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: TMPRSS3: 325C>T

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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Improving genetic diagnosis by disease-specific, ACMG/AMP variant interpretation guidelines for hearing loss.

Scientific Reports

Kim, So Young SY; Kim, Bong Jik BJ; Oh, Doo Yi DY; Han, Jin Hee JH; Yi, Nayoung N; Kim, Namju Justin NJ; Park, Moo Kyun MK; Keum, Changwon C; Seo, Go Hun GH; Choi, Byung Yoon BY

Publication Date: 2022-07-21

Variant appearance in text: TMPRSS3: 325C>T; Arg109Trp

PubMed Link: 35864128

Variant Present in the following documents:

• 41598_2022_16661_MOESM1_ESM.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: TMPRSS3: R109W; rs201632198

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7
• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9

View BVdb publication page

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TMPRSS3 Gene Variants With Implications for Auditory Treatment and Counseling.

Frontiers In Genetics

Moon, In Seok IS; Grant, Andrew R AR; Sagi, Varun V; Rehm, Heidi L HL; Stankovic, Konstantina M KM

Publication Date: 2021

Variant appearance in text: TMPRSS3: 325C>T; Arg109Trp

PubMed Link: 34868270

Variant Present in the following documents:

• Main text
• fgene-12-780874.pdf

View BVdb publication page

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Crystal structure of inhibitor-bound human MSPL that can activate high pathogenic avian influenza.

Life Science Alliance

Ohno, Ayako A; Maita, Nobuo N; Tabata, Takanori T; Nagano, Hikaru H; Arita, Kyohei K; Ariyoshi, Mariko M; Uchida, Takayuki T; Nakao, Reiko R; Ulla, Anayt A; Sugiura, Kosuke K; Kishimoto, Koji K; Teshima-Kondo, Shigetada S; Okumura, Yuushi Y; Nikawa, Takeshi T

Publication Date: 2021-06

Variant appearance in text: TMPRSS3: R109W

PubMed Link: 33820827

Variant Present in the following documents:

• Main text
• LSA-2020-00849.pdf

View BVdb publication page

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Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.

Nature Communications

Akhavanfard, Sara S; Padmanabhan, Roshan R; Yehia, Lamis L; Cheng, Feixiong F; Eng, Charis C

Publication Date: 2020-05-05

Variant appearance in text: TMPRSS3: 325C>T; R109W

PubMed Link: 32371905

Variant Present in the following documents:

• 41467_2020_16067_MOESM12_ESM.xlsx, sheet 9

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: TMPRSS3: 325C>T; Arg109Trp; rs201632198

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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The molecular etiology of deafness and auditory performance in the postlingually deafened cochlear implantees.

Scientific Reports

Lee, Sang-Yeon SY; Shim, Ye Ji YJ; Han, Jin-Hee JH; Song, Jae-Jin JJ; Koo, Ja-Won JW; Oh, Seung Ha SH; Lee, Seungmin S; Oh, Doo-Yi DY; Choi, Byung Yoon BY

Publication Date: 2020-04-01

Variant appearance in text: TMPRSS3: 325C>T; Arg109Trp

PubMed Link: 32238869

Variant Present in the following documents:

• 41598_2020_Article_62647.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: TMPRSS3: 325C>T; Arg109Trp; rs201632198

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

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: TMPRSS3: 325C>T; Arg109Trp

PubMed Link: 31165590

Variant Present in the following documents:

• MGG3-7-e00748-s004.xlsx, sheet 1

View BVdb publication page

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Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel.

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

Shen, Jun J; Oza, Andrea M AM; Del Castillo, Ignacio I; Duzkale, Hatice H; Matsunaga, Tatsuo T; Pandya, Arti A; Kang, Hyunseok P HP; Mar-Heyming, Rebecca R; Guha, Saurav S; Moyer, Krista K; Lo, Christine C; Kenna, Margaret M; Alexander, John J JJ; Zhang, Yan Y; Hirsch, Yoel Y; Luo, Minjie M; Cao, Ye Y; Wai Choy, Kwong K; Cheng, Yen-Fu YF; Avraham, Karen B KB; Hu, Xinhua X; Garrido, Gema G; Moreno-Pelayo, Miguel A MA; Greinwald, John J; Zhang, Kejian K; Zeng, Yukun Y; Brownstein, Zippora Z; Basel-Salmon, Lina L; Davidov, Bella B; Frydman, Moshe M; Weiden, Tzvi T; Nagan, Narasimhan N; Willis, Alecia A; Hemphill, Sarah E SE; Grant, Andrew R AR; Siegert, Rebecca K RK; DiStefano, Marina T MT; Amr, Sami S SS; Rehm, Heidi L HL; Abou Tayoun, Ahmad N AN; ,

Publication Date: 2019-11

Variant appearance in text: TMPRSS3: 325C>T; Arg109Trp

PubMed Link: 31160754

Variant Present in the following documents:

• NIHMS1586971-supplement-1586971_SuppTable2.xlsx, sheet 1

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: TMPRSS3: 325C>T; Arg109Trp

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

View BVdb publication page

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Identification of TMPRSS3 as a Significant Contributor to Autosomal Recessive Hearing Loss in the Chinese Population.

Neural Plasticity

Gao, Xue X; Huang, Sha-Sha SS; Yuan, Yong-Yi YY; Xu, Jin-Cao JC; Gu, Ping P; Bai, Dan D; Kang, Dong-Yang DY; Han, Ming-Yu MY; Wang, Guo-Jian GJ; Zhang, Mei-Guang MG; Li, Jia J; Dai, Pu P

Publication Date: 2017

Variant appearance in text: TMPRSS3: 325C>T

PubMed Link: 28695016

Variant Present in the following documents:

• Main text
• NP2017-3192090.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: TMPRSS3: 325C>T; Arg109Trp

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Novel Mutations and Mutation Combinations of TMPRSS3 Cause Various Phenotypes in One Chinese Family with Autosomal Recessive Hearing Impairment.

Biomed Research International

Gao, Xue X; Yuan, Yong-Yi YY; Wang, Guo-Jian GJ; Xu, Jin-Cao JC; Su, Yu Y; Lin, Xi X; Dai, Pu P

Publication Date: 2017

Variant appearance in text: TMPRSS3: Arg109Trp

PubMed Link: 28246597

Variant Present in the following documents:

• BMRI2017-4707315.pdf

View BVdb publication page

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Proteome-wide Structural Analysis of PTM Hotspots Reveals Regulatory Elements Predicted to Impact Biological Function and Disease.

Molecular & Cellular Proteomics : Mcp

Torres, Matthew P MP; Dewhurst, Henry H; Sundararaman, Niveda N

Publication Date: 2016-11

Variant appearance in text: TMPRSS3: 325C>T; Arg109Trp

PubMed Link: 27697855

Variant Present in the following documents:

• 10.1074_M116.062331_mcp.M116.062331-3.xlsx, sheet 5

View BVdb publication page

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Social Health Insurance-Based Simultaneous Screening for 154 Mutations in 19 Deafness Genes Efficiently Identified Causative Mutations in Japanese Hearing Loss Patients.

Plos One

Mori, Kentaro K; Moteki, Hideaki H; Miyagawa, Maiko M; Nishio, Shin-Ya SY; Usami, Shin-Ichi S

Publication Date: 2016

Variant appearance in text: TMPRSS3: 325C>T; R109W

PubMed Link: 27627659

Variant Present in the following documents:

• pone.0162230.s001.xlsx, sheet 1

View BVdb publication page

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Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss.

Human Genetics

Sloan-Heggen, Christina M CM; Bierer, Amanda O AO; Shearer, A Eliot AE; Kolbe, Diana L DL; Nishimura, Carla J CJ; Frees, Kathy L KL; Ephraim, Sean S SS; Shibata, Seiji B SB; Booth, Kevin T KT; Campbell, Colleen A CA; Ranum, Paul T PT; Weaver, Amy E AE; Black-Ziegelbein, E Ann EA; Wang, Donghong D; Azaiez, Hela H; Smith, Richard J H RJH

Publication Date: 2016-04

Variant appearance in text: TMPRSS3: 325C>T; Arg109Trp

PubMed Link: 26969326

Variant Present in the following documents:

• 439_2016_1648_MOESM1_ESM.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: TMPRSS3: R109W

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

View BVdb publication page

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Identification of a novel homozygous mutation, TMPRSS3: c.535G>A, in a Tibetan family with autosomal recessive non-syndromic hearing loss.

Plos One

Fan, Dongyan D; Zhu, Wei W; Li, Dejun D; Ji, De D; Wang, Ping P

Publication Date: 2014

Variant appearance in text: TMPRSS3: 325C>T

PubMed Link: 25474651

Variant Present in the following documents:

• Main text

View BVdb publication page

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Novel TMPRSS3 variants in Pakistani families with autosomal recessive non-syndromic hearing impairment.

Clinical Genetics

Lee, K K; Khan, S S; Islam, A A; Ansar, M M; Andrade, P B PB; Kim, S S; Santos-Cortez, R L P RL; Ahmad, W W; Leal, S M SM

Publication Date: 2012-07

Variant appearance in text: TMPRSS3: 325C>T; Arg109Trp

PubMed Link: 21534946

Variant Present in the following documents:

• Main text

View BVdb publication page

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Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and Pakistan.

Bmc Medical Genetics

Ahmed, Zubair M ZM; Li, Xiaoyan Cindy XC; Powell, Shontell D SD; Riazuddin, Saima S; Young, Terry-Lynn TL; Ramzan, Khushnooda K; Ahmad, Zahoor Z; Luscombe, Sandra S; Dhillon, Kiran K; MacLaren, Linda L; Ploplis, Barbara B; Shotland, Lawrence I LI; Ives, Elizabeth E; Riazuddin, Sheikh S; Friedman, Thomas B TB; Morell, Robert J RJ; Wilcox, Edward R ER

Publication Date: 2004-09-24

Variant appearance in text: TMPRSS3: R109W

PubMed Link: 15447792

Variant Present in the following documents:

• Main text
• 1471-2350-5-24.pdf

View BVdb publication page

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