Using the phenome and genome to improve genetic diagnosis for deafness

Otolaryngology - Head and Neck Surgery (United States)

Volumn 147, Issue 5, 2012, Pages 975-977

  Eppsteiner, Robert W ^a   Shearer, A Eliot ^a,b   Hildebrand, Michael S ^a   Taylor, Kyle R ^c,d   DeLuca, Adam P ^c,d   Scherer, Steve ^e   Huygen, Patrick ^f   Scheetz, Todd E ^a,c,d   Braun, Terry A ^c,d   Casavant, Thomas L ^c,d   Smith, Richard J H ^a,b,d  

^a UNIVERSITY OF IOWA HOSPITALS AND CLINICS   (United States)

^b UNIVERSITY OF IOWA   (United States)

^c University of Iowa   (United States)

^d UNIVERSITY OF IOWA   (United States)

^e BAYLOR COLLEGE OF MEDICINE   (United States)

^f RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

AudioGene; Genetic testing; Hearing loss; Massively parallel sequencing; OtoSCOPE; Phenome

Indexed keywords

DNA;

ADULT; AGED; ARTICLE; AUDIOMETRY; BIOINFORMATICS; CASE REPORT; DNA EXTRACTION; DOMINANT INHERITANCE; GENE MUTATION; GENETIC ANALYSIS; GENETIC DIAGNOSIS; GENETIC PARAMETERS; GENETIC SCREENING; GENOME; GENOTYPE; HEARING IMPAIRMENT; HUMAN; MALE; PHENOME; PHENOTYPE; FEMALE; GENETICS; HUMAN GENOME; MIDDLE AGED;

AGED; DEAFNESS; FEMALE; GENOME, HUMAN; HUMANS; MALE; MIDDLE AGED; PHENOTYPE;

EID: 84872023730     PISSN: 01945998     EISSN: 10976817     Source Type: Journal    
DOI: 10.1177/0194599812454271     Document Type: Article

References (5)

1. Shearer AE, Hildebrand MS, Sloan CM, Smith RJ. Deafness in the genomics era. Hear Res. 2011;282:1-9.
2. Hildebrand MS, Tack D, McMordie SJ, et al. Audioprofiledirected screening identifies novel mutations in KCNQ4 causing hearing loss at the DFNA2 locus. Genet Med. 2008;10:797-804.
3. Hildebrand MS, DeLuca AP, Taylor KR, et al. A contemporary review of AudioGene audioprofiling: A machine-based candidate gene prediction tool for autosomal dominant nonsyndromic hearing loss. Laryngoscope. 2009;119:2211-2215.
4. Shearer AE, DeLuca AP, Hildebrand MS, et al. Comprehensive genetic testing for hereditary hearing loss using massively parallel sequencing. Proc Natl Acad Sci U S A. 2010;107:21104-21109.
5. Luijendijk MW, Van Wijk E, Bischoff AM, et al. Identification and molecular modelling of a mutation in the motor head domain of myosin VIIA in a family with autosomal dominant hearing impairment (DFNA11). Hum Genet. 2004;115:149-156.