Literature DB >> 19780026

A contemporary review of AudioGene audioprofiling: a machine-based candidate gene prediction tool for autosomal dominant nonsyndromic hearing loss.

Michael S Hildebrand1, Adam P DeLuca, Kyle R Taylor, David P Hoskinson, In Ae Hur, Dylan Tack, Sarah J McMordie, Patrick L M Huygen, Thomas L Casavant, Richard J H Smith.   

Abstract

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Year:  2009        PMID： 19780026      PMCID： PMC2783729          DOI： 10.1002/lary.20664

Source DB:  PubMed          Journal:  Laryngoscope        ISSN： 0023-852X            Impact factor:   3.325


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  6 in total

1.  Audiometric shape and presbycusis.

Authors:  Kelly Demeester; Astrid van Wieringen; Jan-jaap Hendrickx; Vedat Topsakal; Erik Fransen; Lut van Laer; Guy Van Camp; Paul Van de Heyning
Journal:  Int J Audiol       Date:  2009-04       Impact factor: 2.117

Review 2.  Genetic epidemiology of hearing impairment.

Authors:  N E Morton
Journal:  Ann N Y Acad Sci       Date:  1991       Impact factor: 5.691

Review 3.  Forty-six genes causing nonsyndromic hearing impairment: which ones should be analyzed in DNA diagnostics?

Authors:  Nele Hilgert; Richard J H Smith; Guy Van Camp
Journal:  Mutat Res       Date:  2008-08-29       Impact factor: 2.433

4.  Mutations in the WFS1 gene that cause low-frequency sensorineural hearing loss are small non-inactivating mutations.

Authors:  Kim Cryns; Markus Pfister; Ronald J E Pennings; Steven J H Bom; Kris Flothmann; Goele Caethoven; Hannie Kremer; Isabelle Schatteman; Karen A Köln; Tímea Tóth; Susan Kupka; Nikolaus Blin; Peter Nürnberg; Holger Thiele; Paul H van de Heyning; William Reardon; Dafydd Stephens; Cor W R J Cremers; Richard J H Smith; Guy Van Camp
Journal:  Hum Genet       Date:  2002-04-09       Impact factor: 4.132

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

Authors:  Michael S Hildebrand; Dylan Tack; Adam Deluca; In Ae Hur; Jana M Van Rybroek; Sarah J McMordie; Ann Muilenburg; David P Hoskinson; Guy Van Camp; Myles L Pensak; Ian S Storper; Patrick L M Huygen; Thomas L Casavant; Richard J H Smith
Journal:  Am J Med Genet A       Date:  2009-02       Impact factor: 2.802

6.  Audioprofile-directed screening identifies novel mutations in KCNQ4 causing hearing loss at the DFNA2 locus.

Authors:  Michael S Hildebrand; Dylan Tack; Sarah J McMordie; Adam DeLuca; In Ae Hur; Carla Nishimura; Patrick Huygen; Thomas L Casavant; Richard J H Smith
Journal:  Genet Med       Date:  2008-11       Impact factor: 8.822
  6 in total
  19 in total

Review 1.  Genetics of hearing loss: where are we standing now?

Authors:  Hossein Mahboubi; Sami Dwabe; Matthew Fradkin; Virginia Kimonis; Hamid R Djalilian
Journal:  Eur Arch Otorhinolaryngol       Date:  2012-01-05       Impact factor: 2.503

2.  Feasibility of a bilateral 4000-6000 Hz notch as a phenotype for genetic association analysis.

Authors:  Susan L Phillips; Scott J Richter; Sandra L Teglas; Ishan S Bhatt; Robin C Morehouse; Elizabeth R Hauser; Vincent C Henrich
Journal:  Int J Audiol       Date:  2015-05-04       Impact factor: 2.117

3.  Towards an etiologic diagnosis: assessing the patient with hearing loss.

Authors:  J Jerry; John S Oghalai
Journal:  Adv Otorhinolaryngol       Date:  2011-02-24

4.  Using the phenome and genome to improve genetic diagnosis for deafness.

Authors:  Robert W Eppsteiner; A Eliot Shearer; Michael S Hildebrand; Kyle R Taylor; Adam P Deluca; Steve Scherer; Patrick Huygen; Todd E Scheetz; Terry A Braun; Thomas L Casavant; Richard J H Smith
Journal:  Otolaryngol Head Neck Surg       Date:  2012-07-11       Impact factor: 3.497

5.  Identification of a novel truncation mutation of EYA4 in moderate degree hearing loss by targeted exome sequencing.

Authors:  Hyun Seok Choi; Ah Reum Kim; Shin Hye Kim; Byung Yoon Choi
Journal:  Eur Arch Otorhinolaryngol       Date:  2015-05-27       Impact factor: 2.503

6.  DFNA8/12 caused by TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss.

Authors:  Michael S Hildebrand; Matías Morín; Nicole C Meyer; Fernando Mayo; Silvia Modamio-Hoybjor; Angeles Mencía; Leticia Olavarrieta; Carmelo Morales-Angulo; Carla J Nishimura; Heather Workman; Adam P DeLuca; Ignacio del Castillo; Kyle R Taylor; Bruce Tompkins; Corey W Goodman; Isabelle Schrauwen; Maarten Van Wesemael; K Lachlan; A Eliot Shearer; Terry A Braun; Patrick L M Huygen; Hannie Kremer; Guy Van Camp; Felipe Moreno; Thomas L Casavant; Richard J H Smith; Miguel A Moreno-Pelayo
Journal:  Hum Mutat       Date:  2011-06-07       Impact factor: 4.878

7.  AudioGene: predicting hearing loss genotypes from phenotypes to guide genetic screening.

Authors:  Kyle R Taylor; Adam P Deluca; A Eliot Shearer; Michael S Hildebrand; E Ann Black-Ziegelbein; V Nikhil Anand; Christina M Sloan; Robert W Eppsteiner; Todd E Scheetz; Patrick L M Huygen; Richard J H Smith; Terry A Braun; Thomas L Casavant
Journal:  Hum Mutat       Date:  2013-02-19       Impact factor: 4.878

8.  Gradual Symmetric Progression of DFNA34 Hearing Loss Caused by an NLRP3 Mutation and Cochlear Autoinflammation.

Authors:  Hiroshi Nakanishi; Yoshiyuki Kawashima; Kiyoto Kurima; Julie A Muskett; H Jeffrey Kim; Carmen C Brewer; Andrew J Griffith
Journal:  Otol Neurotol       Date:  2018-03       Impact factor: 2.311

9.  Comprehensive genetic testing with ethnic-specific filtering by allele frequency in a Japanese hearing-loss population.

Authors:  H Moteki; H Azaiez; K T Booth; A E Shearer; C M Sloan; D L Kolbe; S Nishio; M Hattori; S Usami; R J H Smith
Journal:  Clin Genet       Date:  2015-10-06       Impact factor: 4.438

10.  Computational Audiology: New Approaches to Advance Hearing Health Care in the Digital Age.

Authors:  Jan-Willem A Wasmann; Cris P Lanting; Wendy J Huinck; Emmanuel A M Mylanus; Jeroen W M van der Laak; Paul J Govaerts; De Wet Swanepoel; David R Moore; Dennis L Barbour
Journal:  Ear Hear       Date:  2021 Nov-Dec 01       Impact factor: 3.570
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