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: 1511C>T; Pro504Leu

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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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: WFS1: 1511C>T; Pro504Leu

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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: P504L; rs28937892

PubMed Link: 36208030

Variant Present in the following documents:

• EDM2-5-e372-s001.xlsx, sheet 1

View BVdb publication page

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Genomic study of nonsyndromic hearing loss in unaffected individuals: Frequency of pathogenic and likely pathogenic variants in a Brazilian cohort of 2,097 genomes.

Frontiers In Genetics

Quaio, Caio Robledo D' Angioli Costa CRAC; Coelho, Antonio Victor Campos AVC; Moura, Livia Maria Silva LMS; Guedes, Rafael Lucas Muniz RLM; Chen, Kelin K; Ceroni, Jose Ricardo Magliocco JRM; Minillo, Renata Moldenhauer RM; Caraciolo, Marcel Pinheiro MP; Reis, Rodrigo de Souza RS; de Azevedo, Bruna Mascaro Cordeiro BMC; Nobrega, Maria Soares MS; Teixeira, Anne Caroline Barbosa ACB; Martinelli Lima, Matheus M; da Mota, Thamara Rayssa TR; da Matta, Marina Cadena MC; Colichio, Gabriela Borges Cherulli GBC; Roncalho, Aline Lulho AL; Ferreira, Ana Flavia Martinho AFM; Campilongo, Gabriela Pereira GP; Perrone, Eduardo E; Virmond, Luiza do Amaral LDA; Moreno, Carolina Araujo CA; Prota, Joana Rosa Marques JRM; de França, Marina M; Cervato, Murilo Castro MC; de Almeida, Tatiana Ferreira TF; de Oliveira Filho, Joao Bosco JB

Publication Date: 2022

Variant appearance in text: DFNA14: 1511C>T; rs28937892

PubMed Link: 36147510

Variant Present in the following documents:

• DataSheet1.xlsx, sheet 5

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: P504L

PubMed Link: 34746052

Variant Present in the following documents:

• Main text
• fped-09-718132.pdf

View BVdb publication page

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The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research

Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,

Publication Date: 2020-09

Variant appearance in text: WFS1: 1511C>T; Pro504Leu; rs28937892

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

View BVdb publication page

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Two Pathogenic Gene Mutations Identified Associating with Congenital Cataract and Iris Coloboma Respectively in a Chinese Family.

Journal Of Ophthalmology

Li, Bin B; Lu, Bin B; Guo, Xuewen X; Hu, Shenghui S; Zhao, Guihu G; Huang, Weihong W; Hu, Jianzhong J; Song, Kun K

Publication Date: 2020

Variant appearance in text: WFS1: P504L

PubMed Link: 32148946

Variant Present in the following documents:

• Main text
• JOPH2020-7054315.pdf

View BVdb publication page

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Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics

Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM

Publication Date: 2019-10

Variant appearance in text: WFS1: 1511C>T; Pro504Leu; rs28937892

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

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: P504L

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations.

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

Van Schil, Kristof K; Naessens, Sarah S; Van de Sompele, Stijn S; Carron, Marjolein M; Aslanidis, Alexander A; Van Cauwenbergh, Caroline C; Kathrin Mayer, Anja A; Van Heetvelde, Mattias M; Bauwens, Miriam M; Verdin, Hannah H; Coppieters, Frauke F; Greenberg, Michael E ME; Yang, Marty G MG; Karlstetter, Marcus M; Langmann, Thomas T; De Preter, Katleen K; Kohl, Susanne S; Cherry, Timothy J TJ; Leroy, Bart P BP; , ; De Baere, Elfride E

Publication Date: 2018-02

Variant appearance in text: WFS1: 1511C>T; Pro504Leu

PubMed Link: 28749477

Variant Present in the following documents:

• gim201797x2.xlsx, sheet 1

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: 1511C>T; Pro504Leu

PubMed Link: 28432734

Variant Present in the following documents:

• HUMU-38-764-s001.xlsx, 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: P504L; rs28937892

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: P504L; rs28937892

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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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: 1511C>T; P504L; rs28937892

PubMed Link: 23334666

Variant Present in the following documents:

• NIHMS474900-supplement-8.xlsx, sheet 1

View BVdb publication page

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The E3 ligase Smurf1 regulates Wolfram syndrome protein stability at the endoplasmic reticulum.

The Journal Of Biological Chemistry

Guo, Xing X; Shen, Shan S; Song, Shanshan S; He, Shan S; Cui, Yu Y; Xing, Guichun G; Wang, Jian J; Yin, Yuxin Y; Fan, Libin L; He, Fuchu F; Zhang, Lingqiang L

Publication Date: 2011-05-20

Variant appearance in text: WFS1: P504L

PubMed Link: 21454619

Variant Present in the following documents:

• Main text

View BVdb publication page

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