Publications:

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Efficient correction of ABCA4 variants by CRISPR-Cas9 in hiPSCs derived from Stargardt disease patients.

Molecular Therapy. Nucleic Acids

Siles, Laura L; Ruiz-Nogales, Sheila S; Navinés-Ferrer, Arnau A; Méndez-Vendrell, Pilar P; Pomares, Esther E

Publication Date: 2023-06-13

Variant appearance in text: ABCA4: 514G>A; rs61748532

PubMed Link: 36969552

Variant Present in the following documents:

• Main text
• mmc2.pdf
• main.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: 514G>A; Gly172Ser

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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Multimodal Study of PRPH2 Gene-Related Retinal Phenotypes.

Diagnostics (Basel, Switzerland)

Antonelli, Giulio G; Parravano, Mariacristina M; Barbano, Lucilla L; Costanzo, Eliana E; Bertelli, Matteo M; Medori, Maria Chiara MC; Parisi, Vincenzo V; Ziccardi, Lucia L

Publication Date: 2022-07-31

Variant appearance in text: ABCA4: 514G>A; Gly172Ser; rs61748532

PubMed Link: 36010202

Variant Present in the following documents:

• diagnostics-12-01851.pdf

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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: 514G>A; Gly172Ser; rs61748532

PubMed Link: 35260635

Variant Present in the following documents:

• 41598_2022_7618_MOESM1_ESM.pdf

View BVdb publication page

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Choroidal Caverns in Stargardt Disease.

Investigative Ophthalmology & Visual Science

Mucciolo, Dario Pasquale DP; Giorgio, Dario D; Lippera, Myrta M; Dattilo, Valeria V; Passerini, Ilaria I; Pelo, Elisabetta E; Sodi, Andrea A; Virgili, Gianni G; Giansanti, Fabrizio F; Murro, Vittoria V

Publication Date: 2022-02-01

Variant appearance in text: ABCA4: 514G>A

PubMed Link: 35156991

Variant Present in the following documents:

• iovs-63-2-25.pdf

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Variant Selection and Interpretation: An Example of Modified VarSome Classifier of ACMG Guidelines in the Diagnostic Setting.

Genes

Cristofoli, Francesca F; Sorrentino, Elisa E; Guerri, Giulia G; Miotto, Roberta R; Romanelli, Roberta R; Zulian, Alessandra A; Cecchin, Stefano S; Paolacci, Stefano S; Miertus, Jan J; Bertelli, Matteo M; Maltese, Paolo Enrico PE; Chiurazzi, Pietro P; Stuppia, Liborio L; Castori, Marco M; Marceddu, Giuseppe G

Publication Date: 2021-11-25

Variant appearance in text: ABCA4: 514G>A; Gly172Ser

PubMed Link: 34946832

Variant Present in the following documents:

• Main text
• genes-12-01885.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: 514G>A

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: 514G>A

PubMed Link: 34945039

Variant Present in the following documents:

• Main text

View BVdb publication page

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Long-Range PCR-Based NGS Applications to Diagnose Mendelian Retinal Diseases.

International Journal Of Molecular Sciences

Maggi, Jordi J; Koller, Samuel S; Bähr, Luzy L; Feil, Silke S; Kivrak Pfiffner, Fatma F; Hanson, James V M JVM; Maspoli, Alessandro A; Gerth-Kahlert, Christina C; Berger, Wolfgang W

Publication Date: 2021-02-03

Variant appearance in text: ABCA4: 514G>A

PubMed Link: 33546218

Variant Present in the following documents:

• Main text
• ijms-22-01508.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: G172S

PubMed Link: 32884132

Variant Present in the following documents:

• NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 6
• NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 7

View BVdb publication page

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mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports

Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM

Publication Date: 2020-06-23

Variant appearance in text: ABCA4: G172S

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

View BVdb publication page

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Comprehensive genomic diagnosis of inherited retinal and optical nerve disorders reveals hidden syndromes and personalized therapeutic options.

Acta Ophthalmologica

Diñeiro, Marta M; Capín, Raquel R; Cifuentes, Guadalupe Á GÁ; Fernández-Vega, Beatriz B; Villota, Eva E; Otero, Andrea A; Santiago, Adrián A; Pruneda, Patricia C PC; Castillo, David D; Viejo-Díaz, Mónica M; Hernando, Inés I; Durán, Noelia S NS; Álvarez, Rebeca R; Lago, Claudia G CG; Ordóñez, Gonzalo R GR; Fernández-Vega, Álvaro Á; Cabanillas, Rubén R; Cadiñanos, Juan J

Publication Date: 2020-12

Variant appearance in text: ABCA4: 514G>A; Gly172Ser

PubMed Link: 32483926

Variant Present in the following documents:

• AOS-98-e1034-s012.xlsx, sheet 1

View BVdb publication page

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Generation of two iPS cell lines (FRIMOi003-A and FRIMOi004-A) derived from Stargardt patients carrying ABCA4 compound heterozygous mutations.

Stem Cell Research

Riera, Marina M; Patel, Achchhe A; Burés-Jelstrup, Anniken A; Corcostegui, Borja B; Chang, Stanley S; Pomares, Esther E; Corneo, Barbara B; Sparrow, Janet R JR

Publication Date: 2019-04

Variant appearance in text: ABCA4: 514G>A

PubMed Link: 30798147

Variant Present in the following documents:

• Main text
• nihms-1040295.pdf

View BVdb publication page

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Genetic screening for macular dystrophies in patients clinically diagnosed with dry age-related macular degeneration.

Clinical Genetics

Kersten, Eveline E; Geerlings, Maartje J MJ; Pauper, Marc M; Corominas, Jordi J; Bakker, Bjorn B; Altay, Lebriz L; Fauser, Sascha S; de Jong, Eiko K EK; Hoyng, Carel B CB; den Hollander, Anneke I AI

Publication Date: 2018-12

Variant appearance in text: ABCA4: 514G>A; G172S

PubMed Link: 30215852

Variant Present in the following documents:

• CGE-94-569-s003.xlsx, sheet 1

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: 514G>A

PubMed Link: 28365912

Variant Present in the following documents:

• Main text

View BVdb publication page

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Whole exome sequencing using Ion Proton system enables reliable genetic diagnosis of inherited retinal dystrophies.

Scientific Reports

Riera, Marina M; Navarro, Rafael R; Ruiz-Nogales, Sheila S; Méndez, Pilar P; Burés-Jelstrup, Anniken A; Corcóstegui, Borja B; Pomares, Esther E

Publication Date: 2017-02-09

Variant appearance in text: ABCA4: 514G>A

PubMed Link: 28181551

Variant Present in the following documents:

• Main text
• srep42078.pdf

View BVdb publication page

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Genomic Correlates of Immune-Cell Infiltrates in Colorectal Carcinoma.

Cell Reports

Giannakis, Marios M; Mu, Xinmeng Jasmine XJ; Shukla, Sachet A SA; Qian, Zhi Rong ZR; Cohen, Ofir O; Nishihara, Reiko R; Bahl, Samira S; Cao, Yin Y; Amin-Mansour, Ali A; Yamauchi, Mai M; Sukawa, Yasutaka Y; Stewart, Chip C; Rosenberg, Mara M; Mima, Kosuke K; Inamura, Kentaro K; Nosho, Katsuhiko K; Nowak, Jonathan A JA; Lawrence, Michael S MS; Giovannucci, Edward L EL; Chan, Andrew T AT; Ng, Kimmie K; Meyerhardt, Jeffrey A JA; Van Allen, Eliezer M EM; Getz, Gad G; Gabriel, Stacey B SB; Lander, Eric S ES; Wu, Catherine J CJ; Fuchs, Charles S CS; Ogino, Shuji S; Garraway, Levi A LA

Publication Date: 2016-04-26

Variant appearance in text: ABCA4: G172S

PubMed Link: 27149842

Variant Present in the following documents:

• mmc2.xlsx, sheet 4

View BVdb publication page

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Identification of Novel Mutations in ABCA4 Gene: Clinical and Genetic Analysis of Indian Patients with Stargardt Disease.

Biomed Research International

Battu, Rajani R; Verma, Anshuman A; Hariharan, Ramesh R; Krishna, Shuba S; Kiran, Ravi R; Jacob, Jemima J; Ganapathy, Aparna A; Ramprasad, Vedam L VL; Kumaramanickavel, Govindasamy G; Jeyabalan, Nallathambi N; Ghosh, Arkasubhra A

Publication Date: 2015

Variant appearance in text: STGD: 514G>A

PubMed Link: 25922843

Variant Present in the following documents:

• Main text
• BMRI2015-940864.pdf

View BVdb publication page

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Population genomic analysis of 962 whole genome sequences of humans reveals natural selection in non-coding regions.

Plos One

Yu, Fuli F; Lu, Jian J; Liu, Xiaoming X; Gazave, Elodie E; Chang, Diana D; Raj, Srilakshmi S; Hunter-Zinck, Haley H; Blekhman, Ran R; Arbiza, Leonardo L; Van Hout, Cris C; Morrison, Alanna A; Johnson, Andrew D AD; Bis, Joshua J; Cupples, L Adrienne LA; Psaty, Bruce M BM; Muzny, Donna D; Yu, Jin J; Gibbs, Richard A RA; Keinan, Alon A; Clark, Andrew G AG; Boerwinkle, Eric E

Publication Date: 2015

Variant appearance in text: rs61748532

PubMed Link: 25807536

Variant Present in the following documents:

• pone.0121644.s002.xls, sheet 1

View BVdb publication page

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The genome of a Mongolian individual reveals the genetic imprints of Mongolians on modern human populations.

Genome Biology And Evolution

Bai, Haihua H; Guo, Xiaosen X; Zhang, Dong D; Narisu, Narisu N; Bu, Junjie J; Jirimutu, Jirimutu J; Liang, Fan F; Zhao, Xiang X; Xing, Yanping Y; Wang, Dingzhu D; Li, Tongda T; Zhang, Yanru Y; Guan, Baozhu B; Yang, Xukui X; Yang, Zili Z; Shuangshan, Shuangshan S; Su, Zhe Z; Wu, Huiguang H; Li, Wenjing W; Chen, Ming M; Zhu, Shilin S; Bayinnamula, Bayinnamula B; Chang, Yuqi Y; Gao, Ying Y; Lan, Tianming T; Suyalatu, Suyalatu S; Huang, Hui H; Su, Yan Y; Chen, Yujie Y; Li, Wenqi W; Yang, Xu X; Feng, Qiang Q; Wang, Jian J; Yang, Huanming H; Wang, Jun J; Wu, Qizhu Q; Yin, Ye Y; Zhou, Huanmin H

Publication Date: 2014-11-05

Variant appearance in text: ABCA4: 514G>A; Gly172Arg

PubMed Link: 25377941

Variant Present in the following documents:

• evu242.pdf

View BVdb publication page

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

Molecular Vision

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

Publication Date: 2012

Variant appearance in text: ABCR: Gly172Ser

PubMed Link: 22328824

Variant Present in the following documents:

• Main text
• mv-v18-280.pdf

View BVdb publication page

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