Publications:

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Asymmetric pendrin homodimer reveals its molecular mechanism as anion exchanger.

Nature Communications

Liu, Qianying Q; Zhang, Xiang X; Huang, Hui H; Chen, Yuxin Y; Wang, Fang F; Hao, Aihua A; Zhan, Wuqiang W; Mao, Qiyu Q; Hu, Yuxia Y; Han, Lin L; Sun, Yifang Y; Zhang, Meng M; Liu, Zhimin Z; Li, Geng-Lin GL; Zhang, Weijia W; Shu, Yilai Y; Sun, Lei L; Chen, Zhenguo Z

Publication Date: 2023-05-25

Variant appearance in text: SLC26A4: 626G>T; Gly209Val

PubMed Link: 37230976

Variant Present in the following documents:

• 41467_2023_38303_MOESM6_ESM.pdf
• 41467_2023_38303_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Insight into the Natural History of Pathogenic Variant c.919-2A>G in the SLC26A4 Gene Involved in Hearing Loss: The Evidence for Its Common Origin in Southern Siberia (Russia).

Genes

Danilchenko, Valeriia Yu VY; Zytsar, Marina V MV; Maslova, Ekaterina A EA; Orishchenko, Konstantin E KE; Posukh, Olga L OL

Publication Date: 2023-04-17

Variant appearance in text: SLC26A4: 626G>T

PubMed Link: 37107686

Variant Present in the following documents:

• Main text
• genes-14-00928.pdf

View BVdb publication page

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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: SLC26A4: 626G>T; Gly209Val

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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Selection of Diagnostically Significant Regions of the SLC26A4 Gene Involved in Hearing Loss.

International Journal Of Molecular Sciences

Danilchenko, Valeriia Yu VY; Zytsar, Marina V MV; Maslova, Ekaterina A EA; Posukh, Olga L OL

Publication Date: 2022-11-03

Variant appearance in text: SLC26A4: Gly209Val

PubMed Link: 36362242

Variant Present in the following documents:

• Main text
• ijms-23-13453.pdf

View BVdb publication page

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Characterization of hearing-impairment in Generalized Arterial Calcification of Infancy (GACI).

Orphanet Journal Of Rare Diseases

Theng, Elizabeth H EH; Brewer, Carmen C CC; Oheim, Ralf R; Zalewski, Christopher K CK; King, Kelly A KA; Delsmann, Maximillian M MM; Rolvien, Tim T; Gafni, Rachel I RI; Braddock, Demetrios T DT; Jeffrey Kim, H H; Ferreira, Carlos R CR

Publication Date: 2022-07-19

Variant appearance in text: SLC26A4: Gly209Val

PubMed Link: 35854274

Variant Present in the following documents:

• Main text
• 13023_2022_Article_2410.pdf

View BVdb publication page

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Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.

Orphanet Journal Of Rare Diseases

Huang, Xinwen X; Wu, Dingwen D; Zhu, Lin L; Wang, Wenjun W; Yang, Rulai R; Yang, Jianbin J; He, Qunyan Q; Zhu, Bingquan B; You, Ying Y; Xiao, Rui R; Zhao, Zhengyan Z

Publication Date: 2022-02-21

Variant appearance in text: SLC26A4: 626G>T

PubMed Link: 35193651

Variant Present in the following documents:

• 13023_2022_2231_MOESM2_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: SLC26A4: G209V; rs111033303

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 8
• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7
• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9

View BVdb publication page

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Mutation Screening and Functional Study of SLC26A4 in Chinese Patients with Congenital Hypothyroidism

Journal Of Clinical Research In Pediatric Endocrinology

Zhang, Chang-Run CR; Shi, Yuan-Ping YP; Zhang, Cao-Xu CX; Sun, Feng F; Zhu, Wen-Jiao WJ; Zhang, Rui-Jia RJ; Fang, Ya Y; Zhang, Qian-Yue QY; Yan, Chen-Yan CY; Ying, Ying-Xia YX; Zhao, Shuang-Xia SX; Song, Huai-Dong HD

Publication Date: 2022-03-03

Variant appearance in text: SLC26A4: G209V

PubMed Link: 34545167

Variant Present in the following documents:

• Main text
• JCRPE-14-46.pdf

View BVdb publication page

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Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.

Genome Medicine

Wang, Zishan Z; Fan, Xiao X; Shen, Yufeng Y; Pagadala, Meghana S MS; Signer, Rebecca R; Cygan, Kamil J KJ; Fairbrother, William G WG; Carter, Hannah H; Chung, Wendy K WK; Huang, Kuan-Lin KL

Publication Date: 2021-09-09

Variant appearance in text: SLC26A4: G209V

PubMed Link: 34503567

Variant Present in the following documents:

• 13073_2021_964_MOESM6_ESM.xlsx, sheet 1
• 13073_2021_964_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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A multiplex PCR amplicon sequencing assay to screen genetic hearing loss variants in newborns.

Bmc Medical Genomics

Yang, Haiyan H; Luo, Hongyu H; Zhang, Guiwei G; Zhang, Junqing J; Peng, Zhiyu Z; Xiang, Jiale J

Publication Date: 2021-02-27

Variant appearance in text: SLC26A4: 626G>T

PubMed Link: 33639928

Variant Present in the following documents:

• 12920_2021_Article_906.pdf

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: SLC26A4: 626G>T; Gly209Val

PubMed Link: 32853555

Variant Present in the following documents:

• Main text

View BVdb publication page

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Exome and genome sequencing in adults with undiagnosed disease: a prospective cohort study.

Journal Of Medical Genetics

Shickh, Salma S; Gutierrez Salazar, Mariana M; Zakoor, Kathleen-Rose KR; Lázaro, Conxi C; Gu, Jessica J; Goltz, Jamie J; Kleinman, Dakota D; Noor, Abdul A; Khalouei, Sam S; Mighton, Chloe C; Reble, Emma E; Kodida, Rita R; Bombard, Yvonne Y; DiTroia, Stephanie S; Baxter, Samantha S; Watkins, Nicholas N; Care, Melanie M; Adler, Arnon A; Horsburgh, Sheri S; Morar, Oana O; Murphy, Jillian J; Nevay, Dayna-Lynn DL; Szybowska, Marta M; Aronson, Melyssa M; Panchal, Seema S; Godoy, Ruth R; Holter, Spring S; Randall Armel, Susan S; Semotiuk, Kara K; Elser, Christine C; Kim, Raymond H RH; Chitayat, David D; So, Joyce J; Faghfoury, Hanna H; Silver, Josh J; Morel, Chantal F CF; Lerner-Ellis, Jordan J

Publication Date: 2021-04

Variant appearance in text: SLC26A4: 626G>T; Gly209Val

PubMed Link: 32581083

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: SLC26A4: 626G>T; G209V

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: SLC26A4: 626G>T; Gly209Val

PubMed Link: 31980526

Variant Present in the following documents:

• pnas.1909378117.sd01.xlsx, sheet 3

View BVdb publication page

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Computational analysis of functional single nucleotide polymorphisms associated with SLC26A4 gene.

Plos One

Hasnain, Mirza Jawad Ul MJU; Shoaib, Muhammad M; Qadri, Salman S; Afzal, Bakhtawar B; Anwar, Tehreem T; Abbas, Syed Hassan SH; Sarwar, Amina A; Talha Malik, Hafiz Muhammad HM; Tariq Pervez, Muhammad M

Publication Date: 2020

Variant appearance in text: SLC26A4: G209V; rs111033303

PubMed Link: 31971949

Variant Present in the following documents:

• Main text
• pone.0225368.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: SLC26A4: 626G>T; Gly209Val; rs111033303

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.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: SLC26A4: 626G>T; Gly209Val

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.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: SLC26A4: G209V; rs111033303

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Genes important for otoneurological diagnostic purposes - current status and future prospects.

Acta Otorhinolaryngologica Italica : Organo Ufficiale Della Societa Italiana Di Otorinolaringologia E Chirurgia Cervico-Facciale

Pawlak-Osiñska, K K; Linkowska, K K; Grzybowski, T T

Publication Date: 2018-06

Variant appearance in text: SLC26A4: G209V

PubMed Link: 29984802

Variant Present in the following documents:

• Main text

View BVdb publication page

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Functional Testing of SLC26A4 Variants-Clinical and Molecular Analysis of a Cohort with Enlarged Vestibular Aqueduct from Austria.

International Journal Of Molecular Sciences

Roesch, Sebastian S; Bernardinelli, Emanuele E; Nofziger, Charity C; Tóth, Miklós M; Patsch, Wolfgang W; Rasp, Gerd G; Paulmichl, Markus M; Dossena, Silvia S

Publication Date: 2018-01-10

Variant appearance in text: SLC26A4: G209V

PubMed Link: 29320412

Variant Present in the following documents:

• Main text
• ijms-19-00209.pdf

View BVdb publication page

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Identification of potentially oncogenic alterations from tumor-only samples reveals Fanconi anemia pathway mutations in bladder carcinomas.

Npj Genomic Medicine

Madubata, Chioma J CJ; Roshan-Ghias, Alireza A; Chu, Timothy T; Resnick, Samuel S; Zhao, Junfei J; Arnes, Luis L; Wang, Jiguang J; Rabadan, Raul R

Publication Date: 2017

Variant appearance in text: rs111033303

PubMed Link: 29263839

Variant Present in the following documents:

• 41525_2017_32_MOESM8_ESM.xlsx, sheet 6

View BVdb publication page

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Novel pathogenic variants underlie SLC26A4-related hearing loss in a multiethnic cohort.

International Journal Of Pediatric Otorhinolaryngology

Cengiz, Filiz Basak FB; Yilmazer, Rasim R; Olgun, Levent L; Sennaroglu, Levent L; Kirazli, Tayfun T; Alper, Hudaver H; Olgun, Yuksel Y; Incesulu, Armagan A; Atik, Tahir T; Huesca-Hernandez, Fabiola F; Domínguez-Aburto, Juan J; González-Rosado, Garly G; Hernandez-Zamora, Edgar E; Arenas-Sordo, Maria de la Luz ML; Menendez, Ibis I; Orhan, Kadir Serkan KS; Avci, Hakan H; Mahdieh, Nejat N; Bonyadi, Mortaza M; Foster, Joseph J; Duman, Duygu D; Ozkinay, Ferda F; Blanton, Susan H SH; Bademci, Guney G; Tekin, Mustafa M

Publication Date: 2017-10

Variant appearance in text: SLC26A4: 626G>T

PubMed Link: 28964290

Variant Present in the following documents:

• Main text

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: SLC26A4: 626G>T; Gly209Val

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.

Scientific Reports

Chen, Xiaowei Sylvia XS; Reader, Rose H RH; Hoischen, Alexander A; Veltman, Joris A JA; Simpson, Nuala H NH; Francks, Clyde C; Newbury, Dianne F DF; Fisher, Simon E SE

Publication Date: 2017-04-25

Variant appearance in text: SLC26A4: G209V; rs111033303

PubMed Link: 28440294

Variant Present in the following documents:

• srep46105-s2.xls, sheet 6
• srep46105-s2.xls, sheet 8

View BVdb publication page

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Diagnostic Value of SLC26A4 Mutation Status in Hereditary Hearing Loss With EVA: A PRISMA-Compliant Meta-Analysis.

Medicine

Lu, Ya-Jie YJ; Yao, Jun J; Wei, Qin-Jun QJ; Xing, Guang-Qian GQ; Cao, Xin X

Publication Date: 2015-12

Variant appearance in text: SLC26A4: G209V

PubMed Link: 26683941

Variant Present in the following documents:

• Main text
• medi-94-e2248.pdf

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: DFNB4: G209V

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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Atypical patterns of segregation of familial enlargement of the vestibular aqueduct.

The Laryngoscope

Muskett, Julie A JA; Chattaraj, Parna P; Heneghan, John F JF; Reimold, Fabian R FR; Shmukler, Boris E BE; Brewer, Carmen C CC; King, Kelly A KA; Zalewski, Christopher K CK; Shawker, Thomas H TH; Butman, John A JA; Kenna, Margaret A MA; Chien, Wade W WW; Alper, Seth L SL; Griffith, Andrew J AJ

Publication Date: 2016-07

Variant appearance in text: SLC26A4: G209V

PubMed Link: 26485571

Variant Present in the following documents:

• Main text

View BVdb publication page

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Cochlear Implant Outcomes and Genetic Mutations in Children with Ear and Brain Anomalies.

Biomed Research International

Busi, Micol M; Rosignoli, Monica M; Castiglione, Alessandro A; Minazzi, Federica F; Trevisi, Patrizia P; Aimoni, Claudia C; Calzolari, Ferdinando F; Granieri, Enrico E; Martini, Alessandro A

Publication Date: 2015

Variant appearance in text: SLC26A4: G209V

PubMed Link: 26236732

Variant Present in the following documents:

• Main text
• BMRI2015-696281.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: SLC26A4: G209V

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 3

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: SLC26A4: G209V

PubMed Link: 25807536

Variant Present in the following documents:

• pone.0121644.s002.xls, sheet 1

View BVdb publication page

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Integrated analysis of germline and somatic variants in ovarian cancer.

Nature Communications

Kanchi, Krishna L KL; Johnson, Kimberly J KJ; Lu, Charles C; McLellan, Michael D MD; Leiserson, Mark D M MD; Wendl, Michael C MC; Zhang, Qunyuan Q; Koboldt, Daniel C DC; Xie, Mingchao M; Kandoth, Cyriac C; McMichael, Joshua F JF; Wyczalkowski, Matthew A MA; Larson, David E DE; Schmidt, Heather K HK; Miller, Christopher A CA; Fulton, Robert S RS; Spellman, Paul T PT; Mardis, Elaine R ER; Druley, Todd E TE; Graubert, Timothy A TA; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Wilson, Richard K RK; Ding, Li L

Publication Date: 2014

Variant appearance in text: SLC26A4: G209V

PubMed Link: 24448499

Variant Present in the following documents:

• NIHMS551112-supplement-7.xlsx, sheet 1

View BVdb publication page

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Anion translocation through an Slc26 transporter mediates lumen expansion during tubulogenesis.

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

Deng, Wei W; Nies, Florian F; Feuer, Anja A; Bocina, Ivana I; Oliver, Dominik D; Jiang, Di D

Publication Date: 2013-09-10

Variant appearance in text: SLC26A4: G209V

PubMed Link: 23980138

Variant Present in the following documents:

• Main text

View BVdb publication page

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Lack of significant association between mutations of KCNJ10 or FOXI1 and SLC26A4 mutations in Pendred syndrome/enlarged vestibular aqueducts.

Bmc Medical Genetics

Landa, Priya P; Differ, Ann-Marie AM; Rajput, Kaukab K; Jenkins, Lucy L; Bitner-Glindzicz, Maria M

Publication Date: 2013-08-21

Variant appearance in text: SLC26A4: 626G>T; Gly209Val

PubMed Link: 23965030

Variant Present in the following documents:

• Main text
• 1471-2350-14-85.pdf

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: SLC26A4: 626G>T; rs111033303

PubMed Link: 23334666

Variant Present in the following documents:

• NIHMS474900-supplement-8.xlsx, sheet 1

View BVdb publication page

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Mutation analysis of SLC26A4 for Pendred syndrome and nonsyndromic hearing loss by high-resolution melting.

The Journal Of Molecular Diagnostics : Jmd

Chen, Neng N; Tranebjærg, Lisbeth L; Rendtorff, Nanna Dahl ND; Schrijver, Iris I

Publication Date: 2011-07

Variant appearance in text: SLC26A4: 626G>T

PubMed Link: 21704276

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genotyping with a 198 mutation arrayed primer extension array for hereditary hearing loss: assessment of its diagnostic value for medical practice.

Plos One

Rodriguez-Paris, Juan J; Pique, Lynn L; Colen, Tahl T; Roberson, Joseph J; Gardner, Phyllis P; Schrijver, Iris I

Publication Date: 2010-07-26

Variant appearance in text: SLC26A4: G209V

PubMed Link: 20668687

Variant Present in the following documents:

• Main text
• pone.0011804.pdf

View BVdb publication page

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Evaluation of the thyroid in patients with hearing loss and enlarged vestibular aqueducts.

Archives Of Otolaryngology--Head & Neck Surgery

Madeo, Anne C AC; Manichaikul, Ani A; Reynolds, James C JC; Sarlis, Nicholas J NJ; Pryor, Shannon P SP; Shawker, Thomas H TH; Griffith, Andrew J AJ

Publication Date: 2009-07

Variant appearance in text: SLC26A4: G209V

PubMed Link: 19620588

Variant Present in the following documents:

• Main text

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Hypo-functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: genotype-phenotype correlation or coincidental polymorphisms?

Human Mutation

Choi, Byung Yoon BY; Stewart, Andrew K AK; Madeo, Anne C AC; Pryor, Shannon P SP; Lenhard, Suzanne S; Kittles, Rick R; Eisenman, David D; Kim, H Jeffrey HJ; Niparko, John J; Thomsen, James J; Arnos, Kathleen S KS; Nance, Walter E WE; King, Kelly A KA; Zalewski, Christopher K CK; Brewer, Carmen C CC; Shawker, Thomas T; Reynolds, James C JC; Butman, John A JA; Karniski, Lawrence P LP; Alper, Seth L SL; Griffith, Andrew J AJ

Publication Date: 2009-04

Variant appearance in text: SLC26A4: 626G>T; G209V

PubMed Link: 19204907

Variant Present in the following documents:

• Main text

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Molecular etiology of hearing impairment in Inner Mongolia: mutations in SLC26A4 gene and relevant phenotype analysis.

Journal Of Translational Medicine

Dai, Pu P; Yuan, Yongyi Y; Huang, Deliang D; Zhu, Xiuhui X; Yu, Fei F; Kang, Dongyang D; Yuan, Huijun H; Wu, Bailin B; Han, Dongyi D; Wong, Lee-Jun C LJ

Publication Date: 2008-11-30

Variant appearance in text: SLC26A4: G209V

PubMed Link: 19040761

Variant Present in the following documents:

• Main text
• 1479-5876-6-74.pdf

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Functional assessment of allelic variants in the SLC26A4 gene involved in Pendred syndrome and nonsyndromic EVA.

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

Pera, Alejandra A; Dossena, Silvia S; Rodighiero, Simona S; Gandía, Marta M; Bottà, Guido G; Meyer, Giuliano G; Moreno, Felipe F; Nofziger, Charity C; Hernández-Chico, Concepción C; Paulmichl, Markus M

Publication Date: 2008-11-25

Variant appearance in text: DFNB4: G209V

PubMed Link: 19017801

Variant Present in the following documents:

• Main text

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Transcriptional control of SLC26A4 is involved in Pendred syndrome and nonsyndromic enlargement of vestibular aqueduct (DFNB4).

American Journal Of Human Genetics

Yang, Tao T; Vidarsson, Hilmar H; Rodrigo-Blomqvist, Sandra S; Rosengren, Sally S SS; Enerback, Sven S; Smith, Richard J H RJ

Publication Date: 2007-06

Variant appearance in text: SLC26A4: G209V

PubMed Link: 17503324

Variant Present in the following documents:

• Main text

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