Literature DB >> 22118648

Rapid genetic diagnosis of heritable platelet function disorders with next-generation sequencing: proof-of-principle with Hermansky-Pudlak syndrome.

M L Jones, S L Murden, D Bem, S J Mundell, P Gissen, M E Daly, S P Watson, A D Mumford.   

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Year:  2012        PMID： 22118648     DOI： 10.1111/j.1538-7836.2011.04569.x

Source DB:  PubMed          Journal:  J Thromb Haemost        ISSN： 1538-7836            Impact factor:   5.824


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  10 in total

1.  State of the art in platelet function testing.

Authors:  Beate E Kehrel; Martin F Brodde
Journal:  Transfus Med Hemother       Date:  2013-03-18       Impact factor: 3.747

Review 2.  Genetic sequence analysis of inherited bleeding diseases.

Authors:  Flora Peyvandi; Tom Kunicki; David Lillicrap
Journal:  Blood       Date:  2013-10-11       Impact factor: 22.113

3.  Identification of Three Novel Mutations in the FANCA, FANCC, and ITGA2B Genes by Whole Exome Sequencing.

Authors:  Samira Negahdari; Mina Zamani; Tahereh Seifi; Sahar Sedighzadeh; Neda Mazaheri; Jawaher Zeighami; Alireza Sedaghat; Alihossein Saberi; Mohammad Hamid; Bijan Keikhaei; Ramin Radpour; Gholamreza Shariati; Hamid Galehdari
Journal:  Int J Prev Med       Date:  2020-08-06

4.  Evaluation of participants with suspected heritable platelet function disorders including recommendation and validation of a streamlined agonist panel.

Authors:  Ban B Dawood; Gillian C Lowe; Marie Lordkipanidzé; Danai Bem; Martina E Daly; Mike Makris; Andrew Mumford; Jonathan T Wilde; Steve P Watson
Journal:  Blood       Date:  2012-09-21       Impact factor: 22.113

Review 5.  Rare platelet GPCR variants: what can we learn?

Authors:  S P Nisar; M L Jones; M R Cunningham; A D Mumford; S J Mundell
Journal:  Br J Pharmacol       Date:  2014-11-24       Impact factor: 8.739

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.  Diversity and impact of rare variants in genes encoding the platelet G protein-coupled receptors.

Authors:  Matthew L Jones; Jane E Norman; Neil V Morgan; Stuart J Mundell; Marie Lordkipanidzé; Gillian C Lowe; Martina E Daly; Michael A Simpson; Sian Drake; Steve P Watson; Andrew D Mumford
Journal:  Thromb Haemost       Date:  2015-01-08       Impact factor: 5.249

Review 8.  Genetic and laboratory diagnostic approach in Niemann Pick disease type C.

Authors:  K McKay Bounford; P Gissen
Journal:  J Neurol       Date:  2014-09       Impact factor: 4.849

9.  Hermansky-Pudlak syndrome: Mutation update.

Authors:  Marjan Huizing; May C V Malicdan; Jennifer A Wang; Hadass Pri-Chen; Richard A Hess; Roxanne Fischer; Kevin J O'Brien; Melissa A Merideth; William A Gahl; Bernadette R Gochuico
Journal:  Hum Mutat       Date:  2020-01-23       Impact factor: 4.700

Review 10.  Inherited platelet disorders: Insight from platelet genomics using next-generation sequencing.

Authors:  Annabel Maclachlan; Steve P Watson; Neil V Morgan
Journal:  Platelets       Date:  2016-06-27       Impact factor: 3.862
  10 in total

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