Publications:

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Structural and Pathogenic Impacts of ABCA4 Variants in Retinal Degenerations-An In-Silico Study.

International Journal Of Molecular Sciences

Cevik, Senem S; Biswas, Subhasis B SB; Biswas-Fiss, Esther E EE

Publication Date: 2023-04-14

Variant appearance in text: ABCA4: C1490Y

PubMed Link: 37108442

Variant Present in the following documents:

• Main text

View BVdb publication page

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Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis.

Frontiers In Cell And Developmental Biology

Panneman, Daan M DM; Hitti-Malin, Rebekkah J RJ; Holtes, Lara K LK; de Bruijn, Suzanne E SE; Reurink, Janine J; Boonen, Erica G M EGM; Khan, Muhammad Imran MI; Ali, Manir M; Andréasson, Sten S; De Baere, Elfride E; Banfi, Sandro S; Bauwens, Miriam M; Ben-Yosef, Tamar T; Bocquet, Béatrice B; De Bruyne, Marieke M; de la Cerda, Berta B; Coppieters, Frauke F; Farinelli, Pietro P; Guignard, Thomas T; Inglehearn, Chris F CF; Karali, Marianthi M; Kjellström, Ulrika U; Koenekoop, Robert R; de Koning, Bart B; Leroy, Bart P BP; McKibbin, Martin M; Meunier, Isabelle I; Nikopoulos, Konstantinos K; Nishiguchi, Koji M KM; Poulter, James A JA; Rivolta, Carlo C; Rodríguez de la Rúa, Enrique E; Saunders, Patrick P; Simonelli, Francesca F; Tatour, Yasmin Y; Testa, Francesco F; Thiadens, Alberta A H J AAHJ; Toomes, Carmel C; Tracewska, Anna M AM; Tran, Hoai Viet HV; Ushida, Hiroaki H; Vaclavik, Veronika V; Verhoeven, Virginie J M VJM; van de Vorst, Maartje M; Gilissen, Christian C; Hoischen, Alexander A; Cremers, Frans P M FPM; Roosing, Susanne S

Publication Date: 2023

Variant appearance in text: ABCA4: Cys1490Tyr

PubMed Link: 36819107

Variant Present in the following documents:

• Table4.xlsx, sheet 1

View BVdb publication page

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Genomic complexity predicts resistance to endocrine therapy and CDK4/6 inhibition in hormone receptor-positive (HR+)/HER2-negative metastatic breast cancer.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Davis, Andrew A AA; Luo, Jingqin J; Zheng, Tiantian T; Dai, Chao C; Dong, Xiaoxi X; Tan, Lu L; Suresh, Rama R; Ademuyiwa, Foluso O FO; Rigden, Caron C; Rearden, Timothy P TP; Clifton, Katherine K; Weilbaecher, Katherine K; Frith, Ashley A; Tandra, Pavankumar K PK; Summa, Tracy T; Haas, Brittney B; Thomas, Shana S; Hernandez-Aya, Leonel F LF; Peterson, Lindsay L LL; Wang, Xiaohong X; Luo, Shujun J SJ; Zhou, Kemin K; Du, Pan P; Jia, Shidong S; King, Bonnie L BL; Krishnamurthy, Jairam J; Ma, Cynthia X CX

Publication Date: 2023-01-24

Variant appearance in text: ABCA4: 4469G>A; Cys1490Tyr

PubMed Link: 36693175

Variant Present in the following documents:

• ccr-22-2177_supplementary_data_s1_suppds1.xlsx, sheet 3

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: 4469G>A

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: Cys1490Tyr

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: 4469G>A; Cys1490Tyr

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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A five-year follow-up of <i>ABCA4</i> carriers showing deterioration of retinal function and increased structural changes.

Molecular Vision

Kjellström, Ulrika U; Andréasson, Sten S

Publication Date: 2022

Variant appearance in text: ABCA4: 4469G>A

PubMed Link: 36338671

Variant Present in the following documents:

• Main text
• mv-v28-300.pdf

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: 4469G>A; Cys1490Tyr

PubMed Link: 36178783

Variant Present in the following documents:

• tvst-11-9-34_s002.pdf

View BVdb publication page

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Integrated Genomic Analysis Identifies UBTF Tandem Duplications as a Recurrent Lesion in Pediatric Acute Myeloid Leukemia.

Blood Cancer Discovery

Umeda, Masayuki M; Ma, Jing J; Huang, Benjamin J BJ; Hagiwara, Kohei K; Westover, Tamara T; Abdelhamed, Sherif S; Barajas, Juan M JM; Thomas, Melvin E ME; Walsh, Michael P MP; Song, Guangchun G; Tian, Liqing L; Liu, Yanling Y; Chen, Xiaolong X; Kolekar, Pandurang P; Tran, Quang Q; Foy, Scott G SG; Maciaszek, Jamie L JL; Kleist, Andrew B AB; Leonti, Amanda R AR; Ju, Bengsheng B; Easton, John J; Wu, Huiyun H; Valentine, Virginia V; Valentine, Marcus B MB; Liu, Yen-Chun YC; Ries, Rhonda E RE; Smith, Jenny L JL; Parganas, Evan E; Iacobucci, Ilaria I; Hiltenbrand, Ryan R; Miller, Jonathan J; Myers, Jason R JR; Rampersaud, Evadnie E; Rahbarinia, Delaram D; Rusch, Michael M; Wu, Gang G; Inaba, Hiroto H; Wang, Yi-Cheng YC; Alonzo, Todd A TA; Downing, James R JR; Mullighan, Charles G CG; Pounds, Stanley S; Babu, M Madan MM; Zhang, Jinghui J; Rubnitz, Jeffrey E JE; Meshinchi, Soheil S; Ma, Xiaotu X; Klco, Jeffery M JM

Publication Date: 2022-05-05

Variant appearance in text: ABCA4: C1490Y; rs61751402

PubMed Link: 35176137

Variant Present in the following documents:

• bcd-21-0160_supplemental_tables_supp1-32.xlsx, sheet 16

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: 4469G>A

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: 4469G>A

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: C1490Y; rs61751402

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9
• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7

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: Cys1490Tyr

PubMed Link: 34874912

Variant Present in the following documents:

• jciinsight-7-156154.pdf

View BVdb publication page

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Cryo-EM structures of the ABCA4 importer reveal mechanisms underlying substrate binding and Stargardt disease.

Nature Communications

Scortecci, Jessica Fernandes JF; Molday, Laurie L LL; Curtis, Susan B SB; Garces, Fabian A FA; Panwar, Pankaj P; Van Petegem, Filip F; Molday, Robert S RS

Publication Date: 2021-10-08

Variant appearance in text: ABCA4: C1490Y

PubMed Link: 34625547

Variant Present in the following documents:

• Main text
• 41467_2021_Article_26161.pdf

View BVdb publication page

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The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders.

Npj Genomic Medicine

Xiao, Qingyang Q; Lauschke, Volker M VM

Publication Date: 2021-06-02

Variant appearance in text: ABCA4: 4469G>A; Cys1490Tyr; rs61751402

PubMed Link: 34078906

Variant Present in the following documents:

• 41525_2021_203_MOESM2_ESM.xlsx, sheet 1

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: Cys1490Tyr

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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Whole exome sequencing reveals putatively novel associations in retinopathies and drusen formation.

European Journal Of Human Genetics : Ejhg

Doucette, Lance P LP; Noel, Nicole C L NCL; Zhai, Yi Y; Xu, Manlong M; Caluseriu, Oana O; Hoang, Stephanie C SC; Radziwon, Alina J AJ; MacDonald, Ian M IM

Publication Date: 2021-08

Variant appearance in text: ABCA4: C1490Y; rs61751402

PubMed Link: 33776059

Variant Present in the following documents:

• Main text

View BVdb publication page

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Whole exome sequencing reveals putatively novel associations in retinopathies and drusen formation.

European Journal Of Human Genetics : Ejhg

Doucette, Lance P LP; Noel, Nicole C L NCL; Zhai, Yi Y; Xu, Manlong M; Caluseriu, Oana O; Hoang, Stephanie C SC; Radziwon, Alina J AJ; MacDonald, Ian M IM

Publication Date: 2021-08

Variant appearance in text: ABCA4: C1490Y; rs61751402

PubMed Link: 33776059

Variant Present in the following documents:

• Main text

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: Cys1490Tyr

PubMed Link: 33749171

Variant Present in the following documents:

• MGG3-9-e1663-s001.xlsx, sheet 1

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: 2021-03-22

Variant appearance in text: ABCA4: Cys1490Tyr

PubMed Link: 33749171

Variant Present in the following documents:

• MGG3-9-e1663-s001.xlsx, sheet 1

View BVdb publication page

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Molecular structures of the eukaryotic retinal importer ABCA4.

Elife

Liu, Fangyu F; Lee, James J; Chen, Jue J

Publication Date: 2021-02-19

Variant appearance in text: ABCA4: C1490Y

PubMed Link: 33605212

Variant Present in the following documents:

• Main text
• elife-63524.pdf

View BVdb publication page

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Molecular structures of the eukaryotic retinal importer ABCA4.

Elife

Liu, Fangyu F; Lee, James J; Chen, Jue J

Publication Date: 2021-02-19

Variant appearance in text: ABCA4: C1490Y

PubMed Link: 33605212

Variant Present in the following documents:

• Main text
• elife-63524.pdf

View BVdb publication page

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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: 4469G>A

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: 4469G>A; C1490Y

PubMed Link: 33505770

Variant Present in the following documents:

• tvst-10-1-3_s002.pdf

View BVdb publication page

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The impact of the c.5603A>T hypomorphic variant on founder mutation screening of ABCA4 for Stargardt disease in South Africa.

Molecular Vision

Midgley, Nicole N; Roberts, Lisa L; Rebello, George G; Ramesar, Raj R

Publication Date: 2020

Variant appearance in text: STGD: 4469G>A

PubMed Link: 32913387

Variant Present in the following documents:

• Main text
• mv-v26-613.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: C1490Y

PubMed Link: 32884132

Variant Present in the following documents:

• NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 6

View BVdb publication page

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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: 4469G>A

PubMed Link: 32653833

Variant Present in the following documents:

• Main text
• mmc6.pdf
• main.pdf

View BVdb publication page

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The genetic architecture of Stargardt macular dystrophy (STGD1): a longitudinal 40-year study in a genetic isolate.

European Journal Of Human Genetics : Ejhg

Green, Jane S JS; O'Rielly, Darren D DD; Pater, Justin A JA; Houston, Jim J; Rajabi, Hoda H; Galutira, Dante D; Benteau, Tammy T; Sheaves, Amy A; Abdelfatah, Nelly N; Bautista, Donna D; Whelan, Jim J; Young, Terry-Lynn TL

Publication Date: 2020-07

Variant appearance in text: STGD: 4469G>A

PubMed Link: 32467599

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: Cys1490Tyr

PubMed Link: 32278709

Variant Present in the following documents:

• Main text
• nihms-1627942.pdf

View BVdb publication page

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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: 4469G>A; Cys1490Tyr

PubMed Link: 31980526

Variant Present in the following documents:

• pnas.1909378117.sd01.xlsx, sheet 3

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: C1490Y

PubMed Link: 31618812

Variant Present in the following documents:

• nutrients-11-02461.pdf

View BVdb publication page

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Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics

Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM

Publication Date: 2019-10

Variant appearance in text: ABCA4: 4469G>A; Cys1490Tyr; rs61751402

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

View BVdb publication page

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A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.

Molecular Genetics & Genomic Medicine

Zheng, Jianchao J; Zhang, Hongyun H; Banerjee, Santasree S; Li, Yun Y; Zhou, Junyu J; Yang, Qian Q; Tan, Xuemei X; Han, Peng P; Fu, Qinmei Q; Cui, Xiaoli X; Yuan, Yuying Y; Zhang, Meiyan M; Shen, Ruiqin R; Song, Haifeng H; Zhang, Xiuqing X; Zhao, Lijian L; Peng, Zhiyu Z; Wang, Wei W; Yin, Ye Y

Publication Date: 2019-07

Variant appearance in text: ABCA4: 4469G>A; Cys1490Tyr

PubMed Link: 31165590

Variant Present in the following documents:

• MGG3-7-e00748-s004.xlsx, sheet 1

View BVdb publication page

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Multi-platform imaging in ABCA4-Associated Disease.

Scientific Reports

Chen, Lijuan L; Lee, Winston W; de Carvalho, Jose Ronaldo Lima JRL; Chang, Stanley S; Tsang, Stephen H SH; Allikmets, Rando R; Sparrow, Janet R JR

Publication Date: 2019-04-23

Variant appearance in text: ABCA4: C1490Y

PubMed Link: 31015497

Variant Present in the following documents:

• Main text
• 41598_2019_Article_42772.pdf

View BVdb publication page

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An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation

Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,

Publication Date: 2019-01-01

Variant appearance in text: ABCA4: 4469G>A; Cys1490Tyr

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

View BVdb publication page

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Cross-Sectional and Longitudinal Assessment of the Ellipsoid Zone in Childhood-Onset Stargardt Disease.

Translational Vision Science & Technology

Tanna, Preena P; Georgiou, Michalis M; Strauss, Rupert W RW; Ali, Naser N; Kumaran, Neruban N; Kalitzeos, Angelos A; Fujinami, Kaoru K; Michaelides, Michel M

Publication Date: 2019-03

Variant appearance in text: STGD1: 4469G>A

PubMed Link: 30834176

Variant Present in the following documents:

• Main text
• i2164-2591-8-2-1.pdf

View BVdb publication page

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Correlation of Outer Retinal Degeneration and Choriocapillaris Loss in Stargardt Disease Using En Face Optical Coherence Tomography and Optical Coherence Tomography Angiography.

American Journal Of Ophthalmology

Alabduljalil, Talal T; Patel, Rachel C RC; Alqahtani, Abdullah A AA; Gao, Simon S SS; Gale, Michael J MJ; Zhang, Miao M; Jia, Yali Y; Huang, David D; Chiang, Pei-Wen PW; Chen, Rui R; Wang, Jun J; Weleber, Richard G RG; Pennesi, Mark E ME; Yang, Paul P

Publication Date: 2019-06

Variant appearance in text: ABCA4: 4469G>A

PubMed Link: 30771335

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: 4469G>A; Cys1490Tyr

PubMed Link: 30718709

Variant Present in the following documents:

• 41598_2018_38007_MOESM2_ESM.xlsx, sheet 1

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Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides.

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

Sangermano, Riccardo R; Garanto, Alejandro A; Khan, Mubeen M; Runhart, Esmee H EH; Bauwens, Miriam M; Bax, Nathalie M NM; van den Born, L Ingeborgh LI; Khan, Muhammad Imran MI; Cornelis, Stéphanie S SS; Verheij, Joke B G M JBGM; Pott, Jan-Willem R JR; Thiadens, Alberta A H J AAHJ; Klaver, Caroline C W CCW; Puech, Bernard B; Meunier, Isabelle I; Naessens, Sarah S; Arno, Gavin G; Fakin, Ana A; Carss, Keren J KJ; Raymond, F Lucy FL; Webster, Andrew R AR; Dhaenens, Claire-Marie CM; Stöhr, Heidi H; Grassmann, Felix F; Weber, Bernhard H F BHF; Hoyng, Carel B CB; De Baere, Elfride E; Albert, Silvia S; Collin, Rob W J RWJ; Cremers, Frans P M FPM

Publication Date: 2019-08

Variant appearance in text: ABCA4: 4469G>A

PubMed Link: 30643219

Variant Present in the following documents:

• Main text
• 41436_2018_Article_414.pdf

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CLINICAL CHARACTERIZATION OF STARGARDT DISEASE PATIENTS WITH THE p.N1868I ABCA4 MUTATION.

Retina (Philadelphia, Pa.)

Collison, Frederick T FT; Lee, Winston W; Fishman, Gerald A GA; Park, Jason C JC; Zernant, Jana J; McAnany, J Jason JJ; Allikmets, Rando R

Publication Date: 2019-12

Variant appearance in text: ABCA4: 4469G>A; C1490Y

PubMed Link: 30204727

Variant Present in the following documents:

• Main text

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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: ABCA4: 4469G>A

PubMed Link: 29925512

Variant Present in the following documents:

• Main text
• bjophthalmol-2018-312064.pdf
• bjophthalmol-2018-312064supp004.pdf

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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: 4469G>A

PubMed Link: 29884405

Variant Present in the following documents:

• Main text
• main.pdf

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Retinal phenotypic characterization of patients with ABCA4 retinopathydue to the homozygous p.Ala1773Val mutation.

Molecular Vision

López-Rubio, Salvador S; Chacon-Camacho, Oscar F OF; Matsui, Rodrigo R; Guadarrama-Vallejo, Dalia D; Astiazarán, Mirena C MC; Zenteno, Juan C JC

Publication Date: 2018

Variant appearance in text: STGD1: C1490Y

PubMed Link: 29422768

Variant Present in the following documents:

• Main text
• mv-v24-105.pdf

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Early Patterns of Macular Degeneration in ABCA4-Associated Retinopathy.

Ophthalmology

Khan, Kamron N KN; Kasilian, Melissa M; Mahroo, Omar A R OAR; Tanna, Preena P; Kalitzeos, Angelos A; Robson, Anthony G AG; Tsunoda, Kazushige K; Iwata, Takeshi T; Moore, Anthony T AT; Fujinami, Kaoru K; Michaelides, Michel M

Publication Date: 2018-05

Variant appearance in text: STGD1: 4469G>A

PubMed Link: 29310964

Variant Present in the following documents:

• mmc2.pdf

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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: 4469G>A; Cys1490Tyr

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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Frequent hypomorphic alleles account for a significant fraction of ABCA4 disease and distinguish it from age-related macular degeneration.

Journal Of Medical Genetics

Zernant, Jana J; Lee, Winston W; Collison, Frederick T FT; Fishman, Gerald A GA; Sergeev, Yuri V YV; Schuerch, Kaspar K; Sparrow, Janet R JR; Tsang, Stephen H SH; Allikmets, Rando R

Publication Date: 2017-06

Variant appearance in text: ABCA4: 4469G>A

PubMed Link: 28446513

Variant Present in the following documents:

• Main text

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Highly sensitive measurements of disease progression in rare disorders: Developing and validating a multimodal model of retinal degeneration in Stargardt disease.

Plos One

Lambertus, Stanley S; Bax, Nathalie M NM; Fakin, Ana A; Groenewoud, Joannes M M JM; Klevering, B Jeroen BJ; Moore, Anthony T AT; Michaelides, Michel M; Webster, Andrew R AR; van der Wilt, Gert Jan GJ; Hoyng, Carel B CB

Publication Date: 2017

Variant appearance in text: ABCA4: 4469G>A

PubMed Link: 28355279

Variant Present in the following documents:

• Main text

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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: 4469G>A

PubMed Link: 28118664

Variant Present in the following documents:

• Main text
• iovs-57-15-69_s01.pdf
• iovs-57-15-69_s05.pdf
• iovs-57-15-69_s04.pdf

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Molecular findings from 537 individuals with inherited retinal disease.

Journal Of Medical Genetics

Ellingford, Jamie M JM; Barton, Stephanie S; Bhaskar, Sanjeev S; O'Sullivan, James J; Williams, Simon G SG; Lamb, Janine A JA; Panda, Binay B; Sergouniotis, Panagiotis I PI; Gillespie, Rachel L RL; Daiger, Stephen P SP; Hall, Georgina G; Gale, Theodora T; Lloyd, I Christopher IC; Bishop, Paul N PN; Ramsden, Simon C SC; Black, Graeme C M GCM

Publication Date: 2016-11

Variant appearance in text: ABCA4: 4469G>A; Cys1490Tyr

PubMed Link: 27208204

Variant Present in the following documents:

• jmedgenet-2016-103837supp_tables.pdf

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Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease.

Ophthalmology

Ellingford, Jamie M JM; Barton, Stephanie S; Bhaskar, Sanjeev S; Williams, Simon G SG; Sergouniotis, Panagiotis I PI; O'Sullivan, James J; Lamb, Janine A JA; Perveen, Rahat R; Hall, Georgina G; Newman, William G WG; Bishop, Paul N PN; Roberts, Stephen A SA; Leach, Rick R; Tearle, Rick R; Bayliss, Stuart S; Ramsden, Simon C SC; Nemeth, Andrea H AH; Black, Graeme C M GC

Publication Date: 2016-05

Variant appearance in text: ABCA4: 4469G>A

PubMed Link: 26872967

Variant Present in the following documents:

• mmc8.pdf

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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: C1490Y

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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