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: 1672C>T; Arg558Cys

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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Community data-driven approach to identify pathogenic founder variants for pan-ethnic carrier screening panels.

Human Genomics

Einhorn, Yaron Y; Einhorn, Moshe M; Kurolap, Alina A; Steinberg, Dror D; Mory, Adi A; Bazak, Lily L; Paperna, Tamar T; Grinshpun-Cohen, Julia J; Basel-Salmon, Lina L; Weiss, Karin K; Singer, Amihood A; Yaron, Yuval Y; Baris Feldman, Hagit H

Publication Date: 2023-03-28

Variant appearance in text: WFS1: 1672C>T; Arg558Cys

PubMed Link: 36978159

Variant Present in the following documents:

• Main text
• 40246_2023_Article_472.pdf

View BVdb publication page

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Genotype and Clinical Characteristics of Patients with Wolfram Syndrome and WFS1-related Disorders.

Medrxiv : The Preprint Server For Health Sciences

Lee, Evan M EM; Verma, Megha M; Palaniappan, Nila N; Pope, Emiko M EM; Lee, Sammie S; Blacher, Lindsey L; Neerumalla, Pooja P; An, William W; Campbell, Toko T; Brown, Cris C; Hurst, Stacy S; Marshall, Bess B; Hershey, Tamara T; Nunes, Virginia V; de Heredia, Miguel López ML; Urano, Fumihiko F

Publication Date: 2023-02-16

Variant appearance in text: WFS1: Arg558Cys

PubMed Link: 36824811

Variant Present in the following documents:

• nihpp-2023.02.15.23284904v1.pdf

View BVdb publication page

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The Role of ER Stress in Diabetes: Exploring Pathological Mechanisms Using Wolfram Syndrome.

International Journal Of Molecular Sciences

Morikawa, Shuntaro S; Urano, Fumihiko F

Publication Date: 2022-12-23

Variant appearance in text: WFS1: 1672C>T

PubMed Link: 36613674

Variant Present in the following documents:

• Main text
• ijms-24-00230.pdf

View BVdb publication page

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Analysis of matched primary and recurrent BRCA1/2 mutation-associated tumors identifies recurrence-specific drivers.

Nature Communications

Shah, Jennifer B JB; Pueschl, Dana D; Wubbenhorst, Bradley B; Fan, Mengyao M; Pluta, John J; D'Andrea, Kurt K; Hubert, Anna P AP; Shilan, Jake S JS; Zhou, Wenting W; Kraya, Adam A AA; Llop Guevara, Alba A; Ruan, Catherine C; Serra, Violeta V; Balmaña, Judith J; Feldman, Michael M; Morin, Pat J PJ; Nayak, Anupma A; Maxwell, Kara N KN; Domchek, Susan M SM; Nathanson, Katherine L KL

Publication Date: 2022-11-07

Variant appearance in text: WFS1: R558C

PubMed Link: 36344544

Variant Present in the following documents:

• 41467_2022_34523_MOESM4_ESM.xlsx, sheet 1
• 41467_2022_34523_MOESM4_ESM.xlsx, sheet 3

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: R558C; rs199946797

PubMed Link: 36208030

Variant Present in the following documents:

• EDM2-5-e372-s001.xlsx, sheet 1

View BVdb publication page

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Multidimensional analysis and therapeutic development using patient iPSC-derived disease models of Wolfram syndrome.

Jci Insight

Kitamura, Rie Asada RA; Maxwell, Kristina G KG; Ye, Wenjuan W; Kries, Kelly K; Brown, Cris M CM; Augsornworawat, Punn P; Hirsch, Yoel Y; Johansson, Martin M MM; Weiden, Tzvi T; Ekstein, Joseph J; Cohen, Joshua J; Klee, Justin J; Leslie, Kent K; Simeonov, Anton A; Henderson, Mark J MJ; Millman, Jeffrey R JR; Urano, Fumihiko F

Publication Date: 2022-09-22

Variant appearance in text: WFS1: 1672C>T; R558C

PubMed Link: 36134655

Variant Present in the following documents:

• jciinsight-7-156549.pdf
• jciinsight-7-156549-s011.pdf

View BVdb publication page

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Comprehensive Genetic Analysis Unraveled the Missing Heritability in a Chinese Cohort With Wolfram Syndrome 1: Clinical and Genetic Findings.

Investigative Ophthalmology & Visual Science

Zhang, Xin X; Xie, Yue Y; Xu, Ke K; Chang, Haoyu H; Zhang, Xiaohui X; Li, Yang Y

Publication Date: 2022-09-01

Variant appearance in text: WFS1: Arg558Cys

PubMed Link: 36098976

Variant Present in the following documents:

• Main text
• iovs-63-10-9.pdf

View BVdb publication page

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An Atypical Case of Late-Onset Wolfram Syndrome 1 without Diabetes Insipidus.

International Journal Of Environmental Research And Public Health

Rigoli, Luciana L; Caruso, Valerio V; Aloi, Concetta C; Salina, Alessandro A; Maghnie, Mohamad M; d'Annunzio, Giuseppe G; Lamacchia, Olga O; Salzano, Giuseppina G; Lombardo, Fortunato F; Picca, Giuseppe G

Publication Date: 2022-02-21

Variant appearance in text: WFS1: Arg558Cys

PubMed Link: 35206658

Variant Present in the following documents:

• Main text
• ijerph-19-02473.pdf

View BVdb publication page

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Whole-genome analysis of human embryonic stem cells enables rational line selection based on genetic variation.

Cell Stem Cell

Merkle, Florian T FT; Ghosh, Sulagna S; Genovese, Giulio G; Handsaker, Robert E RE; Kashin, Seva S; Meyer, Daniel D; Karczewski, Konrad J KJ; O'Dushlaine, Colm C; Pato, Carlos C; Pato, Michele M; MacArthur, Daniel G DG; McCarroll, Steven A SA; Eggan, Kevin K

Publication Date: 2022-03-03

Variant appearance in text: WFS1: 1672C>T; Arg558Cys; rs199946797

PubMed Link: 35176222

Variant Present in the following documents:

• mmc5.xlsx, sheet 1
• mmc5.xlsx, sheet 3

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: R558C; rs199946797

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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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: R558C

PubMed Link: 34746052

Variant Present in the following documents:

• Main text
• fped-09-718132.pdf

View BVdb publication page

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Unique three-site compound heterozygous mutation in the WFS1 gene in Wolfram syndrome.

Bmc Endocrine Disorders

Ren, Ziyu Z; Yi, Jixiu J; Zhong, Min M; Wang, Yunting Y; Liu, Qicong Q; Wang, Xuan X; Liu, Dongfang D; Ren, Wei W

Publication Date: 2021-08-17

Variant appearance in text: WFS1: 1672C>T

PubMed Link: 34404380

Variant Present in the following documents:

• 12902_2021_Article_823.pdf

View BVdb publication page

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Mild Phenotype of Wolfram Syndrome Associated With a Common Pathogenic Variant Is Predicted by a Structural Model of Wolframin.

Neurology. Genetics

Wilf-Yarkoni, Adi A; Shor, Oded O; Fellner, Avi A; Hellmann, Mark Andrew MA; Pras, Elon E; Yonath, Hagit H; Shkedi-Rafid, Shiri S; Basel-Salmon, Lina L; Bazak, Lili L; Eliahou, Ruth R; Greenbaum, Lior L; Stiebel-Kalish, Hadas H; Benninger, Felix F; Goldberg, Yael Y

Publication Date: 2021-04

Variant appearance in text: WFS1: 1672C>T; Arg558Cys

PubMed Link: 33763535

Variant Present in the following documents:

• Main text
• NG2020016915.pdf

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: R558C

PubMed Link: 33538814

Variant Present in the following documents:

• Main text

View BVdb publication page

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Monogenic and syndromic diabetes due to endoplasmic reticulum stress.

Journal Of Diabetes And Its Complications

Stone, Stephen I SI; Abreu, Damien D; McGill, Janet B JB; Urano, Fumihiko F

Publication Date: 2021-01

Variant appearance in text: WFS1: R558C

PubMed Link: 32518033

Variant Present in the following documents:

• Main text

View BVdb publication page

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An evaluation of genetic causes and environmental risks for bilateral optic atrophy.

Plos One

Chen, Andrew T AT; Brady, Lauren L; Bulman, Dennis E DE; Sundaram, Arun N E ANE; Rodriguez, Amadeo R AR; Margolin, Edward E; Waye, John S JS; Tarnopolsky, Mark A MA

Publication Date: 2019

Variant appearance in text: WFS1: 1672C>T

PubMed Link: 31765440

Variant Present in the following documents:

• Main text
• pone.0225656.pdf

View BVdb publication page

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Compound heterozygous mutations in WFS1 cause atypical Wolfram syndrome.

Chinese Medical Journal

Pan, Yun-Di YD; Fu, Jun-Ling JL; Xiao, Xin-Hua XH

Publication Date: 2019-10-20

Variant appearance in text: WFS1: R558C

PubMed Link: 31567480

Variant Present in the following documents:

• Main text
• cm9-132-2508.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: 1672C>T; Arg558Cys

PubMed Link: 30245029

Variant Present in the following documents:

• mmc2.xlsx, sheet 4

View BVdb publication page

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Spectrum of mutations in monogenic diabetes genes identified from high-throughput DNA sequencing of 6888 individuals.

Bmc Medicine

Bansal, Vikas V; Gassenhuber, Johann J; Phillips, Tierney T; Oliveira, Glenn G; Harbaugh, Rebecca R; Villarasa, Nikki N; Topol, Eric J EJ; Seufferlein, Thomas T; Boehm, Bernhard O BO

Publication Date: 2017-12-06

Variant appearance in text: WFS1: 1672C>T; R558C

PubMed Link: 29207974

Variant Present in the following documents:

• Main text
• 12916_2017_Article_977.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: 1672C>T; Arg558Cys

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: 1672C>T

PubMed Link: 28432734

Variant Present in the following documents:

• Main text
• HUMU-38-764.pdf
• 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: R558C

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s4.xls, sheet 1

View BVdb publication page

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Exome Sequencing and Gene Prioritization Correct Misdiagnosis in a Chinese Kindred with Familial Amyloid Polyneuropathy.

Scientific Reports

Chen, Hui H; Zhou, Xueya X; Wang, Jing J; Wang, Xi X; Liu, Liyang L; Wu, Shinan S; Li, Tengyan T; Chen, Si S; Yang, Jingwen J; Sham, Pak Chung PC; Zhu, Guangming G; Zhang, Xuegong X; Wang, Binbin B

Publication Date: 2016-05-23

Variant appearance in text: WFS1: R558C

PubMed Link: 27212199

Variant Present in the following documents:

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: R558C

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: R558C; rs199946797

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: R558C

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM2_ESM.xls, sheet 1
• 12859_2015_673_MOESM1_ESM.xls, sheet 2

View BVdb publication page

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Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia.

Jama Neurology

Fogel, Brent L BL; Lee, Hane H; Deignan, Joshua L JL; Strom, Samuel P SP; Kantarci, Sibel S; Wang, Xizhe X; Quintero-Rivera, Fabiola F; Vilain, Eric E; Grody, Wayne W WW; Perlman, Susan S; Geschwind, Daniel H DH; Nelson, Stanley F SF

Publication Date: 2014-10

Variant appearance in text: WFS1: 1672C>T; Arg558Cys

PubMed Link: 25133958

Variant Present in the following documents:

• Main text

View BVdb publication page

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Integrated analysis of germline and somatic variants in ovarian cancer.

Nature Communications

Kanchi, Krishna L KL; Johnson, Kimberly J KJ; Lu, Charles C; McLellan, Michael D MD; Leiserson, Mark D M MD; Wendl, Michael C MC; Zhang, Qunyuan Q; Koboldt, Daniel C DC; Xie, Mingchao M; Kandoth, Cyriac C; McMichael, Joshua F JF; Wyczalkowski, Matthew A MA; Larson, David E DE; Schmidt, Heather K HK; Miller, Christopher A CA; Fulton, Robert S RS; Spellman, Paul T PT; Mardis, Elaine R ER; Druley, Todd E TE; Graubert, Timothy A TA; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Wilson, Richard K RK; Ding, Li L

Publication Date: 2014

Variant appearance in text: WFS1: R558C

PubMed Link: 24448499

Variant Present in the following documents:

• NIHMS551112-supplement-9.xlsx, sheet 1

View BVdb publication page

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Atypical case of Wolfram syndrome revealed through targeted exome sequencing in a patient with suspected mitochondrial disease.

Bmc Medical Genetics

Lieber, Daniel S DS; Vafai, Scott B SB; Horton, Laura C LC; Slate, Nancy G NG; Liu, Shangtao S; Borowsky, Mark L ML; Calvo, Sarah E SE; Schmahmann, Jeremy D JD; Mootha, Vamsi K VK

Publication Date: 2012-01-06

Variant appearance in text: WFS1: 1672C>T

PubMed Link: 22226368

Variant Present in the following documents:

• Main text
• 1471-2350-13-3.pdf

View BVdb publication page

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