Publications:

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Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.

Nature Communications

Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA

Publication Date: 2023-04-03

Variant appearance in text: ABCA4: R943Q

PubMed Link: 37012232

Variant Present in the following documents:

• 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2

View BVdb publication page

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Whole-exome sequencing analysis identifies distinct mutational profile and novel prognostic biomarkers in primary gastrointestinal diffuse large B-cell lymphoma.

Experimental Hematology & Oncology

Li, Shan-Shan SS; Zhai, Xiao-Hui XH; Liu, Hai-Ling HL; Liu, Ting-Zhi TZ; Cao, Tai-Yuan TY; Chen, Dong-Mei DM; Xiao, Le-Xin LX; Gan, Xiao-Qin XQ; Cheng, Ke K; Hong, Wan-Jia WJ; Huang, Yan Y; Lian, Yi-Fan YF; Xiao, Jian J

Publication Date: 2022-10-15

Variant appearance in text: ABCA4: 2828G>A; Arg943Gln; rs1801581

PubMed Link: 36243813

Variant Present in the following documents:

• 40164_2022_325_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: 2828G>A; Arg943Gln

PubMed Link: 36178783

Variant Present in the following documents:

• tvst-11-9-34_s002.pdf

View BVdb publication page

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A bipartite graph-based expected networks approach identifies DDR genes not associated with TMB yet predictive of immune checkpoint blockade response.

Cell Reports. Medicine

Weir, William H WH; Mucha, Peter J PJ; Kim, William Y WY

Publication Date: 2022-05-17

Variant appearance in text: ABCA4: 2828G>A; Arg943Gln

PubMed Link: 35584624

Variant Present in the following documents:

• mmc2.xlsx, sheet 4

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: 2828G>A

PubMed Link: 35156991

Variant Present in the following documents:

• Main text
• iovs-63-2-25.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: R943Q; rs1801581

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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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: 2828G>A; rs1801581

PubMed Link: 34807235

Variant Present in the following documents:

• Main text
• iovs-62-14-24.pdf

View BVdb publication page

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Sharing genetic variants with the NGS pipeline is essential for effective genomic data sharing and reproducibility in health information exchange.

Scientific Reports

Lee, Jeong Hoon JH; Kweon, Solbi S; Park, Yu Rang YR

Publication Date: 2021-01-26

Variant appearance in text: rs1801581

PubMed Link: 33500538

Variant Present in the following documents:

• Main text
• 41598_2021_Article_82006.pdf

View BVdb publication page

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The mutation profile of differentiated thyroid cancer coexisting with undifferentiated anaplastic cancer resembles that of anaplastic thyroid cancer but not that of archetypal differentiated thyroid cancer.

Journal Of Applied Genetics

Mika, Justyna J; Łabaj, Wojciech W; Chekan, Mykola M; Abramowicz, Agata A; Pietrowska, Monika M; Polański, Andrzej A; Widłak, Piotr P

Publication Date: 2021-02

Variant appearance in text: ABCA4: R943Q

PubMed Link: 33222100

Variant Present in the following documents:

• 13353_2020_594_MOESM2_ESM.xlsx, sheet 1

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: 2828G>A

PubMed Link: 33185728

Variant Present in the following documents:

• Main text
• 417_2020_Article_4992.pdf

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: 2828G>A; Arg943Gln; rs1801581

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: R943Q

PubMed Link: 32884132

Variant Present in the following documents:

• NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 6

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: 2828G>A

PubMed Link: 32483926

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic characterization of Stargardt clinical phenotype in South Indian patients using sanger and targeted sequencing.

Eye And Vision (London, England)

Raj, Rajendran Kadarkarai RK; Dhoble, Pankaja P; Anjanamurthy, Rupa R; Chermakani, Prakash P; Kumaran, Manojkumar M; Devarajan, Bharanidharan B; Sundaresan, Periasamy P

Publication Date: 2020

Variant appearance in text: STGD1: R943Q; rs1801581

PubMed Link: 31934596

Variant Present in the following documents:

• Main text
• 40662_2019_Article_168.pdf

View BVdb publication page

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Characterisation of vascular changes in different stages of Stargardt disease using double swept-source optical coherence tomography angiography.

Bmj Open Ophthalmology

Reich, Michael M; Glatz, Andreas A; Cakir, Bertan B; Böhringer, Daniel D; Lang, Stefan S; Küchlin, Sebastian S; Joachimsen, Lutz L; Lagreze, Wolf W; Agostini, Hansjuergen T HT; Lange, Clemens C

Publication Date: 2019

Variant appearance in text: STGD: 2828G>A

PubMed Link: 31799409

Variant Present in the following documents:

• Main text
• bmjophth-2019-000318.pdf

View BVdb publication page

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A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.

Scientific Reports

Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW

Publication Date: 2019-03-20

Variant appearance in text: ABCA4: R943Q; rs1801581

PubMed Link: 30894629

Variant Present in the following documents:

• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 13

View BVdb publication page

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Arylsulphatase A Pseudodeficiency (ARSA-PD), hypertension and chronic renal disease in Aboriginal Australians.

Scientific Reports

Tang, Dave D; Fakiola, Michaela M; Syn, Genevieve G; Anderson, Denise D; Cordell, Heather J HJ; Scaman, Elizabeth S H ESH; Davis, Elizabeth E; Miles, Simon J SJ; McLeay, Toby T; Jamieson, Sarra E SE; Lassmann, Timo T; Blackwell, Jenefer M JM

Publication Date: 2018-07-19

Variant appearance in text: ABCA4: 2828G>A; Arg943Gln; rs1801581

PubMed Link: 30026549

Variant Present in the following documents:

• 41598_2018_29279_MOESM1_ESM.pdf

View BVdb publication page

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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: 2828G>A

PubMed Link: 29884405

Variant Present in the following documents:

• Main text
• main.pdf

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: 2828G>A; Arg943Gln; rs1801581

PubMed Link: 29343940

Variant Present in the following documents:

• Main text
• opth-12-049.pdf

View BVdb publication page

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Patient-specific molecular alterations are associated with metastatic clear cell renal cell cancer progressing under tyrosine kinase inhibitor therapy.

Oncotarget

Dietz, Steffen S; Sültmann, Holger H; Du, YueJun Y; Reisinger, Eva E; Riediger, Anja Lisa AL; Volckmar, Anna-Lena AL; Stenzinger, Albrecht A; Schlesner, Matthias M; Jäger, Dirk D; Hohenfellner, Markus M; Duensing, Stefan S; Grüllich, Carsten C; Pahernik, Sascha S

Publication Date: 2017-09-26

Variant appearance in text: ABCA4: R943Q

PubMed Link: 29088767

Variant Present in the following documents:

• oncotarget-08-74049-s002.xlsx, sheet 6

View BVdb publication page

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Correlation of Macular Focal Electroretinogram with Ellipsoid Zone Extension in Stargardt Disease.

Journal Of Ophthalmology

Abed, Edoardo E; Placidi, Giorgio G; Calandriello, Luigi L; Piccardi, Marco M; Campagna, Francesca F; Bertelli, Matteo M; Minnella, Angelo Maria AM; Savastano, Maria Cristina MC; Falsini, Benedetto B

Publication Date: 2017

Variant appearance in text: STGD1: Arg943Gln

PubMed Link: 28912967

Variant Present in the following documents:

• Main text
• JOPH2017-3643495.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: 2828G>A; Arg943Gln

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.

Scientific Reports

Chen, Xiaowei Sylvia XS; Reader, Rose H RH; Hoischen, Alexander A; Veltman, Joris A JA; Simpson, Nuala H NH; Francks, Clyde C; Newbury, Dianne F DF; Fisher, Simon E SE

Publication Date: 2017-04-25

Variant appearance in text: ABCA4: R943Q; rs1801581

PubMed Link: 28440294

Variant Present in the following documents:

• srep46105-s2.xls, sheet 9

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: ABCA4: 2828G>A; R943Q

PubMed Link: 28118664

Variant Present in the following documents:

• iovs-57-15-69_s04.pdf

View BVdb publication page

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Molecular analysis of urothelial cancer cell lines for modeling tumor biology and drug response.

Oncogene

Nickerson, M L ML; Witte, N N; Im, K M KM; Turan, S S; Owens, C C; Misner, K K; Tsang, S X SX; Cai, Z Z; Wu, S S; Dean, M M; Costello, J C JC; Theodorescu, D D

Publication Date: 2017-01-05

Variant appearance in text: ABCA4: R943Q; rs1801581

PubMed Link: 27270441

Variant Present in the following documents:

• onc2016172x3.xls, sheet 3

View BVdb publication page

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Genomic screening of ABCA4 and array CGH analysis underline the genetic variability of Greek patients with inherited retinal diseases.

Meta Gene

Tsipi, Maria M; Tzetis, Maria M; Kosma, Konstantina K; Moschos, Marilita M; Braoudaki, Maria M; Poulou, Myrto M; Kanavakis, Emmanuel E; Kitsiou-Tzeli, Sofia S

Publication Date: 2016-06

Variant appearance in text: ABCA4: Arg943Gln

PubMed Link: 27014590

Variant Present in the following documents:

• Main text
• main.pdf
• mmc2.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: R943Q; rs1801581

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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: R943Q

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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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: R943Q

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: R943Q; rs1801581

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

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: 2828G>A

PubMed Link: 25066811

Variant Present in the following documents:

• Main text
• humu0035-1187.pdf

View BVdb publication page

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NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Plos One

Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y

Publication Date: 2014

Variant appearance in text: ABCA4: R943Q; rs1801581

PubMed Link: 25032700

Variant Present in the following documents:

• pone.0101670.s004.xlsx, sheet 1

View BVdb publication page

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Retinoid binding properties of nucleotide binding domain 1 of the Stargardt disease-associated ATP binding cassette (ABC) transporter, ABCA4.

The Journal Of Biological Chemistry

Biswas-Fiss, Esther E EE; Affet, Stephanie S; Ha, Malissa M; Biswas, Subhasis B SB

Publication Date: 2012-12-28

Variant appearance in text: ABCA4: R943Q

PubMed Link: 23144455

Variant Present in the following documents:

• Main text

View BVdb publication page

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Next-generation genetic testing for retinitis pigmentosa.

Human Mutation

Neveling, Kornelia K; Collin, Rob W J RW; Gilissen, Christian C; van Huet, Ramon A C RA; Visser, Linda L; Kwint, Michael P MP; Gijsen, Sabine J SJ; Zonneveld, Marijke N MN; Wieskamp, Nienke N; de Ligt, Joep J; Siemiatkowska, Anna M AM; Hoefsloot, Lies H LH; Buckley, Michael F MF; Kellner, Ulrich U; Branham, Kari E KE; den Hollander, Anneke I AI; Hoischen, Alexander A; Hoyng, Carel C; Klevering, B Jeroen BJ; van den Born, L Ingeborgh LI; Veltman, Joris A JA; Cremers, Frans P M FP; Scheffer, Hans H

Publication Date: 2012-06

Variant appearance in text: ABCA4: R943Q; rs1801581

PubMed Link: 22334370

Variant Present in the following documents:

• humu0033-0963-sd1.pdf

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: 2828G>A

PubMed Link: 19365591

Variant Present in the following documents:

• Main text

View BVdb publication page

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Frequency of ABCA4 mutations in 278 Spanish controls: an insight into the prevalence of autosomal recessive Stargardt disease.

The British Journal Of Ophthalmology

Riveiro-Alvarez, R R; Aguirre-Lamban, J J; Lopez-Martinez, M Angel MA; Trujillo-Tiebas, M Jose MJ; Cantalapiedra, D D; Vallespin, E E; Avila-Fernandez, A A; Ramos, C C; Ayuso, C C

Publication Date: 2009-10

Variant appearance in text: ABCA4: 2828G>A

PubMed Link: 18977788

Variant Present in the following documents:

• Main text
• BJ1-93-10-1359.pdf

View BVdb publication page

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

American Journal Of Human Genetics

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

Publication Date: 2000-10

Variant appearance in text: STGD: R943Q

PubMed Link: 10958763

Variant Present in the following documents:

• Main text

View BVdb publication page

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