Publications:

Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics

Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,

Publication Date: 2022-12-01

Variant appearance in text: ABCA4: P1511R

PubMed Link: 36413997

Variant Present in the following documents:

• mmc4.xlsx, sheet 1

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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: 4532C>G; Pro1511Arg

PubMed Link: 36178783

Variant Present in the following documents:

• tvst-11-9-34_s002.pdf

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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: P1511R

PubMed Link: 32884132

Variant Present in the following documents:

• NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 6

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Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements.

Human Genetics

Wang, Feng F; Wang, Hui H; Tuan, Han-Fang HF; Nguyen, Duy H DH; Sun, Vincent V; Keser, Vafa V; Bowne, Sara J SJ; Sullivan, Lori S LS; Luo, Hongrong H; Zhao, Ling L; Wang, Xia X; Zaneveld, Jacques E JE; Salvo, Jason S JS; Siddiqui, Sorath S; Mao, Louise L; Wheaton, Dianna K DK; Birch, David G DG; Branham, Kari E KE; Heckenlively, John R JR; Wen, Cindy C; Flagg, Ken K; Ferreyra, Henry H; Pei, Jacqueline J; Khan, Ayesha A; Ren, Huanan H; Wang, Keqing K; Lopez, Irma I; Qamar, Raheel R; Zenteno, Juan C JC; Ayala-Ramirez, Raul R; Buentello-Volante, Beatriz B; Fu, Qing Q; Simpson, David A DA; Li, Yumei Y; Sui, Ruifang R; Silvestri, Giuliana G; Daiger, Stephen P SP; Koenekoop, Robert K RK; Zhang, Kang K; Chen, Rui R

Publication Date: 2014-03

Variant appearance in text: ABCA4: 4532C>G; P1511R

PubMed Link: 24154662

Variant Present in the following documents:

• Main text

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

Human Molecular Genetics

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

Publication Date: 2010-10-01

Variant appearance in text: ABCA4: Pro1511Arg

PubMed Link: 20647261

Variant Present in the following documents:

• supp_ddq284_ddq284supp_Table.xls, sheet 1

View BVdb publication page