Literature DB >> 26530094

Audioprofile Surfaces: The 21st Century Audiogram.

Kyle R Taylor1, Kevin T Booth2, Hela Azaiez2, Christina M Sloan3, Diana L Kolbe2, Emily N Glanz1, A Eliot Shearer2, Adam P DeLuca4, V Nikhil Anand5, Michael S Hildebrand2, Allen C Simpson2, Robert W Eppsteiner2, Todd E Scheetz6, Terry A Braun1, Patrick L M Huygen7, Richard J H Smith8, Thomas L Casavant6.   

Abstract

OBJECTIVE: To present audiometric data in 3 dimensions by considering age as an addition dimension.
METHODS: Audioprofile surfaces (APSs) were fitted to a set of audiograms by plotting each measurement of an audiogram as an independent point in 3 dimensions with the x, y, and z axes representing frequency, hearing loss in dB, and age, respectively.
RESULTS: Using the Java-based APS viewer as a standalone application, APSs were pre-computed for 34 loci. By selecting APSs for the appropriate genetic locus, a clinician can compare this APS-generated average surface to a specific patient's audiogram.
CONCLUSION: Audioprofile surfaces provide an easily interpreted visual representation of a person's hearing acuity relative to others with the same genetic cause of hearing loss. Audioprofile surfaces will support the generation and testing of sophisticated hypotheses to further refine our understanding of the biology of hearing.
© The Author(s) 2015.

Entities:  

Keywords:  audiograms; audiometric data; audioprofile surfaces; hearing loss

Mesh:

Year:  2015        PMID: 26530094      PMCID: PMC4821702          DOI: 10.1177/0003489415614863

Source DB:  PubMed          Journal:  Ann Otol Rhinol Laryngol        ISSN: 0003-4894            Impact factor:   1.547


  4 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

2.  Autosomal dominant low-frequency hearing impairment (DFNA6/14): a clinical and genetic family study.

Authors:  Steven J H Bom; Guy Van Camp; Kim Cryns; Ronald J C Admiraal; Patrick L M Huygen; Cor W R J Cremers
Journal:  Otol Neurotol       Date:  2002-11       Impact factor: 2.311

3.  A novel KCNQ4 one-base deletion in a large pedigree with hearing loss: implication for the genotype-phenotype correlation.

Authors:  Fumiaki Kamada; Shigeo Kure; Takayuki Kudo; Yoichi Suzuki; Takeshi Oshima; Akiko Ichinohe; Kanako Kojima; Tetsuya Niihori; Junko Kanno; Yoko Narumi; Ayumi Narisawa; Kumi Kato; Yoko Aoki; Katsuhisa Ikeda; Toshimitsu Kobayashi; Yoichi Matsubara
Journal:  J Hum Genet       Date:  2006-04-05       Impact factor: 3.172

4.  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

  4 in total
  5 in total

1.  Genome-first approach to rare EYA4 variants and cardio-auditory phenotypes in adults.

Authors:  Shadi Ahmadmehrabi; Binglan Li; Joseph Park; Batsal Devkota; Marijana Vujkovic; Yi-An Ko; David Van Wagoner; W H Wilson Tang; Ian Krantz; Marylyn Ritchie; Jason Brant; Michael J Ruckenstein; Douglas J Epstein; Daniel J Rader
Journal:  Hum Genet       Date:  2021-03-21       Impact factor: 4.132

2.  AudioGene: refining the natural history of KCNQ4, GSDME, WFS1, and COCH-associated hearing loss.

Authors:  Ryan K Thorpe; W Daniel Walls; Rae Corrigan; Amanda Schaefer; Kai Wang; Patrick Huygen; Thomas L Casavant; Richard J H Smith
Journal:  Hum Genet       Date:  2022-01-17       Impact factor: 5.881

3.  Exome sequencing utility in defining the genetic landscape of hearing loss and novel-gene discovery in Iran.

Authors:  Marzieh Mohseni; Mojgan Babanejad; Kevin T Booth; Payman Jamali; Khadijeh Jalalvand; Behzad Davarnia; Fariba Ardalani; Atefeh Khoshaeen; Sanaz Arzhangi; Fatemeh Ghodratpour; Maryam Beheshtian; Faezeh Jahanshad; Hasan Otukesh; Fatemeh Bahrami; Seyed Morteza Seifati; Niloofar Bazazzadegan; Farkhonde Habibi; Hanieh Behravan; Sepide Mirzaei; Fatemeh Keshavarzi; Nooshin Nikzat; Zohreh Mehrjoo; Holger Thiele; Michael Nothnagel; Hela Azaiez; Richard J Smith; Kimia Kahrizi; Hossein Najmabadi
Journal:  Clin Genet       Date:  2021-03-24       Impact factor: 4.438

4.  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

5.  DFNA5 (GSDME) c.991-15_991-13delTTC: Founder Mutation or Mutational Hotspot?

Authors:  Kevin T Booth; Hela Azaiez; Richard J H Smith
Journal:  Int J Mol Sci       Date:  2020-05-31       Impact factor: 5.923

  5 in total

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