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Utilizing ethnic-specific differences in minor allele frequency to recategorize reported pathogenic deafness variants.
Shearer, A Eliot; Eppsteiner, Robert W; Booth, Kevin T; Ephraim, Sean S; Gurrola, José; Simpson, Allen; Black-Ziegelbein, E Ann; Joshi, Swati; Ravi, Harini; Giuffre, Angelica C; Happe, Scott; Hildebrand, Michael S; Azaiez, Hela; Bayazit, Yildirim A; Erdal, Mehmet Emin; Lopez-Escamez, Jose A; Gazquez, Irene; Tamayo, Marta L; Gelvez, Nancy Y; Leal, Greizy Lopez; Jalas, Chaim; Ekstein, Josef; Yang, Tao; Usami, Shin-ichi; Kahrizi, Kimia; Bazazzadegan, Niloofar; Najmabadi, Hossein; Scheetz, Todd E; Braun, Terry A; Casavant, Thomas L; LeProust, Emily M; Smith, Richard J H.
Affiliation
  • Shearer AE; Molecular Otolaryngology & Renal Research Labs, Department of Otolaryngology-Head and Neck Surgery, University of Iowa Carver College of Medicine, Iowa City, IA 52242, USA.
  • Eppsteiner RW; Molecular Otolaryngology & Renal Research Labs, Department of Otolaryngology-Head and Neck Surgery, University of Iowa Carver College of Medicine, Iowa City, IA 52242, USA.
  • Booth KT; Molecular Otolaryngology & Renal Research Labs, Department of Otolaryngology-Head and Neck Surgery, University of Iowa Carver College of Medicine, Iowa City, IA 52242, USA.
  • Ephraim SS; Department of Biomedical Engineering, University of Iowa, Iowa City, IA 52242, USA.
  • Gurrola J; Molecular Otolaryngology & Renal Research Labs, Department of Otolaryngology-Head and Neck Surgery, University of Iowa Carver College of Medicine, Iowa City, IA 52242, USA.
  • Simpson A; Molecular Otolaryngology & Renal Research Labs, Department of Otolaryngology-Head and Neck Surgery, University of Iowa Carver College of Medicine, Iowa City, IA 52242, USA.
  • Black-Ziegelbein EA; Molecular Otolaryngology & Renal Research Labs, Department of Otolaryngology-Head and Neck Surgery, University of Iowa Carver College of Medicine, Iowa City, IA 52242, USA.
  • Joshi S; Agilent Technologies, Cedar Creek, TX 78612, USA.
  • Ravi H; Agilent Technologies, Cedar Creek, TX 78612, USA.
  • Giuffre AC; Agilent Technologies, Cedar Creek, TX 78612, USA.
  • Happe S; Agilent Technologies, Cedar Creek, TX 78612, USA.
  • Hildebrand MS; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Heidelberg, VIC 3084, Australia.
  • Azaiez H; Molecular Otolaryngology & Renal Research Labs, Department of Otolaryngology-Head and Neck Surgery, University of Iowa Carver College of Medicine, Iowa City, IA 52242, USA.
  • Bayazit YA; Department of Otolaryngology, Faculty of Medicine, Medipol University, Istanbul 34083, Turkey.
  • Erdal ME; Department of Medical Biology and Genetics, University of Mersin, Mersin 33160, Turkey.
  • Lopez-Escamez JA; Otology and Neurotology Group CTS495, Center for Genomic and Oncological Research (GENyO), Granada 18012, Spain.
  • Gazquez I; Otology and Neurotology Group CTS495, Center for Genomic and Oncological Research (GENyO), Granada 18012, Spain.
  • Tamayo ML; Instituto de Genética Humana, Pontificia Universidad Javeriana, Bogotá 11001000, Colombia.
  • Gelvez NY; Instituto de Genética Humana, Pontificia Universidad Javeriana, Bogotá 11001000, Colombia.
  • Leal GL; Instituto de Genética Humana, Pontificia Universidad Javeriana, Bogotá 11001000, Colombia.
  • Jalas C; Bonei Olam, Center for Rare Jewish Genetic Disorders, Brooklyn, NY 11204, USA.
  • Ekstein J; Dor Yeshorim, The Committee for Prevention of Jewish Genetic Diseases, Brooklyn, NY 11211, USA.
  • Yang T; Department of Otorhinolaryngology-Head and Neck Surgery, Xinhua Hospital, and the Ear Institute, Shanghai Jiaotong University School of Medicine, Shanghai 20025, China.
  • Usami S; Department of Otorhinolaryngology, School of Medicine, Shinshu University, Matsumoto, Nagano 390-8621, Japan.
  • Kahrizi K; Genetics Research Centre, University of Social Welfare and Rehabilitation Sciences, Tehran 1985713834, Iran.
  • Bazazzadegan N; Genetics Research Centre, University of Social Welfare and Rehabilitation Sciences, Tehran 1985713834, Iran.
  • Najmabadi H; Genetics Research Centre, University of Social Welfare and Rehabilitation Sciences, Tehran 1985713834, Iran.
  • Scheetz TE; Department of Biomedical Engineering, University of Iowa, Iowa City, IA 52242, USA; Center for Bioinformatics and Computational Biology, University of Iowa, Iowa City, IA 52242, USA; Department of Ophthalmology and Visual Sciences, University of Iowa, Iowa City, IA 52242, USA.
  • Braun TA; Department of Biomedical Engineering, University of Iowa, Iowa City, IA 52242, USA; Center for Bioinformatics and Computational Biology, University of Iowa, Iowa City, IA 52242, USA; Department of Ophthalmology and Visual Sciences, University of Iowa, Iowa City, IA 52242, USA.
  • Casavant TL; Department of Biomedical Engineering, University of Iowa, Iowa City, IA 52242, USA; Center for Bioinformatics and Computational Biology, University of Iowa, Iowa City, IA 52242, USA; Department of Ophthalmology and Visual Sciences, University of Iowa, Iowa City, IA 52242, USA.
  • LeProust EM; Agilent Technologies, Cedar Creek, TX 78612, USA.
  • Smith RJ; Molecular Otolaryngology & Renal Research Labs, Department of Otolaryngology-Head and Neck Surgery, University of Iowa Carver College of Medicine, Iowa City, IA 52242, USA; Interdepartmental PhD Program in Genetics, University of Iowa, Iowa City, IA 52242, USA; Department of Molecular Physiology
Am J Hum Genet ; 95(4): 445-53, 2014 Oct 02.
Article in En | MEDLINE | ID: mdl-25262649
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Genetic Variation / Ethnicity / Evolution, Molecular / Exome / Hearing Loss Type of study: Observational_studies / Risk_factors_studies Limits: Humans Language: En Journal: Am J Hum Genet Year: 2014 Type: Article Affiliation country: United States
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Genetic Variation / Ethnicity / Evolution, Molecular / Exome / Hearing Loss Type of study: Observational_studies / Risk_factors_studies Limits: Humans Language: En Journal: Am J Hum Genet Year: 2014 Type: Article Affiliation country: United States