Nash B - Search Results

1

SNP chromosome microarray genotyping for detection of uniparental disomy in the clinical diagnostic laboratory.

Ngo C, Baluyot M, Bennetts B, Carmichael J, Clark A, Darmanian A, Gayagay T, Jones L, Nash B, Clark M, Jose N, Robinson S, St Heaps L, Wright D. Ngo C, et al. Among authors: nash b. Pathology. 2023 Oct;55(6):818-826. doi: 10.1016/j.pathol.2023.04.004. Epub 2023 Jun 16. Pathology. 2023. PMID: 37414616

2

Perspectives of people with inherited retinal diseases on ocular gene therapy in Australia: protocol for a national survey.

Mack HG, Chen FK, Grigg J, Jamieson R, De Roach J, O'Hare F, Britten-Jones AC, McGuinness M, Tindill N, Ayton L; Australian Ocular Gene Therapy Group. Mack HG, et al. BMJ Open. 2021 Jun 22;11(6):e048361. doi: 10.1136/bmjopen-2020-048361. BMJ Open. 2021. PMID: 34158306 Free PMC article.

3

Retinal dystrophies, genomic applications in diagnosis and prospects for therapy.

Nash BM, Wright DC, Grigg JR, Bennetts B, Jamieson RV. Nash BM, et al. Transl Pediatr. 2015 Apr;4(2):139-63. doi: 10.3978/j.issn.2224-4336.2015.04.03. Transl Pediatr. 2015. PMID: 26835369 Free PMC article. Review.

4

Molecular genetic studies of complete hydatidiform moles.

Carey L, Nash BM, Wright DC. Carey L, et al. Transl Pediatr. 2015 Apr;4(2):181-8. doi: 10.3978/j.issn.2224-4336.2015.04.02. Transl Pediatr. 2015. PMID: 26835372 Free PMC article. Review.

5

Validation of a Chromosomal Microarray for Prenatal Diagnosis Using a Prospective Cohort of Pregnancies with Increased Risk for Chromosome Abnormalities.

Wright D, Carey L, Battersby S, Nguyen T, Clarke M, Nash B, Gulesserian E, Cross J, Darmanian A. Wright D, et al. Among authors: nash b. Genet Test Mol Biomarkers. 2016 Dec;20(12):791-798. doi: 10.1089/gtmb.2016.0117. Epub 2016 Sep 30. Genet Test Mol Biomarkers. 2016. PMID: 27690282

6

NMNAT1 variants cause cone and cone-rod dystrophy.

Nash BM, Symes R, Goel H, Dinger ME, Bennetts B, Grigg JR, Jamieson RV. Nash BM, et al. Eur J Hum Genet. 2018 Mar;26(3):428-433. doi: 10.1038/s41431-017-0029-7. Epub 2017 Nov 28. Eur J Hum Genet. 2018. PMID: 29184169 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: nash bm. 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

Heterozygous COL9A3 variants cause severe peripheral vitreoretinal degeneration and retinal detachment.

Nash BM, Watson CJG, Hughes E, Hou AL, Loi TH, Bennetts B, Jelovic D, Polkinghorne PJ, Gorbatov M, Grigg JR, Vincent AL, Jamieson RV. Nash BM, et al. Eur J Hum Genet. 2021 May;29(5):881-886. doi: 10.1038/s41431-021-00820-1. Epub 2021 Feb 25. Eur J Hum Genet. 2021. PMID: 33633367 Free PMC article.

9

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

10

Evaluation for Retinal Therapy for RPE65 Variation Assessed in hiPSC Retinal Pigment Epithelial Cells.

Nash BM, Loi TH, Fernando M, Sabri A, Robinson J, Cheng A, Eamegdool SS, Farnsworth E, Bennetts B, Grigg JR, Chung SK, Gonzalez-Cordero A, Jamieson RV. Nash BM, et al. Stem Cells Int. 2021 Dec 13;2021:4536382. doi: 10.1155/2021/4536382. eCollection 2021. Stem Cells Int. 2021. PMID: 34938339 Free PMC article.

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