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: 2611G>A; Val871Met

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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Beneficial effects of mifepristone treatment in breast cancer patients selected by the progesterone receptor isoform ratio: Results from the MIPRA trial.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Elía, Andrés A; Saldain, Leo L; Vanzulli, Silvia I SI; Helguero, Luisa A LA; Lamb, Caroline A CA; Fabris, Victoria V; Pataccini, Gabriela G; Martínez-Vazquez, Paula P; Burruchaga, Javier J; Caillet-Bois, Ines I; Spengler, Eunice E; Acosta Haab, Gabriela G; Liguori, Marcos M; Castets, Alejandra A; Lovisi, Silvia S; Abascal, María F MF; Novaro, Virginia V; Sánchez, Jana J; Muñoz, Javier J; Belizán, Jose M JM; Abba, Martín C MC; Gass, Hugo H; Rojas, Paola P; Lanari, Claudia C

Publication Date: 2022-10-21

Variant appearance in text: WFS1: 2611G>A; Val871Met; rs71532874

PubMed Link: 36269797

Variant Present in the following documents:

• ccr-22-2060_supplementary_table_s5_suppts5.xlsx, sheet 1

View BVdb publication page

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Presentation and diagnosis of childhood-onset combined pituitary hormone deficiency: A single center experience from over 30 years.

Eclinicalmedicine

Hietamäki, Johanna J; Kärkinen, Juho J; Iivonen, Anna-Pauliina AP; Vaaralahti, Kirsi K; Tarkkanen, Annika A; Almusa, Henrikki H; Huopio, Hanna H; Hero, Matti M; Miettinen, Päivi J PJ; Raivio, Taneli T

Publication Date: 2022-09

Variant appearance in text: rs71532874

PubMed Link: 35875813

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Integrated DNA and RNA Sequencing Reveals Drivers of Endocrine Resistance in Estrogen Receptor-Positive Breast Cancer.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Xia, Youli Y; He, Xiaping X; Renshaw, Lorna L; Martinez-Perez, Carlos C; Kay, Charlene C; Gray, Mark M; Meehan, James J; Parker, Joel S JS; Perou, Charles M CM; Carey, Lisa A LA; Dixon, J Michael JM; Turnbull, Arran A

Publication Date: 2022-08-15

Variant appearance in text: WFS1: V871M; rs71532874

PubMed Link: 35653148

Variant Present in the following documents:

• ccr-21-3189_supplementary_tables_ts1-9_suppts1-9.xlsx, sheet 5

View BVdb publication page

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SMAP is a pipeline for sample matching in proteogenomics.

Nature Communications

Li, Ling L; Niu, Mingming M; Erickson, Alyssa A; Luo, Jie J; Rowbotham, Kincaid K; Guo, Kai K; Huang, He H; Li, Yuxin Y; Jiang, Yi Y; Hur, Junguk J; Liu, Chunyu C; Peng, Junmin J; Wang, Xusheng X

Publication Date: 2022-02-08

Variant appearance in text: WFS1: V871M

PubMed Link: 35136070

Variant Present in the following documents:

• 41467_2022_28411_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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The Impact of Mutations in Wolframin on Psychiatric Disorders.

Frontiers In Pediatrics

Munshani, Saira S; Ibrahim, Eiman Y EY; Domenicano, Ilaria I; Ehrlich, Barbara E BE

Publication Date: 2021

Variant appearance in text: WFS1: V871M

PubMed Link: 34746052

Variant Present in the following documents:

• Main text
• fped-09-718132.pdf

View BVdb publication page

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Evolving neoantigen profiles in colorectal cancers with DNA repair defects.

Genome Medicine

Rospo, Giuseppe G; Lorenzato, Annalisa A; Amirouchene-Angelozzi, Nabil N; Magrì, Alessandro A; Cancelliere, Carlotta C; Corti, Giorgio G; Negrino, Carola C; Amodio, Vito V; Montone, Monica M; Bartolini, Alice A; Barault, Ludovic L; Novara, Luca L; Isella, Claudio C; Medico, Enzo E; Bertotti, Andrea A; Trusolino, Livio L; Germano, Giovanni G; Di Nicolantonio, Federica F; Bardelli, Alberto A

Publication Date: 2019-06-28

Variant appearance in text: WFS1: V871M

PubMed Link: 31253177

Variant Present in the following documents:

• 13073_2019_654_MOESM2_ESM.xlsx, sheet 19
• 13073_2019_654_MOESM2_ESM.xlsx, sheet 25

View BVdb publication page

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An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation

Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,

Publication Date: 2019-01-01

Variant appearance in text: WFS1: 2611G>A; Val871Met

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

View BVdb publication page

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Systematic evaluation of gene variants linked to hearing loss based on allele frequency threshold and filtering allele frequency.

Scientific Reports

Rim, John Hoon JH; Lee, Joon Suk JS; Jung, Jinsei J; Lee, Ji Hyun JH; Lee, Seung-Tae ST; Choi, Jong Rak JR; Choi, Jae Young JY; Lee, Min Goo MG; Gee, Heon Yung HY

Publication Date: 2019-03-14

Variant appearance in text: WFS1: 2611G>A; Val871Met; rs71532874

PubMed Link: 30872718

Variant Present in the following documents:

• 41598_2019_41068_MOESM1_ESM.pdf

View BVdb publication page

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Genomic Landscape and Mutational Signatures of Deafness-Associated Genes.

American Journal Of Human Genetics

Azaiez, Hela H; Booth, Kevin T KT; Ephraim, Sean S SS; Crone, Bradley B; Black-Ziegelbein, Elizabeth A EA; Marini, Robert J RJ; Shearer, A Eliot AE; Sloan-Heggen, Christina M CM; Kolbe, Diana D; Casavant, Thomas T; Schnieders, Michael J MJ; Nishimura, Carla C; Braun, Terry T; Smith, Richard J H RJH

Publication Date: 2018-10-04

Variant appearance in text: WFS1: 2611G>A; Val871Met

PubMed Link: 30245029

Variant Present in the following documents:

• mmc2.xlsx, sheet 4

View BVdb publication page

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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: 2611G>A

PubMed Link: 29529044

Variant Present in the following documents:

• Main text
• pone.0193359.pdf

View BVdb publication page

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Sources of discordance among germ-line variant classifications in ClinVar.

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

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: WFS1: 2611G>A; Val871Met

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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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: 2611G>A; Val871Met

PubMed Link: 28432734

Variant Present in the following documents:

• HUMU-38-764-s001.xlsx, sheet 1

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: V871M

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s4.xls, sheet 1

View BVdb publication page

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Molecular analysis of urothelial cancer cell lines for modeling tumor biology and drug response.

Oncogene

Nickerson, M L ML; Witte, N N; Im, K M KM; Turan, S S; Owens, C C; Misner, K K; Tsang, S X SX; Cai, Z Z; Wu, S S; Dean, M M; Costello, J C JC; Theodorescu, D D

Publication Date: 2017-01-05

Variant appearance in text: WFS1: V871M; rs71532874

PubMed Link: 27270441

Variant Present in the following documents:

• onc2016172x3.xls, sheet 3

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: V871M; rs71532874

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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: V871M

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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Population genomic analysis of 962 whole genome sequences of humans reveals natural selection in non-coding regions.

Plos One

Yu, Fuli F; Lu, Jian J; Liu, Xiaoming X; Gazave, Elodie E; Chang, Diana D; Raj, Srilakshmi S; Hunter-Zinck, Haley H; Blekhman, Ran R; Arbiza, Leonardo L; Van Hout, Cris C; Morrison, Alanna A; Johnson, Andrew D AD; Bis, Joshua J; Cupples, L Adrienne LA; Psaty, Bruce M BM; Muzny, Donna D; Yu, Jin J; Gibbs, Richard A RA; Keinan, Alon A; Clark, Andrew G AG; Boerwinkle, Eric E

Publication Date: 2015

Variant appearance in text: rs71532874

PubMed Link: 25807536

Variant Present in the following documents:

• pone.0121644.s002.xls, sheet 1

View BVdb publication page

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Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: WFS1: V871M; rs71532874

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

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: V871M

PubMed Link: 20028947

Variant Present in the following documents:

• Main text
• zdb741.pdf

View BVdb publication page

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Autoimmune disease in a DFNA6/14/38 family carrying a novel missense mutation in WFS1.

American Journal Of Medical Genetics. Part A

Hildebrand, Michael S MS; Sorensen, Jessica L JL; Jensen, Maren M; Kimberling, William J WJ; Smith, Richard J H RJ

Publication Date: 2008-09-01

Variant appearance in text: WFS1: V871M

PubMed Link: 18688868

Variant Present in the following documents:

• Main text

View BVdb publication page

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