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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: wu j. 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.
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: wu jkm. Blood. 2020 Oct 22;136(17):1956-1967. doi: 10.1182/blood.2019004776. Blood. 2020. PMID: 32693407 Free PMC article.
Improving diagnostic precision, care and syndrome definitions using comprehensive next-generation sequencing for the inherited bone marrow failure syndromes.
Ghemlas I, Li H, Zlateska B, Klaassen R, Fernandez CV, Yanofsky RA, Wu J, Pastore Y, Silva M, Lipton JH, Brossard J, Michon B, Abish S, Steele M, Sinha R, Belletrutti M, Breakey VR, Jardine L, Goodyear L, Sung L, Dhanraj S, Reble E, Wagner A, Beyene J, Ray P, Meyn S, Cada M, Dror Y. Ghemlas I, et al. Among authors: wu j. J Med Genet. 2015 Sep;52(9):575-84. doi: 10.1136/jmedgenet-2015-103270. Epub 2015 Jul 1. J Med Genet. 2015. PMID: 26136524
Simoctocog Alfa (Nuwiq) in Previously Untreated Patients with Severe Haemophilia A: Final Results of the NuProtect Study.
Liesner RJ, Abraham A, Altisent C, Belletrutti MJ, Carcao M, Carvalho M, Chambost H, Chan AKC, Dubey L, Ducore J, Gattens M, Gresele P, Gruel Y, Guillet B, Jimenez-Yuste V, Kitanovski L, Klukowska A, Lohade S, Mancuso ME, Oldenburg J, Pavlova A, Pollio B, Sigaud M, Vdovin V, Vilchevska K, Wu JKM, Jansen M, Belyanskaya L, Walter O, Knaub S, Neufeld EJ. Liesner RJ, et al. Among authors: wu jkm. Thromb Haemost. 2021 Nov;121(11):1400-1408. doi: 10.1055/s-0040-1722623. Epub 2021 Feb 13. Thromb Haemost. 2021. PMID: 33581698 Free PMC article. Clinical Trial.
Simoctocog alfa (Nuwiq®) in previously untreated patients with severe haemophilia A-Final efficacy and safety results from the NuProtect study.
Mathias M, Abraham A, Belletrutti MJ, Carcao M, Carvalho M, Chambost H, Chan AKC, Dubey L, Ducore J, Gattens M, Gresele P, Gruel Y, Guillet B, Jiménez-Yuste V, Kitanovski L, Klukowska A, Lohade S, Mancuso ME, Oldenburg J, Pollio B, Sigaud M, Vilchevska K, Wu JKM, Jansen M, Belyanskaya L, Walter O, Knaub S, Neufeld EJ. Mathias M, et al. Among authors: wu jkm. Eur J Haematol. 2023 Oct;111(4):544-552. doi: 10.1111/ejh.14040. Epub 2023 Jul 13. Eur J Haematol. 2023. PMID: 37439123
Molecular analysis and genotype-phenotype correlation of Diamond-Blackfan anemia.
Arbiv OA, Cuvelier G, Klaassen RJ, Fernandez CV, Robitaille N, Steele M, Breakey V, Abish S, Wu J, Sinha R, Silva M, Goodyear L, Jardine L, Lipton JH, Corriveau-Bourque C, Brossard J, Michon B, Ghemlas I, Waespe N, Zlateska B, Sung L, Cada M, Dror Y. Arbiv OA, et al. Among authors: wu j. Clin Genet. 2018 Feb;93(2):320-328. doi: 10.1111/cge.13158. Epub 2017 Dec 27. Clin Genet. 2018. PMID: 29044489
Immunogenicity, efficacy and safety of Nuwiq® (human-cl rhFVIII) in previously untreated patients with severe haemophilia A-Interim results from the NuProtect Study.
Liesner RJ, Abashidze M, Aleinikova O, Altisent C, Belletrutti MJ, Borel-Derlon A, Carcao M, Chambost H, Chan AKC, Dubey L, Ducore J, Fouzia NA, Gattens M, Gruel Y, Guillet B, Kavardakova N, El Khorassani M, Klukowska A, Lambert T, Lohade S, Sigaud M, Turea V, Wu JKM, Vdovin V, Pavlova A, Jansen M, Belyanskaya L, Walter O, Knaub S, Neufeld EJ. Liesner RJ, et al. Among authors: wu jkm. Haemophilia. 2018 Mar;24(2):211-220. doi: 10.1111/hae.13320. Epub 2017 Aug 16. Haemophilia. 2018. PMID: 28815880 Clinical Trial.
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