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Page 1
The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants.
Stefanucci L, Collins J, Sims MC, Barrio-Hernandez I, Sun L, Burren OS, Perfetto L, Bender I, Callahan TJ, Fleming K, Guerrero JA, Hermjakob H, Martin MJ, Stephenson J, Paneerselvam K, Petrovski S, Porras P, Robinson PN, Wang Q, Watkins X, Frontini M, Laskowski RA, Beltrao P, Di Angelantonio E, Gomez K, Laffan M, Ouwehand WH, Mumford AD, Freson K, Carss K, Downes K, Gleadall N, Megy K, Bruford E, Vuckovic D. Stefanucci L, et al. Among authors: ouwehand wh. Blood. 2023 Dec 14;142(24):2055-2068. doi: 10.1182/blood.2023020118. Blood. 2023. PMID: 37647632 Free PMC article.
Inherited platelet disorders: toward DNA-based diagnosis.
Lentaigne C, Freson K, Laffan MA, Turro E, Ouwehand WH; BRIDGE-BPD Consortium and the ThromboGenomics Consortium. Lentaigne C, et al. Among authors: ouwehand wh. Blood. 2016 Jun 9;127(23):2814-23. doi: 10.1182/blood-2016-03-378588. Epub 2016 Apr 19. Blood. 2016. PMID: 27095789 Free PMC article. Review.
A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders.
Simeoni I, Stephens JC, Hu F, Deevi SV, Megy K, Bariana TK, Lentaigne C, Schulman S, Sivapalaratnam S, Vries MJ, Westbury SK, Greene D, Papadia S, Alessi MC, Attwood AP, Ballmaier M, Baynam G, Bermejo E, Bertoli M, Bray PF, Bury L, Cattaneo M, Collins P, Daugherty LC, Favier R, French DL, Furie B, Gattens M, Germeshausen M, Ghevaert C, Goodeve AC, Guerrero JA, Hampshire DJ, Hart DP, Heemskerk JW, Henskens YM, Hill M, Hogg N, Jolley JD, Kahr WH, Kelly AM, Kerr R, Kostadima M, Kunishima S, Lambert MP, Liesner R, López JA, Mapeta RP, Mathias M, Millar CM, Nathwani A, Neerman-Arbez M, Nurden AT, Nurden P, Othman M, Peerlinck K, Perry DJ, Poudel P, Reitsma P, Rondina MT, Smethurst PA, Stevenson W, Szkotak A, Tuna S, van Geet C, Whitehorn D, Wilcox DA, Zhang B, Revel-Vilk S, Gresele P, Bellissimo DB, Penkett CJ, Laffan MA, Mumford AD, Rendon A, Gomez K, Freson K, Ouwehand WH, Turro E. Simeoni I, et al. Among authors: ouwehand wh. Blood. 2016 Jun 9;127(23):2791-803. doi: 10.1182/blood-2015-12-688267. Epub 2016 Apr 15. Blood. 2016. PMID: 27084890 Free PMC article.
Rare variants in GP1BB are responsible for autosomal dominant macrothrombocytopenia.
Sivapalaratnam S, Westbury SK, Stephens JC, Greene D, Downes K, Kelly AM, Lentaigne C, Astle WJ, Huizinga EG, Nurden P, Papadia S, Peerlinck K, Penkett CJ, Perry DJ, Roughley C, Simeoni I, Stirrups K, Hart DP, Tait RC, Mumford AD; NIHR BioResource; Laffan MA, Freson K, Ouwehand WH, Kunishima S, Turro E. Sivapalaratnam S, et al. Among authors: ouwehand wh. Blood. 2017 Jan 26;129(4):520-524. doi: 10.1182/blood-2016-08-732248. Epub 2016 Nov 14. Blood. 2017. PMID: 28064200 Free PMC article.
Expanded repertoire of RASGRP2 variants responsible for platelet dysfunction and severe bleeding.
Westbury SK, Canault M, Greene D, Bermejo E, Hanlon K, Lambert MP, Millar CM, Nurden P, Obaji SG, Revel-Vilk S, Van Geet C, Downes K, Papadia S, Tuna S, Watt C; NIHR BioResource–Rare Diseases Consortium; Freson K, Laffan MA, Ouwehand WH, Alessi MC, Turro E, Mumford AD. Westbury SK, et al. Among authors: ouwehand wh. Blood. 2017 Aug 24;130(8):1026-1030. doi: 10.1182/blood-2017-03-776773. Epub 2017 Jun 21. Blood. 2017. PMID: 28637664 Free PMC article.
Phenotype description and response to thrombopoietin receptor agonist in DIAPH1-related disorder.
Westbury SK, Downes K, Burney C, Lozano ML, Obaji SG, Toh CH, Sevivas T, Morgan NV, Erber WN, Kempster C, Moore SF, Thys C, Papadia S, Ouwehand WH; NIHR BioResource–Rare Diseases; Laffan MA, Gomez K, Freson K, Rivera J, Mumford AD. Westbury SK, et al. Among authors: ouwehand wh. Blood Adv. 2018 Sep 25;2(18):2341-2346. doi: 10.1182/bloodadvances.2018020370. Blood Adv. 2018. PMID: 30232087 Free PMC article.
Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.
Downes K, Megy K, Duarte D, Vries M, Gebhart J, Hofer S, Shamardina O, Deevi SVV, Stephens J, Mapeta R, Tuna S, Al Hasso N, Besser MW, Cooper N, Daugherty L, Gleadall N, Greene D, Haimel M, Martin H, Papadia S, Revel-Vilk S, Sivapalaratnam S, Symington E, Thomas W, Thys C, Tolios A, Penkett CJ; NIHR BioResource; Ouwehand WH, Abbs S, Laffan MA, Turro E, Simeoni I, Mumford AD, Henskens YMC, Pabinger I, Gomez K, Freson K. Downes K, et al. Among authors: ouwehand wh. Blood. 2019 Dec 5;134(23):2082-2091. doi: 10.1182/blood.2018891192. Blood. 2019. PMID: 31064749 Free PMC article.
Germline mutations in the transcription factor IKZF5 cause thrombocytopenia.
Lentaigne C, Greene D, Sivapalaratnam S, Favier R, Seyres D, Thys C, Grassi L, Mangles S, Sibson K, Stubbs M, Burden F, Bordet JC, Armari-Alla C, Erber W, Farrow S, Gleadall N, Gomez K, Megy K, Papadia S, Penkett CJ, Sims MC, Stefanucci L, Stephens JC, Read RJ, Stirrups KE, Ouwehand WH, Laffan MA; NIHR BioResource; Frontini M, Freson K, Turro E. Lentaigne C, et al. Among authors: ouwehand wh. Blood. 2019 Dec 5;134(23):2070-2081. doi: 10.1182/blood.2019000782. Blood. 2019. PMID: 31217188 Free article.
Novel manifestations of immune dysregulation and granule defects in gray platelet syndrome.
Sims MC, Mayer L, Collins JH, Bariana TK, Megy K, Lavenu-Bombled C, Seyres D, Kollipara L, Burden FS, Greene D, Lee D, Rodriguez-Romera A, Alessi MC, Astle WJ, Bahou WF, Bury L, Chalmers E, Da Silva R, De Candia E, Deevi SVV, Farrow S, Gomez K, Grassi L, Greinacher A, Gresele P, Hart D, Hurtaud MF, Kelly AM, Kerr R, Le Quellec S, Leblanc T, Leinøe EB, Mapeta R, McKinney H, Michelson AD, Morais S, Nugent D, Papadia S, Park SJ, Pasi J, Podda GM, Poon MC, Reed R, Sekhar M, Shalev H, Sivapalaratnam S, Steinberg-Shemer O, Stephens JC, Tait RC, Turro E, Wu JKM, Zieger B; NIHR BioResource; Kuijpers TW, Whetton AD, Sickmann A, Freson K, Downes K, Erber WN, Frontini M, Nurden P, Ouwehand WH, Favier R, Guerrero JA. Sims MC, et al. Among authors: ouwehand wh. Blood. 2020 Oct 22;136(17):1956-1967. doi: 10.1182/blood.2019004776. Blood. 2020. PMID: 32693407 Free PMC article.
369 results