Literature DB >> 27282940

Platelet disorders: the next generation is in.

A Koneti Rao1, Natthapol Songdej1.   

Abstract

Mesh：

Year:  2016        PMID： 27282940      PMCID： PMC4900952          DOI： 10.1182/blood-2016-04-703215

Source DB:  PubMed          Journal:  Blood        ISSN： 0006-4971            Impact factor:   22.113


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  8 in total

1.  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

Review 2.  Genotyping and phenotyping of platelet function disorders.

Authors:  S P Watson; G C Lowe; M Lordkipanidzé; N V Morgan
Journal:  J Thromb Haemost       Date:  2013-06       Impact factor: 5.824

3.  A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss.

Authors:  Simon Stritt; Paquita Nurden; Ernest Turro; Daniel Greene; Sjoert B Jansen; Sarah K Westbury; Romina Petersen; William J Astle; Sandrine Marlin; Tadbir K Bariana; Myrto Kostadima; Claire Lentaigne; Stephanie Maiwald; Sofia Papadia; Anne M Kelly; Jonathan C Stephens; Christopher J Penkett; Sofie Ashford; Salih Tuna; Steve Austin; Tamam Bakchoul; Peter Collins; Rémi Favier; Michele P Lambert; Mary Mathias; Carolyn M Millar; Rutendo Mapeta; David J Perry; Sol Schulman; Ilenia Simeoni; Chantal Thys; Keith Gomez; Wendy N Erber; Kathleen Stirrups; Augusto Rendon; John R Bradley; Chris van Geet; F Lucy Raymond; Michael A Laffan; Alan T Nurden; Bernhard Nieswandt; Sylvia Richardson; Kathleen Freson; Willem H Ouwehand; Andrew D Mumford
Journal:  Blood       Date:  2016-02-24       Impact factor: 22.113

4.  Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome.

Authors:  Cornelis A Albers; Ana Cvejic; Rémi Favier; Evelien E Bouwmans; Marie-Christine Alessi; Paul Bertone; Gregory Jordan; Ross N W Kettleborough; Graham Kiddle; Myrto Kostadima; Randy J Read; Botond Sipos; Suthesh Sivapalaratnam; Peter A Smethurst; Jonathan Stephens; Katrin Voss; Alan Nurden; Augusto Rendon; Paquita Nurden; Willem H Ouwehand
Journal:  Nat Genet       Date:  2011-07-17       Impact factor: 38.330

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.  Use of next-generation sequencing and candidate gene analysis to identify underlying defects in patients with inherited platelet function disorders.

Authors:  V C Leo; N V Morgan; D Bem; M L Jones; G C Lowe; M Lordkipanidzé; S Drake; M A Simpson; P Gissen; A Mumford; S P Watson; M E Daly
Journal:  J Thromb Haemost       Date:  2015-01-27       Impact factor: 5.824

7.  Human phenotype ontology annotation and cluster analysis to unravel genetic defects in 707 cases with unexplained bleeding and platelet disorders.

Authors:  Sarah K Westbury; Ernest Turro; Daniel Greene; Claire Lentaigne; Anne M Kelly; Tadbir K Bariana; Ilenia Simeoni; Xavier Pillois; Antony Attwood; Steve Austin; Sjoert Bg Jansen; Tamam Bakchoul; Abi Crisp-Hihn; Wendy N Erber; Rémi Favier; Nicola Foad; Michael Gattens; Jennifer D Jolley; Ri Liesner; Stuart Meacham; Carolyn M Millar; Alan T Nurden; Kathelijne Peerlinck; David J Perry; Pawan Poudel; Sol Schulman; Harald Schulze; Jonathan C Stephens; Bruce Furie; Peter N Robinson; Chris van Geet; Augusto Rendon; Keith Gomez; Michael A Laffan; Michele P Lambert; Paquita Nurden; Willem H Ouwehand; Sylvia Richardson; Andrew D Mumford; Kathleen Freson
Journal:  Genome Med       Date:  2015-04-09       Impact factor: 11.117

Review 8.  Inherited platelet disorders: toward DNA-based diagnosis.

Authors:  Claire Lentaigne; Kathleen Freson; Michael A Laffan; Ernest Turro; Willem H Ouwehand
Journal:  Blood       Date:  2016-04-19       Impact factor: 25.476
  8 in total

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