Thompson JA - Search Results

1

Deep clinical phenotyping and gene expression analysis in a patient with RCBTB1-associated retinopathy.

Huang Z, Zhang D, Thompson JA, Jamuar SS, Roshandel D, Jennings L, Mellough C, Charng J, Chen SC, McLaren TL, Lamey TM, Chelva E, De Roach JN, Chan CM, McLenachan S, Chen FK. Huang Z, et al. Among authors: thompson ja. Ophthalmic Genet. 2021 Jun;42(3):266-275. doi: 10.1080/13816810.2021.1891551. Epub 2021 Feb 24. Ophthalmic Genet. 2021. PMID: 33624564

2

Progress and prospects of next-generation sequencing testing for inherited retinal dystrophy.

Chiang JP, Lamey T, McLaren T, Thompson JA, Montgomery H, De Roach J. Chiang JP, et al. Among authors: thompson ja. Expert Rev Mol Diagn. 2015;15(10):1269-75. doi: 10.1586/14737159.2015.1081057. Epub 2015 Aug 26. Expert Rev Mol Diagn. 2015. PMID: 26394700 Free PMC article. Review.

3

A computer-assisted method for pathogenicity assessment and genetic reporting of variants stored in the Australian Inherited Retinal Disease Register.

Huynh E, De Roach J, McLaren T, Thompson J, Montgomery H, Kap C, Hoffmann L, Lamey T. Huynh E, et al. Australas Phys Eng Sci Med. 2016 Mar;39(1):239-45. doi: 10.1007/s13246-015-0420-z. Epub 2016 Jan 4. Australas Phys Eng Sci Med. 2016. PMID: 26728880

4

The genetic profile of Leber congenital amaurosis in an Australian cohort.

Thompson JA, De Roach JN, McLaren TL, Montgomery HE, Hoffmann LH, Campbell IR, Chen FK, Mackey DA, Lamey TM. Thompson JA, et al. Mol Genet Genomic Med. 2017 Nov;5(6):652-667. doi: 10.1002/mgg3.321. Epub 2017 Aug 22. Mol Genet Genomic Med. 2017. PMID: 29178642 Free PMC article.

5

Generation of an induced pluripotent stem cell line from a patient with non-syndromic CLN3-associated retinal degeneration and a coisogenic control line.

Zhang X, Zhang D, Chen SC, Lamey T, Thompson JA, McLaren T, De Roach JN, Chen FK, McLenachan S. Zhang X, et al. Among authors: thompson ja. Stem Cell Res. 2018 May;29:245-249. doi: 10.1016/j.scr.2018.04.014. Epub 2018 May 1. Stem Cell Res. 2018. PMID: 29753273 Free article.

6

Maternal uniparental isodisomy of chromosome 6 unmasks a novel variant in TULP1 in a patient with early onset retinal dystrophy.

Souzeau E, Thompson JA, McLaren TL, De Roach JN, Barnett CP, Lamey TM, Craig JE. Souzeau E, et al. Among authors: thompson ja. Mol Vis. 2018 Jul 21;24:478-484. eCollection 2018. Mol Vis. 2018. PMID: 30090012 Free PMC article.

7

Establishment of an induced pluripotent stem cell line from a retinitis pigmentosa patient with compound heterozygous CRB1 mutation.

Zhang X, Zhang D, Chen SC, Lamey T, Thompson JA, McLaren T, De Roach JN, Chen FK, McLenachan S. Zhang X, et al. Among authors: thompson ja. Stem Cell Res. 2018 Aug;31:147-151. doi: 10.1016/j.scr.2018.08.001. Epub 2018 Aug 2. Stem Cell Res. 2018. PMID: 30092450 Free article.

8

Development of High-Throughput Clinical Testing of RPGR ORF15 Using a Large Inherited Retinal Dystrophy Cohort.

Chiang JPW, Lamey TM, Wang NK, Duan J, Zhou W, McLaren TL, Thompson JA, Ruddle J, De Roach JN. Chiang JPW, et al. Among authors: thompson ja. Invest Ophthalmol Vis Sci. 2018 Sep 4;59(11):4434-4440. doi: 10.1167/iovs.18-24555. Invest Ophthalmol Vis Sci. 2018. PMID: 30193314

9

Clinical and molecular characterization of non-syndromic retinal dystrophy due to c.175G>A mutation in ceroid lipofuscinosis neuronal 3 (CLN3).

Chen FK, Zhang X, Eintracht J, Zhang D, Arunachalam S, Thompson JA, Chelva E, Mallon D, Chen SC, McLaren T, Lamey T, De Roach J, McLenachan S. Chen FK, et al. Among authors: thompson ja. Doc Ophthalmol. 2019 Feb;138(1):55-70. doi: 10.1007/s10633-018-9665-7. Epub 2018 Nov 16. Doc Ophthalmol. 2019. PMID: 30446867

10

Generation of two induced pluripotent stem cell lines from a patient with dominant PRPF31 mutation and a related non-penetrant carrier.

McLenachan S, Zhang D, Zhang X, Chen SC, Lamey T, Thompson JA, McLaren T, De Roach JN, Fletcher S, Chen FK. McLenachan S, et al. Among authors: thompson ja. Stem Cell Res. 2019 Jan;34:101357. doi: 10.1016/j.scr.2018.11.018. Epub 2018 Dec 10. Stem Cell Res. 2019. PMID: 30611018 Free article.

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