Literature DB >> 22016077

Deafness in the genomics era.

A Eliot Shearer1, Michael S Hildebrand, Christina M Sloan, Richard J H Smith.   

Abstract

Our understanding of hereditary hearing loss has greatly improved since the discovery of the first human deafness gene. These discoveries have only accelerated due to the great strides in DNA sequencing technology since the completion of the human genome project. Here, we review the immense impact that these developments have had in both deafness research and clinical arenas. We review commonly used genomic technologies as well as the application of these technologies to the genetic diagnosis of hereditary hearing loss and to the discovery of novel deafness genes.
Copyright © 2011 Elsevier B.V. All rights reserved.

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Year:  2011        PMID: 22016077      PMCID: PMC3230685          DOI: 10.1016/j.heares.2011.10.001

Source DB:  PubMed          Journal:  Hear Res        ISSN: 0378-5955            Impact factor:   3.208


  46 in total

1.  Genome sequencing in microfabricated high-density picolitre reactors.

Authors:  Marcel Margulies; Michael Egholm; William E Altman; Said Attiya; Joel S Bader; Lisa A Bemben; Jan Berka; Michael S Braverman; Yi-Ju Chen; Zhoutao Chen; Scott B Dewell; Lei Du; Joseph M Fierro; Xavier V Gomes; Brian C Godwin; Wen He; Scott Helgesen; Chun Heen Ho; Chun He Ho; Gerard P Irzyk; Szilveszter C Jando; Maria L I Alenquer; Thomas P Jarvie; Kshama B Jirage; Jong-Bum Kim; James R Knight; Janna R Lanza; John H Leamon; Steven M Lefkowitz; Ming Lei; Jing Li; Kenton L Lohman; Hong Lu; Vinod B Makhijani; Keith E McDade; Michael P McKenna; Eugene W Myers; Elizabeth Nickerson; John R Nobile; Ramona Plant; Bernard P Puc; Michael T Ronan; George T Roth; Gary J Sarkis; Jan Fredrik Simons; John W Simpson; Maithreyan Srinivasan; Karrie R Tartaro; Alexander Tomasz; Kari A Vogt; Greg A Volkmer; Shally H Wang; Yong Wang; Michael P Weiner; Pengguang Yu; Richard F Begley; Jonathan M Rothberg
Journal:  Nature       Date:  2005-07-31       Impact factor: 49.962

Review 2.  Newborn hearing screening--a silent revolution.

Authors:  Cynthia C Morton; Walter E Nance
Journal:  N Engl J Med       Date:  2006-05-18       Impact factor: 91.245

3.  Four-color DNA sequencing by synthesis using cleavable fluorescent nucleotide reversible terminators.

Authors:  Jingyue Ju; Dae Hyun Kim; Lanrong Bi; Qinglin Meng; Xiaopeng Bai; Zengmin Li; Xiaoxu Li; Mong Sano Marma; Shundi Shi; Jian Wu; John R Edwards; Aireen Romu; Nicholas J Turro
Journal:  Proc Natl Acad Sci U S A       Date:  2006-12-14       Impact factor: 11.205

Review 4.  The use of genetic testing in the evaluation of hearing impairment in a child.

Authors:  Nathaniel H Robin; Sandra K Prucka; Audie L Woolley; Richard Jh Smith
Journal:  Curr Opin Pediatr       Date:  2005-12       Impact factor: 2.856

5.  Simultaneous multigene mutation detection in patients with sensorineural hearing loss through a novel diagnostic microarray: a new approach for newborn screening follow-up.

Authors:  Phyllis Gardner; Eneli Oitmaa; Anna Messner; Lies Hoefsloot; Andres Metspalu; Iris Schrijver
Journal:  Pediatrics       Date:  2006-09       Impact factor: 7.124

6.  Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome.

Authors:  Sarah B Pierce; Karen M Chisholm; Eric D Lynch; Ming K Lee; Tom Walsh; John M Opitz; Weiqing Li; Rachel E Klevit; Mary-Claire King
Journal:  Proc Natl Acad Sci U S A       Date:  2011-04-04       Impact factor: 11.205

7.  Next-generation sequencing identifies mutations of SMPX, which encodes the small muscle protein, X-linked, as a cause of progressive hearing impairment.

Authors:  Margit Schraders; Stefan A Haas; Nicole J D Weegerink; Jaap Oostrik; Hao Hu; Lies H Hoefsloot; Sriram Kannan; Patrick L M Huygen; Ronald J E Pennings; Ronald J C Admiraal; Vera M Kalscheuer; Henricus P M Kunst; Hannie Kremer
Journal:  Am J Hum Genet       Date:  2011-05-05       Impact factor: 11.025

Review 8.  Sensorineural hearing loss in children.

Authors:  Richard J H Smith; James F Bale; Karl R White
Journal:  Lancet       Date:  2005 Mar 5-11       Impact factor: 79.321

9.  Linkage of a gene for dominant non-syndromic deafness to chromosome 19.

Authors:  A H Chen; L Ni; K Fukushima; J Marietta; M O'Neill; P Coucke; P Willems; R J Smith
Journal:  Hum Mol Genet       Date:  1995-06       Impact factor: 6.150

10.  Mutations in DNMT1 cause hereditary sensory neuropathy with dementia and hearing loss.

Authors:  Christopher J Klein; Maria-Victoria Botuyan; Yanhong Wu; Christopher J Ward; Garth A Nicholson; Simon Hammans; Kaori Hojo; Hiromitch Yamanishi; Adam R Karpf; Douglas C Wallace; Mariella Simon; Cecilie Lander; Lisa A Boardman; Julie M Cunningham; Glenn E Smith; William J Litchy; Benjamin Boes; Elizabeth J Atkinson; Sumit Middha; P James B Dyck; Joseph E Parisi; Georges Mer; David I Smith; Peter J Dyck
Journal:  Nat Genet       Date:  2011-05-01       Impact factor: 38.330

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  33 in total

Review 1.  Gene therapy for hearing loss.

Authors:  Ryotaro Omichi; Seiji B Shibata; Cynthia C Morton; Richard J H Smith
Journal:  Hum Mol Genet       Date:  2019-10-01       Impact factor: 6.150

Review 2.  Whole-exome sequencing and its impact in hereditary hearing loss.

Authors:  Tahir Atik; Guney Bademci; Oscar Diaz-Horta; Susan H Blanton; Mustafa Tekin
Journal:  Genet Res (Camb)       Date:  2015-03-31       Impact factor: 1.588

3.  The Mighty Mouse: the impact of rodents on advances in biomedical research.

Authors:  Elizabeth C Bryda
Journal:  Mo Med       Date:  2013 May-Jun

Review 4.  [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

5.  Have you heard? Viral-mediated gene therapy restores hearing.

Authors:  Donna M Martin; Yehoash Raphael
Journal:  Neuron       Date:  2012-07-26       Impact factor: 17.173

Review 6.  Genetics: advances in genetic testing for deafness.

Authors:  A Eliot Shearer; Richard J H Smith
Journal:  Curr Opin Pediatr       Date:  2012-12       Impact factor: 2.856

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.  Genetic analysis through OtoSeq of Pakistani families segregating prelingual hearing loss.

Authors:  Mohsin Shahzad; Theru A Sivakumaran; Tanveer A Qaiser; Julie M Schultz; Zawar Hussain; Megan Flanagan; Munir A Bhinder; Diane Kissell; John H Greinwald; Shaheen N Khan; Thomas B Friedman; Kejian Zhang; Saima Riazuddin; Sheikh Riazuddin; Zubair M Ahmed
Journal:  Otolaryngol Head Neck Surg       Date:  2013-06-14       Impact factor: 3.497

9.  Cytoplasmic mislocalization of POU3F4 due to novel mutations leads to deafness in humans and mice.

Authors:  Thomas Parzefall; Shaked Shivatzki; Danielle R Lenz; Birgit Rathkolb; Kathy Ushakov; Daphne Karfunkel; Yisgav Shapira; Michael Wolf; Manuela Mohr; Eckhard Wolf; Sibylle Sabrautzki; Martin Hrabé de Angelis; Moshe Frydman; Zippora Brownstein; Karen B Avraham
Journal:  Hum Mutat       Date:  2013-05-08       Impact factor: 4.878

Review 10.  Next-generation sequencing in genetic hearing loss.

Authors:  Denise Yan; Mustafa Tekin; Susan H Blanton; Xue Zhong Liu
Journal:  Genet Test Mol Biomarkers       Date:  2013-06-05
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