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: 2020G>C; Gly674Arg

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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Statistical evidence for high-penetrance MODY-causing genes in a large population-based cohort.

Endocrinology, Diabetes & Metabolism

Billings, Liana K LK; Shi, Zhuqing Z; Resurreccion, W Kyle WK; Wang, Chi-Hsiung CH; Wei, Jun J; Pollin, Toni I TI; Udler, Miriam S MS; Xu, Jianfeng J

Publication Date: 2022-11

Variant appearance in text: WFS1: G674R; rs200672755

PubMed Link: 36208030

Variant Present in the following documents:

• EDM2-5-e372-s001.xlsx, sheet 1

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: WFS1: G674R; rs200672755

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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Monogenic Causes in the Type 1 Diabetes Genetics Consortium Cohort: Low Genetic Risk for Autoimmunity in Case Selection.

The Journal Of Clinical Endocrinology And Metabolism

Marchand, Luc L; Li, Meihang M; Leblicq, Coralie C; Rafique, Ibrar I; Alarcon-Martinez, Tugba T; Lange, Claire C; Rendon, Laura L; Tam, Emily E; Courville-Le Bouyonnec, Ariane A; Polychronakos, Constantin C

Publication Date: 2021-05-13

Variant appearance in text: WFS1: G674R

PubMed Link: 33538814

Variant Present in the following documents:

• Main text

View BVdb publication page

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iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports

Wang, Meng M; Wei, Liping L

Publication Date: 2016-08-16

Variant appearance in text: WFS1: G674R

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s4.xls, 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: WFS1: G674R

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: G674R; rs200672755

PubMed Link: 26435059

Variant Present in the following documents:

• Main text
• srep14731.pdf

View BVdb publication page

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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: G674R

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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Wolfram syndrome in the Japanese population; molecular analysis of WFS1 gene and characterization of clinical features.

Plos One

Matsunaga, Kimie K; Tanabe, Katsuya K; Inoue, Hiroshi H; Okuya, Shigeru S; Ohta, Yasuharu Y; Akiyama, Masaru M; Taguchi, Akihiko A; Kora, Yukari Y; Okayama, Naoko N; Yamada, Yuichiro Y; Wada, Yasuhiko Y; Amemiya, Shin S; Sugihara, Shigetaka S; Nakao, Yuzo Y; Oka, Yoshitomo Y; Tanizawa, Yukio Y

Publication Date: 2014

Variant appearance in text: WFS1: G674R

PubMed Link: 25211237

Variant Present in the following documents:

• Main text
• pone.0106906.s001.pdf

View BVdb publication page

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Detailed investigation of the role of common and low-frequency WFS1 variants in type 2 diabetes risk.

Diabetes

Fawcett, Katherine A KA; Wheeler, Eleanor E; Morris, Andrew P AP; Ricketts, Sally L SL; Hallmans, Göran G; Rolandsson, Olov O; Daly, Allan A; Wasson, Jon J; Permutt, Alan A; Hattersley, Andrew T AT; Glaser, Benjamin B; Franks, Paul W PW; McCarthy, Mark I MI; Wareham, Nicholas J NJ; Sandhu, Manjinder S MS; Barroso, Inês I

Publication Date: 2010-03

Variant appearance in text: WFS1: G674R

PubMed Link: 20028947

Variant Present in the following documents:

• supp_db09-0920_db09-0920online_appendix.pdf

View BVdb publication page

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