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

Laryngoscope

Volumn 119, Issue 11, 2009, Pages 2211-2215

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

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Audiogram; Audioprofiling; Autosomal dominant loci; Autosomal dominant nonsyndromic hearing loss

Indexed keywords

AUDIOGENE; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL DOMINANT NONSYNDROMIC HEARING LOSS; COMPUTER PROGRAM; DNA FINGERPRINTING; GENE; GENE MUTATION; HEARING LOSS; HUMAN; INTERNET; PREDICTION; PRIORITY JOURNAL; REVIEW; TRAINING; VALIDATION STUDY;

GENETIC TESTING; HEARING LOSS; HUMANS; MUTATION; SOFTWARE;

EID: 73449093546     PISSN: 0023852X     EISSN: None     Source Type: Journal    
DOI: 10.1002/lary.20664     Document Type: Review

References (8)

1. Morton NE. Genetic epidemiology of hearing impairment. Ann N Y Acad Sci 1991;630:16-31.
2. Van Camp G, Smith RJ. Hereditary Hearing Loss Homepage. 2007. Available at: http://webh01.ua.ac.be/hhh/. Accessed June 1, 2009.
3. Huygen P, Pauw R, Cremers C. Audiometric profiles associated with genetic nonsyndromal hearing impairment: a review and phenotype analysis. In: Martini M, Stephens D, Read AP, eds. Genes, Hearing and Deafness: From Molecular Biology to Clinical Practice. London, UK: Informa Healthcare; 2007:185-204.
4. Cryns K, Pfister M, Pennings RJ, et al. Mutations in the WFS1 gene that cause low-frequency sensorineural hearing loss are small non-inactivating mutations. Hum Genet 2002;110:389-394.
5. Hildebrand MS, Tack D, McMordie SJ, et al. Audioprofile-directed screening identifies novel mutations in KCNQ4 causing hearing loss at the DFNA2 locus. Genet Med 2008;10:797-804.
6. Hildebrand MS, Tack D, Deluca A, et al. Mutation in the COCH gene is associated with superior semi-circular canal dehiscence. Am J Med Genet A 2009;149A:280-285.
7. Hilgert N, Smith RJ, Van Camp G. Forty-six genes causing nonsyndromic hearing impairment: which ones should be analyzed in DNA diagnostics? Mutat Res 2009;681:189-196.
8. Demeester K, van Wieringen A, Hendrickx JJ, et al. Audiometric shape and presbycusis. Int J Audiol 2009;48:222-232.