Literature DB >> 22785243

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

Robert W Eppsteiner1, 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.   

Abstract

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Year:  2012        PMID： 22785243      PMCID： PMC3694170          DOI： 10.1177/0194599812454271

Source DB:  PubMed          Journal:  Otolaryngol Head Neck Surg        ISSN： 0194-5998            Impact factor:   3.497


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  5 in total

1.  Comprehensive genetic testing for hereditary hearing loss using massively parallel sequencing.

Authors:  A Eliot Shearer; Adam P DeLuca; Michael S Hildebrand; Kyle R Taylor; José Gurrola; Steve Scherer; Todd E Scheetz; Richard J H Smith
Journal:  Proc Natl Acad Sci U S A       Date:  2010-11-15       Impact factor: 11.205

Review 2.  Deafness in the genomics era.

Authors:  A Eliot Shearer; Michael S Hildebrand; Christina M Sloan; Richard J H Smith
Journal:  Hear Res       Date:  2011-10-08       Impact factor: 3.208

Review 3.  A contemporary review of AudioGene audioprofiling: a machine-based candidate gene prediction tool for autosomal dominant nonsyndromic hearing loss.

Authors:  Michael S Hildebrand; 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
Journal:  Laryngoscope       Date:  2009-11       Impact factor: 3.325

4.  Identification and molecular modelling of a mutation in the motor head domain of myosin VIIA in a family with autosomal dominant hearing impairment (DFNA11).

Authors:  Mirjam W J Luijendijk; Erwin Van Wijk; Anne M L C Bischoff; Elmar Krieger; Patrick L M Huygen; Ronald J E Pennings; Han G Brunner; Cor W R J Cremers; Frans P M Cremers; Hannie Kremer
Journal:  Hum Genet       Date:  2004-06-02       Impact factor: 4.132

5.  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
  5 in total
  4 in total

Review 1.  [Personalized medicine in otology. The role of genetic diagnostics in patients with hearing impairment].

Authors:  N Friese; K Braun; M Müller; A Tropitzsch
Journal:  HNO       Date:  2015-06       Impact factor: 1.284

2.  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

3.  Computational analysis based on audioprofiles: A new possibility for patient stratification in office-based otology.

Authors:  Oren Weininger; Athanasia Warnecke; Anke Lesinski-Schiedat; Thomas Lenarz; Stefan Stolle
Journal:  Audiol Res       Date:  2019-11-05

4.  Biobanking across the phenome - at the center of chronic disease research.

Authors:  Medea Imboden; Nicole M Probst-Hensch
Journal:  BMC Public Health       Date:  2013-11-25       Impact factor: 3.295
  4 in total

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