ABCA4 c.6148G>C ;(p.V2050L)

Variant ID: 1-94467548-C-G

NM_000350.2(ABCA4):c.6148G>C;(p.V2050L)

This variant was identified in 55 publications

View GRCh38 version.




Publications:


The genetic landscape of inherited retinal dystrophies in Arabs.

Bmc Medical Genomics
Jaffal, Lama L; Joumaa, Hawraa H; Noureldine, Jinane J; Banjak, Malak M; Ibrahim, Mariam M; Mrad, Zamzam Z; Salami, Ali A; Shamieh, Said El SE
Publication Date: 2023-05-01

Variant appearance in text: ABCA4: 6148G>C
PubMed Link: 37127645
Variant Present in the following documents:
  • 12920_2023_1518_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



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: 6148G>C; Val2050Leu
PubMed Link: 36969552
Variant Present in the following documents:
  • Main text
  • mmc1.pdf
  • mmc2.pdf
  • main.pdf
View BVdb publication page



Host genetic susceptibility underlying SARS-CoV-2-associated Multisystem Inflammatory Syndrome in Brazilian Children.

Molecular Medicine (Cambridge, Mass.)
Santos-Rebouças, Cíntia Barros CB; Piergiorge, Rafael Mina RM; Dos Santos Ferreira, Cristina C; Seixas Zeitel, Raquel de R; Gerber, Alexandra Lehmkuhl AL; Rodrigues, Marta Cristine Felix MCF; Guimarães, Ana Paula de Campos APC; Silva, Rodrigo Moulin RM; Fonseca, Adriana Rodrigues AR; Souza, Rangel Celso RC; de Souza, Ana Tereza Antunes Monteiro ATAM; Rossi, Átila Duque ÁD; Porto, Luís Cristóvão de Moraes Sobrino LCMS; Cardoso, Cynthia Chester CC; de Vasconcelos, Ana Tereza Ribeiro ATR
Publication Date: 2022-12-12

Variant appearance in text: ABCA4: Val2050Leu; rs41292677
PubMed Link: 36510129
Variant Present in the following documents:
  • Main text
  • 10020_2022_Article_583.pdf
View BVdb publication page



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: 6148G>C; Val2050Leu
PubMed Link: 36178783
Variant Present in the following documents:
  • tvst-11-9-34_s002.pdf
View BVdb publication page



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: 6148G>C; Val2050Leu
PubMed Link: 36053979
Variant Present in the following documents:
  • CGE-102-414-s007.xlsx, sheet 1
View BVdb publication page



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: 6148G>C; Val2050Leu; rs41292677
PubMed Link: 36010202
Variant Present in the following documents:
  • diagnostics-12-01851.pdf
View BVdb publication page



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: 6148G>C; Val2050Leu; rs41292677
PubMed Link: 35836572
Variant Present in the following documents:
  • Table1.xlsx, sheet 5
  • Table1.xlsx, sheet 1
View BVdb publication page



Clinical and genetic spectrums of 413 North African families with inherited retinal dystrophies and optic neuropathies.

Orphanet Journal Of Rare Diseases
Bouzidi, Aymane A; Charoute, Hicham H; Charif, Majida M; Amalou, Ghita G; Kandil, Mostafa M; Barakat, Abdelhamid A; Lenaers, Guy G
Publication Date: 2022-05-12

Variant appearance in text: ABCA4: 6148G>C; Val2050Leu
PubMed Link: 35551639
Variant Present in the following documents:
  • 13023_2022_2340_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Unraveling the Genetic Architecture of Hepatoblastoma Risk: Birth Defects and Increased Burden of Germline Damaging Variants in Gastrointestinal/Renal Cancer Predisposition and DNA Repair Genes.

Frontiers In Genetics
Aguiar, Talita T; Teixeira, Anne A; Scliar, Marília O MO; Sobral de Barros, Juliana J; Lemes, Renan B RB; Souza, Silvia S; Tolezano, Giovanna G; Santos, Fernanda F; Tojal, Israel I; Cypriano, Monica M; Caminada de Toledo, Silvia Regina SR; Valadares, Eugênia E; Borges Pinto, Raquel R; Pinto Artigalas, Osvaldo Afonso OA; Caetano de Aguirre Neto, Joaquim J; Novak, Estela E; Cristofani, Lilian Maria LM; Miura Sugayama, Sofia M SM; Odone, Vicente V; Cunha, Isabela Werneck IW; Lima da Costa, Cecilia Maria CM; Rosenberg, Carla C; Krepischi, Ana A
Publication Date: 2022

Variant appearance in text: ABCA4: 6148G>C; rs41292677
PubMed Link: 35495172
Variant Present in the following documents:
  • DataSheet1.xlsx, sheet 3
View BVdb publication page



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: V2050L; rs41292677
PubMed Link: 35115730
Variant Present in the following documents:
  • 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7
View BVdb publication page



Functional assays of non-canonical splice-site variants in inherited retinal dystrophies genes.

Scientific Reports
Rodriguez-Muñoz, Ana A; Liquori, Alessandro A; García-Bohorquez, Belén B; Jaijo, Teresa T; Aller, Elena E; Millán, José M JM; García-García, Gema G
Publication Date: 2022-01-07

Variant appearance in text: ABCA4: 6148G>C
PubMed Link: 34996991
Variant Present in the following documents:
  • Main text
  • 41598_2021_Article_3925.pdf
  • 41598_2021_3925_MOESM1_ESM.pdf
View BVdb publication page



Functional assays of non-canonical splice-site variants in inherited retinal dystrophies genes.

Scientific Reports
Rodriguez-Muñoz, Ana A; Liquori, Alessandro A; García-Bohorquez, Belén B; Jaijo, Teresa T; Aller, Elena E; Millán, José M JM; García-García, Gema G
Publication Date: 2022-01-07

Variant appearance in text: ABCA4: 6148G>C
PubMed Link: 34996991
Variant Present in the following documents:
  • Main text
  • 41598_2021_Article_3925.pdf
  • 41598_2021_3925_MOESM1_ESM.pdf
View BVdb publication page



Whole genome sequencing and in vitro splice assays reveal genetic causes for inherited retinal diseases.

Npj Genomic Medicine
Fadaie, Zeinab Z; Whelan, Laura L; Ben-Yosef, Tamar T; Dockery, Adrian A; Corradi, Zelia Z; Gilissen, Christian C; Haer-Wigman, Lonneke L; Corominas, Jordi J; Astuti, Galuh D N GDN; de Rooij, Laura L; van den Born, L Ingeborgh LI; Klaver, Caroline C W CCW; Hoyng, Carel B CB; Wynne, Niamh N; Duignan, Emma S ES; Kenna, Paul F PF; Cremers, Frans P M FPM; Farrar, G Jane GJ; Roosing, Susanne S
Publication Date: 2021-11-18

Variant appearance in text: ABCA4: 6148G>C
PubMed Link: 34795310
Variant Present in the following documents:
  • 41525_2021_261_MOESM2_ESM.pdf
View BVdb publication page



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: 6148G>C
PubMed Link: 34327195
Variant Present in the following documents:
  • Main text
  • fcell-09-645600.pdf
View BVdb publication page



Clinical and genetic investigations of three Moroccan families with retinitis pigmentosa phenotypes.

Molecular Vision
Bouzidi, Aymane A; Charif, Majida M; Bouzidi, Adil A; Amalou, Ghita G; Kandil, Mostafa M; Barakat, Abdelhamid A; Lenaers, Guy G
Publication Date: 2021

Variant appearance in text: ABCA4: 6148G>C
PubMed Link: 33633436
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: 6148G>C
PubMed Link: 33546218
Variant Present in the following documents:
  • Main text
  • ijms-22-01508.pdf
View BVdb publication page



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: V2050L
PubMed Link: 32884132
Variant Present in the following documents:
  • NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 7
  • NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 6
View BVdb publication page



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: 6148G>C; Val2050Leu
PubMed Link: 32783370
Variant Present in the following documents:
  • Main text
  • AJMG-184-762.pdf
View BVdb publication page



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

Molecular Therapy. Nucleic Acids
Khan, Mubeen M; Arno, Gavin G; Fakin, Ana A; Parfitt, David A DA; Dhooge, Patty P A PPA; Albert, Silvia S; Bax, Nathalie M NM; Duijkers, Lonneke L; Niblock, Michael M; Hau, Kwan L KL; Bloch, Edward E; Schiff, Elena R ER; Piccolo, Davide D; Hogden, Michael C MC; Hoyng, Carel B CB; Webster, Andrew R AR; Cremers, Frans P M FPM; Cheetham, Michael E ME; Garanto, Alejandro A; Collin, Rob W J RWJ
Publication Date: 2020-09-04

Variant appearance in text: STGD1: V2050L
PubMed Link: 32653833
Variant Present in the following documents:
  • Main text
  • mmc6.pdf
  • main.pdf
View BVdb publication page



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: 6148G>C; Val2050Leu
PubMed Link: 31980526
Variant Present in the following documents:
  • pnas.1909378117.sd01.xlsx, sheet 3
View BVdb publication page



Extensive genic and allelic heterogeneity underlying inherited retinal dystrophies in Mexican patients molecularly analyzed by next-generation sequencing.

Molecular Genetics & Genomic Medicine
Zenteno, Juan C JC; García-Montaño, Leopoldo A LA; Cruz-Aguilar, Marisa M; Ronquillo, Josué J; Rodas-Serrano, Agustín A; Aguilar-Castul, Luis L; Matsui, Rodrigo R; Vencedor-Meraz, Carlos I CI; Arce-González, Rocío R; Graue-Wiechers, Federico F; Gutiérrez-Paz, Mario M; Urrea-Victoria, Tatiana T; de Dios Cuadras, Ulises U; Chacón-Camacho, Oscar F OF
Publication Date: 2020-01

Variant appearance in text: ABCA4: 6148G>C
PubMed Link: 31736247
Variant Present in the following documents:
  • Main text
  • MGG3-8-0.pdf
View BVdb publication page



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: 6148G>C
PubMed Link: 30798147
Variant Present in the following documents:
  • Main text
  • nihms-1040295.pdf
View BVdb publication page



Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

Scientific Reports
Jespersgaard, Cathrine C; Fang, Mingyan M; Bertelsen, Mette M; Dang, Xiao X; Jensen, Hanne H; Chen, Yulan Y; Bech, Niels N; Dai, Lanlan L; Rosenberg, Thomas T; Zhang, Jianguo J; Møller, Lisbeth Birk LB; Tümer, Zeynep Z; Brøndum-Nielsen, Karen K; Grønskov, Karen K
Publication Date: 2019-02-04

Variant appearance in text: ABCA4: 6148G>C; Val2050Leu
PubMed Link: 30718709
Variant Present in the following documents:
  • 41598_2018_38007_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



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: V2050L; rs41292677
PubMed Link: 30665703
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



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: 6148G>C; V2050L
PubMed Link: 30215852
Variant Present in the following documents:
  • CGE-94-569-s003.xlsx, sheet 1
View BVdb publication page



Searching the second hit in patients with inherited retinal dystrophies and monoallelic variants in ABCA4, USH2A and CEP290 by whole-gene targeted sequencing.

Scientific Reports
González-Del Pozo, María M; Martín-Sánchez, Marta M; Bravo-Gil, Nereida N; Méndez-Vidal, Cristina C; Chimenea, Ángel Á; Rodríguez-de la Rúa, Enrique E; Borrego, Salud S; Antiñolo, Guillermo G
Publication Date: 2018-09-06

Variant appearance in text: ABCA4: Val2050Leu
PubMed Link: 30190494
Variant Present in the following documents:
  • Main text
View BVdb publication page



Expanding the Mutation Spectrum in ABCA4: Sixty Novel Disease Causing Variants and Their Associated Phenotype in a Large French Stargardt Cohort.

International Journal Of Molecular Sciences
Nassisi, Marco M; Mohand-Saïd, Saddek S; Dhaenens, Claire-Marie CM; Boyard, Fiona F; Démontant, Vanessa V; Andrieu, Camille C; Antonio, Aline A; Condroyer, Christel C; Foussard, Marine M; Méjécase, Cécile C; Eandi, Chiara Maria CM; Sahel, José-Alain JA; Zeitz, Christina C; Audo, Isabelle I
Publication Date: 2018-07-27

Variant appearance in text: ABCA4: 6148G>C
PubMed Link: 30060493
Variant Present in the following documents:
  • Main text
  • ijms-19-02196.pdf
View BVdb publication page



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: 6148G>C
PubMed Link: 29925512
Variant Present in the following documents:
  • bjophthalmol-2018-312064supp005.pdf
  • bjophthalmol-2018-312064supp004.pdf
View BVdb publication page



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

Ophthalmology
Mehat, Manjit S MS; Sundaram, Venki V; Ripamonti, Caterina C; Robson, Anthony G AG; Smith, Alexander J AJ; Borooah, Shyamanga S; Robinson, Martha M; Rosenthal, Adam N AN; Innes, William W; Weleber, Richard G RG; Lee, Richard W J RWJ; Crossland, Michael M; Rubin, Gary S GS; Dhillon, Baljean B; Steel, David H W DHW; Anglade, Eddy E; Lanza, Robert P RP; Ali, Robin R RR; Michaelides, Michel M; Bainbridge, James W B JWB
Publication Date: 2018-11

Variant appearance in text: ABCA4: 6148G>C
PubMed Link: 29884405
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



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: 6148G>C
PubMed Link: 29555955
Variant Present in the following documents:
  • 41598_2018_22096_MOESM1_ESM.pdf
View BVdb publication page



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: 6148G>C; rs41292677
PubMed Link: 29273096
Variant Present in the following documents:
  • 13073_2017_502_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



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: 6148G>C; Val2050Leu
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Photoreceptor Cilia and Retinal Ciliopathies.

Cold Spring Harbor Perspectives In Biology
Bujakowska, Kinga M KM; Liu, Qin Q; Pierce, Eric A EA
Publication Date: 2017-10-03

Variant appearance in text: ABCA4: Val2050Leu
PubMed Link: 28289063
Variant Present in the following documents:
  • Main text
View BVdb publication page



Diagnostic exome sequencing in 266 Dutch patients with visual impairment.

European Journal Of Human Genetics : Ejhg
Haer-Wigman, Lonneke L; van Zelst-Stams, Wendy Ag WA; Pfundt, Rolph R; van den Born, L Ingeborgh LI; Klaver, Caroline Cw CC; Verheij, Joke Bgm JB; Hoyng, Carel B CB; Breuning, Martijn H MH; Boon, Camiel Jf CJ; Kievit, Anneke J AJ; Verhoeven, Virginie Jm VJ; Pott, Jan Wr JW; Sallevelt, Suzanne Ceh SC; van Hagen, Johanna M JM; Plomp, Astrid S AS; Kroes, Hester Y HY; Lelieveld, Stefan H SH; Hehir-Kwa, Jayne Y JY; Castelein, Steven S; Nelen, Marcel M; Scheffer, Hans H; Lugtenberg, Dorien D; Cremers, Frans Pm FP; Hoefsloot, Lies L; Yntema, Helger G HG
Publication Date: 2017-05

Variant appearance in text: ABCA4: 6148G>C; Val2050Leu
PubMed Link: 28224992
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: 6148G>C
PubMed Link: 28181551
Variant Present in the following documents:
  • Main text
  • srep42078.pdf
View BVdb publication page



New CDH3 mutation in the first Spanish case of hypotrichosis with juvenile macular dystrophy, a case report.

Bmc Medical Genetics
Blanco-Kelly, Fiona F; Rodrigues-Jacy da Silva, Luciana L; Sanchez-Navarro, Iker I; Riveiro-Alvarez, Rosa R; Lopez-Martinez, Miguel Angel MA; Corton, Marta M; Ayuso, Carmen C
Publication Date: 2017-01-07

Variant appearance in text: ABCA4: 6148G>C; Val2050Leu
PubMed Link: 28061825
Variant Present in the following documents:
  • Main text
View BVdb publication page



Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer.

Scientific Reports
Feliubadaló, Lídia L; Tonda, Raúl R; Gausachs, Mireia M; Trotta, Jean-Rémi JR; Castellanos, Elisabeth E; López-Doriga, Adriana A; Teulé, Àlex À; Tornero, Eva E; Del Valle, Jesús J; Gel, Bernat B; Gut, Marta M; Pineda, Marta M; González, Sara S; Menéndez, Mireia M; Navarro, Matilde M; Capellá, Gabriel G; Gut, Ivo I; Serra, Eduard E; Brunet, Joan J; Beltran, Sergi S; Lázaro, Conxi C
Publication Date: 2017-01-04

Variant appearance in text: ABCA4: 6148G>C; Val2050Leu
PubMed Link: 28050010
Variant Present in the following documents:
  • srep37984-s2.xls, sheet 1
View BVdb publication page



The Anatomy to Genomics (ATG) Start Genetics medical school initiative: incorporating exome sequencing data from cadavers used for Anatomy instruction into the first year curriculum.

Bmc Medical Genomics
Gerhard, Glenn S GS; Jin, Qunyan Q; Paynton, Barbara V BV; Popoff, Steven N SN
Publication Date: 2016-10-06

Variant appearance in text: ABCA4: Val2050Leu; rs41292677
PubMed Link: 27716216
Variant Present in the following documents:
  • 12920_2016_223_MOESM1_ESM.pdf
View BVdb publication page



Correction: Exome Sequencing of Index Patients with Retinal Dystrophies as a Tool for Molecular Diagnosis.

Plos One
Corton, Marta M; Nishiguchi, Koji M KM; Avila-Fernández, Almudena A; Nikopoulos, Konstantinos K; Riveiro-Alvarez, Rosa R; Tatu, Sorina D SD; Ayuso, Carmen C; Rivolta, Carlo C
Publication Date: 2016

Variant appearance in text: ABCA4: 6148G>C; V2050L
PubMed Link: 27031522
Variant Present in the following documents:
  • pone.0153121.pdf
View BVdb publication page



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: V2050L; rs41292677
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



Quantitative Fundus Autofluorescence and Optical Coherence Tomography in ABCA4 Carriers.

Investigative Ophthalmology & Visual Science
Duncker, Tobias T; Stein, Gregory E GE; Lee, Winston W; Tsang, Stephen H SH; Zernant, Jana J; Bearelly, Srilaxmi S; Hood, Donald C DC; Greenstein, Vivienne C VC; Delori, François C FC; Allikmets, Rando R; Sparrow, Janet R JR
Publication Date: 2015-11

Variant appearance in text: ABCA4: V2050L
PubMed Link: 26551331
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: V2050L
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 1
View BVdb publication page



Genetic modifiers and oligogenic inheritance.

Cold Spring Harbor Perspectives In Medicine
Kousi, Maria M; Katsanis, Nicholas N
Publication Date: 2015-06-01

Variant appearance in text: ABCA4: V2050L
PubMed Link: 26033081
Variant Present in the following documents:
  • Main text
View BVdb publication page



Common synonymous variants in ABCA4 are protective for chloroquine induced maculopathy (toxic maculopathy).

Bmc Ophthalmology
Grassmann, Felix F; Bergholz, Richard R; Mändl, Julia J; Jägle, Herbert H; Ruether, Klaus K; Weber, Bernhard H F BH
Publication Date: 2015-03-06

Variant appearance in text: ABCA4: V2050L
PubMed Link: 25884411
Variant Present in the following documents:
  • Main text
  • 12886_2015_Article_8.pdf
View BVdb publication page



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: ABCA4: V2050L
PubMed Link: 25807536
Variant Present in the following documents:
  • pone.0121644.s002.xls, sheet 1
View BVdb publication page



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: 6148G>C; Val2050Leu
PubMed Link: 25412400
Variant Present in the following documents:
  • NIHMS639026-supplement-Supplementary_Material_-_Table_S7_Excel.xls, sheet 1
View BVdb publication page



Whole-genome sequencing of the world's oldest people.

Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014

Variant appearance in text: ABCA4: V2050L; rs41292677
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page



Mutation screening of retinal dystrophy patients by targeted capture from tagged pooled DNAs and next generation sequencing.

Plos One
Watson, Christopher M CM; El-Asrag, Mohammed M; Parry, David A DA; Morgan, Joanne E JE; Logan, Clare V CV; Carr, Ian M IM; Sheridan, Eamonn E; Charlton, Ruth R; Johnson, Colin A CA; Taylor, Graham G; Toomes, Carmel C; McKibbin, Martin M; Inglehearn, Chris F CF; Ali, Manir M
Publication Date: 2014

Variant appearance in text: ABCA4: 6148G>C; Val2050Leu
PubMed Link: 25133751
Variant Present in the following documents:
  • pone.0104281.s001.pdf
View BVdb publication page