Jennifer A Thompson

ORCID

Publication Activity (10 Years)

Years Active: 2017-2021
Publications (10 Years): 8

Top Venues

Molecular genetics & genomic medicine

Documenta ophthalmologica. Advances in ophthalmology

Genes

Sir Charles Gairdner Hospital

Edith Cowan University (PHD)

This page only lists publications with an associated author ORCID identifier.

Affiliation History

Sir Charles Gairdner Hospital

Australia

Research Scientist :: Department of Medical Technology and Physics

Education History

Edith Cowan University

Australia

PHD :: School of Exercise, Biomedial and Health Sciences

Publications

Rachael C Heath Jeffery, Jennifer A Thompson, Johnny Lo, Tina M Lamey, Terri L McLaren, Ian L McAllister, Ian J Constable, John N De Roach, Fred K Chen
Genotype-Specific Lesion Growth Rates in Stargardt Disease. Genes 12 (12) (2021)
Juanita Pappalardo, Rachael C Heath Jeffery, Jennifer A Thompson, Enid Chelva, Quang Pham, Ian J Constable, Terri L McLaren, Tina M Lamey, John N De Roach, Fred K Chen
A novel phenotype in a family with autosomal dominant retinal dystrophy due to c.1430A > G in retinoid isomerohydrolase (RPE65) and c.37C > T in bestrophin 1 (BEST1). Documenta ophthalmologica. Advances in ophthalmology 143 (1) (2021)
Danial Roshandel, Jennifer A Thompson, Rachael C Heath Jeffery, Dan Zhang, Tina M Lamey, Terri L McLaren, John N De Roach, Samuel McLenachan, David A Mackey, Fred K Chen
Clinical Evidence for the Importance of the Wild-Type PRPF31 Allele in the Phenotypic Expression of RP11. Genes 12 (6) (2021)
Xiao Zhang, Dan Zhang, Jennifer A Thompson, Shang-Chih Chen, Zhiqin Huang, Luke Jennings, Terri L McLaren, Tina M Lamey, John N De Roach, Fred K Chen, Samuel McLenachan
Gene correction of the CLN3 c.175G>A variant in patient-derived induced pluripotent stem cells prevents pathological changes in retinal organoids. Molecular genetics & genomic medicine 9 (3) (2021)
Di Huang, Jennifer A Thompson, Jason Charng, Enid Chelva, Samuel McLenachan, Shang-Chih Chen, Dan Zhang, Terri L McLaren, Tina M Lamey, Ian J Constable, John N De Roach, May Thandar Aung-Htut, Abbie Adams, Susan Fletcher, Steve D Wilton, Fred K Chen
Phenotype-genotype correlations in a pseudodominant Stargardt disease pedigree due to a novel ABCA4 deletion-insertion variant causing a splicing defect. Molecular genetics & genomic medicine 8 (7) (2020)
Xiao Zhang, Jennifer A Thompson, Dan Zhang, Jason Charng, Sukanya Arunachalam, Terri L McLaren, Tina M Lamey, John N De Roach, Luke Jennings, Samuel McLenachan, Fred K Chen
Characterization of CRB1 splicing in retinal organoids derived from a patient with adult-onset rod-cone dystrophy caused by the c.1892A>G and c.2548G>A variants. Molecular genetics & genomic medicine 8 (11) (2020)
Fred K Chen, Xiao Zhang, Jonathan Eintracht, Dan Zhang, Sukanya Arunachalam, Jennifer A Thompson, Enid Chelva, Dominic Mallon, Shang-Chih Chen, Terri McLaren, Tina Lamey, John De Roach, Samuel McLenachan
Clinical and molecular characterization of non-syndromic retinal dystrophy due to c.175G>A mutation in ceroid lipofuscinosis neuronal 3 (CLN3). Documenta ophthalmologica. Advances in ophthalmology 138 (1) (2018)
Jennifer A Thompson, John N De Roach, Terri L McLaren, Hannah E Montgomery, Ling H Hoffmann, Isabella R Campbell, Fred K Chen, David A Mackey, Tina M Lamey
The genetic profile of Leber congenital amaurosis in an Australian cohort. Molecular genetics & genomic medicine 5 (6) (2017)

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Publication Activity (10 Years)

Top Topics

Top Venues

Jennifer A Thompson