Publications:

Retinal Pigment Epithelium Atrophy in Recessive Stargardt Disease as Measured by Short-Wavelength and Near-Infrared Autofluorescence.

Translational Vision Science & Technology

Jauregui, Ruben R; Nuzbrokh, Yan Y; Su, Pei-Yin PY; Zernant, Jana J; Allikmets, Rando R; Tsang, Stephen H SH; Sparrow, Janet R JR

Publication Date: 2021-01

Variant appearance in text: ABCA4: 5243G>A; G1748E

PubMed Link: 33505770

Variant Present in the following documents:

• tvst-10-1-3_s002.pdf

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Mutations in GPR143/OA1 and ABCA4 Inform Interpretations of Short-Wavelength and Near-Infrared Fundus Autofluorescence.

Investigative Ophthalmology & Visual Science

Paavo, Maarjaliis M; Zhao, Jin J; Kim, Hye Jin HJ; Lee, Winston W; Zernant, Jana J; Cai, Carolyn C; Allikmets, Rando R; Tsang, Stephen H SH; Sparrow, Janet R JR

Publication Date: 2018-05-01

Variant appearance in text: STGD1: G1748E

PubMed Link: 29847651

Variant Present in the following documents:

• i1552-5783-59-6-2459.pdf

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Genotypic spectrum and phenotype correlations of ABCA4-associated disease in patients of south Asian descent.

European Journal Of Human Genetics : Ejhg

Lee, Winston W; Schuerch, Kaspar K; Zernant, Jana J; Collison, Frederick T FT; Bearelly, Srilaxmi S; Fishman, Gerald A GA; Tsang, Stephen H SH; Sparrow, Janet R JR; Allikmets, Rando R

Publication Date: 2017-06

Variant appearance in text: ABCA4: 5243G>A; G1748E

PubMed Link: 28327576

Variant Present in the following documents:

• Main text

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