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: 6670del

PubMed Link: 33505770

Variant Present in the following documents:

• tvst-10-1-3_s002.pdf

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Deep Scleral Exposure: A Degenerative Outcome of End-Stage Stargardt Disease.

American Journal Of Ophthalmology

Lee, Winston W; Zernant, Jana J; Nagasaki, Takayuki T; Tsang, Stephen H SH; Allikmets, Rando R

Publication Date: 2018-11

Variant appearance in text: ABCA4: 6670del

PubMed Link: 30055151

Variant Present in the following documents:

• Main text

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Genes and genetics in eye diseases: a genomic medicine approach for investigating hereditary and inflammatory ocular disorders.

International Journal Of Ophthalmology

Singh, Mahavir M; Tyagi, Suresh C SC

Publication Date: 2018

Variant appearance in text: ABCA4: 6670del

PubMed Link: 29376001

Variant Present in the following documents:

• Main text

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A Comparison of En Face Optical Coherence Tomography and Fundus Autofluorescence in Stargardt Disease.

Investigative Ophthalmology & Visual Science

Greenstein, Vivienne C VC; Nunez, Jason J; Lee, Winston W; Schuerch, Kaspar K; Fortune, Brad B; Tsang, Stephen H SH; Allikmets, Rando R; Sparrow, Janet R JR; Hood, Donald C DC

Publication Date: 2017-10-01

Variant appearance in text: ABCA4: 6670del

PubMed Link: 29049723

Variant Present in the following documents:

• Main text
• i1552-5783-58-12-5227.pdf

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Complex inheritance of ABCA4 disease: four mutations in a family with multiple macular phenotypes.

Human Genetics

Lee, Winston W; Xie, Yajing Y; Zernant, Jana J; Yuan, Bo B; Bearelly, Srilaxmi S; Tsang, Stephen H SH; Lupski, James R JR; Allikmets, Rando R

Publication Date: 2016-01

Variant appearance in text: STGD1: 6670del

PubMed Link: 26527198

Variant Present in the following documents:

• Main text

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