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
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: 349C>T; Leu117Phe
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: DFNB4: 349C>T; rs145254330
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: SLC26A4: 349C>T; Leu117Phe
Exploring the missing heritability in subjects with hearing loss, enlarged vestibular aqueducts, and a single or no pathogenic SLC26A4 variant.
Human Genetics
Smits, Jeroen J JJ; de Bruijn, Suzanne E SE; Lanting, Cornelis P CP; Oostrik, Jaap J; O'Gorman, Luke L; Mantere, Tuomo T; , ; Cremers, Frans P M FPM; Roosing, Susanne S; Yntema, Helger G HG; de Vrieze, Erik E; Derks, Ronny R; Hoischen, Alexander A; Pegge, Sjoert A H SAH; Neveling, Kornelia K; Pennings, Ronald J E RJE; Kremer, Hannie H
Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Patel, Mayher J MJ; DiStefano, Marina T MT; Oza, Andrea M AM; Hughes, Madeline Y MY; Wilcox, Emma H EH; Hemphill, Sarah E SE; Cushman, Brandon J BJ; Grant, Andrew R AR; Siegert, Rebecca K RK; Shen, Jun J; Chapin, Alex A; Boczek, Nicole J NJ; Schimmenti, Lisa A LA; Nara, Kiyomitsu K; Kenna, Margaret M; Azaiez, Hela H; Booth, Kevin T KT; Avraham, Karen B KB; Kremer, Hannie H; Griffith, Andrew J AJ; Rehm, Heidi L HL; Amr, Sami S SS; Tayoun, Ahmad N Abou ANA; ,
Publication Date: 2021-11
Variant appearance in text: SLC26A4: 349C>T; Leu117Phe
Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Patel, Mayher J MJ; DiStefano, Marina T MT; Oza, Andrea M AM; Hughes, Madeline Y MY; Wilcox, Emma H EH; Hemphill, Sarah E SE; Cushman, Brandon J BJ; Grant, Andrew R AR; Siegert, Rebecca K RK; Shen, Jun J; Chapin, Alex A; Boczek, Nicole J NJ; Schimmenti, Lisa A LA; Nara, Kiyomitsu K; Kenna, Margaret M; Azaiez, Hela H; Booth, Kevin T KT; Avraham, Karen B KB; Kremer, Hannie H; Griffith, Andrew J AJ; Rehm, Heidi L HL; Amr, Sami S SS; Tayoun, Ahmad N Abou ANA; ,
Publication Date: 2021-11
Variant appearance in text: SLC26A4: 349C>T; Leu117Phe
Digenic inheritance of mutations in EPHA2 and SLC26A4 in Pendred syndrome.
Nature Communications
Li, Mengnan M; Nishio, Shin-Ya SY; Naruse, Chie C; Riddell, Meghan M; Sapski, Sabrina S; Katsuno, Tatsuya T; Hikita, Takao T; Mizapourshafiyi, Fatemeh F; Smith, Fiona M FM; Cooper, Leanne T LT; Lee, Min Goo MG; Asano, Masahide M; Boettger, Thomas T; Krueger, Marcus M; Wietelmann, Astrid A; Graumann, Johannes J; Day, Bryan W BW; Boyd, Andrew W AW; Offermanns, Stefan S; Kitajiri, Shin-Ichiro SI; Usami, Shin-Ichi SI; Nakayama, Masanori M
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: 349C>T; Leu117Phe; rs145254330
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: L117F; rs145254330
Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss.
Human Mutation
Oza, Andrea M AM; DiStefano, Marina T MT; Hemphill, Sarah E SE; Cushman, Brandon J BJ; Grant, Andrew R AR; Siegert, Rebecca K RK; Shen, Jun J; Chapin, Alex A; Boczek, Nicole J NJ; Schimmenti, Lisa A LA; Murry, Jaclyn B JB; Hasadsri, Linda L; Nara, Kiyomitsu K; Kenna, Margaret M; Booth, Kevin T KT; Azaiez, Hela H; Griffith, Andrew A; Avraham, Karen B KB; Kremer, Hannie H; Rehm, Heidi L HL; Amr, Sami S SS; Abou Tayoun, Ahmad N AN; ,
Publication Date: 2018-11
Variant appearance in text: SLC26A4: 349C>T; Leu117Phe
Genomic Landscape and Mutational Signatures of Deafness-Associated Genes.
American Journal Of Human Genetics
Azaiez, Hela H; Booth, Kevin T KT; Ephraim, Sean S SS; Crone, Bradley B; Black-Ziegelbein, Elizabeth A EA; Marini, Robert J RJ; Shearer, A Eliot AE; Sloan-Heggen, Christina M CM; Kolbe, Diana D; Casavant, Thomas T; Schnieders, Michael J MJ; Nishimura, Carla C; Braun, Terry T; Smith, Richard J H RJH
Publication Date: 2018-10-04
Variant appearance in text: SLC26A4: 349C>T; Leu117Phe
The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.
Genome Medicine
Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM
Publication Date: 2016-07-26
Variant appearance in text: SLC26A4: 349C>T; L117F; rs145254330
Genomic Correlates of Immune-Cell Infiltrates in Colorectal Carcinoma.
Cell Reports
Giannakis, Marios M; Mu, Xinmeng Jasmine XJ; Shukla, Sachet A SA; Qian, Zhi Rong ZR; Cohen, Ofir O; Nishihara, Reiko R; Bahl, Samira S; Cao, Yin Y; Amin-Mansour, Ali A; Yamauchi, Mai M; Sukawa, Yasutaka Y; Stewart, Chip C; Rosenberg, Mara M; Mima, Kosuke K; Inamura, Kentaro K; Nosho, Katsuhiko K; Nowak, Jonathan A JA; Lawrence, Michael S MS; Giovannucci, Edward L EL; Chan, Andrew T AT; Ng, Kimmie K; Meyerhardt, Jeffrey A JA; Van Allen, Eliezer M EM; Getz, Gad G; Gabriel, Stacey B SB; Lander, Eric S ES; Wu, Catherine J CJ; Fuchs, Charles S CS; Ogino, Shuji S; Garraway, Levi A LA
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: SLC26A4: 349C>T; Leu117Phe