Jamieson RV - Search Results

1

Identification of missense MAB21L1 variants in microphthalmia and aniridia.

Seese SE, Reis LM, Deml B, Griffith C, Reich A, Jamieson RV, Semina EV. Seese SE, et al. Among authors: jamieson rv. Hum Mutat. 2021 Jul;42(7):877-890. doi: 10.1002/humu.24218. Epub 2021 May 24. Hum Mutat. 2021. PMID: 33973683 Free PMC article.

2

Mutations in SIPA1L3 cause eye defects through disruption of cell polarity and cytoskeleton organization.

Greenlees R, Mihelec M, Yousoof S, Speidel D, Wu SK, Rinkwitz S, Prokudin I, Perveen R, Cheng A, Ma A, Nash B, Gillespie R, Loebel DA, Clayton-Smith J, Lloyd IC, Grigg JR, Tam PP, Yap AS, Becker TS, Black GC, Semina E, Jamieson RV. Greenlees R, et al. Among authors: jamieson rv. Hum Mol Genet. 2015 Oct 15;24(20):5789-804. doi: 10.1093/hmg/ddv298. Epub 2015 Jul 30. Hum Mol Genet. 2015. PMID: 26231217

3

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: jamieson rv. 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.

4

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: jamieson rv. Hum Mutat. 2021 Sep;42(9):1173-1183. doi: 10.1002/humu.24240. Epub 2021 Jun 15. Hum Mutat. 2021. PMID: 34101287

5

A puzzle over several decades: eye anomalies with FRAS1 and STRA6 mutations in the same family.

Ng WY, Pasutto F, Bardakjian TM, Wilson MJ, Watson G, Schneider A, Mackey DA, Grigg JR, Zenker M, Jamieson RV. Ng WY, et al. Among authors: jamieson rv. Clin Genet. 2013 Feb;83(2):162-8. doi: 10.1111/j.1399-0004.2012.01851.x. Epub 2012 Feb 20. Clin Genet. 2013. PMID: 22283518

6

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: jamieson rv. JAMA Ophthalmol. 2013 Dec;131(12):1517-24. doi: 10.1001/jamaophthalmol.2013.5305. JAMA Ophthalmol. 2013. PMID: 24177921

7

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: jamieson rv. 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.

8

Phenotype-genotype correlations and emerging pathways in ocular anterior segment dysgenesis.

Ma AS, Grigg JR, Jamieson RV. Ma AS, et al. Among authors: jamieson rv. Hum Genet. 2019 Sep;138(8-9):899-915. doi: 10.1007/s00439-018-1935-7. Epub 2018 Sep 21. Hum Genet. 2019. PMID: 30242500 Review.

9

Characterization of a familial t(16;22) balanced translocation associated with congenital cataract leads to identification of a novel gene, TMEM114, expressed in the lens and disrupted by the translocation.

Jamieson RV, Farrar N, Stewart K, Perveen R, Mihelec M, Carette M, Grigg JR, McAvoy JW, Lovicu FJ, Tam PP, Scambler P, Lloyd IC, Donnai D, Black GC. Jamieson RV, et al. Hum Mutat. 2007 Oct;28(10):968-77. doi: 10.1002/humu.20545. Hum Mutat. 2007. PMID: 17492639

10

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: jamieson rv. 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.

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