; Deborah L French; Bruce Furie; Michael Gattens; Manuela Germeshausen; Cedric Ghevaert; Anne C Goodeve; Jose A Guerrero; Daniel J Hampshire; Daniel P Hart; Johan W M Heemskerk; Yvonne M C Henskens; Marian Hill; Nancy Hogg; Jennifer D Jolley; Walter H Kahr; Anne M Kelly; Ron Kerr; Myrto Kostadima; Shinji Kunishima; Michele P Lambert; Ri Liesner; José A López; Rutendo P Mapeta; Mary Mathias; Carolyn M Millar; Amit Nathwani; Marguerite Neerman-Arbez; Alan T Nurden; Paquita Nurden; Maha Othman; Kathelijne Peerlinck; David J Perry; Pawan Poudel; Pieter Reitsma; Matthew T Rondina; Peter A Smethurst; William Stevenson; Artur Szkotak; Salih Tuna; Christel van Geet; Deborah Whitehorn; David A Wilcox; Bin Zhang; Shoshana Revel-Vilk; Paolo Gresele; Daniel B Bellissimo; Christopher J Penkett; Michael A Laffan; Andrew D Mumford; Augusto Rendon; Keith Gomez; Kathleen Freson; Willem H Ouwehand; Ernest Turro
Journal: Blood Date: 2016-04-15 Impact factor: 25.476

6. The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

Authors: William J Astle; Heather Elding; Tao Jiang; Dave Allen; Dace Ruklisa; Alice L Mann; Daniel Mead; Heleen Bouman; Fernando Riveros-Mckay; Myrto A Kostadima; John J Lambourne; Suthesh Sivapalaratnam; Kate Downes; Kousik Kundu; Lorenzo Bomba; Kim Berentsen; John R Bradley; Louise C Daugherty; Olivier Delaneau; Kathleen Freson; Stephen F Garner; Luigi Grassi; Jose Guerrero; Matthias Haimel; Eva M Janssen-Megens; Anita Kaan; Mihir Kamat; Bowon Kim; Amit Mandoli; Jonathan Marchini; Joost H A Martens; Stuart Meacham; Karyn Megy; Jared O'Connell; Romina Petersen; Nilofar Sharifi; Simon M Sheard; James R Staley; Salih Tuna; Martijn van der Ent; Klaudia Walter; Shuang-Yin Wang; Eleanor Wheeler; Steven P Wilder; Valentina Iotchkova; Carmel Moore; Jennifer Sambrook; Hendrik G Stunnenberg; Emanuele Di Angelantonio; Stephen Kaptoge; Taco W Kuijpers; Enrique Carrillo-de-Santa-Pau; David Juan; Daniel Rico; Alfonso Valencia; Lu Chen; Bing Ge; Louella Vasquez; Tony Kwan; Diego Garrido-Martín; Stephen Watt; Ying Yang; Roderic Guigo; Stephan Beck; Dirk S Paul; Tomi Pastinen; David Bujold; Guillaume Bourque; Mattia Frontini; John Danesh; David J Roberts; Willem H Ouwehand; Adam S Butterworth; Nicole Soranzo
Journal: Cell Date: 2016-11-17 Impact factor: 41.582

7. Loss of the Arp2/3 complex component ARPC1B causes platelet abnormalities and predisposes to inflammatory disease.

Authors: Walter H A Kahr; Fred G Pluthero; Abdul Elkadri; Neil Warner; Marko Drobac; Chang Hua Chen; Richard W Lo; Ling Li; Ren Li; Qi Li; Cornelia Thoeni; Jie Pan; Gabriella Leung; Irene Lara-Corrales; Ryan Murchie; Ernest Cutz; Ronald M Laxer; Julia Upton; Chaim M Roifman; Rae S M Yeung; John H Brumell; Aleixo M Muise
Journal: Nat Commun Date: 2017-04-03 Impact factor: 14.919

8. A Fast Association Test for Identifying Pathogenic Variants Involved in Rare Diseases.

Authors: Daniel Greene; Sylvia Richardson; Ernest Turro
Journal: Am J Hum Genet Date: 2017-06-29 Impact factor: 11.025

9. Application of whole-exome sequencing to direct the specific functional testing and diagnosis of rare inherited bleeding disorders in patients from the Öresund Region, Scandinavia.

Authors: Eva Leinøe; Eva Zetterberg; Savvas Kinalis; Olga Østrup; Peter Kampmann; Eva Norström; Nadine Andersson; Jenny Klintman; Klaus Qvortrup; Finn Cilius Nielsen; Maria Rossing
Journal: Br J Haematol Date: 2017-07-27 Impact factor: 6.998