Jamieson RV - Search Results

1

A founder variant expands the phenotype of WNT7B-related PDAC syndrome.

AlAbdi L, Rahbeeni Z, Maddirevula S, Helaby R, Abdulwahab F, Khan AO, Riley LG, Alhashem A, Chassaing N, Jamieson RV, Alkuraya FS. AlAbdi L, et al. Among authors: jamieson rv. Clin Genet. 2024 Jul;106(1):66-71. doi: 10.1111/cge.14512. Epub 2024 Feb 28. Clin Genet. 2024. PMID: 38417950

2

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

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: jamieson rv. Clin Genet. 2018 Jan;93(1):155-159. doi: 10.1111/cge.13045. Epub 2017 Sep 8. Clin Genet. 2018. PMID: 28455998

4

Human iPSC-Derived Retinal Organoids and Retinal Pigment Epithelium for Novel Intronic RPGR Variant Assessment for Therapy Suitability.

Chahine Karam F, Loi TH, Ma A, Nash BM, Grigg JR, Parekh D, Riley LG, Farnsworth E, Bennetts B, Gonzalez-Cordero A, Jamieson RV. Chahine Karam F, et al. Among authors: jamieson rv. J Pers Med. 2022 Mar 21;12(3):502. doi: 10.3390/jpm12030502. J Pers Med. 2022. PMID: 35330501 Free PMC article.

5

Bi-allelic variants in WNT7B disrupt the development of multiple organs in humans.

Bouasker S, Patel N, Greenlees R, Wellesley D, Fares Taie L, Almontashiri NA, Baptista J, Alghamdi MA, Boissel S, Martinovic J, Prokudin I, Holden S, Mudhar HS, Riley LG, Nassif C, Attie-Bitach T, Miguet M, Delous M, Ernest S, Plaisancié J, Calvas P, Rozet JM, Khan AO, Hamdan FF, Jamieson RV, Alkuraya FS, Michaud JL, Chassaing N. Bouasker S, et al. Among authors: jamieson rv. J Med Genet. 2023 Mar;60(3):294-300. doi: 10.1136/jmedgenet-2022-108475. Epub 2022 Jul 5. J Med Genet. 2023. PMID: 35790350

6

Deletion at 14q22-23 indicates a contiguous gene syndrome comprising anophthalmia, pituitary hypoplasia, and ear anomalies.

Nolen LD, Amor D, Haywood A, St Heaps L, Willcock C, Mihelec M, Tam P, Billson F, Grigg J, Peters G, Jamieson RV. Nolen LD, et al. Among authors: jamieson rv. Am J Med Genet A. 2006 Aug 15;140(16):1711-8. doi: 10.1002/ajmg.a.31335. Am J Med Genet A. 2006. PMID: 16835935

7

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: jamieson rv. 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.

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

Investigation of clinically relevant germline variants detected by next-generation sequencing in patients with childhood cancer: a review of the literature.

Sylvester DE, Chen Y, Jamieson RV, Dalla-Pozza L, Byrne JA. Sylvester DE, et al. Among authors: jamieson rv. J Med Genet. 2018 Dec;55(12):785-793. doi: 10.1136/jmedgenet-2018-105488. Epub 2018 Oct 4. J Med Genet. 2018. PMID: 30287599 Review.

10

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. Among authors: jamieson rv. 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.

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