Publications:

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Identification of genetic alterations in couples and their products of conceptions from recurrent pregnancy loss in North Indian population.

Frontiers In Genetics

Srivastava, Priyanka P; Bamba, Chitra C; Chopra, Seema S; Rohilla, Minakshi M; Chaudhry, Chakshu C; Kaur, Anupriya A; Panigrahi, Inusha I; Mandal, Kausik K

Publication Date: 2023

Variant appearance in text: ABCA4: 5882G>A; Gly1961Glu

PubMed Link: 37260775

Variant Present in the following documents:

• Main text
• fgene-14-1155211.pdf

View BVdb publication page

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Nationwide genetic analysis of more than 600 families with inherited eye diseases in Argentina.

Npj Genomic Medicine

Schlottmann, Patricio G PG; Luna, José D JD; Labat, Natalia N; Yadarola, María Belén MB; Bainttein, Silvina S; Esposito, Evangelina E; Ibañez, Agustina A; Barbaro, Evangelina Ivón EI; Álvarez Mendiara, Alejandro A; Picotti, Carolina P CP; Chirino Misisian, Andrea A; Andreussi, Luciana L; Gras, Julieta J; Capalbo, Luciana L; Visotto, Mauro M; Dipierri, José E JE; Alcoba, Emilio E; Fernández Gabrielli, Laura L; Ávila, Silvia S; Aucar, María Emilia ME; Martin, Daniel M DM; Ormaechea, Gerardo Juan GJ; Inga, M Eugenia ME; Francone, Aníbal A AA; Charles, Martin M; Zompa, Tamara T; Pérez, Pablo Javier PJ; Lotersztein, Vanesa V; Nuova, Pedro J PJ; Canonero, Ivana B IB; Mahroo, Omar A OA; Michaelides, Michel M; Arno, Gavin G; Daich Varela, Malena M

Publication Date: 2023-05-22

Variant appearance in text: ABCA4: 5882G>A; Gly1961Glu

PubMed Link: 37217489

Variant Present in the following documents:

• Main text
• 41525_2023_Article_352.pdf
• 41525_2023_352_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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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: 5882G>A

PubMed Link: 37127645

Variant Present in the following documents:

• Main text
• 12920_2023_Article_1518.pdf
• 12920_2023_1518_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Monitoring Lesion Area Progression in Stargardt Disease: A Comparison of En Face Optical Coherence Tomography and Fundus Autofluorescence.

Translational Vision Science & Technology

Greenstein, Vivienne C VC; Castillejos, David S DS; Tsang, Stephen H SH; Lee, Winston W; Sparrow, Janet R JR; Allikmets, Rando R; Birch, David G DG; Hood, Donald C DC

Publication Date: 2023-05-01

Variant appearance in text: ABCA4: 5882G>A; Gly1961Glu

PubMed Link: 37126335

Variant Present in the following documents:

• Main text
• tvst-12-5-2_s001.pdf
• tvst-12-5-2.pdf

View BVdb publication page

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eIF2α incites photoreceptor cell and retina damage by all-trans-retinal.

The Journal Of Biological Chemistry

He, Danxue D; Tao, Lei L; Cai, Binxiang B; Chen, Xiangjun X; Wang, Yan Y; Li, Shiying S; Liao, Chunyan C; Chen, Yuling Y; Chen, Jingmeng J; Liu, Zuguo Z; Wu, Yalin Y

Publication Date: 2023-04-07

Variant appearance in text: ABCA4: G1961E

PubMed Link: 37031820

Variant Present in the following documents:

• main.pdf

View BVdb publication page

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De Novo Mutations Contributes Approximately 7% of Pathogenicity in Inherited Eye Diseases.

Investigative Ophthalmology & Visual Science

Li, Wei W; He, Xiang-Dong XD; Yang, Zheng-Tao ZT; Han, Dong-Ming DM; Sun, Yan Y; Chen, Yan-Xian YX; Han, Xiao-Tong XT; Guo, Si-Cheng SC; Ma, Yu-Ting YT; Jin, Xin X; Yang, Huan-Ming HM; Gao, Ya Y; Wang, Zhuo-Shi ZS; Li, Jian-Kang JK; He, Wei W

Publication Date: 2023-02-01

Variant appearance in text: ABCA4: 5882G>A; G1961E; rs1800553

PubMed Link: 36729443

Variant Present in the following documents:

• iovs-64-2-5_s003.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: 5882G>A; Gly1961Glu

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: 5882G>A

PubMed Link: 36672932

Variant Present in the following documents:

• genes-14-00191.pdf

View BVdb publication page

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Secondary findings in a large Pakistani cohort tested with whole genome sequencing.

Life Science Alliance

Skrahin, Aliaksandr A; Cheema, Huma Arshad HA; Hussain, Maqbool M; Rana, Nuzhat Noureen NN; Rehman, Khalil Ur KU; Kumar, Raman R; Oprea, Gabriela G; Ameziane, Najim N; Rolfs, Arndt A; Skrahina, Volha V

Publication Date: 2023-03

Variant appearance in text: ABCA4: 5882G>A; Gly1961Glu

PubMed Link: 36635046

Variant Present in the following documents:

• LSA-2022-01673_TableS2.xlsx, sheet 1

View BVdb publication page

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Investigation of Structural Alterations in Inherited Retinal Diseases: A Quantitative SD-OCT-Analysis of Retinal Layer Thicknesses in Light of Underlying Genetic Mutations.

International Journal Of Molecular Sciences

Gersch, Julia J; Hufendiek, Katerina K; Delarocque, Julien J; Framme, Carsten C; Jacobsen, Christina C; Stöhr, Heidi H; Kellner, Ulrich U; Hufendiek, Karsten K

Publication Date: 2022-12-16

Variant appearance in text: ABCA4: 5882G>A

PubMed Link: 36555650

Variant Present in the following documents:

• ijms-23-16007.pdf

View BVdb publication page

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Correction of the Splicing Defect Caused by a Recurrent Variant in ABCA4 (c.769-784C>T) That Underlies Stargardt Disease.

Cells

Tomkiewicz, Tomasz Z TZ; Nieuwenhuis, Sara E SE; Cremers, Frans P M FPM; Garanto, Alejandro A; Collin, Rob W J RWJ

Publication Date: 2022-12-07

Variant appearance in text: ABCA4: 5882G>A

PubMed Link: 36552712

Variant Present in the following documents:

• Main text
• cells-11-03947.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: 5882G>A

PubMed Link: 36460718

Variant Present in the following documents:

• Main text
• 41598_2022_24636_MOESM2_ESM.xlsx, sheet 1
• 41598_2022_24636_MOESM2_ESM.xlsx, sheet 2
• 41598_2022_Article_24636.pdf

View BVdb publication page

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Establishment of the iPSC line CUIMCi005-A from a patient with Stargardt disease for retinal organoid culture.

Stem Cell Research

Su, Pei-Yin PY; Lee, Winston W; Zernant, Jana J; Tsang, Stephen H SH; Nagasaki, Takayuki T; Corneo, Barbara B; Allikmets, Rando R

Publication Date: 2022-12

Variant appearance in text: ABCA4: 5882G>A; Gly1961Glu

PubMed Link: 36455383

Variant Present in the following documents:

• Main text
• nihms-1857145.pdf

View BVdb publication page

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Evolution of focal choroidal excavation in ABCA4-related retinopathy.

American Journal Of Ophthalmology Case Reports

Benson, Matthew D MD; Feldman, Carly B CB; Zein, Wadih M WM

Publication Date: 2022-12

Variant appearance in text: ABCA4: 5882G>A; Gly1961Glu

PubMed Link: 36393906

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Bioengineering Human Pluripotent Stem Cell-Derived Retinal Organoids and Optic Vesicle-Containing Brain Organoids for Ocular Diseases.

Cells

Arthur, Peggy P; Muok, Laureana L; Nathani, Aakash A; Zeng, Eric Z EZ; Sun, Li L; Li, Yan Y; Singh, Mandip M

Publication Date: 2022-10-30

Variant appearance in text: STGD1: Gly1961Glu

PubMed Link: 36359825

Variant Present in the following documents:

• Main text
• cells-11-03429.pdf

View BVdb publication page

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Using single molecule Molecular Inversion Probes as a cost-effective, high-throughput sequencing approach to target all genes and loci associated with macular diseases.

Human Mutation

Hitti-Malin, Rebekkah J RJ; Dhaenens, Claire-Marie CM; Panneman, Daan M DM; Corradi, Zelia Z; Khan, Mubeen M; den Hollander, Anneke I AI; Farrar, G Jane GJ; Gilissen, Christian C; Hoischen, Alexander A; van de Vorst, Maartje M; Bults, Femke F; Boonen, Erica G M EGM; Saunders, Patrick P; , ; Roosing, Susanne S; Cremers, Frans P M FPM

Publication Date: 2022-10-19

Variant appearance in text: ABCA4: 5882G>A; Gly1961Glu

PubMed Link: 36259723

Variant Present in the following documents:

• Main text
• HUMU-43-2234-s009.xlsx, sheet 1
• HUMU-43-2234-s014.xlsx, sheet 1
• HUMU-43-2234-s001.xlsx, sheet 1
• HUMU-43-2234.pdf
• HUMU-43-2234-s006.xlsx, sheet 1

View BVdb publication page

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Whole-exome sequencing analysis in a case of primary congenital glaucoma due to the partial uniparental isodisomy.

Genomics & Informatics

Zavarzadeh, Parisima Ghaffarian PG; Bonyadi, Morteza M; Abedi, Zahra Z

Publication Date: 2022-09

Variant appearance in text: ABCA4: G1961E

PubMed Link: 36239105

Variant Present in the following documents:

• gi-21044.pdf

View BVdb publication page

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Assessing clinical utility of preconception expanded carrier screening regarding residual risk for neurodevelopmental disorders.

Npj Genomic Medicine

Boonsawat, Paranchai P; Horn, Anselm H C AHC; Steindl, Katharina K; Baumer, Alessandra A; Joset, Pascal P; Kraemer, Dennis D; Bahr, Angela A; Ivanovski, Ivan I; Cabello, Elena M EM; Papik, Michael M; Zweier, Markus M; Oneda, Beatrice B; Sirleto, Pietro P; Burkhardt, Tilo T; Sticht, Heinrich H; Rauch, Anita A

Publication Date: 2022-07-29

Variant appearance in text: ABCA4: 5882G>A; Gly1961Glu

PubMed Link: 35906228

Variant Present in the following documents:

• 41525_2022_316_MOESM3_ESM.xlsx, sheet 4

View BVdb publication page

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The Role of the Choroid in Stargardt Disease.

International Journal Of Molecular Sciences

Abdolrahimzadeh, Solmaz S; Formisano, Martina M; Di Pippo, Mariachiara M; Lodesani, Manuel M; Lotery, Andrew John AJ

Publication Date: 2022-07-09

Variant appearance in text: ABCA4: Gly1961Glu

PubMed Link: 35886953

Variant Present in the following documents:

• Main text
• ijms-23-07607.pdf

View BVdb publication page

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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: 5882G>A; Gly1961Glu; rs1800553

PubMed Link: 35836572

Variant Present in the following documents:

• Table1.xlsx, sheet 2
• Table1.xlsx, sheet 5
• Table1.xlsx, sheet 7

View BVdb publication page

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Genetic dissection of non-syndromic retinitis pigmentosa.

Indian Journal Of Ophthalmology

Bhardwaj, Aarti A; Yadav, Anshu A; Yadav, Manoj M; Tanwar, Mukesh M

Publication Date: 2022-07

Variant appearance in text: ABCA4: Gly1961Glu

PubMed Link: 35791117

Variant Present in the following documents:

• IJO-70-2355.pdf

View BVdb publication page

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ABCA4 c.859-25A>G, a Frequent Palestinian Founder Mutation Affecting the Intron 7 Branchpoint, Is Associated With Early-Onset Stargardt Disease.

Investigative Ophthalmology & Visual Science

Corradi, Zelia Z; Salameh, Manar M; Khan, Mubeen M; Héon, Elise E; Mishra, Ketan K; Hitti-Malin, Rebekkah J RJ; AlSwaiti, Yahya Y; Aslanian, Alice A; Banin, Eyal E; Brooks, Brian P BP; Zein, Wadih M WM; Hufnagel, Robert B RB; Roosing, Susanne S; Dhaenens, Claire-Marie CM; Sharon, Dror D; Cremers, Frans P M FPM; AlTalbishi, Alaa A

Publication Date: 2022-04-01

Variant appearance in text: STGD1: 5882G>A

PubMed Link: 35475888

Variant Present in the following documents:

• Main text
• iovs-63-4-20.pdf
• iovs-63-4-20_s001.pdf
• iovs-63-4-20_s002.pdf

View BVdb publication page

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Case Report: A Novel Pathomechanism in PEComa by the Loss of Heterozygosity of TP53.

Frontiers In Oncology

Butz, Henriett H; Lövey, József J; Szentkereszty, Márton M; Bozsik, Anikó A; Tóth, Erika E; Patócs, Attila A

Publication Date: 2022

Variant appearance in text: ABCA4: 5882G>A; G1961E; rs1800553

PubMed Link: 35419288

Variant Present in the following documents:

• Table_1.xlsx, sheet 1

View BVdb publication page

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Best practices for the interpretation and reporting of clinical whole genome sequencing.

Npj Genomic Medicine

Austin-Tse, Christina A CA; Jobanputra, Vaidehi V; Perry, Denise L DL; Bick, David D; Taft, Ryan J RJ; Venner, Eric E; Gibbs, Richard A RA; Young, Ted T; Barnett, Sarah S; Belmont, John W JW; Boczek, Nicole N; Chowdhury, Shimul S; Ellsworth, Katarzyna A KA; Guha, Saurav S; Kulkarni, Shashikant S; Marcou, Cherisse C; Meng, Linyan L; Murdock, David R DR; Rehman, Atteeq U AU; Spiteri, Elizabeth E; Thomas-Wilson, Amanda A; Kearney, Hutton M HM; Rehm, Heidi L HL; ,

Publication Date: 2022-04-08

Variant appearance in text: ABCA4: 5882G>A; Gly1961Glu

PubMed Link: 35395838

Variant Present in the following documents:

• 41525_2022_295_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Kinetics of Heterogeneous Background in Stargardt's Disease over Time.

Life (Basel, Switzerland)

Rodríguez-Bocanegra, Eduardo E; Biarnés, Marc M; Garcia, Míriam M; Ferraro, Lucía Lee LL; Fischer, Manuel Dominik MD; Monés, Jordi J

Publication Date: 2022-03-06

Variant appearance in text: ABCA4: Gly1961Glu

PubMed Link: 35330133

Variant Present in the following documents:

• life-12-00381.pdf

View BVdb publication page

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Genetic characteristics of 234 Italian patients with macular and cone/cone-rod dystrophy.

Scientific Reports

Falsini, Benedetto B; Placidi, Giorgio G; De Siena, Elisa E; Chiurazzi, Pietro P; Minnella, Angelo Maria AM; Savastano, Maria Cristina MC; Ziccardi, Lucia L; Parisi, Vincenzo V; Iarossi, Giancarlo G; Percio, Marcella M; Piteková, Barbora B; Marceddu, Giuseppe G; Maltese, Paolo Enrico PE; Bertelli, Matteo M

Publication Date: 2022-03-08

Variant appearance in text: ABCA4: 5882G>A

PubMed Link: 35260635

Variant Present in the following documents:

• 41598_2022_Article_7618.pdf
• 41598_2022_7618_MOESM1_ESM.pdf

View BVdb publication page

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The Scope of Pathogenic ABCA4 Mutations Targetable by CRISPR DNA Base Editing Systems-A Systematic Review.

Frontiers In Genetics

Piotter, Elena E; McClements, Michelle E ME; MacLaren, Robert E RE

Publication Date: 2021

Variant appearance in text: ABCA4: 5882G>A

PubMed Link: 35154257

Variant Present in the following documents:

• Main text

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: 5882G>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: 5882G>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: G1961E; rs1800553

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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Comparisons Among Optical Coherence Tomography and Fundus Autofluorescence Modalities as Measurements of Atrophy in ABCA4-Associated Disease.

Translational Vision Science & Technology

Parmann, Rait R; Tsang, Stephen H SH; Zernant, Jana J; Allikmets, Rando R; Greenstein, Vivienne C VC; Sparrow, Janet R JR

Publication Date: 2022-01-03

Variant appearance in text: ABCA4: 5882G>A

PubMed Link: 35089312

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Comparisons Among Optical Coherence Tomography and Fundus Autofluorescence Modalities as Measurements of Atrophy in ABCA4-Associated Disease.

Translational Vision Science & Technology

Parmann, Rait R; Tsang, Stephen H SH; Zernant, Jana J; Allikmets, Rando R; Greenstein, Vivienne C VC; Sparrow, Janet R JR

Publication Date: 2022-01-03

Variant appearance in text: ABCA4: 5882G>A

PubMed Link: 35089312

Variant Present in the following documents:

• Main text

View BVdb publication page

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The QChip1 knowledgebase and microarray for precision medicine in Qatar.

Npj Genomic Medicine

Rodriguez-Flores, Juan L JL; Messai-Badji, Radja R; Robay, Amal A; Temanni, Ramzi R; Syed, Najeeb N; Markovic, Monika M; Al-Khayat, Eiman E; Qafoud, Fatima F; Nawaz, Zafar Z; Badii, Ramin R; Al-Sarraj, Yasser Y; Mbarek, Hamdi H; Al-Muftah, Wadha W; Alvi, Muhammad M; Rostami, Mahboubeh R MR; Cruzado, Juan Carlos Martinez JCM; Mezey, Jason G JG; Shakaki, Alya Al AA; Malek, Joel A JA; Greenblatt, Matthew B MB; Fakhro, Khalid A KA; Machaca, Khaled K; Al-Nabet, Ajayeb A; Afifi, Nahla N; Brooks, Andrew A; Ismail, Said I SI; Althani, Asmaa A; Crystal, Ronald G RG

Publication Date: 2022-01-19

Variant appearance in text: rs1800553

PubMed Link: 35046417

Variant Present in the following documents:

• Main text
• 41525_2021_Article_270.pdf

View BVdb publication page

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The QChip1 knowledgebase and microarray for precision medicine in Qatar.

Npj Genomic Medicine

Rodriguez-Flores, Juan L JL; Messai-Badji, Radja R; Robay, Amal A; Temanni, Ramzi R; Syed, Najeeb N; Markovic, Monika M; Al-Khayat, Eiman E; Qafoud, Fatima F; Nawaz, Zafar Z; Badii, Ramin R; Al-Sarraj, Yasser Y; Mbarek, Hamdi H; Al-Muftah, Wadha W; Alvi, Muhammad M; Rostami, Mahboubeh R MR; Cruzado, Juan Carlos Martinez JCM; Mezey, Jason G JG; Shakaki, Alya Al AA; Malek, Joel A JA; Greenblatt, Matthew B MB; Fakhro, Khalid A KA; Machaca, Khaled K; Al-Nabet, Ajayeb A; Afifi, Nahla N; Brooks, Andrew A; Ismail, Said I SI; Althani, Asmaa A; Crystal, Ronald G RG

Publication Date: 2022-01-19

Variant appearance in text: rs1800553

PubMed Link: 35046417

Variant Present in the following documents:

• Main text
• 41525_2021_Article_270.pdf

View BVdb publication page

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The role of multimodal imaging and vision function testing in ABCA4-related retinopathies and their relevance to future therapeutic interventions.

Therapeutic Advances In Ophthalmology

Al-Khuzaei, Saoud S; Shah, Mital M; Foster, Charlotte R CR; Yu, Jing J; Broadgate, Suzanne S; Halford, Stephanie S; Downes, Susan M SM

Publication Date: 2021

Variant appearance in text: ABCA4: Gly1961Glu

PubMed Link: 34988368

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genotype-Specific Lesion Growth Rates in Stargardt Disease.

Genes

Heath Jeffery, Rachael C RC; Thompson, Jennifer A JA; Lo, Johnny J; Lamey, Tina M TM; McLaren, Terri L TL; McAllister, Ian L IL; Constable, Ian J IJ; De Roach, John N JN; Chen, Fred K FK

Publication Date: 2021-12-14

Variant appearance in text: ABCA4: 5882G>A

PubMed Link: 34946930

Variant Present in the following documents:

• Main text
• genes-12-01981.pdf

View BVdb publication page

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Genotype-Specific Lesion Growth Rates in Stargardt Disease.

Genes

Heath Jeffery, Rachael C RC; Thompson, Jennifer A JA; Lo, Johnny J; Lamey, Tina M TM; McLaren, Terri L TL; McAllister, Ian L IL; Constable, Ian J IJ; De Roach, John N JN; Chen, Fred K FK

Publication Date: 2021-12-14

Variant appearance in text: ABCA4: 5882G>A

PubMed Link: 34946930

Variant Present in the following documents:

• Main text
• genes-12-01981.pdf

View BVdb publication page

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Deep Learning to Distinguish ABCA4-Related Stargardt Disease from PRPH2-Related Pseudo-Stargardt Pattern Dystrophy.

Journal Of Clinical Medicine

Miere, Alexandra A; Zambrowski, Olivia O; Kessler, Arthur A; Mehanna, Carl-Joe CJ; Pallone, Carlotta C; Seknazi, Daniel D; Denys, Paul P; Amoroso, Francesca F; Petit, Eric E; Souied, Eric H EH

Publication Date: 2021-12-08

Variant appearance in text: ABCA4: 5882G>A

PubMed Link: 34945039

Variant Present in the following documents:

• Main text

View BVdb publication page

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Deep Learning to Distinguish ABCA4-Related Stargardt Disease from PRPH2-Related Pseudo-Stargardt Pattern Dystrophy.

Journal Of Clinical Medicine

Miere, Alexandra A; Zambrowski, Olivia O; Kessler, Arthur A; Mehanna, Carl-Joe CJ; Pallone, Carlotta C; Seknazi, Daniel D; Denys, Paul P; Amoroso, Francesca F; Petit, Eric E; Souied, Eric H EH

Publication Date: 2021-12-08

Variant appearance in text: ABCA4: 5882G>A

PubMed Link: 34945039

Variant Present in the following documents:

• Main text

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: 5882G>A

PubMed Link: 34874912

Variant Present in the following documents:

• jciinsight-7-156154-s174.xlsx, sheet 1

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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: 5882G>A; rs1800553

PubMed Link: 34807235

Variant Present in the following documents:

• Main text

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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: 5882G>A

PubMed Link: 34795310

Variant Present in the following documents:

• 41525_2021_261_MOESM2_ESM.pdf

View BVdb publication page

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