Publications:

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Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome.

Human Genetics

Tollefson, Mallory R MR; Gogal, Rose A RA; Weaver, A Monique AM; Schaefer, Amanda M AM; Marini, Robert J RJ; Azaiez, Hela H; Kolbe, Diana L DL; Wang, Donghong D; Weaver, Amy E AE; Casavant, Thomas L TL; Braun, Terry A TA; Smith, Richard J H RJH; Schnieders, Michael J MJ

Publication Date: 2023-04-22

Variant appearance in text: USH2A: 7718G>C; Arg2573Pro

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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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: USH2A: R2573P; rs189748047

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Novel biallelic USH2A variants in a patient with usher syndrome type IIA- a case report.

Bmc Ophthalmology

Young, Su Ling SL; Stanton, Chloe M CM; Livesey, Benjamin J BJ; Marsh, Joseph A JA; Cackett, Peter D PD

Publication Date: 2022-03-26

Variant appearance in text: rs189748047

PubMed Link: 35346118

Variant Present in the following documents:

• 12886_2022_2353_MOESM3_ESM.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: USH2A: 7718G>C; Arg2573Pro

PubMed Link: 31165590

Variant Present in the following documents:

• MGG3-7-e00748-s004.xlsx, sheet 1

View BVdb publication page

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Replication of a rare risk haplotype on 1p36.33 for autism spectrum disorder.

Human Genetics

Chapman, N H NH; Bernier, R A RA; Webb, S J SJ; Munson, J J; Blue, E M EM; Chen, D-H DH; Heigham, E E; Raskind, W H WH; Wijsman, Ellen M EM

Publication Date: 2018-10

Variant appearance in text: rs189748047

PubMed Link: 30276537

Variant Present in the following documents:

• Main text

View BVdb publication page

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Whole exome sequencing in extended families with autism spectrum disorder implicates four candidate genes.

Human Genetics

Chapman, Nicola H NH; Nato, Alejandro Q AQ; Bernier, Raphael R; Ankenman, Katy K; Sohi, Harkirat H; Munson, Jeff J; Patowary, Ashok A; Archer, Marilyn M; Blue, Elizabeth M EM; Webb, Sara Jane SJ; Coon, Hilary H; Raskind, Wendy H WH; Brkanac, Zoran Z; Wijsman, Ellen M EM

Publication Date: 2015-10

Variant appearance in text: rs189748047

PubMed Link: 26204995

Variant Present in the following documents:

• Main text

View BVdb publication page

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