Green JS - Search Results

1

The genetic architecture of Stargardt macular dystrophy (STGD1): a longitudinal 40-year study in a genetic isolate.

Green JS, O'Rielly DD, Pater JA, Houston J, Rajabi H, Galutira D, Benteau T, Sheaves A, Abdelfatah N, Bautista D, Whelan J, Young TL. Green JS, et al. Eur J Hum Genet. 2020 Jul;28(7):925-937. doi: 10.1038/s41431-020-0581-4. Epub 2020 May 28. Eur J Hum Genet. 2020. PMID: 32467599 Free PMC article.

2

A novel, non-stop mutation in FOXE3 causes an autosomal dominant form of variable anterior segment dysgenesis including Peters anomaly.

Doucette L, Green J, Fernandez B, Johnson GJ, Parfrey P, Young TL. Doucette L, et al. Eur J Hum Genet. 2011 Mar;19(3):293-9. doi: 10.1038/ejhg.2010.210. Epub 2010 Dec 8. Eur J Hum Genet. 2011. PMID: 21150893 Free PMC article.

3

Molecular genetics of achromatopsia in Newfoundland reveal genetic heterogeneity, founder effects and the first cases of Jalili syndrome in North America.

Doucette L, Green J, Black C, Schwartzentruber J, Johnson GJ, Galutira D, Young TL. Doucette L, et al. Ophthalmic Genet. 2013 Sep;34(3):119-29. doi: 10.3109/13816810.2013.763993. Epub 2013 Jan 30. Ophthalmic Genet. 2013. PMID: 23362848

4

Novel Usher syndrome pathogenic variants identified in cases with hearing and vision loss.

Pater JA, Green J, O'Rielly DD, Griffin A, Squires J, Burt T, Fernandez S, Fernandez B, Houston J, Zhou J, Roslin NM, Young TL. Pater JA, et al. BMC Med Genet. 2019 May 2;20(1):68. doi: 10.1186/s12881-019-0777-z. BMC Med Genet. 2019. PMID: 31046701 Free PMC article.

5

A dominant RAD51C pathogenic splicing variant predisposes to breast and ovarian cancer in the Newfoundland population due to founder effect.

Dawson LM, Smith KN, Werdyani S, Ndikumana R, Penney C, Wiede LL, Smith KL, Pater JA, MacMillan A, Green J, Drover S, Young TL, O'Rielly DD. Dawson LM, et al. Mol Genet Genomic Med. 2020 Feb;8(2):e1070. doi: 10.1002/mgg3.1070. Epub 2019 Nov 28. Mol Genet Genomic Med. 2020. PMID: 31782267 Free PMC article.

6

Profound, prelingual nonsyndromic deafness maps to chromosome 10q21 and is caused by a novel missense mutation in the Usher syndrome type IF gene PCDH15.

Doucette L, Merner ND, Cooke S, Ives E, Galutira D, Walsh V, Walsh T, MacLaren L, Cater T, Fernandez B, Green JS, Wilcox ER, Shotland LI, Li XC, Lee M, King MC, Young TL. Doucette L, et al. Among authors: green js. Eur J Hum Genet. 2009 May;17(5):554-64. doi: 10.1038/ejhg.2008.231. Epub 2008 Dec 24. Eur J Hum Genet. 2009. PMID: 19107147 Free PMC article.

7

A founder effect in the newfoundland population reduces the Bardet-Biedl syndrome I (BBS1) interval to 1 cM.

Young TL, Woods MO, Parfrey PS, Green JS, Hefferton D, Davidson WS. Young TL, et al. Among authors: green js. Am J Hum Genet. 1999 Dec;65(6):1680-7. doi: 10.1086/302686. Am J Hum Genet. 1999. PMID: 10577922 Free PMC article.

8

Genetic heterogeneity of Bardet-Biedl syndrome in a distinct Canadian population: evidence for a fifth locus.

Woods MO, Young TL, Parfrey PS, Hefferton D, Green JS, Davidson WS. Woods MO, et al. Among authors: green js. Genomics. 1999 Jan 1;55(1):2-9. doi: 10.1006/geno.1998.5626. Genomics. 1999. PMID: 9888993

9

Genetic structure of the Newfoundland and Labrador population: founder effects modulate variability.

Zhai G, Zhou J, Woods MO, Green JS, Parfrey P, Rahman P, Green RC. Zhai G, et al. Among authors: green rc, green js. Eur J Hum Genet. 2016 Jul;24(7):1063-70. doi: 10.1038/ejhg.2015.256. Epub 2015 Dec 16. Eur J Hum Genet. 2016. PMID: 26669659 Free PMC article.

10

Canadian Bardet-Biedl syndrome family reduces the critical region of BBS3 (3p) and presents with a variable phenotype.

Young TL, Woods MO, Parfrey PS, Green JS, O'Leary E, Hefferton D, Davidson WS. Young TL, et al. Among authors: green js. Am J Med Genet. 1998 Aug 6;78(5):461-7. doi: 10.1002/(sici)1096-8628(19980806)78:5<461::aid-ajmg12>3.0.co;2-d. Am J Med Genet. 1998. PMID: 9714014

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