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List of works by Jennifer A Thompson

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

scientific article published on 15 September 2020

Clinical Evidence for the Importance of the Wild-Type PRPF31 Allele in the Phenotypic Expression of RP11

scientific article published in 2021

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

scientific article published on 16 November 2018

Generation of two induced pluripotent stem cell lines from a patient with compound heterozygous mutations in the USH2A gene

scientific article published on 16 March 2019

Phenotype-genotype correlations in a pseudodominant Stargardt disease pedigree due to a novel ABCA4 deletion-insertion variant causing a splicing defect

scientific article published on 23 April 2020

The genetic profile of Leber congenital amaurosis in an Australian cohort

scientific article published on 22 August 2017

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