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Page 1
Next-generation sequencing for the diagnosis of MYH9-RD: Predicting pathogenic variants.
Bury L, Megy K, Stephens JC, Grassi L, Greene D, Gleadall N, Althaus K, Allsup D, Bariana TK, Bonduel M, Butta NV, Collins P, Curry N, Deevi SVV, Downes K, Duarte D, Elliott K, Falcinelli E, Furie B, Keeling D, Lambert MP, Linger R, Mangles S, Mapeta R, Millar CM, Penkett C, Perry DJ, Stirrups KE, Turro E, Westbury SK, Wu J, BioResource N, Gomez K, Freson K, Ouwehand WH, Gresele P, Simeoni I. Bury L, et al. Among authors: bioresource n. Hum Mutat. 2020 Jan;41(1):277-290. doi: 10.1002/humu.23927. Epub 2019 Oct 15. Hum Mutat. 2020. PMID: 31562665 Free PMC article.
Sphingolipid dysregulation due to lack of functional KDSR impairs proplatelet formation causing thrombocytopenia.
Bariana TK, Labarque V, Heremans J, Thys C, De Reys M, Greene D, Jenkins B, Grassi L, Seyres D, Burden F, Whitehorn D, Shamardina O, Papadia S, Gomez K, BioResource N, Van Geet C, Koulman A, Ouwehand WH, Ghevaert C, Frontini M, Turro E, Freson K. Bariana TK, et al. Among authors: bioresource n. Haematologica. 2019 May;104(5):1036-1045. doi: 10.3324/haematol.2018.204784. Epub 2018 Nov 22. Haematologica. 2019. PMID: 30467204 Free PMC article.
Exploring the relevance of NUP93 variants in steroid-resistant nephrotic syndrome using next generation sequencing and a fly kidney model.
Bierzynska A, Bull K, Miellet S, Dean P, Neal C, Colby E, McCarthy HJ, Hegde S, Sinha MD, Bugarin Diz C, Stirrups K, Megy K, Mapeta R, Penkett C, Marsh S, Forrester N, Afzal M, Stark H, BioResource N, Williams M, Welsh GI, Koziell AB, Hartley PS, Saleem MA. Bierzynska A, et al. Among authors: bioresource n. Pediatr Nephrol. 2022 Nov;37(11):2643-2656. doi: 10.1007/s00467-022-05440-5. Epub 2022 Feb 24. Pediatr Nephrol. 2022. PMID: 35211795 Free PMC article.
Germline variants in ETV6 underlie reduced platelet formation, platelet dysfunction and increased levels of circulating CD34+ progenitors.
Poggi M, Canault M, Favier M, Turro E, Saultier P, Ghalloussi D, Baccini V, Vidal L, Mezzapesa A, Chelghoum N, Mohand-Oumoussa B, Falaise C, Favier R, Ouwehand WH, Fiore M, Peiretti F, Morange PE, Saut N, Bernot D, Greinacher A, BioResource N, Nurden AT, Nurden P, Freson K, Trégouët DA, Raslova H, Alessi MC. Poggi M, et al. Among authors: bioresource n. Haematologica. 2017 Feb;102(2):282-294. doi: 10.3324/haematol.2016.147694. Epub 2016 Sep 23. Haematologica. 2017. PMID: 27663637 Free PMC article.
Identification of a homozygous recessive variant in PTGS1 resulting in a congenital aspirin-like defect in platelet function.
Chan MV, Hayman MA, Sivapalaratnam S, Crescente M, Allan HE, Edin ML, Zeldin DC, Milne GL, Stephens J, Greene D, Hanif M, O'Donnell VB, Dong L, Malkowski MG, Lentaigne C, Wedderburn K, Stubbs M, Downes K, Ouwehand WH, Turro E, BioResource N, Hart DP, Freson K, Laffan MA, Warner TD. Chan MV, et al. Among authors: bioresource n. Haematologica. 2021 May 1;106(5):1423-1432. doi: 10.3324/haematol.2019.235895. Haematologica. 2021. PMID: 32299908 Free PMC article.
The common, VTE-protective, G haplotype of F5 increases factor V-short, TFPI function, and risk of bleeding.
Sims MC, Gierula M, Stephens JC, Tokolyi A, Stefanucci L, Persyn E, Sun L, Collins JH, Davenport E, Di Angelantonio E, Downes K, Inouye M, Paul DS, Thomas W, Tolios A, BioResource N, Ouwehand WH, Gleadall NS, Crawley JTB, Butterworth AS, Frontini M, Ahnstrom J. Sims MC, et al. Among authors: bioresource n. Blood Adv. 2024 Oct 4:bloodadvances.2024014020. doi: 10.1182/bloodadvances.2024014020. Online ahead of print. Blood Adv. 2024. PMID: 39365993
Planning to conceive within a year is associated with better pregnancy-specific disease-related patient knowledge and better medication adherence in women of childbearing age with inflammatory bowel disease.
Selinger CP, Laube R, Steed H, Brookes M, BioResource N, Leong RWL. Selinger CP, et al. Among authors: bioresource n. Therap Adv Gastroenterol. 2023 Aug 30;16:17562848231193211. doi: 10.1177/17562848231193211. eCollection 2023. Therap Adv Gastroenterol. 2023. PMID: 37667806 Free PMC article.