Publications:

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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: Leu1201Arg

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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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: 3602T>G; Leu1201Arg

PubMed Link: 36178783

Variant Present in the following documents:

• tvst-11-9-34_s002.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: L1201R; rs61750126

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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Reference exome data for a Northern Brazilian population.

Scientific Data

Weeks, Alexia L AL; Francis, Richard W RW; Neri, Joao I C F JICF; Costa, Nathaly M C NMC; Arrais, Nivea M R NMR; Lassmann, Timo T; Blackwell, Jenefer M JM; Jeronimo, Selma M B SMB

Publication Date: 2020-10-21

Variant appearance in text: ABCA4: 3602T>G; Leu1201Arg; rs61750126

PubMed Link: 33087711

Variant Present in the following documents:

• 41597_2020_703_MOESM2_ESM.xlsx, sheet 1

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: L1201R

PubMed Link: 32884132

Variant Present in the following documents:

• NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 6

View BVdb publication page

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Antioxidant Saffron and Central Retinal Function in ABCA4-Related Stargardt Macular Dystrophy.

Nutrients

Piccardi, Marco M; Fadda, Antonello A; Martelli, Francesco F; Marangoni, Dario D; Magli, Adriano A; Minnella, Angelo M AM; Bertelli, Matteo M; Di Marco, Stefano S; Bisti, Silvia S; Falsini, Benedetto B

Publication Date: 2019-10-15

Variant appearance in text: ABCA4: 3602T>G

PubMed Link: 31618812

Variant Present in the following documents:

• Main text
• nutrients-11-02461.pdf

View BVdb publication page

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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: 3602T>G

PubMed Link: 30060493

Variant Present in the following documents:

• Main text
• ijms-19-02196.pdf

View BVdb publication page

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Detailed genetic characteristics of an international large cohort of patients with Stargardt disease: ProgStar study report 8.

The British Journal Of Ophthalmology

Fujinami, Kaoru K; Strauss, Rupert W RW; Chiang, John Pei-Wen JP; Audo, Isabelle S IS; Bernstein, Paul S PS; Birch, David G DG; Bomotti, Samantha M SM; Cideciyan, Artur V AV; Ervin, Ann-Margret AM; Marino, Meghan J MJ; Sahel, José-Alain JA; Mohand-Said, Saddek S; Sunness, Janet S JS; Traboulsi, Elias I EI; West, Sheila S; Wojciechowski, Robert R; Zrenner, Eberhart E; Michaelides, Michel M; Scholl, Hendrik P N HPN; , ; ,

Publication Date: 2019-03

Variant appearance in text: ABCR: 3602T>G

PubMed Link: 29925512

Variant Present in the following documents:

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

View BVdb publication page

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Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.

Plos One

Pritchard, Antonia L AL; Johansson, Peter A PA; Nathan, Vaishnavi V; Howlie, Madeleine M; Symmons, Judith J; Palmer, Jane M JM; Hayward, Nicholas K NK

Publication Date: 2018

Variant appearance in text: ABCA4: 3602T>G; Leu1201Arg; rs61750126

PubMed Link: 29641532

Variant Present in the following documents:

• pone.0194098.s003.xlsx, sheet 10

View BVdb publication page

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Prescreening whole exome sequencing results from patients with retinal degeneration for variants in genes associated with retinal degeneration.

Clinical Ophthalmology (Auckland, N.Z.)

Bryant, Laura L; Lozynska, Olga O; Maguire, Albert M AM; Aleman, Tomas S TS; Bennett, Jean J

Publication Date: 2018

Variant appearance in text: ABCA4: Leu1201Arg; rs61750126

PubMed Link: 29343940

Variant Present in the following documents:

• Main text
• opth-12-049.pdf

View BVdb publication page

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

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

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

Publication Date: 2017-10

Variant appearance in text: ABCA4: 3602T>G; Leu1201Arg

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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: 3602T>G

PubMed Link: 28118664

Variant Present in the following documents:

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

View BVdb publication page

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Molecular Diagnosis of Inherited Retinal Diseases in Indigenous African Populations by Whole-Exome Sequencing.

Investigative Ophthalmology & Visual Science

Roberts, Lisa L; Ratnapriya, Rinki R; du Plessis, Morné M; Chaitankar, Vijender V; Ramesar, Raj S RS; Swaroop, Anand A

Publication Date: 2016-11-01

Variant appearance in text: ABCA4: L1201R

PubMed Link: 27898983

Variant Present in the following documents:

• iovs-57-14-17_s03.xlsx, sheet 1

View BVdb publication page

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: STGD1: L1201R; rs61750126

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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

The British Journal Of Ophthalmology

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

Publication Date: 2016-07

Variant appearance in text: ABCA4: 3602T>G

PubMed Link: 26568636

Variant Present in the following documents:

• bjophthalmol-2015-307035-s1.pdf

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: ABCA4: L1201R

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1

View BVdb publication page

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The efficacy of microarray screening for autosomal recessive retinitis pigmentosa in routine clinical practice.

Molecular Vision

van Huet, Ramon A C RA; Pierrache, Laurence H M LH; Meester-Smoor, Magda A MA; Klaver, Caroline C W CC; van den Born, L Ingeborgh LI; Hoyng, Carel B CB; de Wijs, Ilse J IJ; Collin, Rob W J RW; Hoefsloot, Lies H LH; Klevering, B Jeroen BJ

Publication Date: 2015

Variant appearance in text: ABCA4: 3602T>G; Leu1201Arg

PubMed Link: 25999674

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: Leu1201Arg

PubMed Link: 25884411

Variant Present in the following documents:

• Main text
• 12886_2015_Article_8.pdf

View BVdb publication page

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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: L1201R; rs61750126

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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De novo mutations in moderate or severe intellectual disability.

Plos Genetics

Hamdan, Fadi F FF; Srour, Myriam M; Capo-Chichi, Jose-Mario JM; Daoud, Hussein H; Nassif, Christina C; Patry, Lysanne L; Massicotte, Christine C; Ambalavanan, Amirthagowri A; Spiegelman, Dan D; Diallo, Ousmane O; Henrion, Edouard E; Dionne-Laporte, Alexandre A; Fougerat, Anne A; Pshezhetsky, Alexey V AV; Venkateswaran, Sunita S; Rouleau, Guy A GA; Michaud, Jacques L JL

Publication Date: 2014-10

Variant appearance in text: ABCA4: L1201R

PubMed Link: 25356899

Variant Present in the following documents:

• pgen.1004772.s004.xlsx, sheet 19

View BVdb publication page

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Macular function and morphologic features in juvenile stargardt disease: longitudinal study.

Ophthalmology

Testa, Francesco F; Melillo, Paolo P; Di Iorio, Valentina V; Orrico, Ada A; Attanasio, Marcella M; Rossi, Settimio S; Simonelli, Francesca F

Publication Date: 2014-12

Variant appearance in text: ABCA4: L1201R

PubMed Link: 25097154

Variant Present in the following documents:

• Main text

View BVdb publication page

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Molecular diagnostic testing by eyeGENE: analysis of patients with hereditary retinal dystrophy phenotypes involving central vision loss.

Investigative Ophthalmology & Visual Science

Alapati, Akhila A; Goetz, Kerry K; Suk, John J; Navani, Mili M; Al-Tarouti, Amani A; Jayasundera, Thiran T; Tumminia, Santa J SJ; Lee, Pauline P; Ayyagari, Radha R

Publication Date: 2014-07-31

Variant appearance in text: ABCA4: 3602T>G; rs61750126

PubMed Link: 25082885

Variant Present in the following documents:

• Main text

View BVdb publication page

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Analysis of the ABCA4 genomic locus in Stargardt disease.

Human Molecular Genetics

Zernant, Jana J; Xie, Yajing Angela YA; Ayuso, Carmen C; Riveiro-Alvarez, Rosa R; Lopez-Martinez, Miguel-Angel MA; Simonelli, Francesca F; Testa, Francesco F; Gorin, Michael B MB; Strom, Samuel P SP; Bertelsen, Mette M; Rosenberg, Thomas T; Boone, Philip M PM; Yuan, Bo B; Ayyagari, Radha R; Nagy, Peter L PL; Tsang, Stephen H SH; Gouras, Peter P; Collison, Frederick T FT; Lupski, James R JR; Fishman, Gerald A GA; Allikmets, Rando R

Publication Date: 2014-12-20

Variant appearance in text: ABCA4: L1201R

PubMed Link: 25082829

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic and clinical analysis of ABCA4-associated disease in African American patients.

Human Mutation

Zernant, Jana J; Collison, Frederick T FT; Lee, Winston W; Fishman, Gerald A GA; Noupuu, Kalev K; Yuan, Bo B; Cai, Carolyn C; Lupski, James R JR; Yannuzzi, Lawrence A LA; Tsang, Stephen H SH; Allikmets, Rando R

Publication Date: 2014-10

Variant appearance in text: ABCA4: 3602T>G

PubMed Link: 25066811

Variant Present in the following documents:

• Main text
• humu0035-1187.pdf

View BVdb publication page

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Association of dark-adapted visual function with retinal structural changes in patients with Stargardt disease.

Retina (Philadelphia, Pa.)

Salvatore, Serena S; Fishman, Gerald A GA; McAnany, J Jason JJ; Genead, Mohamed A MA

Publication Date: 2014-05

Variant appearance in text: STGD1: leu1201arg

PubMed Link: 24280667

Variant Present in the following documents:

• Main text

View BVdb publication page

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Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.

Nature Genetics

Seddon, Johanna M JM; Yu, Yi Y; Miller, Elizabeth C EC; Reynolds, Robyn R; Tan, Perciliz L PL; Gowrisankar, Sivakumar S; Goldstein, Jacqueline I JI; Triebwasser, Michael M; Anderson, Holly E HE; Zerbib, Jennyfer J; Kavanagh, David D; Souied, Eric E; Katsanis, Nicholas N; Daly, Mark J MJ; Atkinson, John P JP; Raychaudhuri, Soumya S

Publication Date: 2013-11

Variant appearance in text: ABCA4: L1201R; rs61750126

PubMed Link: 24036952

Variant Present in the following documents:

• NIHMS512112-supplement-2.xlsx, sheet 2

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: 3602T>G; L1201R; rs61750126

PubMed Link: 23982839

Variant Present in the following documents:

• Main text

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: Leu1201Arg

PubMed Link: 22328824

Variant Present in the following documents:

• Main text
• mv-v18-280.pdf

View BVdb publication page

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Spectral-domain OCT peripapillary retinal nerve fibre layer thickness measurements in patients with Stargardt disease.

The British Journal Of Ophthalmology

Genead, Mohamed A MA; Fishman, Gerald A GA; Anastasakis, Anastasios A

Publication Date: 2011-05

Variant appearance in text: ABCA4: leu1201arg

PubMed Link: 20935302

Variant Present in the following documents:

• Main text

View BVdb publication page

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Deducing the pathogenic contribution of recessive ABCA4 alleles in an outbred population.

Human Molecular Genetics

Schindler, Emily I EI; Nylen, Erik L EL; Ko, Audrey C AC; Affatigato, Louisa M LM; Heggen, Andrew C AC; Wang, Kai K; Sheffield, Val C VC; Stone, Edwin M EM

Publication Date: 2010-10-01

Variant appearance in text: ABCA4: Leu1201Arg

PubMed Link: 20647261

Variant Present in the following documents:

• Main text
• ddq284.pdf
• supp_ddq284_ddq284supp_Table.xls, sheet 1

View BVdb publication page

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ABCA4 mutations in Portuguese Stargardt patients: identification of new mutations and their phenotypic analysis.

Molecular Vision

Maia-Lopes, Susana S; Aguirre-Lamban, Jana J; Castelo-Branco, Miguel M; Riveiro-Alvarez, Rosa R; Ayuso, Carmen C; Silva, Eduardo Duarte ED

Publication Date: 2009

Variant appearance in text: STGD: 3602T>G

PubMed Link: 19365591

Variant Present in the following documents:

• Main text
• mv-v15-584.pdf

View BVdb publication page

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ABCA4 disease progression and a proposed strategy for gene therapy.

Human Molecular Genetics

Cideciyan, Artur V AV; Swider, Malgorzata M; Aleman, Tomas S TS; Tsybovsky, Yaroslav Y; Schwartz, Sharon B SB; Windsor, Elizabeth A M EA; Roman, Alejandro J AJ; Sumaroka, Alexander A; Steinberg, Janet D JD; Jacobson, Samuel G SG; Stone, Edwin M EM; Palczewski, Krzysztof K

Publication Date: 2009-03-01

Variant appearance in text: ABCA4: L1201R

PubMed Link: 19074458

Variant Present in the following documents:

• Main text

View BVdb publication page

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ABCA4 mutations and discordant ABCA4 alleles in patients and siblings with bull's-eye maculopathy.

The British Journal Of Ophthalmology

Michaelides, M M; Chen, L L LL; Brantley, M A MA; Andorf, J L JL; Isaak, E M EM; Jenkins, S A SA; Holder, G E GE; Bird, A C AC; Stone, E M EM; Webster, A R AR

Publication Date: 2007-12

Variant appearance in text: ABCA4: Leu1201Arg

PubMed Link: 18024811

Variant Present in the following documents:

• Main text

View BVdb publication page

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The ABCA4 gene in autosomal recessive cone-rod dystrophies.

American Journal Of Human Genetics

Ducroq, Dominique D; Rozet, Jean-Michel JM; Gerber, Sylvie S; Perrault, Isabelle I; Barbet, Dabienne D; Hanein, Sylvain S; Hakiki, Selim S; Dufier, Jean-Louis JL; Munnich, Arnold A; Hamel, Christian C; Kaplan, Josseline J

Publication Date: 2002-12

Variant appearance in text: ABCA4: L1201R

PubMed Link: 12515255

Variant Present in the following documents:

• Main text

View BVdb publication page

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