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Select item 29091031.

A novel autosomal recessive non-syndromic hearing impairment locus (DFNB47) maps to chromosome 2p25.1-p24.3

Muhammad Jawad Hassan, Regie Lyn P. Santos, Muhammad Arshad Rafiq, Maria H. Chahrour, Thanh L. Pham, Muhammad Wajid, Nadine Hijab, Michael Wambangco, Kwanghyuk Lee, Muhammad Ansar, Kai Yan, Wasim Ahmad, Suzanne M. Leal

Hum Genet. Author manuscript; available in PMC 2010 Jul 23.

Published in final edited form as: Hum Genet. 2006 Jan; 118(5): 605–610. Published online 2005 Oct 29. doi: 10.1007/s00439-005-0079-8

PMCID:: PMC2909103

Article PDF–835K

Select item 40223262.

EPS8, encoding an actin-binding protein of cochlear hair cell stereocilia, is a new causal gene for autosomal recessive profound deafness

Asma Behlouli, Crystel Bonnet, Samia Abdi, Aïcha Bouaita, Andrea Lelli, Jean-Pierre Hardelin, Cataldo Schietroma, Yahia Rous, Malek Louha, Ahmed Cheknane, Hayet Lebdi, Kamel Boudjelida, Mohamed Makrelouf, Akila Zenati, Christine Petit

Orphanet J Rare Dis. 2014; 9: 55. Published online 2014 Apr 17. doi: 10.1186/1750-1172-9-55

PMCID:: PMC4022326

Article PDF–3.4M

Select item 35037813.

Molecular Epidemiology and Functional Assessment of Novel Allelic Variants of SLC26A4 in Non-Syndromic Hearing Loss Patients with Enlarged Vestibular Aqueduct in China

Yongyi Yuan, Weiwei Guo, Jie Tang, Guozheng Zhang, Guojian Wang, Mingyu Han, Xun Zhang, Shiming Yang, David Z. Z. He, Pu Dai

PLoS One. 2012; 7(11): e49984. Published online 2012 Nov 21. doi: 10.1371/journal.pone.0049984

PMCID:: PMC3503781

Article PDF–187K

Select item 102178944.

PTRH2 Gene Variants: Recent Review of the Phenotypic Features and Their Bioinformatics Analysis

Rajech Sharkia, Sahil Jain, Muhammad Mahajnah, Clair Habib, Abdussalam Azem, Wasif Al-Shareef, Abdelnaser Zalan

Genes (Basel) 2023 May; 14(5): 1031. Published online 2023 Apr 30. doi: 10.3390/genes14051031

PMCID:: PMC10217894

Article PDF–865K

Select item 101464735.

A Review of CRISPR Tools for Treating Usher Syndrome: Applicability, Safety, Efficiency, and In Vivo Delivery

Lauren Major, Michelle E. McClements, Robert E. MacLaren

Int J Mol Sci. 2023 Apr; 24(8): 7603. Published online 2023 Apr 20. doi: 10.3390/ijms24087603

PMCID:: PMC10146473

Article PDF–5.2M

Select item 97121716.

Baseline Microperimetry and OCT in the RUSH2A Study: Structure-Function Association and Correlation with Disease Severity

Eleonora M. Lad, Jacque L. Duncan, Wendi Liang, Maureen G. Maguire, Allison R. Ayala, Isabelle Audo, David G. Birch, Joseph Carroll, Janet K. Cheetham, Todd A. Durham, Abigail T. Fahim, Jessica Loo, Zengtian Deng, Dibyendu Mukherjee, Elise Heon, Robert B. Hufnagel, Bin Guan, Alessandro Iannaccone, Glenn J. Jaffe, Christine N. Kay, Michel Michaelides, Mark E. Pennesi, Ajoy Vincent, Christina Y. Weng, Sina Farsiu, Foundation Fighting Blindness Consortium Investigator Group

Am J Ophthalmol. Author manuscript; available in PMC 2023 Dec 1.

Published in final edited form as: Am J Ophthalmol. 2022 Dec; 244: 98–116. Published online 2022 Aug 22. doi: 10.1016/j.ajo.2022.08.013

PMCID:: PMC9712171

Article PDF–1.1M

Select item 95695117.

New CRISPR Tools to Correct Pathogenic Mutations in Usher Syndrome

Lauren Major, Michelle E. McClements, Robert E. MacLaren

Int J Mol Sci. 2022 Oct; 23(19): 11669. Published online 2022 Oct 1. doi: 10.3390/ijms231911669

PMCID:: PMC9569511

Article PDF–2.0M

Select item 90185888.

Tissue-specific genotype-phenotype correlations among USH2A-related disorders in the RUSH2A study

Robert B. Hufnagel, Wendi Liang, Jacque L. Duncan, Carmen C. Brewer, Isabelle Audo, Allison R. Ayala, Kari Branham, Janet K. Cheetham, Stephen P. Daiger, Todd A. Durham, Bin Guan, Elise Heon, Carel B. Hoyng, Alessandro Iannaccone, Christine N. Kay, Michel Michaelides, Mark E. Pennesi, Mandeep S. Singh, Ehsan Ullah

Hum Mutat. Author manuscript; available in PMC 2023 May 1.

Published in final edited form as: Hum Mutat. 2022 May; 43(5): 613–624. Published online 2022 Mar 21. doi: 10.1002/humu.24365

PMCID:: PMC9018588

Article PDF–1.3M

Select item 90070949.

Diagnostic Yield of Targeted Hearing Loss Gene Panel Sequencing in a Large German Cohort With a Balanced Age Distribution from a Single Diagnostic Center: An Eight-year Study

Anke Tropitzsch, Thore Schade-Mann, Philipp Gamerdinger, Saskia Dofek, Björn Schulte, Martin Schulze, Florian Battke, Sarah Fehr, Saskia Biskup, Andreas Heyd, Marcus Müller, Hubert Löwenheim, Barbara Vona, Martin Holderried

Ear Hear. 2022 May-Jun; 43(3): 1049–1066. Published online 2021 Nov 8. doi: 10.1097/AUD.0000000000001159

PMCID:: PMC9007094

Article PDF–1.3M

Select item 896219710.

Analysis of the genotype–phenotype correlation of MYO15A variants in Chinese non-syndromic hearing loss patients

Ying Fu, Shasha Huang, Xue Gao, Mingyu Han, Guojian Wang, Dongyang Kang, Yongyi Yuan, Pu Dai

BMC Med Genomics. 2022; 15: 71. Published online 2022 Mar 26. doi: 10.1186/s12920-022-01201-3

PMCID:: PMC8962197

Article PDF–1.3M

Select item 871786411.

Auditory and Olfactory Findings in Patients with USH2A-related Retinal Degeneration – Findings at Baseline from the Rate of Progression in USH2A-related Retinal Degeneration Natural History Study (RUSH2A)

Alessandro Iannaccone, Carmen C. Brewer, Peiyao Cheng, Jacque L. Duncan, Maureen G. Maguire, Isabelle Audo, Allison R. Ayala, Paul S. Bernstein, Gavin M. Bidelman, Janet K. Cheetham, Richard L. Doty, Todd A. Durham, Robert B. Hufnagel, Mark H. Myers, Katarina Stingl, Wadih M. Zein, Foundation Fighting Blindness Consortium Investigator Group

Am J Med Genet A. Author manuscript; available in PMC 2022 Dec 1.

Published in final edited form as: Am J Med Genet A. 2021 Dec; 185(12): 3717–3727. Published online 2021 Jul 30. doi: 10.1002/ajmg.a.62437

PMCID:: PMC8717864

Article PDF–391K

Select item 859630212.

Baseline Visual Field Findings in the RUSH2A Study: Associated Factors and Correlation with Other Measures of Disease Severity

Jacque L. Duncan, Wendi Liang, Maureen G. Maguire, Isabelle Audo, Allison R. Ayala, David G. Birch, Joseph Carroll, Janet K. Cheetham, Simona Degli Esposti, Todd A. Durham, Laura Erker, Sina Farsiu, Frederick L. Ferris, III, Elise Heon, Robert B. Hufnagel, Alessandro F. Iannaccone, Glenn J. Jaffe, Christine N. Kay, Michel Michaelides, Mark E. Pennesi, José-Alain Sahel, Foundation Fighting Blindness Consortium Investigator Group

Am J Ophthalmol. Author manuscript; available in PMC 2021 Nov 17.

Published in final edited form as: Am J Ophthalmol. 2020 Nov; 219: 87–100. Published online 2020 May 22. doi: 10.1016/j.ajo.2020.05.024

PMCID:: PMC8596302

Article PDF–818K

Select item 839134213.

Benefits of Exome Sequencing in Children with Suspected Isolated Hearing Loss

Roxane Van Heurck, Maria Teresa Carminho-Rodrigues, Emmanuelle Ranza, Caterina Stafuzza, Lina Quteineh, Corinne Gehrig, Eva Hammar, Michel Guipponi, Marc Abramowicz, Pascal Senn, Nils Guinand, Helene Cao-Van, Ariane Paoloni-Giacobino

Genes (Basel) 2021 Aug; 12(8): 1277. Published online 2021 Aug 20. doi: 10.3390/genes12081277

PMCID:: PMC8391342

Article PDF–1.2M

Select item 605481214.

Usherin defects lead to early-onset retinal dysfunction in zebrafish

Margo Dona, Ralph Slijkerman, Kimberly Lerner, Sanne Broekman, Jeremy Wegner, Taylor Howat, Theo Peters, Lisette Hetterschijt, Nando Boon, Erik de Vrieze, Nasrin Sorusch, Uwe Wolfrum, Hannie Kremer, Stephan Neuhauss, Jingjing Zang, Maarten Kamermans, Monte Westerfield, Jennifer Phillips, Erwin van Wijk

Exp Eye Res. Author manuscript; available in PMC 2019 Aug 1.

Published in final edited form as: Exp Eye Res. 2018 Aug; 173: 148–159. Published online 2018 May 16. doi: 10.1016/j.exer.2018.05.015

PMCID:: PMC6054812

Article PDF–1.0M

Select item 603834615.

Comprehensive genomic diagnosis of non-syndromic and syndromic hereditary hearing loss in Spanish patients

Rubén Cabanillas, Marta Diñeiro, Guadalupe A. Cifuentes, David Castillo, Patricia C. Pruneda, Rebeca Álvarez, Noelia Sánchez-Durán, Raquel Capín, Ana Plasencia, Mónica Viejo-Díaz, Noelia García-González, Inés Hernando, José L. Llorente, Alfredo Repáraz-Andrade, Cristina Torreira-Banzas, Jordi Rosell, Nancy Govea, Justo Ramón Gómez-Martínez, Faustino Núñez-Batalla, José A. Garrote, Ángel Mazón-Gutiérrez, María Costales, María Isidoro-García, Belén García-Berrocal, Gonzalo R. Ordóñez, Juan Cadiñanos

BMC Med Genomics. 2018; 11: 58. Published online 2018 Jul 9. doi: 10.1186/s12920-018-0375-5

PMCID:: PMC6038346

Article PDF–964K

Select item 570257416.

Expanding the mutational spectrum in Johanson‐Blizzard syndrome: identification of whole exon deletions and duplications in the UBR1 gene by multiplex ligation‐dependent probe amplification analysis

Maja Sukalo, Eva Schäflein, Ina Schanze, David B. Everman, Nima Rezaei, Jesús Argente, Isabel Lorda‐Sanchez, Charu Deshpande, Tsutomu Takahashi, Alexander Kleger, Martin Zenker

Mol Genet Genomic Med. 2017 Nov; 5(6): 774–780. Published online 2017 Jul 31. doi: 10.1002/mgg3.319

PMCID:: PMC5702574

Article PDF–1.2M

Select item 552605417.

Auditory and Otologic Profile of Alström Syndrome: Comprehensive Single Center Data on 38 Patients

Spencer Lindsey, Carmen Brewer, Olga Stakhovskaya, H Jeffrey Kim, Chris Zalewski, Joy Bryant, Kelly A. King, Jürgen K. Naggert, William A Gahl, Jan D. Marshall, Meral Gunay-Aygun

Am J Med Genet A. Author manuscript; available in PMC 2018 Aug 1.

Published in final edited form as: Am J Med Genet A. 2017 Aug; 173(8): 2210–2218. Published online 2017 Jun 1. doi: 10.1002/ajmg.a.38316

PMCID:: PMC5526054

Article PDF–427K

Select item 497701218.

Further characterisation of the recently described SLC26A4 c.918+2T>C mutation and reporting of a novel variant predicted to be damaging

A.C. Gonçalves, R. Santos, A. O'Neill, P. Escada, G. Fialho, H. Caria

Acta Otorhinolaryngol Ital. 2016 Jun; 36(3): 233–238. doi: 10.14639/0392-100X-889

PMCID:: PMC4977012

Article PDF–307K

Select item 429791119.

Progressive hearing loss and vestibular dysfunction caused by a homozygous nonsense mutation in CLIC5

Celia Zazo Seco, Anne MM Oonk, María Domínguez-Ruiz, Jos MT Draaisma, Marta Gandía, Jaap Oostrik, Kornelia Neveling, Henricus PM Kunst, Lies H Hoefsloot, Ignacio del Castillo, Ronald JE Pennings, Hannie Kremer, Ronald JC Admiraal, Margit Schraders

Eur J Hum Genet. 2015 Feb; 23(2): 189–194. Published online 2014 Apr 30. doi: 10.1038/ejhg.2014.83

PMCID:: PMC4297911

Article PDF–1.3M

Select item 307040520.

Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosa

Terri L. McGee, Babak Jian Seyedahmadi, Meredith O. Sweeney, Thaddeus P. Dryja, Eliot L. Berson

J Med Genet. Author manuscript; available in PMC 2011 Jul 1.

Published in final edited form as: J Med Genet. 2010 Jul; 47(7): 499–506. Published online 2010 May 27. doi: 10.1136/jmg.2009.075143

PMCID:: PMC3070405

Article PDF–431K

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