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: WFS1: 2492G>A; Gly831Asp

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

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A Novel Missense WFS1 Variant: Expanding the Mutational Spectrum Associated with Nonsyndromic Low-Frequency Sensorineural Hearing Loss.

Biomed Research International

Ma, Jingyu J; Wang, Rongrong R; Zhang, Li L; Wang, Shanshan S; Tong, Shuqing S; Bai, Xiaohui X; Lu, Zhiming Z

Publication Date: 2022

Variant appearance in text: WFS1: 2492G>A

PubMed Link: 36225977

Variant Present in the following documents:

• BMRI2022-5068869.pdf

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Recurrent de novo WFS1 pathogenic variants in Chinese sporadic patients with nonsyndromic sensorineural hearing loss.

Molecular Genetics & Genomic Medicine

Guan, Jing J; Wang, Hongyang H; Lan, Lan L; Wu, Yusen Y; Chen, Guohui G; Zhao, Cui C; Wang, Dayong D; Wang, Qiuju Q

Publication Date: 2020-08

Variant appearance in text: WFS1: 2492G>A

PubMed Link: 32567228

Variant Present in the following documents:

• Main text
• MGG3-8-e1367.pdf

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Systematic analysis of the intersection of disease mutations with protein modifications.

Bmc Medical Genomics

Simpson, Claire M CM; Zhang, Bin B; Hornbeck, Peter V PV; Gnad, Florian F

Publication Date: 2019-07-25

Variant appearance in text: WFS1: G831D

PubMed Link: 31345222

Variant Present in the following documents:

• 12920_2019_543_MOESM6_ESM.xlsx, sheet 3

View BVdb publication page

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Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics

Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN

Publication Date: 2019-02-07

Variant appearance in text: WFS1: G831D; rs28937895

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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WFS1 mutation screening in a large series of Japanese hearing loss patients: Massively parallel DNA sequencing-based analysis.

Plos One

Kobayashi, Masafumi M; Miyagawa, Maiko M; Nishio, Shin-Ya SY; Moteki, Hideaki H; Fujikawa, Taro T; Ohyama, Kenji K; Sakaguchi, Hirofumi H; Miyanohara, Ikuyo I; Sugaya, Akiko A; Naito, Yasushi Y; Morita, Shin-Ya SY; Kanda, Yukihiko Y; Takahashi, Masahiro M; Ishikawa, Kotaro K; Nagano, Yuki Y; Tono, Tetsuya T; Oshikawa, Chie C; Kihara, Chiharu C; Takahashi, Haruo H; Noguchi, Yoshihiro Y; Usami, Shin-Ichi SI

Publication Date: 2018

Variant appearance in text: WFS1: 2492G>A

PubMed Link: 29529044

Variant Present in the following documents:

• Main text
• pone.0193359.pdf

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Comparative analysis of primary versus relapse/refractory DLBCL identifies shifts in mutation spectrum.

Oncotarget

Greenawalt, Danielle M DM; Liang, Winnie S WS; Saif, Sakina S; Johnson, Justin J; Todorov, Petar P; Dulak, Austin A; Enriquez, Daniel D; Halperin, Rebecca R; Ahmed, Ambar A; Saveliev, Vladislav V; Carpten, John J; Craig, David D; Barrett, J Carl JC; Dougherty, Brian B; Zinda, Michael M; Fawell, Stephen S; Dry, Jonathan R JR; Byth, Kate K

Publication Date: 2017-11-21

Variant appearance in text: WFS1: 2492G>A; G831D; rs28937895

PubMed Link: 29245897

Variant Present in the following documents:

• oncotarget-08-99237-s002.xlsx, sheet 1

View BVdb publication page

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Assessment of the ExAC data set for the presence of individuals with pathogenic genotypes implicated in severe Mendelian pediatric disorders.

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

Tarailo-Graovac, Maja M; Zhu, Jing Yun Alice JYA; Matthews, Allison A; van Karnebeek, Clara D M CDM; Wasserman, Wyeth W WW

Publication Date: 2017-12

Variant appearance in text: WFS1: G831D; rs28937895

PubMed Link: 28471432

Variant Present in the following documents:

• gim201750x2.xlsx, sheet 3

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Monogenic diabetes syndromes: Locus-specific databases for Alström, Wolfram, and Thiamine-responsive megaloblastic anemia.

Human Mutation

Astuti, Dewi D; Sabir, Ataf A; Fulton, Piers P; Zatyka, Malgorzata M; Williams, Denise D; Hardy, Carol C; Milan, Gabriella G; Favaretto, Francesca F; Yu-Wai-Man, Patrick P; Rohayem, Julia J; López de Heredia, Miguel M; Hershey, Tamara T; Tranebjaerg, Lisbeth L; Chen, Jian-Hua JH; Chaussenot, Annabel A; Nunes, Virginia V; Marshall, Bess B; McAfferty, Susan S; Tillmann, Vallo V; Maffei, Pietro P; Paquis-Flucklinger, Veronique V; Geberhiwot, Tarekign T; Mlynarski, Wojciech W; Parkinson, Kay K; Picard, Virginie V; Bueno, Gema Esteban GE; Dias, Renuka R; Arnold, Amy A; Richens, Caitlin C; Paisey, Richard R; Urano, Fumihiko F; Semple, Robert R; Sinnott, Richard R; Barrett, Timothy G TG

Publication Date: 2017-07

Variant appearance in text: WFS1: 2492G>A; Gly831Asp

PubMed Link: 28432734

Variant Present in the following documents:

• HUMU-38-764-s001.xlsx, sheet 1

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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: DFNA6: G831D; rs28937895

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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Phenotype Prediction of Pathogenic Nonsynonymous Single Nucleotide Polymorphisms in WFS1.

Scientific Reports

Qian, Xuli X; Qin, Luyang L; Xing, Guangqian G; Cao, Xin X

Publication Date: 2015-10-05

Variant appearance in text: WFS1: G831D; rs28937895

PubMed Link: 26435059

Variant Present in the following documents:

• Main text
• srep14731.pdf

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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: WFS1: G831D

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2

View BVdb publication page

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The genetic landscape of high-risk neuroblastoma.

Nature Genetics

Pugh, Trevor J TJ; Morozova, Olena O; Attiyeh, Edward F EF; Asgharzadeh, Shahab S; Wei, Jun S JS; Auclair, Daniel D; Carter, Scott L SL; Cibulskis, Kristian K; Hanna, Megan M; Kiezun, Adam A; Kim, Jaegil J; Lawrence, Michael S MS; Lichenstein, Lee L; McKenna, Aaron A; Pedamallu, Chandra Sekhar CS; Ramos, Alex H AH; Shefler, Erica E; Sivachenko, Andrey A; Sougnez, Carrie C; Stewart, Chip C; Ally, Adrian A; Birol, Inanc I; Chiu, Readman R; Corbett, Richard D RD; Hirst, Martin M; Jackman, Shaun D SD; Kamoh, Baljit B; Khodabakshi, Alireza Hadj AH; Krzywinski, Martin M; Lo, Allan A; Moore, Richard A RA; Mungall, Karen L KL; Qian, Jenny J; Tam, Angela A; Thiessen, Nina N; Zhao, Yongjun Y; Cole, Kristina A KA; Diamond, Maura M; Diskin, Sharon J SJ; Mosse, Yael P YP; Wood, Andrew C AC; Ji, Lingyun L; Sposto, Richard R; Badgett, Thomas T; London, Wendy B WB; Moyer, Yvonne Y; Gastier-Foster, Julie M JM; Smith, Malcolm A MA; Guidry Auvil, Jaime M JM; Gerhard, Daniela S DS; Hogarty, Michael D MD; Jones, Steven J M SJ; Lander, Eric S ES; Gabriel, Stacey B SB; Getz, Gad G; Seeger, Robert C RC; Khan, Javed J; Marra, Marco A MA; Meyerson, Matthew M; Maris, John M JM

Publication Date: 2013-03

Variant appearance in text: WFS1: 2492G>A; G831D; rs28937895

PubMed Link: 23334666

Variant Present in the following documents:

• NIHMS474900-supplement-8.xlsx, sheet 1

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Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss.

Human Molecular Genetics

Bespalova, I N IN; Van Camp, G G; Bom, S J SJ; Brown, D J DJ; Cryns, K K; DeWan, A T AT; Erson, A E AE; Flothmann, K K; Kunst, H P HP; Kurnool, P P; Sivakumaran, T A TA; Cremers, C W CW; Leal, S M SM; Burmeister, M M; Lesperance, M M MM

Publication Date: 2001-10-15

Variant appearance in text: DFNA6: G831D

PubMed Link: 11709537

Variant Present in the following documents:

• Main text

View BVdb publication page

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