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Curated disease-causing genes for bleeding, thrombotic, and platelet disorders: Communication from the SSC of the ISTH.
Megy K, Downes K, Simeoni I, Bury L, Morales J, Mapeta R, Bellissimo DB, Bray PF, Goodeve AC, Gresele P, Lambert M, Reitsma P, Ouwehand WH, Freson K; Subcommittee on Genomics in Thrombosis and Hemostasis. Megy K, et al. Among authors: lambert m. J Thromb Haemost. 2019 Aug;17(8):1253-1260. doi: 10.1111/jth.14479. Epub 2019 Jun 9. J Thromb Haemost. 2019. PMID: 31179617 Free PMC article. No abstract available.
Germline selection shapes human mitochondrial DNA diversity.
Wei W, Tuna S, Keogh MJ, Smith KR, Aitman TJ, Beales PL, Bennett DL, Gale DP, Bitner-Glindzicz MAK, Black GC, Brennan P, Elliott P, Flinter FA, Floto RA, Houlden H, Irving M, Koziell A, Maher ER, Markus HS, Morrell NW, Newman WG, Roberts I, Sayer JA, Smith KGC, Taylor JC, Watkins H, Webster AR, Wilkie AOM, Williamson C; NIHR BioResource–Rare Diseases; 100,000 Genomes Project–Rare Diseases Pilot; Ashford S, Penkett CJ, Stirrups KE, Rendon A, Ouwehand WH, Bradley JR, Raymond FL, Caulfield M, Turro E, Chinnery PF. Wei W, et al. Science. 2019 May 24;364(6442):eaau6520. doi: 10.1126/science.aau6520. Epub 2019 May 23. Science. 2019. PMID: 31123110 Free article.
Validation of the ISTH/SSC bleeding assessment tool for inherited platelet disorders: A communication from the Platelet Physiology SSC.
Gresele P, Orsini S, Noris P, Falcinelli E, Alessi MC, Bury L, Borhany M, Santoro C, Glembotsky AC, Cid AR, Tosetto A, De Candia E, Fontana P, Guglielmini G, Pecci A; BAT-VAL study investigators. Gresele P, et al. J Thromb Haemost. 2020 Mar;18(3):732-739. doi: 10.1111/jth.14683. Epub 2019 Dec 16. J Thromb Haemost. 2020. PMID: 31750621 Free article.
Whole-genome sequencing of patients with rare diseases in a national health system.
Turro E, Astle WJ, Megy K, Gräf S, Greene D, Shamardina O, Allen HL, Sanchis-Juan A, Frontini M, Thys C, Stephens J, Mapeta R, Burren OS, Downes K, Haimel M, Tuna S, Deevi SVV, Aitman TJ, Bennett DL, Calleja P, Carss K, Caulfield MJ, Chinnery PF, Dixon PH, Gale DP, James R, Koziell A, Laffan MA, Levine AP, Maher ER, Markus HS, Morales J, Morrell NW, Mumford AD, Ormondroyd E, Rankin S, Rendon A, Richardson S, Roberts I, Roy NBA, Saleem MA, Smith KGC, Stark H, Tan RYY, Themistocleous AC, Thrasher AJ, Watkins H, Webster AR, Wilkins MR, Williamson C, Whitworth J, Humphray S, Bentley DR; NIHR BioResource for the 100,000 Genomes Project; Kingston N, Walker N, Bradley JR, Ashford S, Penkett CJ, Freson K, Stirrups KE, Raymond FL, Ouwehand WH. Turro E, et al. Nature. 2020 Jul;583(7814):96-102. doi: 10.1038/s41586-020-2434-2. Epub 2020 Jun 24. Nature. 2020. PMID: 32581362 Free PMC article.
Clinical management, ethics and informed consent related to multi-gene panel-based high throughput sequencing testing for platelet disorders: Communication from the SSC of the ISTH.
Downes K, Borry P, Ericson K, Gomez K, Greinacher A, Lambert M, Leinoe E, Noris P, Van Geet C, Freson K; Subcommittee on Genomics in Thrombosis, Hemostasis. Downes K, et al. Among authors: lambert m. J Thromb Haemost. 2020 Oct;18(10):2751-2758. doi: 10.1111/jth.14993. J Thromb Haemost. 2020. PMID: 33079472 Free PMC article.
Association of laboratory test results with the bleeding history in patients with inherited platelet function disorders (the Bleeding Assesment Tool - LABoratory tests substudy): communication from the Platelet Physiology ISTH-SSC.
Gresele P, Falcinelli E, Bury L, Alessi MC, Guglielmini G, Falaise C, Podda G, Fiore M, Mazziotta F, Sevivas T, Bermejo N, De Candia E, Chitlur M, Lambert MP, Barcella L, Glembotsky AC, Lordkipanidzé M. Gresele P, et al. Among authors: lambert mp. Res Pract Thromb Haemost. 2023 Dec 20;8(1):102305. doi: 10.1016/j.rpth.2023.102305. eCollection 2024 Jan. Res Pract Thromb Haemost. 2023. PMID: 38292347 Free PMC article.
Illustrated State-of-the-Art Capsules of the ISTH 2020 Congress.
Ariens R, Becattini C, Bender M, Bergmeier W, Castoldi E, Devreese K, Ellis M, Gailani D, Ignjatovic V, James PD, Kerrigan S, Lambert M, Lee LH, Levi M, Maugeri N, Meijers J, Melero-Martin J, Michelson AD, Mingozzi F, Neeves K, Ni H, Olsson AK, Prohászka Z, Ranson M, Riva N, Senis Y, van Ommen CH, Vaughan DE, Weisel J. Ariens R, et al. Among authors: lambert m. Res Pract Thromb Haemost. 2020 Jul 12;4(5):680-713. doi: 10.1002/rth2.12368. eCollection 2020 Jul. Res Pract Thromb Haemost. 2020. PMID: 32685876 Free PMC article.
2,677 results