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: 3113C>T; Ala1038Val

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: 3113C>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: Ala1038Val

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: 3113C>T

PubMed Link: 36460718

Variant Present in the following documents:

• Main text
• 41598_2022_24636_MOESM2_ESM.xlsx, sheet 1
• 41598_2022_Article_24636.pdf

View BVdb publication page

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A Rare Occurrence of Stargardt Disease in a Quadragenarian Adult.

Cureus

Maheshwari, Saket Y SY; Chakole, Swarupa S

Publication Date: 2022-10

Variant appearance in text: ABCA4: Ala1038Val

PubMed Link: 36457622

Variant Present in the following documents:

• Main text
• cureus-0014-00000030859.pdf

View BVdb publication page

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Common and rare variants in patients with early onset drusen maculopathy.

Clinical Genetics

de Breuk, Anita A; Lechanteur, Yara T E YTE; Astuti, Galuh G; Galbany, Jordi Corominas JC; Klaver, Caroline C W CCW; Hoyng, Carel B CB; den Hollander, Anneke I AI

Publication Date: 2022-11

Variant appearance in text: ABCA4: 3113C>T; Ala1038Val

PubMed Link: 36053979

Variant Present in the following documents:

• CGE-102-414-s007.xlsx, sheet 1

View BVdb publication page

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Aggregated Genomic Data as Cohort-Specific Allelic Frequencies can Boost Variants and Genes Prioritization in Non-Solved Cases of Inherited Retinal Dystrophies.

International Journal Of Molecular Sciences

Iancu, Ionut-Florin IF; Perea-Romero, Irene I; Núñez-Moreno, Gonzalo G; de la Fuente, Lorena L; Romero, Raquel R; Ávila-Fernandez, Almudena A; Trujillo-Tiebas, María José MJ; Riveiro-Álvarez, Rosa R; Almoguera, Berta B; Martín-Mérida, Inmaculada I; Del Pozo-Valero, Marta M; Damián-Verde, Alejandra A; Cortón, Marta M; Ayuso, Carmen C; Minguez, Pablo P

Publication Date: 2022-07-29

Variant appearance in text: ABCA4: 3113C>T

PubMed Link: 35955564

Variant Present in the following documents:

• Main text
• ijms-23-08431.pdf

View BVdb publication page

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Amplification of CDK4 and MDM2: a detailed study of a high-risk neuroblastoma subgroup.

Scientific Reports

Martinez-Monleon, Angela A; Kryh Öberg, Hanna H; Gaarder, Jennie J; Berbegall, Ana P AP; Javanmardi, Niloufar N; Djos, Anna A; Ussowicz, Marek M; Taschner-Mandl, Sabine S; Ambros, Inge M IM; Øra, Ingrid I; Sandstedt, Bengt B; Beiske, Klaus K; Ladenstein, Ruth R; Noguera, Rosa R; Ambros, Peter F PF; Gordon Murkes, Lena L; Ljungman, Gustaf G; Kogner, Per P; Fransson, Susanne S; Martinsson, Tommy T

Publication Date: 2022-07-20

Variant appearance in text: ABCA4: 3113C>T; A1038V

PubMed Link: 35859155

Variant Present in the following documents:

• 41598_2022_16455_MOESM2_ESM.xlsx, sheet 4

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: 3113C>T; Ala1038Val; rs61751374

PubMed Link: 35836572

Variant Present in the following documents:

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

View BVdb publication page

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Genomic, transcriptomic, and metabolomic profiles of hiPSC-derived dopamine neurons from clinically discordant brothers with identical PRKN deletions.

Npj Parkinson'S Disease

Cukier, Holly N HN; Kim, Hyunjin H; Griswold, Anthony J AJ; Codreanu, Simona G SG; Prince, Lisa M LM; Sherrod, Stacy D SD; McLean, John A JA; Dykxhoorn, Derek M DM; Ess, Kevin C KC; Hedera, Peter P; Bowman, Aaron B AB; Neely, M Diana MD

Publication Date: 2022-06-29

Variant appearance in text: ABCA4: A1038V; rs61751374

PubMed Link: 35768426

Variant Present in the following documents:

• 41531_2022_346_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Assessing Variant Causality and Severity Using Retinal Pigment Epithelial Cells Derived from Stargardt Disease Patients.

Translational Vision Science & Technology

Matynia, Anna A; Wang, Jun J; Kim, Sangbae S; Li, Yumei Y; Dimashkie, Anupama A; Jiang, Zhichun Z; Hu, Jane J; Strom, Samuel P SP; Radu, Roxana A RA; Chen, Rui R; Gorin, Michael B MB

Publication Date: 2022-03-02

Variant appearance in text: ABCA4: A1038V

PubMed Link: 35348597

Variant Present in the following documents:

• Main text
• tvst-11-3-33.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: Ala1038Val

PubMed Link: 35260635

Variant Present in the following documents:

• 41598_2022_Article_7618.pdf
• 41598_2022_7618_MOESM1_ESM.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: 3113C>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: 3113C>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: 3113C>T

PubMed Link: 35119454

Variant Present in the following documents:

• iovs-63-2-11_s003.pdf

View BVdb publication page

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Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience

Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD

Publication Date: 2022-02

Variant appearance in text: ABCA4: A1038V; rs61751374

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7

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: Ala1038Val

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: Ala1038Val

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: 3113C>T

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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Genotype-Specific Lesion Growth Rates in Stargardt Disease.

Genes

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

Publication Date: 2021-12-14

Variant appearance in text: ABCA4: 3113C>T

PubMed Link: 34946930

Variant Present in the following documents:

• Main text
• genes-12-01981.pdf

View BVdb publication page

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Genotype-Specific Lesion Growth Rates in Stargardt Disease.

Genes

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

Publication Date: 2021-12-14

Variant appearance in text: ABCA4: 3113C>T

PubMed Link: 34946930

Variant Present in the following documents:

• Main text
• genes-12-01981.pdf

View BVdb publication page

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Deep Learning to Distinguish ABCA4-Related Stargardt Disease from PRPH2-Related Pseudo-Stargardt Pattern Dystrophy.

Journal Of Clinical Medicine

Miere, Alexandra A; Zambrowski, Olivia O; Kessler, Arthur A; Mehanna, Carl-Joe CJ; Pallone, Carlotta C; Seknazi, Daniel D; Denys, Paul P; Amoroso, Francesca F; Petit, Eric E; Souied, Eric H EH

Publication Date: 2021-12-08

Variant appearance in text: ABCA4: 3113C>T

PubMed Link: 34945039

Variant Present in the following documents:

• Main text

View BVdb publication page

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Deep Learning to Distinguish ABCA4-Related Stargardt Disease from PRPH2-Related Pseudo-Stargardt Pattern Dystrophy.

Journal Of Clinical Medicine

Miere, Alexandra A; Zambrowski, Olivia O; Kessler, Arthur A; Mehanna, Carl-Joe CJ; Pallone, Carlotta C; Seknazi, Daniel D; Denys, Paul P; Amoroso, Francesca F; Petit, Eric E; Souied, Eric H EH

Publication Date: 2021-12-08

Variant appearance in text: ABCA4: 3113C>T

PubMed Link: 34945039

Variant Present in the following documents:

• Main text

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: A1038V

PubMed Link: 34874912

Variant Present in the following documents:

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

View BVdb publication page

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Perifoveal Cone- and Rod-Mediated Temporal Contrast Sensitivities in Stargardt Disease/Fundus Flavimaculatus.

Investigative Ophthalmology & Visual Science

Fars, Julien J; Pasutto, Francesca F; Kremers, Jan J; Huchzermeyer, Cord C

Publication Date: 2021-11-01

Variant appearance in text: STGD1: 3113C>T; rs61751374

PubMed Link: 34807235

Variant Present in the following documents:

• Main text
• iovs-62-14-24.pdf

View BVdb publication page

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Evaluating the Occurrence of Rare Variants in the Complement Factor H Gene in Patients With Early-Onset Drusen Maculopathy.

Jama Ophthalmology

de Breuk, Anita A; Heesterbeek, Thomas J TJ; Bakker, Bjorn B; Verzijden, Timo T; Lechanteur, Yara T E YTE; Klaver, Caroline C W CCW; den Hollander, Anneke I AI; Hoyng, Carel B CB

Publication Date: 2021-11-01

Variant appearance in text: ABCA4: Ala1038Val

PubMed Link: 34647987

Variant Present in the following documents:

• Main text

View BVdb publication page

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High-Throughput Sequencing to Identify Mutations Associated with Retinal Dystrophies.

Genes

Song, Fei F; Owczarek-Lipska, Marta M; Ahmels, Tim T; Book, Marius M; Aisenbrey, Sabine S; Menghini, Moreno M; Barthelmes, Daniel D; Schrader, Stefan S; Spital, Georg G; Neidhardt, John J

Publication Date: 2021-08-20

Variant appearance in text: ABCA4: 3113C>T

PubMed Link: 34440443

Variant Present in the following documents:

• Main text

View BVdb publication page

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An Overview of the Genetics of ABCA4 Retinopathies, an Evolving Story.

Genes

Al-Khuzaei, Saoud S; Broadgate, Suzanne S; Foster, Charlotte R CR; Shah, Mital M; Yu, Jing J; Downes, Susan M SM; Halford, Stephanie S

Publication Date: 2021-08-13

Variant appearance in text: ABCA4: Ala1038Val

PubMed Link: 34440414

Variant Present in the following documents:

• Main text

View BVdb publication page

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Therapy Approaches for Stargardt Disease.

Biomolecules

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

Publication Date: 2021-08-09

Variant appearance in text: STGD1: Ala1038Val

PubMed Link: 34439845

Variant Present in the following documents:

• Main text
• biomolecules-11-01179.pdf

View BVdb publication page

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Updating the Genetic Landscape of Inherited Retinal Dystrophies.

Frontiers In Cell And Developmental Biology

García Bohórquez, Belén B; Aller, Elena E; Rodríguez Muñoz, Ana A; Jaijo, Teresa T; García García, Gema G; Millán, José M JM

Publication Date: 2021

Variant appearance in text: ABCA4: 3113C>T

PubMed Link: 34327195

Variant Present in the following documents:

• Main text

View BVdb publication page

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Non-syndromic inherited retinal diseases in Poland: Genes, mutations, and phenotypes.

Molecular Vision

Tracewska, Anna M AM; Kocyła-Karczmarewicz, Beata B; Rafalska, Agnieszka A; Murawska, Joanna J; Jakubaszko-Jabłónska, Joanna J; Rydzanicz, Małgorzata M; Stawiński, Piotr P; Ciara, Elżbieta E; Lipska-Ziętkiewicz, Beata S BS; Khan, Muhammad Imran MI; Cremers, Frans P M FPM; Płoski, Rafał R; Chrzanowska, Krystyna H KH

Publication Date: 2021

Variant appearance in text: ABCA4: 3113C>T

PubMed Link: 34321860

Variant Present in the following documents:

• Main text
• mv-v27-457.pdf

View BVdb publication page

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A study of elective genome sequencing and pharmacogenetic testing in an unselected population.

Molecular Genetics & Genomic Medicine

Cochran, Meagan M; East, Kelly K; Greve, Veronica V; Kelly, Melissa M; Kelley, Whitley W; Moore, Troy T; Myers, Richard M RM; Odom, Katherine K; Schroeder, Molly C MC; Bick, David D

Publication Date: 2021-09

Variant appearance in text: ABCA4: 3113C>T; Ala1038Val

PubMed Link: 34313030

Variant Present in the following documents:

• Main text

View BVdb publication page

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A study of elective genome sequencing and pharmacogenetic testing in an unselected population.

Molecular Genetics & Genomic Medicine

Cochran, Meagan M; East, Kelly K; Greve, Veronica V; Kelly, Melissa M; Kelley, Whitley W; Moore, Troy T; Myers, Richard M RM; Odom, Katherine K; Schroeder, Molly C MC; Bick, David D

Publication Date: 2021-09

Variant appearance in text: ABCA4: 3113C>T; Ala1038Val

PubMed Link: 34313030

Variant Present in the following documents:

• Main text

View BVdb publication page

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Absence of Genotype/Phenotype Correlations Requires Molecular Diagnostic to Ascertain Stargardt and Stargardt-Like Swiss Patients.

Genes

Buhler, Virginie M M VMM; Berger, Lieselotte L; Schaller, André A; Zinkernagel, Martin S MS; Wolf, Sebastian S; Escher, Pascal P

Publication Date: 2021-05-26

Variant appearance in text: ABCA4: 3113C>T

PubMed Link: 34073554

Variant Present in the following documents:

• Main text

View BVdb publication page

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Stargardt disease: Multimodal imaging: A review.

Clinical & Experimental Ophthalmology

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

Publication Date: 2021-07

Variant appearance in text: ABCA4: 3113C>T

PubMed Link: 34013643

Variant Present in the following documents:

• Main text

View BVdb publication page

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Molecular genetics of inherited retinal degenerations in Icelandic patients.

Clinical Genetics

Thorsteinsson, Daniel A DA; Stefansdottir, Vigdis V; Eysteinsson, Thor T; Thorisdottir, Sigridur S; Jonsson, Jon J JJ

Publication Date: 2021-08

Variant appearance in text: ABCA4: 3113C>T; Ala1038Val

PubMed Link: 33851411

Variant Present in the following documents:

• Main text
• CGE-100-156.pdf

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: Ala1038Val

PubMed Link: 33841504

Variant Present in the following documents:

• Main text
• Data_Sheet_2.xlsx, sheet 3

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: 3113C>T; Ala1038Val

PubMed Link: 33749171

Variant Present in the following documents:

• MGG3-9-e1663-s001.xlsx, sheet 1

View BVdb publication page

---

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: 3113C>T; Ala1038Val

PubMed Link: 33749171

Variant Present in the following documents:

• MGG3-9-e1663-s001.xlsx, sheet 1

View BVdb publication page

---

Analysis of Pathogenic Variants Correctable With CRISPR Base Editing Among Patients With Recessive Inherited Retinal Degeneration.

Jama Ophthalmology

Fry, Lewis E LE; McClements, Michelle E ME; MacLaren, Robert E RE

Publication Date: 2021-03-01

Variant appearance in text: ABCA4: 3113C>T

PubMed Link: 33507217

Variant Present in the following documents:

• Main text

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: 3113C>T; A1038V

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: 3113C>T

PubMed Link: 33185728

Variant Present in the following documents:

• Main text

View BVdb publication page

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Novel variants of ABCA4 in Han Chinese families with Stargardt disease.

Bmc Medical Genetics

Hu, Fang-Yuan FY; Gao, Feng-Juan FJ; Li, Jian-Kang JK; Xu, Ping P; Wang, Dan-Dan DD; Zhang, Sheng-Hai SH; Wu, Ji-Hong JH

Publication Date: 2020-10-31

Variant appearance in text: STGD1: Ala1038Val

PubMed Link: 33129279

Variant Present in the following documents:

• Main text
• 12881_2020_Article_1152.pdf

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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: 3113C>T

PubMed Link: 33020556

Variant Present in the following documents:

• Main text

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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: A1038V

PubMed Link: 32915376

Variant Present in the following documents:

• 10633_2020_Article_9789.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: A1038V

PubMed Link: 32884132

Variant Present in the following documents:

• NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 6

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Association of Sex With Frequent and Mild ABCA4 Alleles in Stargardt Disease.

Jama Ophthalmology

Runhart, Esmee H EH; Khan, Mubeen M; Cornelis, Stéphanie S SS; Roosing, Susanne S; Del Pozo-Valero, Marta M; Lamey, Tina M TM; Liskova, Petra P; Roberts, Lisa L; Stöhr, Heidi H; Klaver, Caroline C W CCW; Hoyng, Carel B CB; Cremers, Frans P M FPM; Dhaenens, Claire-Marie CM; ,

Publication Date: 2020-10-01

Variant appearance in text: ABCA4: 3113C>T

PubMed Link: 32815999

Variant Present in the following documents:

• Main text

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The genetic landscape of inherited eye disorders in 74 consecutive families from the United Arab Emirates.

American Journal Of Medical Genetics. Part C, Seminars In Medical Genetics

Méjécase, Cécile C; Kozak, Igor I; Moosajee, Mariya M

Publication Date: 2020-09

Variant appearance in text: ABCA4: 3113C>T; Ala1038Val

PubMed Link: 32783370

Variant Present in the following documents:

• Main text
• AJMG-184-762.pdf

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Molecular Analysis of the ABCA4 Gene Mutations in Patients with Stargardt Disease Using Human Hair Follicles.

International Journal Of Molecular Sciences

Ścieżyńska, Aneta A; Soszyńska, Marta M; Komorowski, Michał M; Podgórska, Anna A; Krześniak, Natalia N; Nogowska, Aleksandra A; Smolińska, Martyna M; Szulborski, Kamil K; Szaflik, Jacek P JP; Noszczyk, Bartłomiej B; Ołdak, Monika M; Malejczyk, Jacek J

Publication Date: 2020-05-13

Variant appearance in text: ABCA4: Ala1038Val

PubMed Link: 32413971

Variant Present in the following documents:

• Main text

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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: 3113C>T

PubMed Link: 32278709

Variant Present in the following documents:

• Main text
• nihms-1627942.pdf

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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: 3113C>T; Ala1038Val

PubMed Link: 32037395

Variant Present in the following documents:

• 41436_2020_759_MOESM2_ESM.xlsx, sheet 2

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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: 3113C>T; Ala1038Val

PubMed Link: 31980526

Variant Present in the following documents:

• pnas.1909378117.sd01.xlsx, sheet 3

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Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades.

Scientific Reports

Xiang, Jiale J; Yang, Jiyun J; Chen, Lisha L; Chen, Qiang Q; Yang, Haiyan H; Sun, Chengcheng C; Zhou, Qing Q; Peng, Zhiyu Z

Publication Date: 2020-01-15

Variant appearance in text: ABCA4: 3113C>T; Ala1038Val

PubMed Link: 31942019

Variant Present in the following documents:

• 41598_2019_57335_MOESM1_ESM.xlsx, sheet 1

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Monitoring and Management of the Patient with Stargardt Disease.

Clinical Optometry

Cicinelli, Maria Vittoria MV; Battista, Marco M; Starace, Vincenzo V; Battaglia Parodi, Maurizio M; Bandello, Francesco F

Publication Date: 2019

Variant appearance in text: ABCA4: Ala1038Val

PubMed Link: 31819694

Variant Present in the following documents:

• Main text

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Genotypic profile and phenotype correlations of ABCA4-associated retinopathy in Koreans.

Molecular Vision

Joo, Kwangsic K; Seong, Moon-Woo MW; Park, Kyu Hyung KH; Park, Sung Sup SS; Woo, Se Joon SJ

Publication Date: 2019

Variant appearance in text: STGD: Ala1038Val

PubMed Link: 31814693

Variant Present in the following documents:

• Main text

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The GenomeAsia 100K Project enables genetic discoveries across Asia.

Nature

,

Publication Date: 2019-12

Variant appearance in text: ABCA4: 3113C>T; rs61751374

PubMed Link: 31802016

Variant Present in the following documents:

• 41586_2019_1793_MOESM3_ESM.xlsx, sheet 14

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