Publications:

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Negative Molecular Diagnostics in Non-Syndromic Hearing Loss: What Next?

Genes

Clabout, Thomas T; Maes, Laurence L; Acke, Frederic F; Wuyts, Wim W; Van Schil, Kristof K; Coucke, Paul P; Janssens, Sandra S; De Leenheer, Els E

Publication Date: 2022-12-29

Variant appearance in text: MYO1A: 277C>T; Arg93Ter

PubMed Link: 36672845

Variant Present in the following documents:

• genes-14-00105.pdf

View BVdb publication page

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Exome sequencing of familial high-grade serous ovarian carcinoma reveals heterogeneity for rare candidate susceptibility genes.

Nature Communications

Subramanian, Deepak N DN; Zethoven, Magnus M; McInerny, Simone S; Morgan, James A JA; Rowley, Simone M SM; Lee, Jue Er Amanda JEA; Li, Na N; Gorringe, Kylie L KL; James, Paul A PA; Campbell, Ian G IG

Publication Date: 2020-04-02

Variant appearance in text: MYO1A: 277C>T; Arg93Ter

PubMed Link: 32242007

Variant Present in the following documents:

• 41467_2020_15461_MOESM4_ESM.xlsx, sheet 2

View BVdb publication page

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A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.

Molecular Genetics & Genomic Medicine

Zheng, Jianchao J; Zhang, Hongyun H; Banerjee, Santasree S; Li, Yun Y; Zhou, Junyu J; Yang, Qian Q; Tan, Xuemei X; Han, Peng P; Fu, Qinmei Q; Cui, Xiaoli X; Yuan, Yuying Y; Zhang, Meiyan M; Shen, Ruiqin R; Song, Haifeng H; Zhang, Xiuqing X; Zhao, Lijian L; Peng, Zhiyu Z; Wang, Wei W; Yin, Ye Y

Publication Date: 2019-07

Variant appearance in text: MYO1A: 277C>T; Arg93Ter

PubMed Link: 31165590

Variant Present in the following documents:

• MGG3-7-e00748-s004.xlsx, sheet 1

View BVdb publication page

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Genomic and Transcriptomic Characterization Links Cell Lines with Aggressive Head and Neck Cancers.

Cell Reports

Cheng, Hui H; Yang, Xinping X; Si, Han H; Saleh, Anthony D AD; Xiao, Wenming W; Coupar, Jamie J; Gollin, Susanne M SM; Ferris, Robert L RL; Issaeva, Natalia N; Yarbrough, Wendell G WG; Prince, Mark E ME; Carey, Thomas E TE; Van Waes, Carter C; Chen, Zhong Z

Publication Date: 2018-10-30

Variant appearance in text: MYO1A: R93X; rs121909305

PubMed Link: 30380422

Variant Present in the following documents:

• NIHMS1511993-supplement-6.xlsx, sheet 1

View BVdb publication page

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Identification of Novel PTPRQ and MYO1A Mutations in An Iranian Pedigree with Autosomal Recessive Hearing Loss.

Cell Journal

Talebi, Farah F; Ghanbari Mardasi, Farideh F; Mohammadi Asl, Javad J; Tizno, Saeed S; Najafvand Zadeh, Marziye M

Publication Date: 2018-04

Variant appearance in text: MYO1A: R93X

PubMed Link: 29308629

Variant Present in the following documents:

• Main text
• Cell-J-20-127.pdf

View BVdb publication page

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Atypical autism in a boy with double duplication of 22q11.2: implications of increasing dosage.

Npj Genomic Medicine

Dale, Breanne B; Modi, Bonnie MacKinnon BM; Jilderda, Sanne S; McConnell, Beth B; Hoang, Ny N; Swaroop, Pooja P; Falcon, Jhoan J; Thiruvahindrapuram, Bhooma B; Walker, Susan S; Scherer, Stephen W SW; Stavropoulos, D James DJ; Drmic, Irene E IE; Carter, Melissa T MT

Publication Date: 2017

Variant appearance in text: MYO1A: R93X

PubMed Link: 29263838

Variant Present in the following documents:

• 41525_2017_31_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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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: MYO1A: 277C>T; R93*; rs121909305

PubMed Link: 29245897

Variant Present in the following documents:

• oncotarget-08-99237-s003.xlsx, sheet 1

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: MYO1A: 277C>T; Arg93Ter

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results.

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

Baldridge, Dustin D; Heeley, Jennifer J; Vineyard, Marisa M; Manwaring, Linda L; Toler, Tomi L TL; Fassi, Emily E; Fiala, Elise E; Brown, Sarah S; Goss, Charles W CW; Willing, Marcia M; Grange, Dorothy K DK; Kozel, Beth A BA; Shinawi, Marwan M

Publication Date: 2017-09

Variant appearance in text: MYO1A: 277C>T; R93X

PubMed Link: 28252636

Variant Present in the following documents:

• NIHMS853380-supplement-supp_table1.xlsx, sheet 1

View BVdb publication page

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A genotypic ascertainment approach to refute the association of MYO1A variants with non-syndromic deafness.

European Journal Of Human Genetics : Ejhg

Patton, John J; Brewer, Carmen C; Chien, Wade W; Johnston, Jennifer J JJ; Griffith, Andrew J AJ; Biesecker, Leslie G LG

Publication Date: 2016-01

Variant appearance in text: MYO1A: 277C>T; Arg93*

PubMed Link: 27759032

Variant Present in the following documents:

• Main text

View BVdb publication page

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Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.

Nature Communications

Cereda, Matteo M; Gambardella, Gennaro G; Benedetti, Lorena L; Iannelli, Fabio F; Patel, Dominic D; Basso, Gianluca G; Guerra, Rosalinda F RF; Mourikis, Thanos P TP; Puccio, Ignazio I; Sinha, Shruti S; Laghi, Luigi L; Spencer, Jo J; Rodriguez-Justo, Manuel M; Ciccarelli, Francesca D FD

Publication Date: 2016-07-05

Variant appearance in text: MYO1A: R93X

PubMed Link: 27377421

Variant Present in the following documents:

• ncomms12072-s6.xlsx, sheet 1

View BVdb publication page

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Genomic Correlates of Immune-Cell Infiltrates in Colorectal Carcinoma.

Cell Reports

Giannakis, Marios M; Mu, Xinmeng Jasmine XJ; Shukla, Sachet A SA; Qian, Zhi Rong ZR; Cohen, Ofir O; Nishihara, Reiko R; Bahl, Samira S; Cao, Yin Y; Amin-Mansour, Ali A; Yamauchi, Mai M; Sukawa, Yasutaka Y; Stewart, Chip C; Rosenberg, Mara M; Mima, Kosuke K; Inamura, Kentaro K; Nosho, Katsuhiko K; Nowak, Jonathan A JA; Lawrence, Michael S MS; Giovannucci, Edward L EL; Chan, Andrew T AT; Ng, Kimmie K; Meyerhardt, Jeffrey A JA; Van Allen, Eliezer M EM; Getz, Gad G; Gabriel, Stacey B SB; Lander, Eric S ES; Wu, Catherine J CJ; Fuchs, Charles S CS; Ogino, Shuji S; Garraway, Levi A LA

Publication Date: 2016-04-26

Variant appearance in text: MYO1A: R93*

PubMed Link: 27149842

Variant Present in the following documents:

• mmc2.xlsx, sheet 4

View BVdb publication page

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Application of a New Genetic Deafness Microarray for Detecting Mutations in the Deaf in China.

Plos One

Wu, Hong H; Feng, Yong Y; Jiang, Lu L; Pan, Qian Q; Liu, Yalan Y; Liu, Chang C; He, Chufeng C; Chen, Hongsheng H; Liu, Xueming X; Hu, Chang C; Hu, Yiqiao Y; Mei, Lingyun L

Publication Date: 2016

Variant appearance in text: MYO1A: 277C>T; Arg93Ter

PubMed Link: 27018795

Variant Present in the following documents:

• Main text

View BVdb publication page

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Analysis of Low Frequency Protein Truncating Stop-Codon Variants and Fasting Concentration of Growth Hormone.

Plos One

Hallengren, Erik E; Almgren, Peter P; Engström, Gunnar G; Persson, Margaretha M; Melander, Olle O

Publication Date: 2015

Variant appearance in text: MYO1A: R93*; rs121909305

PubMed Link: 26086970

Variant Present in the following documents:

• Main text
• pone.0128348.s002.xlsx, sheet 1
• pone.0128348.pdf

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: rs121909305

PubMed Link: 25807536

Variant Present in the following documents:

• pone.0121644.s002.xls, sheet 1

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: MYO1A: 277C>T; R93*; rs121909305

PubMed Link: 23334666

Variant Present in the following documents:

• NIHMS474900-supplement-8.xlsx, sheet 1
• NIHMS474900-supplement-8.xlsx, sheet 2

View BVdb publication page

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Multiple mutations of MYO1A, a cochlear-expressed gene, in sensorineural hearing loss.

American Journal Of Human Genetics

Donaudy, Francesca F; Ferrara, Antonella A; Esposito, Laura L; Hertzano, Ronna R; Ben-David, Orit O; Bell, Rachel E RE; Melchionda, Salvatore S; Zelante, Leopoldo L; Avraham, Karen B KB; Gasparini, Paolo P

Publication Date: 2003-06

Variant appearance in text: MYO1A: R93X

PubMed Link: 12736868

Variant Present in the following documents:

• Main text

View BVdb publication page

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