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Items: 15

Select item 97293841.

De novo mutations are a common cause of genetic hearing loss

Miles J. Klimara, Carla Nishimura, Donghong Wang, Diana L. Kolbe, Amanda M. Schaefer, William D. Walls, Kathy L. Frees, Richard J.H. Smith, Hela Azaiez

Genet Med. Author manuscript; available in PMC 2022 Dec 8.

Published in final edited form as: Genet Med. 2022 Dec; 24(12): 2555–2567. Published online 2022 Oct 4. doi: 10.1016/j.gim.2022.08.028

PMCID:: PMC9729384

Article PDF–908K

Select item 91280252.

Genetic Causes of Hearing Loss in a Large Cohort of Cochlear Implant Recipients

Kristen L. Seligman, A. Eliot Shearer, Kathy Frees, Carla Nishimura, Diana Kolbe, Camille Dunn, Marlan R. Hansen, Bruce J. Gantz, Richard J. H. Smith

Otolaryngol Head Neck Surg. Author manuscript; available in PMC 2022 May 24.

Published in final edited form as: Otolaryngol Head Neck Surg. 2022 Apr; 166(4): 734–737. Published online 2021 Jun 22. doi: 10.1177/01945998211021308

PMCID:: PMC9128025

Article PDF–288K

Select item 90349833.

Hearing loss in Africa: current genetic profile

Samuel Mawuli Adadey, Edmond Wonkam-Tingang, Elvis Twumasi Aboagye, Osbourne Quaye, Gordon A. Awandare, Ambroise Wonkam

Hum Genet. 2022; 141(3-4): 505–517. Published online 2021 Oct 5. doi: 10.1007/s00439-021-02376-y

PMCID:: PMC9034983

Article PDF–1008K

Select item 86133154.

Clinical Pharmacogenetics Implementation Consortium Guideline for the Use of Aminoglycosides Based on MT-RNR1 Genotype

John Henry McDermott, Joshua Wolf, Keito Hoshitsuki, Rachel Huddart, Kelly E. Caudle, Michelle Whirl-Carrillo, Peter S. Steyger, Richard J. H. Smith, Neal Cody, Cristina Rodriguez-Antona, Teri E. Klein, William G. Newman

Clin Pharmacol Ther. Author manuscript; available in PMC 2023 Feb 1.

Published in final edited form as: Clin Pharmacol Ther. 2022 Feb; 111(2): 366–372. Published online 2021 Jun 20. doi: 10.1002/cpt.2309

PMCID:: PMC8613315

Article PDF–85K

Select item 71710965.

Exome sequencing in infants with congenital hearing impairment: a population-based cohort study

Lilian Downie, Jane Halliday, Rachel Burt, Sebastian Lunke, Elly Lynch, Melissa Martyn, Zeffie Poulakis, Clara Gaff, Valerie Sung, Melissa Wake, Matthew F. Hunter, Kerryn Saunders, Elizabeth Rose, Sharon Lewis, Anna Jarmolowicz, Dean Phelan, Heidi L. Rehm, Melbourne Genomics Health Alliance, David J. Amor

Eur J Hum Genet. 2020 May; 28(5): 587–596. Published online 2019 Dec 12. doi: 10.1038/s41431-019-0553-8

Correction in:: Eur J Hum Genet. 2021 Feb; 29(2): 363.

PMCID:: PMC7171096

Article PDF–576K

Select item 67195896.

The Epidemiology of Deafness

Abraham M. Sheffield, Richard J.H. Smith

Cold Spring Harb Perspect Med. 2019 Sep; 9(9): a033258. doi: 10.1101/cshperspect.a033258

PMCID:: PMC6719589

Article PDF–621K

Select item 58829457.

Shared neural correlates for building phrases in signed and spoken language

Esti Blanco-Elorrieta, Itamar Kastner, Karen Emmorey, Liina Pylkkänen

Sci Rep. 2018; 8: 5492. Published online 2018 Apr 3. doi: 10.1038/s41598-018-23915-0

PMCID:: PMC5882945

Article PDF–1.8M

Select item 55273668.

Hearing loss as a risk factor for dementia: A systematic review

Rhett S. Thomson, Priscilla Auduong, Alexander T. Miller, Richard K. Gurgel

Laryngoscope Investig Otolaryngol. 2017 Apr; 2(2): 69–79. Published online 2017 Mar 16. doi: 10.1002/lio2.65

PMCID:: PMC5527366

Article PDF–146K

Select item 55272929.

Genetic Variants in the Peripheral Auditory System Significantly Affect Adult Cochlear Implant Performance

A Eliot Shearer, Robert W Eppsteiner, Kathy Frees, Viral Tejani, Christina M Sloan-Heggen, Carolyn Brown, Paul Abbas, Camille Dunn, Marlan R Hansen, Bruce J Gantz, Richard J.H. Smith

Hear Res. Author manuscript; available in PMC 2017 Jul 26.

Published in final edited form as: Hear Res. 2017 May; 348: 138–142. Published online 2017 Feb 15. doi: 10.1016/j.heares.2017.02.008

PMCID:: PMC5527292

Article PDF–420K

Select item 479632010.

Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss

Christina M. Sloan-Heggen, Amanda O. Bierer, A. Eliot Shearer, Diana L. Kolbe, Carla J. Nishimura, Kathy L. Frees, Sean S. Ephraim, Seiji B. Shibata, Kevin T. Booth, Colleen A. Campbell, Paul T. Ranum, Amy E. Weaver, E. Ann Black-Ziegelbein, Donghong Wang, Hela Azaiez, Richard J. H. Smith

Hum Genet. 2016; 135: 441–450. Published online 2016 Mar 11. doi: 10.1007/s00439-016-1648-8

PMCID:: PMC4796320

Article PDF–529K

Select item 473192511.

Timing, rates and spectra of human germline mutation

Raheleh Rahbari, Arthur Wuster, Sarah J. Lindsay, Robert J. Hardwick, Ludmil B. Alexandrov, Saeed Al Turki, Anna Dominiczak, Andrew Morris, David Porteous, Blair Smith, Michael R. Stratton, UK10K Consortium, Matthew E. Hurles

Nat Genet. Author manuscript; available in PMC 2016 Jun 14.

Published in final edited form as: Nat Genet. 2016 Feb; 48(2): 126–133. Published online 2015 Dec 14. doi: 10.1038/ng.3469

PMCID:: PMC4731925

Article PDF–1.6M

Select item 454475312.

Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W. Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector, Karl Voelkerding, Heidi L. Rehm

Genet Med. Author manuscript; available in PMC 2015 Nov 1.

Published in final edited form as: Genet Med. 2015 May; 17(5): 405–424. Published online 2015 Mar 5. doi: 10.1038/gim.2015.30