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: 4234C>T; Gln1412*

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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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: 4234C>T; Gln1412*

PubMed Link: 36178783

Variant Present in the following documents:

• tvst-11-9-34_s002.pdf

View BVdb publication page

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Genetics of Inherited Retinal Diseases in Understudied Ethnic Groups in Italian Hospitals.

Frontiers In Genetics

Maltese, Paolo Enrico PE; Colombo, Leonardo L; Martella, Salvatore S; Rossetti, Luca L; El Shamieh, Said S; Sinibaldi, Lorenzo L; Passarelli, Chiara C; Coppè, Andrea Maria AM; Buzzonetti, Luca L; Falsini, Benedetto B; Chiurazzi, Pietro P; Placidi, Giorgio G; Tanzi, Benedetta B; Bertelli, Matteo M; Iarossi, Giancarlo G

Publication Date: 2022

Variant appearance in text: ABCA4: 4234C>T; Gln1412*; rs61750137

PubMed Link: 35836572

Variant Present in the following documents:

• Table1.xlsx, sheet 4
• Table1.xlsx, sheet 5

View BVdb publication page

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Evaluation of Local Rod and Cone Function in Stargardt Disease.

Investigative Ophthalmology & Visual Science

Stingl, Krunoslav K; Hoyng, Carel C; Kempf, Melanie M; Kohl, Susanne S; Jung, Ronja R; Righetti, Giulia G; Kühlewein, Laura L; Pohl, Lisa L; Kortüm, Friederike F; Kelbsch, Carina C; Wilhelm, Barbara B; Peters, Tobias T; Stingl, Katarina K; ,

Publication Date: 2022-03-02

Variant appearance in text: ABCA4: 4234C>T

PubMed Link: 35262734

Variant Present in the following documents:

• Main text
• iovs-63-3-6.pdf

View BVdb publication page

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The Scope of Pathogenic ABCA4 Mutations Targetable by CRISPR DNA Base Editing Systems-A Systematic Review.

Frontiers In Genetics

Piotter, Elena E; McClements, Michelle E ME; MacLaren, Robert E RE

Publication Date: 2021

Variant appearance in text: ABCA4: 4234C>T

PubMed Link: 35154257

Variant Present in the following documents:

• Main text

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: 4234C>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: 4234C>T

PubMed Link: 35119454

Variant Present in the following documents:

• iovs-63-2-11_s003.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: 4234C>T

PubMed Link: 35089312

Variant Present in the following documents:

• Main text
• tvst-11-1-36.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: 4234C>T

PubMed Link: 35089312

Variant Present in the following documents:

• Main text
• tvst-11-1-36.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: 4234C>T; Gln1412Ter; rs61750137

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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Panel-based genetic testing for inherited retinal disease screening 176 genes.

Molecular Genetics & Genomic Medicine

Sheck, Leo H N LHN; Esposti, Simona D SD; Mahroo, Omar A OA; Arno, Gavin G; Pontikos, Nikolas N; Wright, Genevieve G; Webster, Andrew R AR; Khan, Kamron N KN; Michaelides, Michel M

Publication Date: 2021-12

Variant appearance in text: ABCA4: 4234C>T; Gln1412Ter

PubMed Link: 33749171

Variant Present in the following documents:

• MGG3-9-e1663-s001.xlsx, sheet 1

View BVdb publication page

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Panel-based genetic testing for inherited retinal disease screening 176 genes.

Molecular Genetics & Genomic Medicine

Sheck, Leo H N LHN; Esposti, Simona D SD; Mahroo, Omar A OA; Arno, Gavin G; Pontikos, Nikolas N; Wright, Genevieve G; Webster, Andrew R AR; Khan, Kamron N KN; Michaelides, Michel M

Publication Date: 2021-03-22

Variant appearance in text: ABCA4: 4234C>T; Gln1412Ter

PubMed Link: 33749171

Variant Present in the following documents:

• MGG3-9-e1663-s001.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: 4234C>T; Q1412*

PubMed Link: 33505770

Variant Present in the following documents:

• tvst-10-1-3_s002.pdf

View BVdb publication page

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58th Annual Symposium of the International Society for Clinical Electrophysiology of Vision (ISCEV 2020) : 14-16 September 2020.

Documenta Ophthalmologica. Advances In Ophthalmology

Publication Date: 2020-09

Variant appearance in text: ABCA4: Q1412*

PubMed Link: 32915376

Variant Present in the following documents:

• 10633_2020_Article_9789.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: Q1412X

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: 4234C>T; Q1412*

PubMed Link: 32298433

Variant Present in the following documents:

• iovs-61-4-13_s001.pdf

View BVdb publication page

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Genetic Spectrum of ABCA4-Associated Retinal Degeneration in Poland.

Genes

Tracewska, Anna M AM; Kocyła-Karczmarewicz, Beata B; Rafalska, Agnieszka A; Murawska, Joanna J; Jakubaszko-Jablonska, Joanna J; Rydzanicz, Małgorzata M; Stawiński, Piotr P; Ciara, Elżbieta E; Khan, Muhammad Imran MI; Henkes, Arjen A; Hoischen, Alexander A; Gilissen, Christian C; van de Vorst, Maartje M; Cremers, Frans P M FPM; Płoski, Rafał R; Chrzanowska, Krystyna H KH

Publication Date: 2019-11-21

Variant appearance in text: ABCA4: 4234C>T

PubMed Link: 31766579

Variant Present in the following documents:

• Main text
• genes-10-00959.pdf

View BVdb publication page

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Phenotype Analysis of Retinal Dystrophies in Light of the Underlying Genetic Defects: Application to Cone and Cone-Rod Dystrophies.

International Journal Of Molecular Sciences

Boulanger-Scemama, Elise E; Mohand-Saïd, Saddek S; El Shamieh, Said S; Démontant, Vanessa V; Condroyer, Christel C; Antonio, Aline A; Michiels, Christelle C; Boyard, Fiona F; Saraiva, Jean-Paul JP; Letexier, Mélanie M; Sahel, José-Alain JA; Zeitz, Christina C; Audo, Isabelle I

Publication Date: 2019-09-30

Variant appearance in text: ABCA4: 4234C>T; Q1412*; rs61750137

PubMed Link: 31574917

Variant Present in the following documents:

• Main text

View BVdb publication page

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Correlation between Choriocapillaris Density and Retinal Sensitivity in Stargardt Disease.

Journal Of Clinical Medicine

Mastropasqua, Rodolfo R; Senatore, Alfonso A; Di Antonio, Luca L; Di Nicola, Marta M; Marchioni, Michele M; Perna, Fabiana F; Amore, Filippo F; Borrelli, Enrico E; De Nicola, Chiara C; Carpineto, Paolo P; Toto, Lisa L

Publication Date: 2019-09-10

Variant appearance in text: ABCA4: 4234C>T

PubMed Link: 31510083

Variant Present in the following documents:

• Main text
• jcm-08-01432.pdf

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: Q1412*

PubMed Link: 31015497

Variant Present in the following documents:

• Main text
• 41598_2019_Article_42772.pdf

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: 4234C>T

PubMed Link: 30771335

Variant Present in the following documents:

• Main text

View BVdb publication page

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CLINICAL CHARACTERIZATION OF STARGARDT DISEASE PATIENTS WITH THE p.N1868I ABCA4 MUTATION.

Retina (Philadelphia, Pa.)

Collison, Frederick T FT; Lee, Winston W; Fishman, Gerald A GA; Park, Jason C JC; Zernant, Jana J; McAnany, J Jason JJ; Allikmets, Rando R

Publication Date: 2019-12

Variant appearance in text: ABCA4: 4234C>T

PubMed Link: 30204727

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: 4234C>T

PubMed Link: 29925512

Variant Present in the following documents:

• bjophthalmol-2018-312064supp004.pdf

View BVdb publication page

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Mutation Spectrum of the ABCA4 Gene in a Greek Cohort with Stargardt Disease: Identification of Novel Mutations and Evidence of Three Prevalent Mutated Alleles.

Journal Of Ophthalmology

Smaragda, Kamakari K; Vassiliki, Kokkinou K; George, Koutsodontis K; Polixeni, Stamatiou S; Christoforos, Giatzakis G; Anastasios, Anastasakis A; Minas, Aslanides Ioannis AI; Stavrenia, Koukoula K; Theoni, Panagiotoglou P; Ioannis, Datseris D; Miltiadis, Tsilimbaris K TK

Publication Date: 2018

Variant appearance in text: STGD1: 4234C>T

PubMed Link: 29854428

Variant Present in the following documents:

• Main text
• JOPH2018-5706142.pdf

View BVdb publication page

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Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy.

Scientific Reports

Birtel, Johannes J; Eisenberger, Tobias T; Gliem, Martin M; Müller, Philipp L PL; Herrmann, Philipp P; Betz, Christian C; Zahnleiter, Diana D; Neuhaus, Christine C; Lenzner, Steffen S; Holz, Frank G FG; Mangold, Elisabeth E; Bolz, Hanno J HJ; Charbel Issa, Peter P

Publication Date: 2018-03-19

Variant appearance in text: ABCA4: 4234C>T

PubMed Link: 29555955

Variant Present in the following documents:

• 41598_2018_22096_MOESM1_ESM.pdf

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: Q1412*

PubMed Link: 29049723

Variant Present in the following documents:

• i1552-5783-58-12-5227.pdf

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: 4234C>T

PubMed Link: 28446513

Variant Present in the following documents:

• Main text

View BVdb publication page

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Multimodal analysis of the Preferred Retinal Location and the Transition Zone in patients with Stargardt Disease.

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

Verdina, Tommaso T; Greenstein, Vivienne C VC; Sodi, Andrea A; Tsang, Stephen H SH; Burke, Tomas R TR; Passerini, Ilaria I; Allikmets, Rando R; Virgili, Gianni G; Cavallini, Gian Maria GM; Rizzo, Stanislao S

Publication Date: 2017-07

Variant appearance in text: ABCA4: 4234C>T

PubMed Link: 28365912

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: 4234C>T

PubMed Link: 28118664

Variant Present in the following documents:

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

View BVdb publication page

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Panel-based NGS Reveals Novel Pathogenic Mutations in Autosomal Recessive Retinitis Pigmentosa.

Scientific Reports

Perez-Carro, Raquel R; Corton, Marta M; Sánchez-Navarro, Iker I; Zurita, Olga O; Sanchez-Bolivar, Noelia N; Sánchez-Alcudia, Rocío R; Lelieveld, Stefan H SH; Aller, Elena E; Lopez-Martinez, Miguel Angel MA; López-Molina, Ma Isabel MI; Fernandez-San Jose, Patricia P; Blanco-Kelly, Fiona F; Riveiro-Alvarez, Rosa R; Gilissen, Christian C; Millan, Jose M JM; Avila-Fernandez, Almudena A; Ayuso, Carmen C

Publication Date: 2016-01-25

Variant appearance in text: ABCA4: Gln1412*

PubMed Link: 26806561

Variant Present in the following documents:

• Main text
• srep19531.pdf

View BVdb publication page

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Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation.

Orphanet Journal Of Rare Diseases

Boulanger-Scemama, Elise E; El Shamieh, Said S; Démontant, Vanessa V; Condroyer, Christel C; Antonio, Aline A; Michiels, Christelle C; Boyard, Fiona F; Saraiva, Jean-Paul JP; Letexier, Mélanie M; Souied, Eric E; Mohand-Saïd, Saddek S; Sahel, José-Alain JA; Zeitz, Christina C; Audo, Isabelle I

Publication Date: 2015-06-24

Variant appearance in text: ABCA4: 4234C>T; rs61750137

PubMed Link: 26103963

Variant Present in the following documents:

• Main text
• 13023_2015_Article_300.pdf

View BVdb publication page

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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: Q1412*

PubMed Link: 25342616

Variant Present in the following documents:

• Main text

View BVdb publication page

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Quantitative fundus autofluorescence distinguishes ABCA4-associated and non-ABCA4-associated bull's-eye maculopathy.

Ophthalmology

Duncker, Tobias T; Tsang, Stephen H SH; Lee, Winston W; Zernant, Jana J; Allikmets, Rando R; Delori, François C FC; Sparrow, Janet R JR

Publication Date: 2015-02

Variant appearance in text: ABCA4: Q1412*

PubMed Link: 25283059

Variant Present in the following documents:

• Main text

View BVdb publication page

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The external limiting membrane in early-onset Stargardt disease.

Investigative Ophthalmology & Visual Science

Lee, Winston W; Nõupuu, Kalev K; Oll, Maris M; Duncker, Tobias T; Burke, Tomas T; Zernant, Jana J; Bearelly, Srilaxmi S; Tsang, Stephen H SH; Sparrow, Janet R JR; Allikmets, Rando R

Publication Date: 2014-08-19

Variant appearance in text: ABCA4: Q1412*

PubMed Link: 25139735

Variant Present in the following documents:

• Main text

View BVdb publication page

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Generalized choriocapillaris dystrophy, a distinct phenotype in the spectrum of ABCA4-associated retinopathies.

Investigative Ophthalmology & Visual Science

Bertelsen, Mette M; Zernant, Jana J; Larsen, Michael M; Duno, Morten M; Allikmets, Rando R; Rosenberg, Thomas T

Publication Date: 2014-04-29

Variant appearance in text: ABCA4: 4234C>T; Q1412*

PubMed Link: 24713488

Variant Present in the following documents:

• Main text

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: Q1412*

PubMed Link: 24677105

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: 4234C>T; Q1412*; rs61750137

PubMed Link: 23982839

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: STGD: 4234C>T

PubMed Link: 23755871

Variant Present in the following documents:

• Main text

View BVdb publication page

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ABCA4 gene analysis in patients with autosomal recessive cone and cone rod dystrophies.

European Journal Of Human Genetics : Ejhg

Kitiratschky, Veronique B D VB; Grau, Tanja T; Bernd, Antje A; Zrenner, Eberhart E; Jägle, Herbert H; Renner, Agnes B AB; Kellner, Ulrich U; Rudolph, Günther G; Jacobson, Samuel G SG; Cideciyan, Artur V AV; Schaich, Simone S; Kohl, Susanne S; Wissinger, Bernd B

Publication Date: 2008-07

Variant appearance in text: ABCA4: 4234C>T; Q1412X

PubMed Link: 18285826

Variant Present in the following documents:

• Main text

View BVdb publication page

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A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular degeneration.

American Journal Of Human Genetics

Rivera, A A; White, K K; Stöhr, H H; Steiner, K K; Hemmrich, N N; Grimm, T T; Jurklies, B B; Lorenz, B B; Scholl, H P HP; Apfelstedt-Sylla, E E; Weber, B H BH

Publication Date: 2000-10

Variant appearance in text: STGD: Q1412X

PubMed Link: 10958763

Variant Present in the following documents:

• Main text

View BVdb publication page

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