Publications:

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Genetic Diagnosis for 64 Patients with Inherited Retinal Disease.

Genes

Lynn, Jacob J; Raney, Austin A; Britton, Nathaniel N; Ramoin, Josh J; Yang, Ryan W RW; Radojevic, Bojana B; McClard, Cynthia K CK; Kingsley, Ronald R; Coussa, Razek Georges RG; Bennett, Lea D LD

Publication Date: 2022-12-26

Variant appearance in text: ABCA4: 161G>A

PubMed Link: 36672815

Variant Present in the following documents:

• genes-14-00074.pdf

View BVdb publication page

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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: 161G>A; Cys54Tyr

PubMed Link: 36178783

Variant Present in the following documents:

• tvst-11-9-34_s002.pdf

View BVdb publication page

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Comparisons Among Optical Coherence Tomography and Fundus Autofluorescence Modalities as Measurements of Atrophy in ABCA4-Associated Disease.

Translational Vision Science & Technology

Parmann, Rait R; Tsang, Stephen H SH; Zernant, Jana J; Allikmets, Rando R; Greenstein, Vivienne C VC; Sparrow, Janet R JR

Publication Date: 2022-01-03

Variant appearance in text: ABCA4: 161G>A

PubMed Link: 35089312

Variant Present in the following documents:

• Main text

View BVdb publication page

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Comparisons Among Optical Coherence Tomography and Fundus Autofluorescence Modalities as Measurements of Atrophy in ABCA4-Associated Disease.

Translational Vision Science & Technology

Parmann, Rait R; Tsang, Stephen H SH; Zernant, Jana J; Allikmets, Rando R; Greenstein, Vivienne C VC; Sparrow, Janet R JR

Publication Date: 2022-01-03

Variant appearance in text: ABCA4: 161G>A

PubMed Link: 35089312

Variant Present in the following documents:

• Main text

View BVdb publication page

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Photoreceptor degeneration in ABCA4-associated retinopathy and its genetic correlates.

Jci Insight

Pfau, Maximilian M; Cukras, Catherine A CA; Huryn, Laryssa A LA; Zein, Wadih M WM; Ullah, Ehsan E; Boyle, Marisa P MP; Turriff, Amy A; Chen, Michelle A MA; Hinduja, Aarti S AS; Siebel, Hermann Ea HE; Hufnagel, Robert B RB; Jeffrey, Brett G BG; Brooks, Brian P BP

Publication Date: 2022-01-25

Variant appearance in text: ABCA4: 161G>A

PubMed Link: 35076026

Variant Present in the following documents:

• jciinsight-7-155373.pdf
• jciinsight-7-155373-s142.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: Cys54Tyr

PubMed Link: 34874912

Variant Present in the following documents:

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

View BVdb publication page

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Cryo-EM structures of the ABCA4 importer reveal mechanisms underlying substrate binding and Stargardt disease.

Nature Communications

Scortecci, Jessica Fernandes JF; Molday, Laurie L LL; Curtis, Susan B SB; Garces, Fabian A FA; Panwar, Pankaj P; Van Petegem, Filip F; Molday, Robert S RS

Publication Date: 2021-10-08

Variant appearance in text: ABCA4: C54Y

PubMed Link: 34625547

Variant Present in the following documents:

• Main text
• 41467_2021_Article_26161.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: 161G>A; Cys54Tyr; rs150774447

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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The Alter Retina: Alternative Splicing of Retinal Genes in Health and Disease.

International Journal Of Molecular Sciences

Aísa-Marín, Izarbe I; García-Arroyo, Rocío R; Mirra, Serena S; Marfany, Gemma G

Publication Date: 2021-02-12

Variant appearance in text: ABCA4: 161G>A; Cys54Tyr

PubMed Link: 33673358

Variant Present in the following documents:

• Main text
• ijms-22-01855.pdf

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: 161G>A; C54Y

PubMed Link: 33505770

Variant Present in the following documents:

• tvst-10-1-3_s002.pdf

View BVdb publication page

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Visual hallucinations and sight loss in children and young adults: a retrospective case series of Charles Bonnet syndrome.

The British Journal Of Ophthalmology

Jones, Lee L; Moosajee, Mariya M

Publication Date: 2021-11

Variant appearance in text: ABCA4: 161G>A

PubMed Link: 32933935

Variant Present in the following documents:

• Main text
• bjophthalmol-2020-317237.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: C54Y

PubMed Link: 32884132

Variant Present in the following documents:

• NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 6

View BVdb publication page

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Detailed Phenotyping and Therapeutic Strategies for Intronic ABCA4 Variants in Stargardt Disease.

Molecular Therapy. Nucleic Acids

Khan, Mubeen M; Arno, Gavin G; Fakin, Ana A; Parfitt, David A DA; Dhooge, Patty P A PPA; Albert, Silvia S; Bax, Nathalie M NM; Duijkers, Lonneke L; Niblock, Michael M; Hau, Kwan L KL; Bloch, Edward E; Schiff, Elena R ER; Piccolo, Davide D; Hogden, Michael C MC; Hoyng, Carel B CB; Webster, Andrew R AR; Cremers, Frans P M FPM; Cheetham, Michael E ME; Garanto, Alejandro A; Collin, Rob W J RWJ

Publication Date: 2020-09-04

Variant appearance in text: STGD1: 161G>A

PubMed Link: 32653833

Variant Present in the following documents:

• Main text
• main.pdf
• mmc6.pdf

View BVdb publication page

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Clinical spectrum, genetic complexity and therapeutic approaches for retinal disease caused by ABCA4 mutations.

Progress In Retinal And Eye Research

Cremers, Frans P M FPM; Lee, Winston W; Collin, Rob W J RWJ; Allikmets, Rando R

Publication Date: 2020-11

Variant appearance in text: ABCA4: 161G>A

PubMed Link: 32278709

Variant Present in the following documents:

• Main text
• nihms-1627942.pdf

View BVdb publication page

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Precision medicine integrating whole-genome sequencing, comprehensive metabolomics, and advanced imaging.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Hou, Ying-Chen Claire YC; Yu, Hung-Chun HC; Martin, Rick R; Cirulli, Elizabeth T ET; Schenker-Ahmed, Natalie M NM; Hicks, Michael M; Cohen, Isaac V IV; Jönsson, Thomas J TJ; Heister, Robyn R; Napier, Lori L; Swisher, Christine Leon CL; Dominguez, Saints S; Tang, Haibao H; Li, Weizhong W; Perkins, Bradley A BA; Barea, Jaime J; Rybak, Christina C; Smith, Emily E; Duchicela, Keegan K; Doney, Michael M; Brar, Pamila P; Hernandez, Nathaniel N; Kirkness, Ewen F EF; Kahn, Andrew M AM; Venter, J Craig JC; Karow, David S DS; Caskey, C Thomas CT

Publication Date: 2020-02-11

Variant appearance in text: ABCA4: 161G>A; Cys54Tyr

PubMed Link: 31980526

Variant Present in the following documents:

• pnas.1909378117.sd01.xlsx, sheet 3

View BVdb publication page

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Findings from a Genotyping Study of Over 1000 People with Inherited Retinal Disorders in Ireland.

Genes

Whelan, Laura L; Dockery, Adrian A; Wynne, Niamh N; Zhu, Julia J; Stephenson, Kirk K; Silvestri, Giuliana G; Turner, Jacqueline J; O'Byrne, James J JJ; Carrigan, Matthew M; Humphries, Peter P; Keegan, David D; Kenna, Paul F PF; Farrar, G Jane GJ

Publication Date: 2020-01-16

Variant appearance in text: ABCA4: 161G>A

PubMed Link: 31963381

Variant Present in the following documents:

• Main text
• genes-11-00105.pdf

View BVdb publication page

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Identification of splice defects due to noncanonical splice site or deep-intronic variants in ABCA4.

Human Mutation

Fadaie, Zeinab Z; Khan, Mubeen M; Del Pozo-Valero, Marta M; Cornelis, Stéphanie S SS; Ayuso, Carmen C; Cremers, Frans P M FPM; Roosing, Susanne S; The Abca Study Group,

Publication Date: 2019-12

Variant appearance in text: ABCA4: 161G>A

PubMed Link: 31397521

Variant Present in the following documents:

• Main text
• HUMU-40-2365.pdf

View BVdb publication page

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An Ophthalmic Targeted Exome Sequencing Panel as a Powerful Tool to Identify Causative Mutations in Patients Suspected of Hereditary Eye Diseases.

Translational Vision Science & Technology

Wang, Panfeng P; Li, Shiqiang S; Sun, Wenming W; Xiao, Xueshan X; Jia, Xiaoyun X; Liu, Mengchu M; Xu, Lieqiang L; Long, Yuxi Y; Zhang, Qingjiong Q

Publication Date: 2019-03

Variant appearance in text: ABCA4: Cys54Tyr

PubMed Link: 31106028

Variant Present in the following documents:

• tvst-08-02-12_s02.xlsx, sheet 1

View BVdb publication page

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Multi-platform imaging in ABCA4-Associated Disease.

Scientific Reports

Chen, Lijuan L; Lee, Winston W; de Carvalho, Jose Ronaldo Lima JRL; Chang, Stanley S; Tsang, Stephen H SH; Allikmets, Rando R; Sparrow, Janet R JR

Publication Date: 2019-04-23

Variant appearance in text: ABCA4: C54Y

PubMed Link: 31015497

Variant Present in the following documents:

• Main text
• 41598_2019_Article_42772.pdf

View BVdb publication page

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An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation

Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,

Publication Date: 2019-01-01

Variant appearance in text: ABCA4: 161G>A; Cys54Tyr

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

View BVdb publication page

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Correlation of Outer Retinal Degeneration and Choriocapillaris Loss in Stargardt Disease Using En Face Optical Coherence Tomography and Optical Coherence Tomography Angiography.

American Journal Of Ophthalmology

Alabduljalil, Talal T; Patel, Rachel C RC; Alqahtani, Abdullah A AA; Gao, Simon S SS; Gale, Michael J MJ; Zhang, Miao M; Jia, Yali Y; Huang, David D; Chiang, Pei-Wen PW; Chen, Rui R; Wang, Jun J; Weleber, Richard G RG; Pennesi, Mark E ME; Yang, Paul P

Publication Date: 2019-06

Variant appearance in text: ABCA4: 161G>A

PubMed Link: 30771335

Variant Present in the following documents:

• Main text

View BVdb publication page

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Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics

Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN

Publication Date: 2019-02-07

Variant appearance in text: ABCA4: C54Y; rs150774447

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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: 161G>A

PubMed Link: 30055151

Variant Present in the following documents:

• Main text

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: STGD1: 161G>A

PubMed Link: 29925512

Variant Present in the following documents:

• bjophthalmol-2018-312064supp004.pdf

View BVdb publication page

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Transplantation of Human Embryonic Stem Cell-Derived Retinal Pigment Epithelial Cells in Macular Degeneration.

Ophthalmology

Mehat, Manjit S MS; Sundaram, Venki V; Ripamonti, Caterina C; Robson, Anthony G AG; Smith, Alexander J AJ; Borooah, Shyamanga S; Robinson, Martha M; Rosenthal, Adam N AN; Innes, William W; Weleber, Richard G RG; Lee, Richard W J RWJ; Crossland, Michael M; Rubin, Gary S GS; Dhillon, Baljean B; Steel, David H W DHW; Anglade, Eddy E; Lanza, Robert P RP; Ali, Robin R RR; Michaelides, Michel M; Bainbridge, James W B JWB

Publication Date: 2018-11

Variant appearance in text: ABCA4: 161G>A

PubMed Link: 29884405

Variant Present in the following documents:

• Main text

View BVdb publication page

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Extremely hypomorphic and severe deep intronic variants in the ABCA4 locus result in varying Stargardt disease phenotypes.

Cold Spring Harbor Molecular Case Studies

Zernant, Jana J; Lee, Winston W; Nagasaki, Takayuki T; Collison, Frederick T FT; Fishman, Gerald A GA; Bertelsen, Mette M; Rosenberg, Thomas T; Gouras, Peter P; Tsang, Stephen H SH; Allikmets, Rando R

Publication Date: 2018-08

Variant appearance in text: ABCA4: 161G>A

PubMed Link: 29848554

Variant Present in the following documents:

• Main text
• MCS002733Zer.pdf

View BVdb publication page

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Photoreceptor cells as a source of fundus autofluorescence in recessive Stargardt disease.

Journal Of Neuroscience Research

Paavo, Maarjaliis M; Lee, Winston W; Allikmets, Rando R; Tsang, Stephen S; Sparrow, Janet R JR

Publication Date: 2019-01

Variant appearance in text: ABCA4: C54Y

PubMed Link: 29701254

Variant Present in the following documents:

• Main text

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: 161G>A; Cys54Tyr; rs150774447

PubMed Link: 29641532

Variant Present in the following documents:

• pone.0194098.s003.xlsx, sheet 10

View BVdb publication page

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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: C54Y

PubMed Link: 29376001

Variant Present in the following documents:

• Main text

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: 161G>A; rs150774447

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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Frequent hypomorphic alleles account for a significant fraction of ABCA4 disease and distinguish it from age-related macular degeneration.

Journal Of Medical Genetics

Zernant, Jana J; Lee, Winston W; Collison, Frederick T FT; Fishman, Gerald A GA; Sergeev, Yuri V YV; Schuerch, Kaspar K; Sparrow, Janet R JR; Tsang, Stephen H SH; Allikmets, Rando R

Publication Date: 2017-06

Variant appearance in text: ABCA4: 161G>A

PubMed Link: 28446513

Variant Present in the following documents:

• Main text

View BVdb publication page

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Mutation Spectrum of the ABCA4 Gene in 335 Stargardt Disease Patients From a Multicenter German Cohort-Impact of Selected Deep Intronic Variants and Common SNPs.

Investigative Ophthalmology & Visual Science

Schulz, Heidi L HL; Grassmann, Felix F; Kellner, Ulrich U; Spital, Georg G; Rüther, Klaus K; Jägle, Herbert H; Hufendiek, Karsten K; Rating, Philipp P; Huchzermeyer, Cord C; Baier, Maria J MJ; Weber, Bernhard H F BH; Stöhr, Heidi H

Publication Date: 2017-01-01

Variant appearance in text: STGD: 161G>A

PubMed Link: 28118664

Variant Present in the following documents:

• iovs-57-15-69_s04.pdf
• iovs-57-15-69_s05.pdf

View BVdb publication page

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A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ

Publication Date: 2016-07-28

Variant appearance in text: ABCA4: 161G>A; C54Y

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

View BVdb publication page

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Molecular findings from 537 individuals with inherited retinal disease.

Journal Of Medical Genetics

Ellingford, Jamie M JM; Barton, Stephanie S; Bhaskar, Sanjeev S; O'Sullivan, James J; Williams, Simon G SG; Lamb, Janine A JA; Panda, Binay B; Sergouniotis, Panagiotis I PI; Gillespie, Rachel L RL; Daiger, Stephen P SP; Hall, Georgina G; Gale, Theodora T; Lloyd, I Christopher IC; Bishop, Paul N PN; Ramsden, Simon C SC; Black, Graeme C M GCM

Publication Date: 2016-11

Variant appearance in text: ABCA4: 161G>A; Cys54Tyr

PubMed Link: 27208204

Variant Present in the following documents:

• jmedgenet-2016-103837supp_tables.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: C54Y

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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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: C54Y

PubMed Link: 26527198

Variant Present in the following documents:

• Main text

View BVdb publication page

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Predicting Progression of ABCA4-Associated Retinal Degenerations Based on Longitudinal Measurements of the Leading Disease Front.

Investigative Ophthalmology & Visual Science

Cideciyan, Artur V AV; Swider, Malgorzata M; Schwartz, Sharon B SB; Stone, Edwin M EM; Jacobson, Samuel G SG

Publication Date: 2015-09

Variant appearance in text: ABCA4: C54Y

PubMed Link: 26377081

Variant Present in the following documents:

• Main text

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: C54Y

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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High Diagnostic Yield of Whole Exome Sequencing in Participants With Retinal Dystrophies in a Clinical Ophthalmology Setting.

American Journal Of Ophthalmology

Lee, Kristy K; Berg, Jonathan S JS; Milko, Laura L; Crooks, Kristy K; Lu, Mei M; Bizon, Chris C; Owen, Phillips P; Wilhelmsen, Kirk C KC; Weck, Karen E KE; Evans, James P JP; Garg, Seema S

Publication Date: 2015-08

Variant appearance in text: ABCA4: 161G>A; Cys54Tyr

PubMed Link: 25910913

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: 161G>A; Cys54Tyr

PubMed Link: 25472526

Variant Present in the following documents:

• Main text

View BVdb publication page

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Molecular diagnostic testing by eyeGENE: analysis of patients with hereditary retinal dystrophy phenotypes involving central vision loss.

Investigative Ophthalmology & Visual Science

Alapati, Akhila A; Goetz, Kerry K; Suk, John J; Navani, Mili M; Al-Tarouti, Amani A; Jayasundera, Thiran T; Tumminia, Santa J SJ; Lee, Pauline P; Ayyagari, Radha R

Publication Date: 2014-07-31

Variant appearance in text: ABCA4: 161G>A; rs150774447

PubMed Link: 25082885

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic and clinical analysis of ABCA4-associated disease in African American patients.

Human Mutation

Zernant, Jana J; Collison, Frederick T FT; Lee, Winston W; Fishman, Gerald A GA; Noupuu, Kalev K; Yuan, Bo B; Cai, Carolyn C; Lupski, James R JR; Yannuzzi, Lawrence A LA; Tsang, Stephen H SH; Allikmets, Rando R

Publication Date: 2014-10

Variant appearance in text: ABCA4: 161G>A

PubMed Link: 25066811

Variant Present in the following documents:

• Main text
• humu0035-1187.pdf

View BVdb publication page

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Quantitative fundus autofluorescence in recessive Stargardt disease.

Investigative Ophthalmology & Visual Science

Burke, Tomas R TR; Duncker, Tobias T; Woods, Russell L RL; Greenberg, Jonathan P JP; Zernant, Jana J; Tsang, Stephen H SH; Smith, R Theodore RT; Allikmets, Rando R; Sparrow, Janet R JR; Delori, François C FC

Publication Date: 2014-05-01

Variant appearance in text: ABCA4: C54Y

PubMed Link: 24677105

Variant Present in the following documents:

• Main text

View BVdb publication page

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Inner and outer retinal changes in retinal degenerations associated with ABCA4 mutations.

Investigative Ophthalmology & Visual Science

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

Publication Date: 2014-03-20

Variant appearance in text: ABCA4: C54Y

PubMed Link: 24550365

Variant Present in the following documents:

• Main text

View BVdb publication page

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Distinct characteristics of inferonasal fundus autofluorescence patterns in stargardt disease and retinitis pigmentosa.

Investigative Ophthalmology & Visual Science

Duncker, Tobias T; Lee, Winston W; Tsang, Stephen H SH; Greenberg, Jonathan P JP; Zernant, Jana J; Allikmets, Rando R; Sparrow, Janet R JR

Publication Date: 2013-10-17

Variant appearance in text: STGD1: C54Y

PubMed Link: 24071957

Variant Present in the following documents:

• Main text

View BVdb publication page

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ABCA4 gene screening by next-generation sequencing in a British cohort.

Investigative Ophthalmology & Visual Science

Fujinami, Kaoru K; Zernant, Jana J; Chana, Ravinder K RK; Wright, Genevieve A GA; Tsunoda, Kazushige K; Ozawa, Yoko Y; Tsubota, Kazuo K; Webster, Andrew R AR; Moore, Anthony T AT; Allikmets, Rando R; Michaelides, Michel M

Publication Date: 2013-10-11

Variant appearance in text: ABCA4: 161G>A; C54Y; rs150774447

PubMed Link: 23982839

Variant Present in the following documents:

• Main text

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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: Cys54Tyr

PubMed Link: 22328824

Variant Present in the following documents:

• Main text
• mv-v18-280.pdf

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Macular function in macular degenerations: repeatability of microperimetry as a potential outcome measure for ABCA4-associated retinopathy trials.

Investigative Ophthalmology & Visual Science

Cideciyan, Artur V AV; Swider, Malgorzata M; Aleman, Tomas S TS; Feuer, Willam J WJ; Schwartz, Sharon B SB; Russell, Robert C RC; Steinberg, Janet D JD; Stone, Edwin M EM; Jacobson, Samuel G SG

Publication Date: 2012-02

Variant appearance in text: STGD: C54Y

PubMed Link: 22247458

Variant Present in the following documents:

• Main text

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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: C54Y

PubMed Link: 21873672

Variant Present in the following documents:

• Main text

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Peripapillary retinal nerve fiber layer thinning in patients with autosomal recessive cone-rod dystrophy.

American Journal Of Ophthalmology

Pasadhika, Sirichai S; Fishman, Gerald A GA; Allikmets, Rando R; Stone, Edwin M EM

Publication Date: 2009-08

Variant appearance in text: ABCA4: cys54tyr

PubMed Link: 19406377

Variant Present in the following documents:

• Main text

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G1961E mutant allele in the Stargardt disease gene ABCA4 causes bull's eye maculopathy.

Experimental Eye Research

Cella, Wener W; Greenstein, Vivienne C VC; Zernant-Rajang, Jana J; Smith, Theodore R TR; Barile, Gaetano G; Allikmets, Rando R; Tsang, Stephen H SH

Publication Date: 2009-06-15

Variant appearance in text: ABCA4: C54Y

PubMed Link: 19217903

Variant Present in the following documents:

• Main text

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ABCA4 disease progression and a proposed strategy for gene therapy.

Human Molecular Genetics

Cideciyan, Artur V AV; Swider, Malgorzata M; Aleman, Tomas S TS; Tsybovsky, Yaroslav Y; Schwartz, Sharon B SB; Windsor, Elizabeth A M EA; Roman, Alejandro J AJ; Sumaroka, Alexander A; Steinberg, Janet D JD; Jacobson, Samuel G SG; Stone, Edwin M EM; Palczewski, Krzysztof K

Publication Date: 2009-03-01

Variant appearance in text: ABCA4: C54Y

PubMed Link: 19074458

Variant Present in the following documents:

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Macular pigment and lutein supplementation in ABCA4-associated retinal degenerations.

Investigative Ophthalmology & Visual Science

Aleman, Tomas S TS; Cideciyan, Artur V AV; Windsor, Elizabeth A M EA; Schwartz, Sharon B SB; Swider, Malgorzata M; Chico, John D JD; Sumaroka, Alexander A; Pantelyat, Alexander Y AY; Duncan, Keith G KG; Gardner, Leigh M LM; Emmons, Jessica M JM; Steinberg, Janet D JD; Stone, Edwin M EM; Jacobson, Samuel G SG

Publication Date: 2007-03

Variant appearance in text: ABCA4: C54Y

PubMed Link: 17325179

Variant Present in the following documents:

• Main text

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