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: 413C>A; Ala138Glu

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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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: TMPRSS3: 413C>A; Ala138Glu; rs147231991

PubMed Link: 36147510

Variant Present in the following documents:

• DataSheet1.xlsx, sheet 5

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: A138E; rs147231991

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7

View BVdb publication page

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There Is More Than Meets the Eye: Identification of Dual Molecular Diagnosis in Patients Affected by Hearing Loss.

Biomedicines

Morgan, Anna A; Faletra, Flavio F; Severi, Giulia G; La Bianca, Martina M; Licchetta, Laura L; Gasparini, Paolo P; Graziano, Claudio C; Girotto, Giorgia G

Publication Date: 2021-12-22

Variant appearance in text: TMPRSS3: 413C>A; Ala138Glu

PubMed Link: 35052694

Variant Present in the following documents:

• Main text
• biomedicines-10-00012.pdf

View BVdb publication page

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There Is More Than Meets the Eye: Identification of Dual Molecular Diagnosis in Patients Affected by Hearing Loss.

Biomedicines

Morgan, Anna A; Faletra, Flavio F; Severi, Giulia G; La Bianca, Martina M; Licchetta, Laura L; Gasparini, Paolo P; Graziano, Claudio C; Girotto, Giorgia G

Publication Date: 2021-12-22

Variant appearance in text: TMPRSS3: 413C>A; Ala138Glu

PubMed Link: 35052694

Variant Present in the following documents:

• Main text
• biomedicines-10-00012.pdf

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: Ala138Glu

PubMed Link: 34868270

Variant Present in the following documents:

• Main text
• fgene-12-780874.pdf

View BVdb publication page

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Diagnostic Yield of Targeted Hearing Loss Gene Panel Sequencing in a Large German Cohort With a Balanced Age Distribution from a Single Diagnostic Center: An Eight-year Study.

Ear And Hearing

Tropitzsch, Anke A; Schade-Mann, Thore T; Gamerdinger, Philipp P; Dofek, Saskia S; Schulte, Björn B; Schulze, Martin M; Battke, Florian F; Fehr, Sarah S; Biskup, Saskia S; Heyd, Andreas A; Müller, Marcus M; Löwenheim, Hubert H; Vona, Barbara B; Holderried, Martin M

Publication Date: 2022

Variant appearance in text: TMPRSS3: 413C>A

PubMed Link: 34753855

Variant Present in the following documents:

• aud-43-1049-s007.pdf
• aud-43-1049-s008.pdf
• aud-43-1049-s004.pdf

View BVdb publication page

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Racial and ethnic disparities in diagnostic efficacy of comprehensive genetic testing for sensorineural hearing loss.

Human Genetics

Florentine, Michelle M MM; Rouse, Stephanie L SL; Stephans, Jihyun J; Conrad, David D; Czechowicz, Josephine J; Matthews, Ian R IR; Meyer, Anna K AK; Nadaraja, Garani S GS; Parikh, Rajan R; Virbalas, Jordan J; Weinstein, Jacqueline E JE; Chan, Dylan K DK

Publication Date: 2022-04

Variant appearance in text: TMPRSS3: 413C>A; A138E

PubMed Link: 34515852

Variant Present in the following documents:

• 439_2021_2338_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Sequencing for germline mutations in Swedish breast cancer families reveals novel breast cancer risk genes.

Scientific Reports

Helgadottir, Hafdis T HT; Thutkawkorapin, Jessada J; Lagerstedt-Robinson, Kristina K; Lindblom, Annika A

Publication Date: 2021-07-19

Variant appearance in text: rs147231991

PubMed Link: 34282249

Variant Present in the following documents:

• 41598_2021_94316_MOESM1_ESM.xlsx, sheet 2

View BVdb publication page

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NGS-based expanded carrier screening for genetic disorders in North Indian population reveals unexpected results - a pilot study.

Bmc Medical Genetics

Singh, Kanika K; Bijarnia-Mahay, Sunita S; Ramprasad, V L VL; Puri, Ratna Dua RD; Nair, Sandhya S; Sharda, Sheetal S; Saxena, Renu R; Kohli, Sudha S; Kulshreshtha, Samarth S; Ganguli, Indrani I; Gujral, Kanwal K; Verma, Ishwar C IC

Publication Date: 2020-11-02

Variant appearance in text: TMPRSS3: Ala138Glu

PubMed Link: 33138774

Variant Present in the following documents:

• Main text
• 12881_2020_Article_1153.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: TMPRSS3: 413C>A; Ala138Glu; rs147231991

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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Precision medicine integrating whole-genome sequencing, comprehensive metabolomics, and advanced imaging.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Hou, Ying-Chen Claire YC; Yu, Hung-Chun HC; Martin, Rick R; Cirulli, Elizabeth T ET; Schenker-Ahmed, Natalie M NM; Hicks, Michael M; Cohen, Isaac V IV; Jönsson, Thomas J TJ; Heister, Robyn R; Napier, Lori L; Swisher, Christine Leon CL; Dominguez, Saints S; Tang, Haibao H; Li, Weizhong W; Perkins, Bradley A BA; Barea, Jaime J; Rybak, Christina C; Smith, Emily E; Duchicela, Keegan K; Doney, Michael M; Brar, Pamila P; Hernandez, Nathaniel N; Kirkness, Ewen F EF; Kahn, Andrew M AM; Venter, J Craig JC; Karow, David S DS; Caskey, C Thomas CT

Publication Date: 2020-02-11

Variant appearance in text: TMPRSS3: 413C>A; Ala138Glu

PubMed Link: 31980526

Variant Present in the following documents:

• pnas.1909378117.sd01.xlsx, sheet 3

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: 413C>A; Ala138Glu; rs147231991

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

View BVdb publication page

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Disparities in discovery of pathogenic variants for autosomal recessive non-syndromic hearing impairment by ancestry.

European Journal Of Human Genetics : Ejhg

Chakchouk, Imen I; Zhang, Di D; Zhang, Zhihui Z; Francioli, Laurent C LC; Santos-Cortez, Regie Lyn P RLP; Schrauwen, Isabelle I; Leal, Suzanne M SM

Publication Date: 2019-09

Variant appearance in text: TMPRSS3: A138E

PubMed Link: 31053783

Variant Present in the following documents:

• Main text

View BVdb publication page

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In Vivo Electrocochleography in Hybrid Cochlear Implant Users Implicates TMPRSS3 in Spiral Ganglion Function.

Scientific Reports

Shearer, A Eliot AE; Tejani, Viral D VD; Brown, Carolyn J CJ; Abbas, Paul J PJ; Hansen, Marlan R MR; Gantz, Bruce J BJ; Smith, Richard J H RJH

Publication Date: 2018-09-21

Variant appearance in text: TMPRSS3: Ala138Glu

PubMed Link: 30242206

Variant Present in the following documents:

• Main text
• 41598_2018_Article_32630.pdf

View BVdb publication page

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Combined genetic approaches yield a 48% diagnostic rate in a large cohort of French hearing-impaired patients.

Scientific Reports

Baux, D D; Vaché, C C; Blanchet, C C; Willems, M M; Baudoin, C C; Moclyn, M M; Faugère, V V; Touraine, R R; Isidor, B B; Dupin-Deguine, D D; Nizon, M M; Vincent, M M; Mercier, S S; Calais, C C; García-García, G G; Azher, Z Z; Lambert, L L; Perdomo-Trujillo, Y Y; Giuliano, F F; Claustres, M M; Koenig, M M; Mondain, M M; Roux, A F AF

Publication Date: 2017-12-01

Variant appearance in text: TMPRSS3: 413C>A; Ala138Glu; rs147231991

PubMed Link: 29196752

Variant Present in the following documents:

• 41598_2017_16846_MOESM2_ESM.xlsx, sheet 1

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: Ala138Glu

PubMed Link: 28246597

Variant Present in the following documents:

• BMRI2017-4707315.pdf

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: 413C>A; Ala138Glu

PubMed Link: 26969326

Variant Present in the following documents:

• 439_2016_1648_MOESM1_ESM.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: rs147231991

PubMed Link: 25807536

Variant Present in the following documents:

• pone.0121644.s002.xls, sheet 1

View BVdb publication page

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Prediction of cochlear implant performance by genetic mutation: the spiral ganglion hypothesis.

Hearing Research

Eppsteiner, Robert W RW; Shearer, A Eliot AE; Hildebrand, Michael S MS; Deluca, Adam P AP; Ji, Haihong H; Dunn, Camille C CC; Black-Ziegelbein, Elizabeth A EA; Casavant, Thomas L TL; Braun, Terry A TA; Scheetz, Todd E TE; Scherer, Steven E SE; Hansen, Marlan R MR; Gantz, Bruce J BJ; Smith, Richard J H RJ

Publication Date: 2012-10

Variant appearance in text: TMPRSS3: Ala138Glu

PubMed Link: 22975204

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genotype-phenotype correlation in DFNB8/10 families with TMPRSS3 mutations.

Journal Of The Association For Research In Otolaryngology : Jaro

Weegerink, Nicole J D NJ; Schraders, Margit M; Oostrik, Jaap J; Huygen, Patrick L M PL; Strom, Tim M TM; Granneman, Susanne S; Pennings, Ronald J E RJ; Venselaar, Hanka H; Hoefsloot, Lies H LH; Elting, Mariet M; Cremers, Cor W R J CW; Admiraal, Ronald J C RJ; Kremer, Hannie H; Kunst, Henricus P M HP

Publication Date: 2011-12

Variant appearance in text: TMPRSS3: 413C>A

PubMed Link: 21786053

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: 413C>A; Ala138Glu

PubMed Link: 21534946

Variant Present in the following documents:

• Main text

View BVdb publication page

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