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Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis.
Ewans LJ, Minoche AE, Schofield D, Shrestha R, Puttick C, Zhu Y, Drew A, Gayevskiy V, Elakis G, Walsh C, Adès LC, Colley A, Ellaway C, Evans CA, Freckmann ML, Goodwin L, Hackett A, Kamien B, Kirk EP, Lipke M, Mowat D, Palmer E, Rajagopalan S, Ronan A, Sachdev R, Stevenson W, Turner A, Wilson M, Worgan L, Morel-Kopp MC, Field M, Buckley MF, Cowley MJ, Dinger ME, Roscioli T. Ewans LJ, et al. Among authors: stevenson w. Eur J Hum Genet. 2022 Oct;30(10):1121-1131. doi: 10.1038/s41431-022-01162-2. Epub 2022 Aug 15. Eur J Hum Genet. 2022. PMID: 35970915 Free PMC article.
GFI1B variants associated with thrombocytopenia.
Rabbolini DJ, Morel-Kopp MC, Ward CM, Stevenson WS. Rabbolini DJ, et al. Platelets. 2017 Jul;28(5):525-527. doi: 10.1080/09537104.2017.1317734. Epub 2017 Jun 5. Platelets. 2017. PMID: 28580815 No abstract available.
Diagnosis and treatment of MYH9-RD in an Australasian cohort with thrombocytopenia.
Rabbolini DJ, Chun Y, Latimer M, Kunishima S, Fixter K, Valecha B, Tan P, Chew LP, Kile BT, Burt R, Radhakrishnan K, Bird R, Ockelford P, Gabrielli S, Chen Q, Stevenson WS, Ward CM, Morel-Kopp MC. Rabbolini DJ, et al. Platelets. 2018 Dec;29(8):793-800. doi: 10.1080/09537104.2017.1356920. Epub 2017 Nov 1. Platelets. 2018. PMID: 29090586
Building platelet phenotypes: Diaphanous-related formin 1 (DIAPH1)-related disorder.
Rabbolini D, Liang HPH, Morel-Kopp MC, Connor D, Whittaker S, Dunkley S, Donikian D, Kondo M, Chen W, Stevenson WS, Campbell H, Joseph J, Ward C, Brighton T, Chen VM; Sydney Platelet Group. Rabbolini D, et al. Among authors: stevenson ws. Platelets. 2022 Apr 3;33(3):432-442. doi: 10.1080/09537104.2021.1937593. Epub 2021 Jul 5. Platelets. 2022. PMID: 34223798
Platelets are not all gray in GFI1B disease.
Stevenson WS, Morel-Kopp MC, Ward CM. Stevenson WS, et al. Clin Genet. 2015 Mar;87(3):299. doi: 10.1111/cge.12424. Epub 2014 Jul 21. Clin Genet. 2015. PMID: 25039911 No abstract available.
976 results