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: 1151A>G; Glu384Gly

PubMed Link: 37230976

Variant Present in the following documents:

• 41467_2023_38303_MOESM3_ESM.xlsx, sheet 1

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: 1151A>G; Glu384Gly

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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Atypical Presentation of Enlarged Vestibular Aqueducts Caused by SLC26A4 Variants.

Children (Basel, Switzerland)

Byun, Jun Chul JC; Lee, Kyu-Yup KY; Hwang, Su-Kyeong SK

Publication Date: 2022-01-28

Variant appearance in text: SLC26A4: Glu384Gly

PubMed Link: 35204885

Variant Present in the following documents:

• Main text
• children-09-00165.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: 1151A>G

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: E384G; rs111033244

PubMed Link: 35115730

Variant Present in the following documents:

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

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: E384G

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: 1151A>G

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: 1151A>G; Glu384Gly

PubMed Link: 32853555

Variant Present in the following documents:

• Main text

View BVdb publication page

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Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances

Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X

Publication Date: 2020-07

Variant appearance in text: SLC26A4: 1151A>G; Glu384Gly

PubMed Link: 32832622

Variant Present in the following documents:

• aba1773_Data_file_S1.xlsx, sheet 2
• aba1773_Data_file_S1.xlsx, sheet 3

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: 1151A>G; E384G

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: 1151A>G; Glu384Gly

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: E384G; rs111033244

PubMed Link: 31971949

Variant Present in the following documents:

• Main text
• pone.0225368.pdf

View BVdb publication page

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Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels.

Genome Medicine

Kanavy, Dona M DM; McNulty, Shannon M SM; Jairath, Meera K MK; Brnich, Sarah E SE; Bizon, Chris C; Powell, Bradford C BC; Berg, Jonathan S JS

Publication Date: 2019-11-29

Variant appearance in text: SLC26A4: E384G

PubMed Link: 31783775

Variant Present in the following documents:

• 13073_2019_683_MOESM2_ESM.xlsx, sheet 5

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: 1151A>G; Glu384Gly; rs111033244

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.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: E384G; rs111033244

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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A common SLC26A4-linked haplotype underlying non-syndromic hearing loss with enlargement of the vestibular aqueduct.

Journal Of Medical Genetics

Chattaraj, Parna P; Munjal, Tina T; Honda, Keiji K; Rendtorff, Nanna D ND; Ratay, Jessica S JS; Muskett, Julie A JA; Risso, Davide S DS; Roux, Isabelle I; Gertz, E Michael EM; Schäffer, Alejandro A AA; Friedman, Thomas B TB; Morell, Robert J RJ; Tranebjærg, Lisbeth L; Griffith, Andrew J AJ

Publication Date: 2017-10

Variant appearance in text: SLC26A4: Glu384Gly

PubMed Link: 28780564

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: 1151A>G; Glu384Gly

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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: E384G

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: 1151A>G; E384G

PubMed Link: 26485571

Variant Present in the following documents:

• Main text

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: E384G

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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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: 1151A>G; Glu384Gly

PubMed Link: 23965030

Variant Present in the following documents:

• Main text

View BVdb publication page

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SLC26A4 mutations in patients with moderate to severe hearing loss.

Biochemical Genetics

Khan, Muhammad Riaz MR; Bashir, Rasheeda R; Naz, Sadaf S

Publication Date: 2013-08

Variant appearance in text: DFNB4: E384G

PubMed Link: 23504402

Variant Present in the following documents:

• Main text

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: 1151A>G; rs111033244

PubMed Link: 23334666

Variant Present in the following documents:

• NIHMS474900-supplement-8.xlsx, sheet 1

View BVdb publication page

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An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals.

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

Lazarin, Gabriel A GA; Haque, Imran S IS; Nazareth, Shivani S; Iori, Kevin K; Patterson, A Scott AS; Jacobson, Jessica L JL; Marshall, John R JR; Seltzer, William K WK; Patrizio, Pasquale P; Evans, Eric A EA; Srinivasan, Balaji S BS

Publication Date: 2013-03

Variant appearance in text: SLC26A4: E384G

PubMed Link: 22975760

Variant Present in the following documents:

• gim2012114x1.pdf

View BVdb publication page

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Autosomal recessive nonsyndromic deafness genes: a review.

Frontiers In Bioscience (Landmark Edition)

Duman, Duygu D; Tekin, Mustafa M

Publication Date: 2012-06-01

Variant appearance in text: SLC26A4: E384G

PubMed Link: 22652773

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic mutations in non-syndromic deafness patients of Uyghur and Han Chinese ethnicities in Xinjiang, China: a comparative study.

Journal Of Translational Medicine

Chen, Yu Y; Tudi, Mayila M; Sun, Jie J; He, Chao C; Lu, Hong-Li HL; Shang, Qing Q; Jiang, Di D; Kuyaxi, Pilidong P; Hu, Bin B; Zhang, Hua H

Publication Date: 2011-09-14

Variant appearance in text: SLC26A4: E384G

PubMed Link: 21917135

Variant Present in the following documents:

• Main text
• 1479-5876-9-154.pdf

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: 1151A>G

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: E384G

PubMed Link: 20668687

Variant Present in the following documents:

View BVdb publication page

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Impact of gene patents and licensing practices on access to genetic testing for hearing loss.

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

Chandrasekharan, Subhashini S; Fiffer, Melissa M

Publication Date: 2010-04

Variant appearance in text: SLC26A4: E384G

PubMed Link: 20393307

Variant Present in the following documents:

• Main text

View BVdb publication page

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Efficient molecular genetic diagnosis of enlarged vestibular aqueducts in East Asians.

Genetic Testing And Molecular Biomarkers

Choi, Byung Yoon BY; Stewart, Andrew K AK; Nishimura, Katherine K KK; Cha, Won Jae WJ; Seong, Moon-Woo MW; Park, Sung Sup SS; Kim, Seung Won SW; Chun, Yang Sook YS; Chung, Jong Woo JW; Park, Shi-Nae SN; Chang, Sun O SO; Kim, Chong-Sun CS; Alper, Seth L SL; Griffith, Andrew J AJ; Oh, Seung-Ha SH

Publication Date: 2009-10

Variant appearance in text: SLC26A4: E384G

PubMed Link: 19645628

Variant Present in the following documents:

• Main text

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: E384G

PubMed Link: 19620588

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: 1151A>G; E384G

PubMed Link: 19204907

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: SLC26A4: E384G

PubMed Link: 19017801

Variant Present in the following documents:

• Main text

View BVdb publication page

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Forty-six genes causing nonsyndromic hearing impairment: which ones should be analyzed in DNA diagnostics?

Mutation Research

Hilgert, Nele N; Smith, Richard J H RJH; Van Camp, Guy G

Publication Date: 2009

Variant appearance in text: SLC26A4: E384G

PubMed Link: 18804553

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: E384G

PubMed Link: 17503324

Variant Present in the following documents:

• Main text

View BVdb publication page

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Detection of mutations in genes associated with hearing loss using a microarray-based approach.

The Journal Of Molecular Diagnostics : Jmd

Siemering, Kirby K; Manji, Shehnaaz S M SS; Hutchison, Wendy M WM; Du Sart, Desiree D; Phelan, Dean D; Dahl, Hans-Henrik M HH

Publication Date: 2006-09

Variant appearance in text: SLC26A4: E384G

PubMed Link: 16931589

Variant Present in the following documents:

• Main text

View BVdb publication page

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