Publications:

Phenotype-Based Genetic Analysis Reveals Missing Heritability of ABCA4-Related Retinopathy: Deep Intronic Variants and Copy Number Variations.

Investigative Ophthalmology & Visual Science

Tian, Lu L; Chen, Chunjie C; Song, Yuning Y; Zhang, Xiaohui X; Xu, Ke K; Xie, Yue Y; Jin, Zi-Bing ZB; Li, Yang Y

Publication Date: 2022-06-01

Variant appearance in text: STGD: 3065A>G

PubMed Link: 35657619

Variant Present in the following documents:

• iovs-63-6-5_s002.xlsx, sheet 1
• iovs-63-6-5_s002.xlsx, sheet 2

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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: 3065A>G; E1022G

PubMed Link: 33505770

Variant Present in the following documents:

• tvst-10-1-3_s002.pdf

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A novel statistical method for interpreting the pathogenicity of rare variants.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Wang, Jun J; Liu, Hehe H; Bertrand, Renae Elaine RE; Sarrion-Perdigones, Alejandro A; Gonzalez, Yezabel Y; Venken, Koen J T KJT; Chen, Rui R

Publication Date: 2021-01

Variant appearance in text: ABCA4: E1022G

PubMed Link: 32884132

Variant Present in the following documents:

• NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 6

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Optical Gap Biomarker in Cone-Dominant Retinal Dystrophy.

American Journal Of Ophthalmology

Oh, Jin Kyun JK; Ryu, Joseph J; Lima de Carvalho, Jose Ronaldo JR; Levi, Sarah R SR; Lee, Winston W; Tsamis, Emmanouil E; Greenstein, Vivienne C VC; Mahajan, Vinit B VB; Allikmets, Rando R; Tsang, Stephen H SH

Publication Date: 2020-10

Variant appearance in text: ABCA4: 3065A>G

PubMed Link: 32445700

Variant Present in the following documents:

• Main text

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Progressive Choriocapillaris Impairment in ABCA4 Maculopathy Is Secondary to Retinal Pigment Epithelium Atrophy.

Investigative Ophthalmology & Visual Science

Jauregui, Ruben R; Cho, Ahra A; Lee, Winston W; Zernant, Jana J; Allikmets, Rando R; Sparrow, Janet R JR; Tsang, Stephen H SH

Publication Date: 2020-04-09

Variant appearance in text: ABCA4: 3065A>G; E1022G

PubMed Link: 32298433

Variant Present in the following documents:

• iovs-61-4-13_s001.pdf

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