Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome.

Autor: Tollefson MR; Roy J. Carver Department of Biomedical Engineering, University of Iowa, Iowa City, IA, 52242, USA.; Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology, University of Iowa Hospitals and Clinics, Iowa City, IA, 52242, USA., Gogal RA; Roy J. Carver Department of Biomedical Engineering, University of Iowa, Iowa City, IA, 52242, USA., Weaver AM; Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology, University of Iowa Hospitals and Clinics, Iowa City, IA, 52242, USA., Schaefer AM; Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology, University of Iowa Hospitals and Clinics, Iowa City, IA, 52242, USA., Marini RJ; Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology, University of Iowa Hospitals and Clinics, Iowa City, IA, 52242, USA., Azaiez H; Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology, University of Iowa Hospitals and Clinics, Iowa City, IA, 52242, USA., Kolbe DL; Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology, University of Iowa Hospitals and Clinics, Iowa City, IA, 52242, USA., Wang D; Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology, University of Iowa Hospitals and Clinics, Iowa City, IA, 52242, USA., Weaver AE; Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology, University of Iowa Hospitals and Clinics, Iowa City, IA, 52242, USA., Casavant TL; Roy J. Carver Department of Biomedical Engineering, University of Iowa, Iowa City, IA, 52242, USA., Braun TA; Roy J. Carver Department of Biomedical Engineering, University of Iowa, Iowa City, IA, 52242, USA., Smith RJH; Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology, University of Iowa Hospitals and Clinics, Iowa City, IA, 52242, USA. richard-smith@uiowa.edu., Schnieders MJ; Roy J. Carver Department of Biomedical Engineering, University of Iowa, Iowa City, IA, 52242, USA. michael-schnieders@uiowa.edu.; Department of Biochemistry and Molecular Biology, University of Iowa, Iowa City, IA, 52242, USA. michael-schnieders@uiowa.edu.

Publikováno v: Human genetics [Hum Genet] 2023 Jun; Vol. 142 (6), pp. 819-834. Date of Electronic Publication: 2023 Apr 22.

A comparative analysis of genetic hearing loss phenotypes in European/American and Japanese populations.

Autor: Walls WD; Molecular Otolaryngology and Renal Research Labs, Department of Otolaryngology-Head and Neck Surgery, University of Iowa Carver College of Medicine, Iowa City, IA, 52242, USA., Moteki H; Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Nagano, 390-8621, Japan., Thomas TR; Molecular Otolaryngology and Renal Research Labs, Department of Otolaryngology-Head and Neck Surgery, University of Iowa Carver College of Medicine, Iowa City, IA, 52242, USA., Nishio SY; Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Nagano, 390-8621, Japan., Yoshimura H; Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Nagano, 390-8621, Japan., Iwasa Y; Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Nagano, 390-8621, Japan., Frees KL; Molecular Otolaryngology and Renal Research Labs, Department of Otolaryngology-Head and Neck Surgery, University of Iowa Carver College of Medicine, Iowa City, IA, 52242, USA., Nishimura CJ; Molecular Otolaryngology and Renal Research Labs, Department of Otolaryngology-Head and Neck Surgery, University of Iowa Carver College of Medicine, Iowa City, IA, 52242, USA., Azaiez H; Molecular Otolaryngology and 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 and Renal Research Labs, Department of Otolaryngology-Head and Neck Surgery, University of Iowa Carver College of Medicine, Iowa City, IA, 52242, USA.; Department of Neurobiology, Harvard Medical School, Boston, MA, 02215, USA., Marini RJ; Molecular Otolaryngology and Renal Research Labs, Department of Otolaryngology-Head and Neck Surgery, University of Iowa Carver College of Medicine, Iowa City, IA, 52242, USA., Kolbe DL; Molecular Otolaryngology and Renal Research Labs, Department of Otolaryngology-Head and Neck Surgery, University of Iowa Carver College of Medicine, Iowa City, IA, 52242, USA., Weaver AM; Molecular Otolaryngology and Renal Research Labs, Department of Otolaryngology-Head and Neck Surgery, University of Iowa Carver College of Medicine, Iowa City, IA, 52242, USA., Schaefer AM; Molecular Otolaryngology and Renal Research Labs, Department of Otolaryngology-Head and Neck Surgery, University of Iowa Carver College of Medicine, Iowa City, IA, 52242, USA., Wang K; Department of Biostatistics, University of Iowa, Iowa City, IA, 52242, USA., Braun TA; Department of Biomedical Engineering, University of Iowa, Iowa City, IA, 52242, USA., Usami SI; Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Nagano, 390-8621, Japan., Barr-Gillespie PG; Vollum Institute, Oregon Health & Science University, Portland, OR, 97239, USA., Richardson GP; Sussex Neuroscience, School of Life Sciences, University of Sussex, Brighton, UK., Smith RJ; Molecular Otolaryngology and Renal Research Labs, Department of Otolaryngology-Head and Neck Surgery, University of Iowa Carver College of Medicine, Iowa City, IA, 52242, USA. richard-smith@uiowa.edu.; Interdepartmental Ph.D. Program in Genetics, University of Iowa, Iowa City, IA, 52242, USA. richard-smith@uiowa.edu.; Department of Molecular Physiology and Biophysics, University of Iowa Carver College of Medicine, Iowa City, IA, 52242, USA. richard-smith@uiowa.edu., 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 Electrical and Computer Engineering, University of Iowa, Iowa City, IA, 52242, USA.

Publikováno v: Human genetics [Hum Genet] 2020 Oct; Vol. 139 (10), pp. 1315-1323. Date of Electronic Publication: 2020 May 07.

Genomic Landscape and Mutational Signatures of Deafness-Associated Genes.

Autor: Azaiez H; Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology-Head and Neck Surgery, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA., Booth KT; Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology-Head and Neck Surgery, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA; The Interdisciplinary Graduate Program in Molecular Medicine, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA., Ephraim SS; Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology-Head and Neck Surgery, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA., Crone B; Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology-Head and Neck Surgery, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA., Black-Ziegelbein EA; Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology-Head and Neck Surgery, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA., Marini RJ; Center for Bioinformatics and Computational Biology, Departments of Electrical and Computer Engineering and Biomedical Engineering, University of Iowa College of Engineering, Iowa City, IA 52242, USA., Shearer AE; Department of Otolaryngology-Head and Neck Surgery, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA., Sloan-Heggen CM; Medical Scientist Training Program, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA., Kolbe D; Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology-Head and Neck Surgery, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA., Casavant T; Center for Bioinformatics and Computational Biology, Departments of Electrical and Computer Engineering and Biomedical Engineering, University of Iowa College of Engineering, Iowa City, IA 52242, USA., Schnieders MJ; Department of Biochemistry, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA., Nishimura C; Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology-Head and Neck Surgery, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA., Braun T; Center for Bioinformatics and Computational Biology, Departments of Electrical and Computer Engineering and Biomedical Engineering, University of Iowa College of Engineering, Iowa City, IA 52242, USA., Smith RJH; Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology-Head and Neck Surgery, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA; The Interdisciplinary Graduate Program in Molecular Medicine, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA; Department of Otolaryngology-Head and Neck Surgery, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA; Medical Scientist Training Program, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA; Iowa Institute of Human Genetics, University of Iowa, Iowa City, IA 52242, USA. Electronic address: richard-smith@uiowa.edu.

Publikováno v: American journal of human genetics [Am J Hum Genet] 2018 Oct 04; Vol. 103 (4), pp. 484-497. Date of Electronic Publication: 2018 Sep 20.