Publications:

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Monitoring Lesion Area Progression in Stargardt Disease: A Comparison of En Face Optical Coherence Tomography and Fundus Autofluorescence.

Translational Vision Science & Technology

Greenstein, Vivienne C VC; Castillejos, David S DS; Tsang, Stephen H SH; Lee, Winston W; Sparrow, Janet R JR; Allikmets, Rando R; Birch, David G DG; Hood, Donald C DC

Publication Date: 2023-05-01

Variant appearance in text: ABCA4: 4577C>T; Thr1526Met

PubMed Link: 37126335

Variant Present in the following documents:

• Main text
• tvst-12-5-2_s001.pdf
• tvst-12-5-2.pdf

View BVdb publication page

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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: 4577C>T

PubMed Link: 36672932

Variant Present in the following documents:

• genes-14-00191.pdf

View BVdb publication page

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Electroretinography as a Biomarker to Monitor the Progression of Stargardt Disease.

International Journal Of Molecular Sciences

Sajovic, Jana J; Meglič, Andrej A; Hawlina, Marko M; Fakin, Ana A

Publication Date: 2022-12-18

Variant appearance in text: ABCA4: Thr1526Met

PubMed Link: 36555803

Variant Present in the following documents:

• Main text
• ijms-23-16161.pdf

View BVdb publication page

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Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy.

Scientific Reports

Karali, Marianthi M; Testa, Francesco F; Di Iorio, Valentina V; Torella, Annalaura A; Zeuli, Roberta R; Scarpato, Margherita M; Romano, Francesca F; Onore, Maria Elena ME; Pizzo, Mariateresa M; Melillo, Paolo P; Brunetti-Pierri, Raffaella R; Passerini, Ilaria I; Pelo, Elisabetta E; Cremers, Frans P M FPM; Esposito, Gabriella G; Nigro, Vincenzo V; Simonelli, Francesca F; Banfi, Sandro S

Publication Date: 2022-12-02

Variant appearance in text: ABCA4: 4577C>T; Thr1526Met

PubMed Link: 36460718

Variant Present in the following documents:

• 41598_2022_24636_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Atrophy Expansion Rates in Stargardt Disease Using Ultra-Widefield Fundus Autofluorescence.

Ophthalmology Science

Heath Jeffery, Rachael C RC; Thompson, Jennifer A JA; Lo, Johnny J; Lamey, Tina M TM; McLaren, Terri L TL; McAllister, Ian L IL; Mackey, David A DA; Constable, Ian J IJ; De Roach, John N JN; Chen, Fred K FK

Publication Date: 2021-03

Variant appearance in text: ABCA4: 4577C>T

PubMed Link: 36246008

Variant Present in the following documents:

• mmc3.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: 4577C>T; Thr1526Met

PubMed Link: 36178783

Variant Present in the following documents:

• tvst-11-9-34_s002.pdf

View BVdb publication page

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Whole Genome Sequencing, Focused Assays and Functional Studies Increasing Understanding in Cryptic Inherited Retinal Dystrophies.

International Journal Of Molecular Sciences

Nash, Benjamin M BM; Ma, Alan A; Ho, Gladys G; Farnsworth, Elizabeth E; Minoche, Andre E AE; Cowley, Mark J MJ; Barnett, Christopher C; Smith, Janine M JM; Loi, To Ha TH; Wong, Karen K; St Heaps, Luke L; Wright, Dale D; Dinger, Marcel E ME; Bennetts, Bruce B; Grigg, John R JR; Jamieson, Robyn V RV

Publication Date: 2022-03-31

Variant appearance in text: ABCA4: 4577C>T; Thr1526Met

PubMed Link: 35409265

Variant Present in the following documents:

• Main text
• ijms-23-03905.pdf

View BVdb publication page

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SIBLING CONCORDANCE IN SYMPTOM ONSET AND ATROPHY GROWTH RATES IN STARGARDT DISEASE USING ULTRA-WIDEFIELD FUNDUS AUTOFLUORESCENCE.

Retina (Philadelphia, Pa.)

Heath Jeffery, Rachael C RC; Thompson, Jennifer A JA; Lo, Johnny J; Lamey, Tina M TM; McLaren, Terri L TL; De Roach, John N JN; Azamanov, Dimitar N DN; McAllister, Ian L IL; Constable, Ian J IJ; Chen, Fred K FK

Publication Date: 2022-08-01

Variant appearance in text: ABCA4: 4577C>T

PubMed Link: 35344533

Variant Present in the following documents:

• Main text
• retina-42-1545.pdf

View BVdb publication page

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Genetic characteristics of 234 Italian patients with macular and cone/cone-rod dystrophy.

Scientific Reports

Falsini, Benedetto B; Placidi, Giorgio G; De Siena, Elisa E; Chiurazzi, Pietro P; Minnella, Angelo Maria AM; Savastano, Maria Cristina MC; Ziccardi, Lucia L; Parisi, Vincenzo V; Iarossi, Giancarlo G; Percio, Marcella M; Piteková, Barbora B; Marceddu, Giuseppe G; Maltese, Paolo Enrico PE; Bertelli, Matteo M

Publication Date: 2022-03-08

Variant appearance in text: ABCA4: 4577C>T; Thr1526Met; rs61750152

PubMed Link: 35260635

Variant Present in the following documents:

• 41598_2022_7618_MOESM1_ESM.pdf

View BVdb publication page

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Impact of Next Generation Sequencing in Unraveling the Genetics of 1036 Spanish Families With Inherited Macular Dystrophies.

Investigative Ophthalmology & Visual Science

Del Pozo-Valero, Marta M; Riveiro-Alvarez, Rosa R; Martin-Merida, Inmaculada I; Blanco-Kelly, Fiona F; Swafiri, Saoud S; Lorda-Sanchez, Isabel I; Trujillo-Tiebas, Maria José MJ; Carreño, Ester E; Jimenez-Rolando, Belen B; Garcia-Sandoval, Blanca B; Corton, Marta M; Avila-Fernandez, Almudena A; Ayuso, Carmen C

Publication Date: 2022-02-01

Variant appearance in text: ABCA4: 4577C>T

PubMed Link: 35119454

Variant Present in the following documents:

• iovs-63-2-11_s003.pdf

View BVdb publication page

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Impact of Next Generation Sequencing in Unraveling the Genetics of 1036 Spanish Families With Inherited Macular Dystrophies.

Investigative Ophthalmology & Visual Science

Del Pozo-Valero, Marta M; Riveiro-Alvarez, Rosa R; Martin-Merida, Inmaculada I; Blanco-Kelly, Fiona F; Swafiri, Saoud S; Lorda-Sanchez, Isabel I; Trujillo-Tiebas, Maria José MJ; Carreño, Ester E; Jimenez-Rolando, Belen B; Garcia-Sandoval, Blanca B; Corton, Marta M; Avila-Fernandez, Almudena A; Ayuso, Carmen C

Publication Date: 2022-02-01

Variant appearance in text: ABCA4: 4577C>T

PubMed Link: 35119454

Variant Present in the following documents:

• iovs-63-2-11_s003.pdf

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: 4577C>T; Thr1526Met

PubMed Link: 35076026

Variant Present in the following documents:

• jciinsight-7-155373-s142.pdf
• jciinsight-7-155373.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: Thr1526Met

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: 4577C>T; Thr1526Met; rs61750152

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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Clinical and Genetic Spectrum of Stargardt Disease in Argentinean Patients.

Frontiers In Genetics

Mena, Marcela D MD; Moresco, Angélica A AA; Vidal, Sofía H SH; Aguilar-Cortes, Diana D; Obregon, María G MG; Fandiño, Adriana C AC; Sendoya, Juan M JM; Llera, Andrea S AS; Podhajcer, Osvaldo L OL

Publication Date: 2021

Variant appearance in text: ABCA4: 4577C>T; Thr1526Met

PubMed Link: 33841504

Variant Present in the following documents:

• Data_Sheet_2.xlsx, sheet 3
• Data_Sheet_2.xlsx, sheet 2

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: 4577C>T; T1526M

PubMed Link: 33505770

Variant Present in the following documents:

• tvst-10-1-3_s002.pdf

View BVdb publication page

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Thinner temporal peripapillary retinal nerve fibre layer in Stargardt disease detected by optical coherence tomography.

Graefe'S Archive For Clinical And Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie

Reich, Michael M; Lübke, Jan J; Joachimsen, Lutz L; Stifter, Julia J; Küchlin, Sebastian S; Böhringer, Daniel D; Lange, Clemens C; Lagrèze, Wolf A WA

Publication Date: 2021-06

Variant appearance in text: STGD: 4577C>T

PubMed Link: 33185728

Variant Present in the following documents:

• Main text
• 417_2020_Article_4992.pdf

View BVdb publication page

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Deep learning segmentation of hyperautofluorescent fleck lesions in Stargardt disease.

Scientific Reports

Charng, Jason J; Xiao, Di D; Mehdizadeh, Maryam M; Attia, Mary S MS; Arunachalam, Sukanya S; Lamey, Tina M TM; Thompson, Jennifer A JA; McLaren, Terri L TL; De Roach, John N JN; Mackey, David A DA; Frost, Shaun S; Chen, Fred K FK

Publication Date: 2020-10-05

Variant appearance in text: STGD1: 4577C>T

PubMed Link: 33020556

Variant Present in the following documents:

• Main text

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: 4577C>T

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: T1526M

PubMed Link: 32884132

Variant Present in the following documents:

• NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 6

View BVdb publication page

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The genetic architecture of Stargardt macular dystrophy (STGD1): a longitudinal 40-year study in a genetic isolate.

European Journal Of Human Genetics : Ejhg

Green, Jane S JS; O'Rielly, Darren D DD; Pater, Justin A JA; Houston, Jim J; Rajabi, Hoda H; Galutira, Dante D; Benteau, Tammy T; Sheaves, Amy A; Abdelfatah, Nelly N; Bautista, Donna D; Whelan, Jim J; Young, Terry-Lynn TL

Publication Date: 2020-07

Variant appearance in text: STGD: 4577C>T

PubMed Link: 32467599

Variant Present in the following documents:

• Main text

View BVdb publication page

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Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations.

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

Zampaglione, Erin E; Kinde, Benyam B; Place, Emily M EM; Navarro-Gomez, Daniel D; Maher, Matthew M; Jamshidi, Farzad F; Nassiri, Sherwin S; Mazzone, J Alex JA; Finn, Caitlin C; Schlegel, Dana D; Comander, Jason J; Pierce, Eric A EA; Bujakowska, Kinga M KM

Publication Date: 2020-06

Variant appearance in text: ABCA4: 4577C>T; Thr1526Met

PubMed Link: 32037395

Variant Present in the following documents:

• 41436_2020_759_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.

Molecular Genetics & Genomic Medicine

Zheng, Jianchao J; Zhang, Hongyun H; Banerjee, Santasree S; Li, Yun Y; Zhou, Junyu J; Yang, Qian Q; Tan, Xuemei X; Han, Peng P; Fu, Qinmei Q; Cui, Xiaoli X; Yuan, Yuying Y; Zhang, Meiyan M; Shen, Ruiqin R; Song, Haifeng H; Zhang, Xiuqing X; Zhao, Lijian L; Peng, Zhiyu Z; Wang, Wei W; Yin, Ye Y

Publication Date: 2019-07

Variant appearance in text: ABCA4: 4577C>T; Thr1526Met

PubMed Link: 31165590

Variant Present in the following documents:

• MGG3-7-e00748-s004.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: T1526M

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: 4577C>T; Thr1526Met

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

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: T1526M; rs61750152

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides.

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

Sangermano, Riccardo R; Garanto, Alejandro A; Khan, Mubeen M; Runhart, Esmee H EH; Bauwens, Miriam M; Bax, Nathalie M NM; van den Born, L Ingeborgh LI; Khan, Muhammad Imran MI; Cornelis, Stéphanie S SS; Verheij, Joke B G M JBGM; Pott, Jan-Willem R JR; Thiadens, Alberta A H J AAHJ; Klaver, Caroline C W CCW; Puech, Bernard B; Meunier, Isabelle I; Naessens, Sarah S; Arno, Gavin G; Fakin, Ana A; Carss, Keren J KJ; Raymond, F Lucy FL; Webster, Andrew R AR; Dhaenens, Claire-Marie CM; Stöhr, Heidi H; Grassmann, Felix F; Weber, Bernhard H F BHF; Hoyng, Carel B CB; De Baere, Elfride E; Albert, Silvia S; Collin, Rob W J RWJ; Cremers, Frans P M FPM

Publication Date: 2019-08

Variant appearance in text: ABCA4: 4577C>T

PubMed Link: 30643219

Variant Present in the following documents:

• Main text
• 41436_2018_Article_414.pdf

View BVdb publication page

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A new approach based on targeted pooled DNA sequencing identifies novel mutations in patients with Inherited Retinal Dystrophies.

Scientific Reports

Ezquerra-Inchausti, Maitane M; Anasagasti, Ander A; Barandika, Olatz O; Garay-Aramburu, Gonzaga G; Galdós, Marta M; López de Munain, Adolfo A; Irigoyen, Cristina C; Ruiz-Ederra, Javier J

Publication Date: 2018-10-18

Variant appearance in text: ABCA4: 4577C>T; Thr1526Met

PubMed Link: 30337596

Variant Present in the following documents:

• Main text
• 41598_2018_Article_33810.pdf
• 41598_2018_33810_MOESM1_ESM.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: 4577C>T

PubMed Link: 29925512

Variant Present in the following documents:

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

View BVdb publication page

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Mutations in GPR143/OA1 and ABCA4 Inform Interpretations of Short-Wavelength and Near-Infrared Fundus Autofluorescence.

Investigative Ophthalmology & Visual Science

Paavo, Maarjaliis M; Zhao, Jin J; Kim, Hye Jin HJ; Lee, Winston W; Zernant, Jana J; Cai, Carolyn C; Allikmets, Rando R; Tsang, Stephen H SH; Sparrow, Janet R JR

Publication Date: 2018-05-01

Variant appearance in text: STGD1: T1526M

PubMed Link: 29847651

Variant Present in the following documents:

• i1552-5783-59-6-2459.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: T1526M

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: 4577C>T; Thr1526Met; rs61750152

PubMed Link: 29641532

Variant Present in the following documents:

• pone.0194098.s003.xlsx, sheet 10

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: 4577C>T; rs61750152

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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A Comparison of En Face Optical Coherence Tomography and Fundus Autofluorescence in Stargardt Disease.

Investigative Ophthalmology & Visual Science

Greenstein, Vivienne C VC; Nunez, Jason J; Lee, Winston W; Schuerch, Kaspar K; Fortune, Brad B; Tsang, Stephen H SH; Allikmets, Rando R; Sparrow, Janet R JR; Hood, Donald C DC

Publication Date: 2017-10-01

Variant appearance in text: ABCA4: T1526M

PubMed Link: 29049723

Variant Present in the following documents:

• i1552-5783-58-12-5227.pdf

View BVdb publication page

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HYPERREFLECTIVE DEPOSITION IN THE BACKGROUND OF ADVANCED STARGARDT DISEASE.

Retina (Philadelphia, Pa.)

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

Publication Date: 2018-11

Variant appearance in text: ABCA4: T1526M

PubMed Link: 29028687

Variant Present in the following documents:

• Main text

View BVdb publication page

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Sources of discordance among germ-line variant classifications in ClinVar.

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

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: ABCA4: 4577C>T; Thr1526Met

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.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: 4577C>T

PubMed Link: 28446513

Variant Present in the following documents:

• Main text

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: 4577C>T

PubMed Link: 28355279

Variant Present in the following documents:

• Main text
• pone.0174020.pdf

View BVdb publication page

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Genotypic spectrum and phenotype correlations of ABCA4-associated disease in patients of south Asian descent.

European Journal Of Human Genetics : Ejhg

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

Publication Date: 2017-06

Variant appearance in text: ABCA4: 4577C>T; T1526M

PubMed Link: 28327576

Variant Present in the following documents:

• Main text

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: 4577C>T; Thr1526Met

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: T1526M

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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Assessment of estimated retinal atrophy progression in Stargardt macular dystrophy using spectral-domain optical coherence tomography.

The British Journal Of Ophthalmology

Strauss, Rupert W RW; Muñoz, Beatriz B; Wolfson, Yulia Y; Sophie, Raafay R; Fletcher, Emily E; Bittencourt, Millena G MG; Scholl, Hendrik P N HP

Publication Date: 2016-07

Variant appearance in text: ABCA4: 4577C>T

PubMed Link: 26568636

Variant Present in the following documents:

• bjophthalmol-2015-307035-s1.pdf

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: T1526M

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1

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Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing.

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

Consugar, Mark B MB; Navarro-Gomez, Daniel D; Place, Emily M EM; Bujakowska, Kinga M KM; Sousa, Maria E ME; Fonseca-Kelly, Zoë D ZD; Taub, Daniel G DG; Janessian, Maria M; Wang, Dan Yi DY; Au, Elizabeth D ED; Sims, Katherine B KB; Sweetser, David A DA; Fulton, Anne B AB; Liu, Qin Q; Wiggs, Janey L JL; Gai, Xiaowu X; Pierce, Eric A EA

Publication Date: 2015-04

Variant appearance in text: ABCA4: 4577C>T

PubMed Link: 25412400

Variant Present in the following documents:

• NIHMS639026-supplement-Supplementary_Material_-_Table_S7_Excel.xls, sheet 1

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Correlations among near-infrared and short-wavelength autofluorescence and spectral-domain optical coherence tomography in recessive Stargardt disease.

Investigative Ophthalmology & Visual Science

Duncker, Tobias T; Marsiglia, Marcela M; Lee, Winston W; Zernant, Jana J; Tsang, Stephen H SH; Allikmets, Rando R; Greenstein, Vivienne C VC; Sparrow, Janet R JR

Publication Date: 2014-10-23

Variant appearance in text: ABCA4: T1526M

PubMed Link: 25342616

Variant Present in the following documents:

• Main text

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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: 4577C>T; rs61750152

PubMed Link: 25312043

Variant Present in the following documents:

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

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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: 4577C>T; rs61750152

PubMed Link: 25082885

Variant Present in the following documents:

• Main text

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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: T1526M

PubMed Link: 24550365

Variant Present in the following documents:

• Main text

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Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements.

Human Genetics

Wang, Feng F; Wang, Hui H; Tuan, Han-Fang HF; Nguyen, Duy H DH; Sun, Vincent V; Keser, Vafa V; Bowne, Sara J SJ; Sullivan, Lori S LS; Luo, Hongrong H; Zhao, Ling L; Wang, Xia X; Zaneveld, Jacques E JE; Salvo, Jason S JS; Siddiqui, Sorath S; Mao, Louise L; Wheaton, Dianna K DK; Birch, David G DG; Branham, Kari E KE; Heckenlively, John R JR; Wen, Cindy C; Flagg, Ken K; Ferreyra, Henry H; Pei, Jacqueline J; Khan, Ayesha A; Ren, Huanan H; Wang, Keqing K; Lopez, Irma I; Qamar, Raheel R; Zenteno, Juan C JC; Ayala-Ramirez, Raul R; Buentello-Volante, Beatriz B; Fu, Qing Q; Simpson, David A DA; Li, Yumei Y; Sui, Ruifang R; Silvestri, Giuliana G; Daiger, Stephen P SP; Koenekoop, Robert K RK; Zhang, Kang K; Chen, Rui R

Publication Date: 2014-03

Variant appearance in text: ABCA4: 4577C>T; T1526M

PubMed Link: 24154662

Variant Present in the following documents:

• Main text

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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: 4577C>T; T1526M; rs61750152

PubMed Link: 23982839

Variant Present in the following documents:

• Main text

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Outcome of ABCA4 disease-associated alleles in autosomal recessive retinal dystrophies: retrospective analysis in 420 Spanish families.

Ophthalmology

Riveiro-Alvarez, Rosa R; Lopez-Martinez, Miguel-Angel MA; Zernant, Jana J; Aguirre-Lamban, Jana J; Cantalapiedra, Diego D; Avila-Fernandez, Almudena A; Gimenez, Ascension A; Lopez-Molina, Maria-Isabel MI; Garcia-Sandoval, Blanca B; Blanco-Kelly, Fiona F; Corton, Marta M; Tatu, Sorina S; Fernandez-San Jose, Patricia P; Trujillo-Tiebas, Maria-Jose MJ; Ramos, Carmen C; Allikmets, Rando R; Ayuso, Carmen C

Publication Date: 2013-11

Variant appearance in text: ABCA4: 4577C>T

PubMed Link: 23755871

Variant Present in the following documents:

• Main text

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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: T1526M

PubMed Link: 22247458

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: T1526M

PubMed Link: 19074458

Variant Present in the following documents:

• Main text

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