Flaherty M - Search Results

1

Chromosomal rearrangements and novel genes in disorders of eye development, cataract and glaucoma.

Mihelec M, St Heaps L, Flaherty M, Billson F, Rudduck C, Tam PP, Grigg JR, Peters GB, Jamieson RV. Mihelec M, et al. Among authors: flaherty m. Twin Res Hum Genet. 2008 Aug;11(4):412-21. doi: 10.1375/twin.11.4.412. Twin Res Hum Genet. 2008. PMID: 18637741 Review.

2

Novel SOX2 partner-factor domain mutation in a four-generation family.

Mihelec M, Abraham P, Gibson K, Krowka R, Susman R, Storen R, Chen Y, Donald J, Tam PP, Grigg JR, Flaherty M, Gole GA, Jamieson RV. Mihelec M, et al. Among authors: flaherty m. Eur J Hum Genet. 2009 Nov;17(11):1417-22. doi: 10.1038/ejhg.2009.79. Epub 2009 May 27. Eur J Hum Genet. 2009. PMID: 19471311 Free PMC article.

3

New mutations in GJA8 expand the phenotype to include total sclerocornea.

Ma AS, Grigg JR, Prokudin I, Flaherty M, Bennetts B, Jamieson RV. Ma AS, et al. Among authors: flaherty m. Clin Genet. 2018 Jan;93(1):155-159. doi: 10.1111/cge.13045. Epub 2017 Sep 8. Clin Genet. 2018. PMID: 28455998

4

Microphthalmia, anophthalmia, and coloboma and associated ocular and systemic features: understanding the spectrum.

Skalicky SE, White AJ, Grigg JR, Martin F, Smith J, Jones M, Donaldson C, Smith JE, Flaherty M, Jamieson RV. Skalicky SE, et al. Among authors: flaherty m. JAMA Ophthalmol. 2013 Dec;131(12):1517-24. doi: 10.1001/jamaophthalmol.2013.5305. JAMA Ophthalmol. 2013. PMID: 24177921

5

Exome sequencing in developmental eye disease leads to identification of causal variants in GJA8, CRYGC, PAX6 and CYP1B1.

Prokudin I, Simons C, Grigg JR, Storen R, Kumar V, Phua ZY, Smith J, Flaherty M, Davila S, Jamieson RV. Prokudin I, et al. Among authors: flaherty m. Eur J Hum Genet. 2014 Jul;22(7):907-15. doi: 10.1038/ejhg.2013.268. Epub 2013 Nov 27. Eur J Hum Genet. 2014. PMID: 24281366 Free PMC article. Clinical Trial.

6

Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing.

Ma AS, Grigg JR, Ho G, Prokudin I, Farnsworth E, Holman K, Cheng A, Billson FA, Martin F, Fraser C, Mowat D, Smith J, Christodoulou J, Flaherty M, Bennetts B, Jamieson RV. Ma AS, et al. Among authors: flaherty m. Hum Mutat. 2016 Apr;37(4):371-84. doi: 10.1002/humu.22948. Epub 2016 Jan 14. Hum Mutat. 2016. PMID: 26694549 Free PMC article.

7

Revealing hidden genetic diagnoses in the ocular anterior segment disorders.

Ma A, Yousoof S, Grigg JR, Flaherty M, Minoche AE, Cowley MJ, Nash BM, Ho G, Gayagay T, Lai T, Farnsworth E, Hackett EL, Fisk K, Wong K, Holman KJ, Jenkins G, Cheng A, Martin F, Karaconji T, Elder JE, Enriquez A, Wilson M, Amor DJ, Stutterd CA, Kamien B, Nelson J, Dinger ME, Bennetts B, Jamieson RV. Ma A, et al. Among authors: flaherty m. Genet Med. 2020 Oct;22(10):1623-1632. doi: 10.1038/s41436-020-0854-x. Epub 2020 Jun 5. Genet Med. 2020. PMID: 32499604 Free PMC article.

8

Genome sequencing in congenital cataracts improves diagnostic yield.

Ma A, Grigg JR, Flaherty M, Smith J, Minoche AE, Cowley MJ, Nash BM, Ho G, Gayagay T, Lai T, Farnsworth E, Hackett EL, Slater K, Wong K, Holman KJ, Jenkins G, Cheng A, Martin F, Brown NJ, Leighton SE, Amor DJ, Goel H, Dinger ME, Bennetts B, Jamieson RV. Ma A, et al. Among authors: flaherty m. Hum Mutat. 2021 Sep;42(9):1173-1183. doi: 10.1002/humu.24240. Epub 2021 Jun 15. Hum Mutat. 2021. PMID: 34101287

9

A case of neurofibromatosis type 1 and unilateral glaucoma with ectropion uveae.

Thananjeyan AL, Karaconji T, Flaherty M, Zagora S, Jamieson RV, Grigg JRB. Thananjeyan AL, et al. Among authors: flaherty m. Ophthalmic Genet. 2022 Oct;43(5):709-712. doi: 10.1080/13816810.2022.2089362. Epub 2022 Jun 20. Ophthalmic Genet. 2022. PMID: 35722677 No abstract available.

10

Congenital fibrosis of the extraocular muscles type 1, distinctive conjunctival changes and intrapapillary disc colobomata.

Flaherty MP, Balachandran C, Jamieson R, Engle EC. Flaherty MP, et al. Ophthalmic Genet. 2009 Jun;30(2):91-5. doi: 10.1080/13816810802697473. Ophthalmic Genet. 2009. PMID: 19373680 Free PMC article.

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