Publications:

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Genetic variants in African-American and Hispanic patients with breast cancer.

Oncology Letters

Dutta, Pranabananda P; Keung, Man Y MY; Wu, Yanyuan Y; Vadgama, Jaydutt V JV

Publication Date: 2023-02

Variant appearance in text: ABCA4: 2546T>C; V849A

PubMed Link: 36644153

Variant Present in the following documents:

• Supplementary_Data5.xlsx, sheet 1

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Identification of numerous novel disease-causing variants in patients with inherited retinal diseases, combining careful clinical-functional phenotyping with systematic, broad NGS panel-based genotyping.

Molecular Vision

Gupta, Priya R PR; Kheir, Wajiha W; Peng, Bo B; Duan, Jie J; Chiang, John P-W JP; Iannaccone, Alessandro A

Publication Date: 2022

Variant appearance in text: ABCA4: 2546T>C

PubMed Link: 36284670

Variant Present in the following documents:

• Main text
• mv-v28-203.pdf

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Functional Characterization of ABCA4 Missense Variants Linked to Stargardt Macular Degeneration.

International Journal Of Molecular Sciences

Garces, Fabian A FA; Scortecci, Jessica F JF; Molday, Robert S RS

Publication Date: 2020-12-27

Variant appearance in text: ABCA4: V849A

PubMed Link: 33375396

Variant Present in the following documents:

• Main text
• ijms-22-00185.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: V849A

PubMed Link: 32884132

Variant Present in the following documents:

• NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 6

View BVdb publication page

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Genetic screening for macular dystrophies in patients clinically diagnosed with dry age-related macular degeneration.

Clinical Genetics

Kersten, Eveline E; Geerlings, Maartje J MJ; Pauper, Marc M; Corominas, Jordi J; Bakker, Bjorn B; Altay, Lebriz L; Fauser, Sascha S; de Jong, Eiko K EK; Hoyng, Carel B CB; den Hollander, Anneke I AI

Publication Date: 2018-12

Variant appearance in text: ABCA4: 2546T>C

PubMed Link: 30215852

Variant Present in the following documents:

• Main text
• CGE-94-569-s001.pdf
• CGE-94-569.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: 2546T>C

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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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: V849A

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: V849A; rs61749435

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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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: V849A

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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Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation.

Orphanet Journal Of Rare Diseases

Boulanger-Scemama, Elise E; El Shamieh, Said S; Démontant, Vanessa V; Condroyer, Christel C; Antonio, Aline A; Michiels, Christelle C; Boyard, Fiona F; Saraiva, Jean-Paul JP; Letexier, Mélanie M; Souied, Eric E; Mohand-Saïd, Saddek S; Sahel, José-Alain JA; Zeitz, Christina C; Audo, Isabelle I

Publication Date: 2015-06-24

Variant appearance in text: ABCA4: 2546T>C; rs61749435

PubMed Link: 26103963

Variant Present in the following documents:

View BVdb publication page

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High Diagnostic Yield of Whole Exome Sequencing in Participants With Retinal Dystrophies in a Clinical Ophthalmology Setting.

American Journal Of Ophthalmology

Lee, Kristy K; Berg, Jonathan S JS; Milko, Laura L; Crooks, Kristy K; Lu, Mei M; Bizon, Chris C; Owen, Phillips P; Wilhelmsen, Kirk C KC; Weck, Karen E KE; Evans, James P JP; Garg, Seema S

Publication Date: 2015-08

Variant appearance in text: ABCA4: 2546T>C; Val849Ala

PubMed Link: 25910913

Variant Present in the following documents:

• Main text

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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: 2546T>C

PubMed Link: 25066811

Variant Present in the following documents:

• Main text

View BVdb publication page

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Population-specific common SNPs reflect demographic histories and highlight regions of genomic plasticity with functional relevance.

Bmc Genomics

Choudhury, Ananyo A; Hazelhurst, Scott S; Meintjes, Ayton A; Achinike-Oduaran, Ovokeraye O; Aron, Shaun S; Gamieldien, Junaid J; Jalali Sefid Dashti, Mahjoubeh M; Mulder, Nicola N; Tiffin, Nicki N; Ramsay, Michèle M

Publication Date: 2014-06-06

Variant appearance in text: rs61749435

PubMed Link: 24906912

Variant Present in the following documents:

• Main text
• 12864_2013_Article_6211.pdf

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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: val849ala

PubMed Link: 20935302

Variant Present in the following documents:

• Main text

View BVdb publication page

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