Publications:

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Phenotyping of ABCA4 Retinopathy by Machine Learning Analysis of Full-Field Electroretinography.

Translational Vision Science & Technology

Glinton, Sophie L SL; Calcagni, Antonio A; Lilaonitkul, Watjana W; Pontikos, Nikolas N; Vermeirsch, Sandra S; Zhang, Gongyu G; Arno, Gavin G; Wagner, Siegfried K SK; Michaelides, Michel M; Keane, Pearse A PA; Webster, Andrew R AR; Mahroo, Omar A OA; Robson, Anthony G AG

Publication Date: 2022-09-01

Variant appearance in text: ABCA4: 2160+1G>C

PubMed Link: 36178783

Variant Present in the following documents:

• tvst-11-9-34_s002.pdf

View BVdb publication page

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A genotype-phenotype correlation matrix for ABCA4 disease based on long-term prognostic outcomes.

Jci Insight

Lee, Winston W; Zernant, Jana J; Su, Pei-Yin PY; Nagasaki, Takayuki T; Tsang, Stephen H SH; Allikmets, Rando R

Publication Date: 2022-01-25

Variant appearance in text: ABCA4: 2160+1G>C

PubMed Link: 34874912

Variant Present in the following documents:

• jciinsight-7-156154-s174.xlsx, sheet 1
• jciinsight-7-156154.pdf

View BVdb publication page

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The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders.

Npj Genomic Medicine

Xiao, Qingyang Q; Lauschke, Volker M VM

Publication Date: 2021-06-02

Variant appearance in text: ABCA4: 2160+1G>C; rs61749427

PubMed Link: 34078906

Variant Present in the following documents:

• 41525_2021_203_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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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: 2160+1G>C

PubMed Link: 32884132

Variant Present in the following documents:

• NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 6

View BVdb publication page

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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: 2160+1G>C

PubMed Link: 32298433

Variant Present in the following documents:

• iovs-61-4-13_s001.pdf

View BVdb publication page

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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: 2160+1G>C

PubMed Link: 30055151

Variant Present in the following documents:

• Main text

View BVdb publication page

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The Rapid-Onset Chorioretinopathy Phenotype of ABCA4 Disease.

Ophthalmology

Tanaka, Koji K; Lee, Winston W; Zernant, Jana J; Schuerch, Kaspar K; Ciccone, Lyam L; Tsang, Stephen H SH; Sparrow, Janet R JR; Allikmets, Rando R

Publication Date: 2018-01

Variant appearance in text: ABCA4: 2160+1G>C

PubMed Link: 28947085

Variant Present in the following documents:

• Main text

View BVdb publication page

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Correlating Photoreceptor Mosaic Structure to Clinical Findings in Stargardt Disease.

Translational Vision Science & Technology

Razeen, Moataz M MM; Cooper, Robert F RF; Langlo, Christopher S CS; Goldberg, Mara R MR; Wilk, Melissa A MA; Han, Dennis P DP; Connor, Thomas B TB; Fishman, Gerald A GA; Collison, Frederick T FT; Sulai, Yusufu N YN; Dubra, Alfredo A; Carroll, Joseph J; Stepien, Kimberly E KE

Publication Date: 2016-03

Variant appearance in text: STGD: 2160+1G>C

PubMed Link: 26981328

Variant Present in the following documents:

• Main text

View BVdb publication page

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Autosomal recessive retinitis pigmentosa due to ABCA4 mutations: clinical, pathologic, and molecular characterization.

Investigative Ophthalmology & Visual Science

Mullins, Robert F RF; Kuehn, Markus H MH; Radu, Roxana A RA; Enriquez, G Stephanie GS; East, Jade S JS; Schindler, Emily I EI; Travis, Gabriel H GH; Stone, Edwin M EM

Publication Date: 2012-04-18

Variant appearance in text: ABCA4: 2160+1G>C

PubMed Link: 22395892

Variant Present in the following documents:

• Main text

View BVdb publication page

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