PMC Links for Books (Select 1495302) - PMC

Select item 90349831.

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

Select item 74972892.

The Human Gene Mutation Database (HGMD^®): optimizing its use in a clinical diagnostic or research setting

Peter D. Stenson, Matthew Mort, Edward V. Ball, Molly Chapman, Katy Evans, Luisa Azevedo, Matthew Hayden, Sally Heywood, David S. Millar, Andrew D. Phillips, David N. Cooper

Hum Genet. 2020; 139(10): 1197–1207. Published online 2020 Jun 28. doi: 10.1007/s00439-020-02199-3

PMCID:: PMC7497289

Article PDF–2.5M

Select item 73812053.

Genotype-Phenotype Correlation for Predicting Cochlear Implant Outcome: Current Challenges and Opportunities

Adrien A. Eshraghi, Sai P. Polineni, Camron Davies, David Shahal, Jeenu Mittal, Zaid Al-Zaghal, Rahul Sinha, Urmi Jindal, Rahul Mittal

Front Genet. 2020; 11: 678. Published online 2020 Jul 14. doi: 10.3389/fgene.2020.00678

PMCID:: PMC7381205

Article PDF–527K

Select item 71964634.

Analyses of del(GJB6‐D13S1830) and del(GJB6‐D13S1834) deletions in a large cohort with hearing loss: Caveats to interpretation of molecular test results in multiplex families

Arti Pandya, Alexander O'Brien, Michael Kovasala, Guney Bademci, Mustafa Tekin, Kathleen S. Arnos

Mol Genet Genomic Med. 2020 Apr; 8(4): e1171. Published online 2020 Feb 17. doi: 10.1002/mgg3.1171

PMCID:: PMC7196463

Article PDF–903K

Select item 68315115.

A proposal for comprehensive newborn hearing screening to improve identification of deaf and hard-of-hearing children

A. Eliot Shearer, Jun Shen, Sami Amr, Cynthia C. Morton, Richard J. Smith, On behalf of the Newborn Hearing Screening Working Group of the National Coordinating Center for the Regional Genetics Networks

Genet Med. 2019; 21(11): 2614–2630. Published online 2019 Jun 7. doi: 10.1038/s41436-019-0563-5

Correction in:: Genet Med. 2019; 21(12): 2845–2846.

PMCID:: PMC6831511

Article PDF–697K

Select item 62306446.

Diagnostic pitfalls for GJB2‐related hearing loss: A novel deletion detected by Array‐CGH analysis in a Japanese patient with congenital profound hearing loss

Satoko Abe, Shin‐ya Nishio, Yoh Yokota, Hideaki Moteki, Kozo Kumakawa, Shin‐ichi Usami

Clin Case Rep. 2018 Nov; 6(11): 2111–2116. Published online 2018 Sep 21. doi: 10.1002/ccr3.1800

PMCID:: PMC6230644

Article PDF–443K

Select item 61886737.

Expert Specification of the ACMG/AMP Variant Interpretation Guidelines for Genetic Hearing Loss

Andrea M. Oza, Marina T. DiStefano, Sarah E. Hemphill, Brandon J. Cushman, Andrew R. Grant, Rebecca K. Siegert, Jun Shen, Alex Chapin, Nicole J. Boczek, Lisa A. Schimmenti, Jaclyn B. Murry, Linda Hasadsri, Kiyomitsu Nara, Margaret Kenna, Kevin T. Booth, Hela Azaiez, Andrew Griffith, Karen B. Avraham, Hannie Kremer, Heidi L. Rehm, Sami S. Amr, Ahmad N. Abou Tayoun

Hum Mutat. Author manuscript; available in PMC 2019 Nov 1.

Published in final edited form as: Hum Mutat. 2018 Nov; 39(11): 1593–1613. doi: 10.1002/humu.23630

PMCID:: PMC6188673

Article PDF–530K

Select item 61743558.

Genomic Landscape and Mutational Signatures of Deafness-Associated Genes

Hela Azaiez, Kevin T. Booth, Sean S. Ephraim, Bradley Crone, Elizabeth A. Black-Ziegelbein, Robert J. Marini, A. Eliot Shearer, Christina M. Sloan-Heggen, Diana Kolbe, Thomas Casavant, Michael J. Schnieders, Carla Nishimura, Terry Braun, Richard J.H. Smith

Am J Hum Genet. 2018 Oct 4; 103(4): 484–497. Published online 2018 Sep 20. doi: 10.1016/j.ajhg.2018.08.006

PMCID:: PMC6174355

Article PDF–3.5M

Select item 48741229.

Personalised long-term follow-up of cochlear implant patients using remote care, compared with those on the standard care pathway: study protocol for a feasibility randomised controlled trial

Helen Cullington, Padraig Kitterick, Lisa DeBold, Mark Weal, Nicholas Clarke, Eva Newberry, Lisa Aubert

BMJ Open. 2016; 6(5): e011342. Published online 2016 May 13. doi: 10.1136/bmjopen-2016-011342

PMCID:: PMC4874122

Article PDF–1.0M

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 458041811.

Long-Term Cochlear Implant Outcomes in Children with GJB2 and SLC26A4 Mutations

Che-Ming Wu, Hui-Chen Ko, Yung-Ting Tsou, Yin-Hung Lin, Ju-Li Lin, Chin-Kuo Chen, Pei-Lung Chen, Chen-Chi Wu

PLoS One. 2015; 10(9): e0138575. Published online 2015 Sep 23. doi: 10.1371/journal.pone.0138575

PMCID:: PMC4580418

Article PDF–250K

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

PMCID:: PMC4544753

Article PDF–960K

Select item 321984313.

GJB2 Gene Mutations in Syndromic Skin Diseases with Sensorineural Hearing Loss.

Sandra Iossa, Elio Marciano, Annamaria Franzé

Curr Genomics. 2011 Nov; 12(7): 475–785. doi: 10.2174/138920211797904098

PMCID:: PMC3219843

Article PDF–371K

Select item 285218114.

The children speak: An examination of the quality of life of pediatric cochlear implant users

Betty Loy, Andrea D. Warner-Czyz, Liyue Tong, Emily A. Tobey, Peter S. Roland

Otolaryngol Head Neck Surg. Author manuscript; available in PMC 2011 Feb 1.

Published in final edited form as: Otolaryngol Head Neck Surg. 2010 Feb; 142(2): 247–253. doi: 10.1016/j.otohns.2009.10.045

PMCID:: PMC2852181

Article PDF–65K

Select item 128517815.

GJB2 Mutations and Degree of Hearing Loss: A Multicenter Study

Rikkert L. Snoeckx, Patrick L. M. Huygen, Delphine Feldmann, Sandrine Marlin, Françoise Denoyelle, Jaroslaw Waligora, Malgorzata Mueller-Malesinska, Agneszka Pollak, Rafal Ploski, Alessandra Murgia, Eva Orzan, Pierangela Castorina, Umberto Ambrosetti, Ewa Nowakowska-Szyrwinska, Jerzy Bal, Wojciech Wiszniewski, Andreas R. Janecke, Doris Nekahm-Heis, Pavel Seeman, Olga Bendova, Margaret A. Kenna, Anna Frangulov, Heidi L. Rehm, Mustafa Tekin, Armagan Incesulu, Hans-Henrik M. Dahl, Desirée du Sart, Lucy Jenkins, Deirdre Lucas, Maria Bitner-Glindzicz, Karen B. Avraham, Zippora Brownstein, Ignacio del Castillo, Felipe Moreno, Nikolaus Blin, Markus Pfister, Istvan Sziklai, Timea Toth, Philip M. Kelley, Edward S. Cohn, Lionel Van Maldergem, Pascale Hilbert, Anne-Françoise Roux, Michel Mondain, Lies H. Hoefsloot, Cor W. R. J. Cremers, Tuija Löppönen, Heikki Löppönen, Agnete Parving, Karen Gronskov, Iris Schrijver, Joseph Roberson, Francesca Gualandi, Alessandro Martini, Geneviève Lina-Granade, Nathalie Pallares-Ruiz, Céu Correia, Graça Fialho, Kim Cryns, Nele Hilgert, Paul Van de Heyning, Carla J. Nishimura, Richard J. H. Smith, Guy Van Camp

Am J Hum Genet. 2005 Dec; 77(6): 945–957. Published online 2005 Oct 19. doi: 10.1086/497996

PMCID:: PMC1285178

Article PDF–832K

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