Publications:

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Genetic Etiology of Nonsyndromic Hearing Loss in Hungarian Patients.

International Journal Of Molecular Sciences

Pál, Margit M; Nagy, Dóra D; Neller, Alexandra A; Farkas, Katalin K; Leprán-Török, Dóra D; Nagy, Nikoletta N; Füstös, Dalma D; Nagy, Roland R; Németh, Adrienne A; Szilvássy, Judit J; Rovó, László L; Kiss, József Géza JG; Széll, Márta M

Publication Date: 2023-04-17

Variant appearance in text: TMPRSS3: 208delC

PubMed Link: 37108562

Variant Present in the following documents:

• Main text
• ijms-24-07401.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: 208delC; His70Thrfs*19

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: 208delC; His70Thrfs*19

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: 208delC

PubMed Link: 34868270

Variant Present in the following documents:

• Main text

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: 208del; His70Thrfs*19

PubMed Link: 34753855

Variant Present in the following documents:

• aud-43-1049-s004.pdf

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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: 208delC; H70TfsX19

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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Putative Digenic GJB2/MYO7A Inheritance of Hearing Loss Detected in a Patient with 48,XXYY Klinefelter Syndrome.

Human Heredity

Zhang, Qin Q; Qin, Tiantian T; Hu, Wenmu W; Janjua, Muhammad Usman MU; Jin, Ping P

Publication Date: 2020

Variant appearance in text: TMPRSS3: 208delC

PubMed Link: 34192699

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genomic Sequencing for Newborn Screening: Results of the NC NEXUS Project.

American Journal Of Human Genetics

Roman, Tamara S TS; Crowley, Stephanie B SB; Roche, Myra I MI; Foreman, Ann Katherine M AKM; O'Daniel, Julianne M JM; Seifert, Bryce A BA; Lee, Kristy K; Brandt, Alicia A; Gustafson, Chelsea C; DeCristo, Daniela M DM; Strande, Natasha T NT; Ramkissoon, Lori L; Milko, Laura V LV; Owen, Phillips P; Roy, Sayanty S; Xiong, Mai M; Paquin, Ryan S RS; Butterfield, Rita M RM; Lewis, Megan A MA; Souris, Katherine J KJ; Bailey, Donald B DB; Rini, Christine C; Booker, Jessica K JK; Powell, Bradford C BC; Weck, Karen E KE; Powell, Cynthia M CM; Berg, Jonathan S JS

Publication Date: 2020-10-01

Variant appearance in text: TMPRSS3: 208del; His70fs

PubMed Link: 32853555

Variant Present in the following documents:

• Main text

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: 208delC

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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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: 208delC; His70fs

PubMed Link: 31980526

Variant Present in the following documents:

• pnas.1909378117.sd01.xlsx, sheet 3

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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: 208delC; His70fs; rs727503493

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

View BVdb publication page

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Overinterpretation of high throughput sequencing data in medical genetics: first evidence against TMPRSS3/GJB2 digenic inheritance of hearing loss.

Journal Of Translational Medicine

Ołdak, Monika M; Lechowicz, Urszula U; Pollak, Agnieszka A; Oziębło, Dominika D; Skarżyński, Henryk H

Publication Date: 2019-08-14

Variant appearance in text: TMPRSS3: 208delC; His70Thrfs*19

PubMed Link: 31412945

Variant Present in the following documents:

• Main text

View BVdb publication page

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OligoPVP: Phenotype-driven analysis of individual genomic information to prioritize oligogenic disease variants.

Scientific Reports

Boudellioua, Imane I; Kulmanov, Maxat M; Schofield, Paul N PN; Gkoutos, Georgios V GV; Hoehndorf, Robert R

Publication Date: 2018-10-02

Variant appearance in text: TMPRSS3: 208delC

PubMed Link: 30279426

Variant Present in the following documents:

• 41598_2018_32876_MOESM1_ESM.pdf

View BVdb publication page

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Diagnostic outcomes of exome sequencing in patients with syndromic or non-syndromic hearing loss.

Plos One

Likar, Tina T; Hasanhodžić, Mensuda M; Teran, Nataša N; Maver, Aleš A; Peterlin, Borut B; Writzl, Karin K

Publication Date: 2018

Variant appearance in text: TMPRSS3: 208delC

PubMed Link: 29293505

Variant Present in the following documents:

• Main text
• pone.0188578.pdf

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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: 208delC

PubMed Link: 28695016

Variant Present in the following documents:

• Main text
• NP2017-3192090.pdf

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Genetic causes of moderate to severe hearing loss point to modifiers.

Clinical Genetics

Naz, Sadaf S; Imtiaz, Ayesha A; Mujtaba, Ghulam G; Maqsood, Azra A; Bashir, Rasheeda R; Bukhari, Ihtisham I; Khan, Muhammad R MR; Ramzan, Memoona M; Fatima, Amara A; Rehman, Atteeq U AU; Iqbal, Muddassar M; Chaudhry, Taimur T; Lund, Merete M; Brewer, Carmen C CC; Morell, Robert J RJ; Friedman, Thomas B TB

Publication Date: 2017-04

Variant appearance in text: TMPRSS3: 208delC; His70ThrfsX19

PubMed Link: 27573290

Variant Present in the following documents:

• Main text

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: 208delC

PubMed Link: 26969326

Variant Present in the following documents:

• 439_2016_1648_MOESM1_ESM.pdf

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Pathogenic p.Cys194Metfs*17 variant argues against TMPRSS3/GJB2 digenic inheritance of hearing loss.

European Archives Of Oto-Rhino-Laryngology : Official Journal Of The European Federation Of Oto-Rhino-Laryngological Societies (Eufos) : Affiliated With The German Society For Oto-Rhino-Laryngology - Head And Neck Surgery

Lechowicz, Urszula U; Pollak, Agnieszka A; Oziębło, Dominka D; Ołdak, Monika M

Publication Date: 2016-05

Variant appearance in text: TMPRSS3: 208delC

PubMed Link: 26408194

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: 207delC

PubMed Link: 21786053

Variant Present in the following documents:

• Main text

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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: 207delC; H70TfsX19

PubMed Link: 21534946

Variant Present in the following documents:

• Main text

View BVdb publication page

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