Publications:

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Stargardt disease: monitoring incidence and diagnostic trends in the Netherlands using a nationwide disease registry.

Acta Ophthalmologica

Runhart, Esmee H EH; Dhooge, Patty P; Meester-Smoor, Magda M; Pas, Jeroen J; Pott, Jan Willem R JWR; van Leeuwen, Redmer R; Kroes, Hester Y HY; Bergen, Arthur A AA; de Jong-Hesse, Yvonne Y; Thiadens, Alberta A AA; van Schooneveld, Mary J MJ; van Genderen, Maria M; Boon, Camiel C; Klaver, Caroline C; van den Born, L Ingeborg LI; Cremers, Frans P M FPM; Hoyng, Carel B CB

Publication Date: 2022-06

Variant appearance in text: ABCA4: 5537T>C

PubMed Link: 34431609

Variant Present in the following documents:

• Main text
• AOS-100-395.pdf

View BVdb publication page

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Stargardt disease: Multimodal imaging: A review.

Clinical & Experimental Ophthalmology

Heath Jeffery, Rachael C RC; Chen, Fred K FK

Publication Date: 2021-07

Variant appearance in text: ABCA4: 5537T>C

PubMed Link: 34013643

Variant Present in the following documents:

• Main text
• CEO-49-498.pdf

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: I1846T

PubMed Link: 32884132

Variant Present in the following documents:

• NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 6

View BVdb publication page

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Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.

Plos One

Pritchard, Antonia L AL; Johansson, Peter A PA; Nathan, Vaishnavi V; Howlie, Madeleine M; Symmons, Judith J; Palmer, Jane M JM; Hayward, Nicholas K NK

Publication Date: 2018

Variant appearance in text: ABCA4: 5537T>C; Ile1846Thr; rs61750575

PubMed Link: 29641532

Variant Present in the following documents:

• pone.0194098.s003.xlsx, sheet 10

View BVdb publication page

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Full-field ERG as a predictor of the natural course of ABCA4-associated retinal degenerations.

Molecular Vision

Schroeder, Marion M; Kjellström, Ulrika U

Publication Date: 2018

Variant appearance in text: STGD: 5537T>C

PubMed Link: 29386879

Variant Present in the following documents:

• Main text
• mv-v24-1.pdf

View BVdb publication page

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Genetic variation in human drug-related genes.

Genome Medicine

Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS

Publication Date: 2017-12-22

Variant appearance in text: ABCA4: 5537T>C; rs61750575

PubMed Link: 29273096

Variant Present in the following documents:

• 13073_2017_502_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Highly sensitive measurements of disease progression in rare disorders: Developing and validating a multimodal model of retinal degeneration in Stargardt disease.

Plos One

Lambertus, Stanley S; Bax, Nathalie M NM; Fakin, Ana A; Groenewoud, Joannes M M JM; Klevering, B Jeroen BJ; Moore, Anthony T AT; Michaelides, Michel M; Webster, Andrew R AR; van der Wilt, Gert Jan GJ; Hoyng, Carel B CB

Publication Date: 2017

Variant appearance in text: ABCA4: 5537T>C

PubMed Link: 28355279

Variant Present in the following documents:

• Main text
• pone.0174020.pdf

View BVdb publication page

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: STGD1: I1846T

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: ABCA4: I1846T

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1

View BVdb publication page

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Transition zones between healthy and diseased retina in choroideremia (CHM) and Stargardt disease (STGD) as compared to retinitis pigmentosa (RP).

Investigative Ophthalmology & Visual Science

Lazow, Margot A MA; Hood, Donald C DC; Ramachandran, Rithambara R; Burke, Tomas R TR; Wang, Yi-Zhong YZ; Greenstein, Vivienne C VC; Birch, David G DG

Publication Date: 2011-12-20

Variant appearance in text: ABCA4: I1846T

PubMed Link: 22076985

Variant Present in the following documents:

• Main text

View BVdb publication page

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Quantification of peripapillary sparing and macular involvement in Stargardt disease (STGD1).

Investigative Ophthalmology & Visual Science

Burke, Tomas R TR; Rhee, David W DW; Smith, R Theodore RT; Tsang, Stephen H SH; Allikmets, Rando R; Chang, Stanley S; Lazow, Margot A MA; Hood, Donald C DC; Greenstein, Vivienne C VC

Publication Date: 2011-10-10

Variant appearance in text: ABCA4: I1846T

PubMed Link: 21873672

Variant Present in the following documents:

• Main text

View BVdb publication page

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Outcome of ABCA4 microarray screening in routine clinical practice.

Molecular Vision

Ernest, Paul J G PJ; Boon, Camiel J F CJ; Klevering, B Jeroen BJ; Hoefsloot, Lies H LH; Hoyng, Carel B CB

Publication Date: 2009-12-20

Variant appearance in text: ABCA4: 5537T>C

PubMed Link: 20029649

Variant Present in the following documents:

• Main text
• mv-v15-2841.pdf

View BVdb publication page

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