Publications:

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Effective smMIPs-Based Sequencing of Maculopathy-Associated Genes in Stargardt Disease Cases and Allied Maculopathies from the UK.

Genes

Mc Clinton, Benjamin B; Corradi, Zelia Z; McKibbin, Martin M; Panneman, Daan M DM; Roosing, Susanne S; Boonen, Erica G M EGM; Ali, Manir M; Watson, Christopher M CM; Steel, David H DH; Cremers, Frans P M FPM; Inglehearn, Chris F CF; Hitti-Malin, Rebekkah J RJ; Toomes, Carmel C

Publication Date: 2023-01-11

Variant appearance in text: ABCA4: 1317G>A

PubMed Link: 36672932

Variant Present in the following documents:

• genes-14-00191.pdf

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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: 1317G>A; Trp439*

PubMed Link: 36178783

Variant Present in the following documents:

• tvst-11-9-34_s002.pdf

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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: 1317G>A; Trp439Ter; rs61752391

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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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: 1317G>A; W439*

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: W439X

PubMed Link: 32884132

Variant Present in the following documents:

• NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 6

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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: 1317G>A; W439*

PubMed Link: 32298433

Variant Present in the following documents:

• iovs-61-4-13_s001.pdf

View BVdb publication page

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Detailed genetic characteristics of an international large cohort of patients with Stargardt disease: ProgStar study report 8.

The British Journal Of Ophthalmology

Fujinami, Kaoru K; Strauss, Rupert W RW; Chiang, John Pei-Wen JP; Audo, Isabelle S IS; Bernstein, Paul S PS; Birch, David G DG; Bomotti, Samantha M SM; Cideciyan, Artur V AV; Ervin, Ann-Margret AM; Marino, Meghan J MJ; Sahel, José-Alain JA; Mohand-Said, Saddek S; Sunness, Janet S JS; Traboulsi, Elias I EI; West, Sheila S; Wojciechowski, Robert R; Zrenner, Eberhart E; Michaelides, Michel M; Scholl, Hendrik P N HPN; , ; ,

Publication Date: 2019-03

Variant appearance in text: ABCR: 1317G>A

PubMed Link: 29925512

Variant Present in the following documents:

• Main text
• bjophthalmol-2018-312064supp004.pdf
• bjophthalmol-2018-312064supp005.pdf
• bjophthalmol-2018-312064.pdf

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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: 1317G>A; rs61752391

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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Molecular Heterogeneity Within the Clinical Diagnosis of Pericentral Retinal Degeneration.

Investigative Ophthalmology & Visual Science

Matsui, Rodrigo R; Cideciyan, Artur V AV; Schwartz, Sharon B SB; Sumaroka, Alexander A; Roman, Alejandro J AJ; Swider, Malgorzata M; Huang, Wei Chieh WC; Sheplock, Rebecca R; Jacobson, Samuel G SG

Publication Date: 2015-09

Variant appearance in text: ABCA4: W439X

PubMed Link: 26393467

Variant Present in the following documents:

• Main text

View BVdb publication page

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Next-generation sequencing-based molecular diagnosis of 82 retinitis pigmentosa probands from Northern Ireland.

Human Genetics

Zhao, Li L; Wang, Feng F; Wang, Hui H; Li, Yumei Y; Alexander, Sharon S; Wang, Keqing K; Willoughby, Colin E CE; Zaneveld, Jacques E JE; Jiang, Lichun L; Soens, Zachry T ZT; Earle, Philip P; Simpson, David D; Silvestri, Giuliana G; Chen, Rui R

Publication Date: 2015-02

Variant appearance in text: ABCA4: 1317G>A; Trp439*

PubMed Link: 25472526

Variant Present in the following documents:

• Main text

View BVdb publication page

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Clinical and molecular characteristics of childhood-onset Stargardt disease.

Ophthalmology

Fujinami, Kaoru K; Zernant, Jana J; Chana, Ravinder K RK; Wright, Genevieve A GA; Tsunoda, Kazushige K; Ozawa, Yoko Y; Tsubota, Kazuo K; Robson, Anthony G AG; Holder, Graham E GE; Allikmets, Rando R; Michaelides, Michel M; Moore, Anthony T AT

Publication Date: 2015-02

Variant appearance in text: ABCA4: 1317G>A

PubMed Link: 25312043

Variant Present in the following documents:

• Main text
• nihms693250.pdf
• NIHMS693250-supplement-Table_4.pdf

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The value of retinal imaging with infrared scanning laser ophthalmoscopy in patients with stargardt disease.

Retina (Philadelphia, Pa.)

Chun, Robert R; Fishman, Gerald A GA; Collison, Frederick T FT; Stone, Edwin M EM; Zernant, Jana J; Allikmets, Rando R

Publication Date: 2014-07

Variant appearance in text: ABCA4: W439X

PubMed Link: 24317291

Variant Present in the following documents:

• Main text

View BVdb publication page

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Stargardt macular dystrophy: common ABCA4 mutations in South Africa--establishment of a rapid genetic test and relating risk to patients.

Molecular Vision

Roberts, Lisa J LJ; Nossek, Christel A CA; Greenberg, L Jacquie LJ; Ramesar, Rajkumar S RS

Publication Date: 2012

Variant appearance in text: ABCR: Trp439*

PubMed Link: 22328824

Variant Present in the following documents:

• Main text
• mv-v18-280.pdf

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