A Contemporary Review of AudioGene audioprofiling: A machine-based candidate gene prediction tool for autosomal dominant nonsyndromic hearing loss

Autor: Kyle R. Taylor, Patrick L. M. Huygen, In Ae Hur, Michael S. Hildebrand, David P. Hoskinson, Sarah J. McMordie, Dylan Tack, Thomas L. Casavant, Richard J.H. Smith, Adam P. DeLuca

Publikováno v: The Laryngoscope. 119:2211-2215

AudioGene v3.0 predicts the genotypic cause of hearing loss from audiometric data. We hope this resource will be valuable to clinicians in the care of families segregating ADNSHL and to research scientists who are focusing on the identification of no

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::69d72e2b4b39eb676acee50a8e060028
https://doi.org/10.1002/lary.20664

A comprehensive nonredundant expressed sequence tag collection for the developing Rattus norvegicus heart

Autor: Todd E. Scheetz, Chad A. Roberts, Tamara A. Kucaba, Jim J.-C. Lin, Thomas L. Casavant, Shereen Chang, Rebecca S. Reiter, M. Bento Soares, Jennifer J.S. Laffin, Mari E. Eyestone, Hakeem Abdulkawy, Dylan Tack, Bartley Brown, Maria de Fatima Bonaldo, Val C. Sheffield

Publikováno v: Physiological Genomics. 17:245-252

Congenital heart defects affect ∼1,000,000 people in the United States, with 40,000 new births contributing to that number every year. A large percentage of these defects can be attributed to septal defects. We assembled a nonredundant collection o

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3fc36368b0ca9173950e86c19e2befcc
https://doi.org/10.1152/physiolgenomics.00186.2003

Mutation in the **COCH** gene is associated with superior semicircular canal dehiscence

Autor: David P. Hoskinson, Richard J.H. Smith, Ian S. Storper, Patrick L. M. Huygen, Michael S. Hildebrand, Guy Van Camp, Sarah J. McMordie, Myles L. Pensak, Dylan Tack, Thomas L. Casavant, Jana M. Van Rybroek, Ann Muilenburg, In Ae Hur, Adam P. DeLuca

Publikováno v: American journal of medical genetics : part A

To the Editor: The prevalence of significant hearing loss (≥ 25 db HL) is 15-20% in young adults and rises to approximately 50% in individuals 80 years of age or older [Morton 1991]. Autosomal dominant nonsyndromic hearing loss (ADSNHL) accounts fo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::78f8490cc44ab9d89810e92ddc116696
https://hdl.handle.net/10067/763270151162165141

High-Throughput Gene Discovery in the Rat

Autor: Sara Holte, Justin Coco, Clayton L. Birkett, Kelly Schaefer, Christina H. Smith, Susan A. Baumes, Robert H. Brown, Nishank Trivedi, Chris Estes, Brian O'Leary, Chad A. Roberts, Jim Conklin, Micca Donohue, Rebecca S. Reiter, M. Bento Soares, A. Jason Grundstad, Keith Crouch, Chris Moressi, Mark Lebeck, Tom C. Freeman, Kevin Pedretti, Jennifer J.S. Laffin, Mindee Perdue, Jack M. Gardiner, Ling Qui, Thomas L. Casavant, Rikki Kreger, Shereen Chang, Michael F. Smith, Allen J. Gavin, Brad Johnson, Catherine Keppel, Natalie L. Robinson, Kurtis Trout, Katrina Fishler, Mari E. Eyestone, Dylan Tack, Brian Berger, Rudy Marcelino, Maria de Fatima Bonaldo, Val C. Sheffield, Bridgette Rhoads, Todd E. Scheetz, Tamara A. Kucaba, Greg Doonan, Jim J.-C. Lin, Vladan Miljkovich, Jared M. Bischof, Ivana Sunjevaric, Joshua Rehmann, Barry Gackle, Lankai Guo, Ning Wu, Brian Thomas Mokrzycki

Publikováno v: Scheetz, T E, Laffin, J J, Berger, B, Holte, S, Baumes, S A, Brown, R, Chang, S, Coco, J, Conklin, J, Crouch, K, Donohue, M, Doonan, G, Estes, C, Eyestone, M, Fishler, K, Gardiner, J, Guo, L, Johnson, B, Keppel, C, Kreger, R, Lebeck, M, Marcelino, R, Miljkovich, V, Perdue, M, Qui, L, Rehmann, J, Reiter, R S, Rhoads, B, Schaefer, K, Smith, C, Sunjevaric, I, Trout, K, Wu, N, Birkett, C L, Bischof, J, Gackle, B, Gavin, A, Grundstad, A J, Mokrzycki, B, Moressi, C, O'Leary, B, Pedretti, K, Roberts, C, Robinson, N L, Smith, M, Tack, D, Trivedi, N, Kucaba, T, Freeman, T, Lin, J J-C, Bonaldo, M F, Casavant, T L, Sheffield, V C & Soares, M B 2004, ' High-throughput gene discovery in the rat ', Genome Research, vol. 14, no. 4, pp. 733-41 . https://doi.org/10.1101/gr.1414204

Genomic resources have proven to be very useful in both human and mouse genetic studies. For example, the human UniGene set (Schuler 1997) and GeneMap `99 (Deloukas et al. 1998) at National Center for Biotechonology Information (NCBI) were invaluable

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2f9546459c5654305e4beab7d49cc812
https://europepmc.org/articles/PMC383320/