Morel-Kopp MC - Search Results

1

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: morel kopp mc. 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.

2

Inherited macrothrombocytopenias.

Rabbolini DJ, Morel-Kopp MC, Stevenson W, Ward CM. Rabbolini DJ, et al. Semin Thromb Hemost. 2014 Oct;40(7):774-84. doi: 10.1055/s-0034-1387922. Epub 2014 Aug 31. Semin Thromb Hemost. 2014. PMID: 25173502

3

Paris-Trousseau thrombocytopenia is phenocopied by the autosomal recessive inheritance of a DNA-binding domain mutation in FLI1.

Stevenson WS, Rabbolini DJ, Beutler L, Chen Q, Gabrielli S, Mackay JP, Brighton TA, Ward CM, Morel-Kopp MC. Stevenson WS, et al. Blood. 2015 Oct 22;126(17):2027-30. doi: 10.1182/blood-2015-06-650887. Epub 2015 Aug 27. Blood. 2015. PMID: 26316623 Free article.

4

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.

5

Anti-glycoprotein VI mediated immune thrombocytopenia: An under-recognized and significant entity?

Rabbolini DJ, Gardiner EE, Morel-Kopp MC, Dunkley S, Jahangiri A, Lee CS, Stevenson WS, Ward CM. Rabbolini DJ, et al. Res Pract Thromb Haemost. 2017 Aug 24;1(2):291-295. doi: 10.1002/rth2.12033. eCollection 2017 Oct. Res Pract Thromb Haemost. 2017. PMID: 30046699 Free PMC article.

6

An integrated approach to inherited platelet disorders: results from a research collaborative, the Sydney Platelet Group.

Rabbolini D, Connor D, Morel-Kopp MC, Donikian D, Kondo M, Chen W, Alessi MC, Stevenson W, Chen V, Joseph J, Brighton T, Ward C; Sydney Platelet Group. Rabbolini D, et al. Pathology. 2020 Feb;52(2):243-255. doi: 10.1016/j.pathol.2019.10.005. Epub 2020 Jan 10. Pathology. 2020. PMID: 31932033

7

The clinical heterogeneity of RUNX1 associated familial platelet disorder with predisposition to myeloid malignancy - A case series and review of the literature.

Tang C, Rabbolini DJ, Morel-Kopp MC, Connor DE, Crispin P, Ward CM, Stevenson WS. Tang C, et al. Res Pract Thromb Haemost. 2019 Dec 13;4(1):106-110. doi: 10.1002/rth2.12282. eCollection 2020 Jan. Res Pract Thromb Haemost. 2019. PMID: 31989091 Free PMC article.

8

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: morel kopp mc. Platelets. 2022 Apr 3;33(3):432-442. doi: 10.1080/09537104.2021.1937593. Epub 2021 Jul 5. Platelets. 2022. PMID: 34223798

9

A pilot study assessing the implementation of 96-well plate-based aggregometry (Optimul) in Australia.

Hsu H, Chan MV, Armstrong PC, Crescente M, Donikian D, Kondo M, Brighton T, Chen V, Chen Q, Connor D, Joseph J, Morel-Kopp MC, Stevenson WS, Ward C, Warner TD, Rabbolini DJ. Hsu H, et al. Among authors: morel kopp mc. Pathology. 2022 Oct;54(6):746-754. doi: 10.1016/j.pathol.2022.03.012. Epub 2022 Jun 21. Pathology. 2022. PMID: 35750510

10

Heterozygous loss of platelet glycoprotein (GP) Ib-V-IX variably affects platelet function in velocardiofacial syndrome (VCFS) patients.

Liang HP, Morel-Kopp MC, Curtin J, Wilson M, Hewson J, Chen W, Ward CM. Liang HP, et al. Thromb Haemost. 2007 Dec;98(6):1298-308. Thromb Haemost. 2007. PMID: 18064328

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