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Select item 408931.

Expression in cochlea and retina of myosin VIIa, the gene product defective in Usher syndrome type 1B.

T Hasson, M B Heintzelman, J Santos-Sacchi, D P Corey, M S Mooseker

Proc Natl Acad Sci U S A. 1995 Oct 10; 92(21): 9815–9819. doi: 10.1073/pnas.92.21.9815

PMCID:: PMC40893

Summary Page Browse PDF–1.6M

Select item 69388532.

Genome Editing in Patient iPSCs Corrects the Most Prevalent USH2A Mutations and Reveals Intriguing Mutant mRNA Expression Profiles

Carla Sanjurjo-Soriano, Nejla Erkilic, David Baux, Daria Mamaeva, Christian P. Hamel, Isabelle Meunier, Anne-Françoise Roux, Vasiliki Kalatzis

Mol Ther Methods Clin Dev. 2020 Jun 12; 17: 156–173. Published online 2019 Nov 27. doi: 10.1016/j.omtm.2019.11.016

PMCID:: PMC6938853

Abstract Article PDF–4.9M

Select item 67267373.

Broad Phenotypes of Disorders/Differences of Sex Development in MAMLD1 Patients Through Oligogenic Disease

Christa E. Flück, Laura Audí, Mónica Fernández-Cancio, Kay-Sara Sauter, Idoia Martinez de LaPiscina, Luis Castaño, Isabel Esteva, Núria Camats

Front Genet. 2019; 10: 746. Published online 2019 Aug 29. doi: 10.3389/fgene.2019.00746

PMCID:: PMC6726737

Abstract Article PDF–1.6M

Select item 66724404.

Molecular Characterization of the Ankle-Link Complex in Cochlear Hair Cells and Its Role in the Hair Bundle Functioning

Nicolas Michalski, Vincent Michel, Amel Bahloul, Gaëlle Lefèvre, Jérémie Barral, Hideshi Yagi, Sébastien Chardenoux, Dominique Weil, Pascal Martin, Jean-Pierre Hardelin, Makoto Sato, Christine Petit

J Neurosci. 2007 Jun 13; 27(24): 6478–6488. doi: 10.1523/JNEUROSCI.0342-07.2007

PMCID:: PMC6672440

Abstract Article PDF–1.0M

Select item 66592485.

Novel compound heterozygous mutations in OCA2 gene associated with non-syndromic oculocutaneous albinism in a Chinese Han patient: a case report

Hairong Wang, Yang Wan, Yun Yang, Hao Li, Liangwei Mao, Shuyang Gao, Jingjing Xu, Jing Wang

BMC Med Genet. 2019; 20: 130. Published online 2019 Jul 25. doi: 10.1186/s12881-019-0850-7

PMCID:: PMC6659248

Abstract Article PDF–1.4M

Select item 63674846.

Elucidation of the unique mutation spectrum of severe hearing loss in a Vietnamese pediatric population

Jae Joon Han, Pham Dinh Nguyen, Doo-Yi Oh, Jin Hee Han, Ah-Reum Kim, Min Young Kim, Hye-Rim Park, Lam Huyen Tran, Nguyen Huu Dung, Ja-Won Koo, Jun Ho Lee, Seung Ha Oh, Hoang Anh Vu, Byung Yoon Choi

Sci Rep. 2019; 9: 1604. Published online 2019 Feb 7. doi: 10.1038/s41598-018-38245-4

PMCID:: PMC6367484

Abstract Article PDF–1.4M

Select item 61941327.

A new approach based on targeted pooled DNA sequencing identifies novel mutations in patients with Inherited Retinal Dystrophies

Maitane Ezquerra-Inchausti, Ander Anasagasti, Olatz Barandika, Gonzaga Garay-Aramburu, Marta Galdós, Adolfo López de Munain, Cristina Irigoyen, Javier Ruiz-Ederra

Sci Rep. 2018; 8: 15457. Published online 2018 Oct 18. doi: 10.1038/s41598-018-33810-3

Correction in:: Sci Rep. 2019; 9: 8113.

PMCID:: PMC6194132

Abstract Article PDF–1.5M

Select item 60793738.

Genetic Etiology Study of Ten Chinese Families with Nonsyndromic Hearing Loss

Songqun Hu, Feifei Sun, Jie Zhang, Yan Tang, Jinhong Qiu, Zhixia Wang, Luping Zhang

Neural Plast. 2018; 2018: 4920980. Published online 2018 Jul 5. doi: 10.1155/2018/4920980

PMCID:: PMC6079373

Abstract Article PDF–884K

Select item 59772079.

Validation of Ion Torrent^TM Inherited Disease Panel with the PGM^TM Sequencing Platform for Rapid and Comprehensive Mutation Detection

Abeer E. Mustafa, Tariq Faquih, Batoul Baz, Rana Kattan, Abdulelah Al-Issa, Asma I. Tahir, Faiqa Imtiaz, Khushnooda Ramzan, Moeenaldeen Al-Sayed, Mohammed Alowain, Zuhair Al-Hassnan, Hamad Al-Zaidan, Mohamed Abouelhoda, Bashayer R. Al-Mubarak, Nada A. Al Tassan

Genes (Basel) 2018 May; 9(5): 267. Published online 2018 May 22. doi: 10.3390/genes9050267

PMCID:: PMC5977207

Abstract Article PDF–424K

Select item 594122710.

ATOH1/RFX1/RFX3 transcription factors facilitate the differentiation and characterisation of inner ear hair cell-like cells from patient-specific induced pluripotent stem cells harbouring A8344G mutation of mitochondrial DNA

Yen-Chun Chen, Chia-Ling Tsai, Yau-Huei Wei, Yu-Ting Wu, Wei-Ting Hsu, Hung-Ching Lin, Yi-Chao Hsu

Cell Death Dis. 2018 Apr; 9(4): 437. Published online 2018 Apr 19. doi: 10.1038/s41419-018-0488-y

PMCID:: PMC5941227

Abstract Article PDF–2.3M

Select item 581717811.

The first case of NSHL by direct impression on EYA1 gene and identification of one novel mutation in MYO7A in the Iranian families

Ehsan Razmara, Fatemeh Bitarafan, Elika Esmaeilzadeh-Gharehdaghi, Navid Almadani, Masoud Garshasbi

Iran J Basic Med Sci. 2018 Mar; 21(3): 333–341. doi: 10.22038/IJBMS.2018.26269.6441

PMCID:: PMC5817178

Abstract Article PDF–1.3M

Select item 544441712.

Molecular Analysis of Twelve Pakistani Families with Nonsyndromic or Syndromic Hearing Loss

Rongrong Wang, Shirui Han, Amjad Khan, Xue Zhang

Genet Test Mol Biomarkers. 2017 May 1; 21(5): 316–321. Published online 2017 May 1. doi: 10.1089/gtmb.2016.0328

PMCID:: PMC5444417

Abstract Article PDF–307K

Select item 532466013.

The Clinical Next‐Generation Sequencing Database: A Tool for the Unified Management of Clinical Information and Genetic Variants to Accelerate Variant Pathogenicity Classification

Shin‐ya Nishio, Shin‐ichi Usami

Hum Mutat. 2017 Mar; 38(3): 252–259. Published online 2017 Jan 11. doi: 10.1002/humu.23160

PMCID:: PMC5324660

Abstract Article PDF–1.3M

Select item 513505214.

Comprehensive Genetic Analysis of Japanese Autosomal Dominant Sensorineural Hearing Loss Patients

Yoh-ichiro Iwasa, Shin-ya Nishio, Shin-ichi Usami

PLoS One. 2016; 11(12): e0166781. Published online 2016 Dec 2. doi: 10.1371/journal.pone.0166781

PMCID:: PMC5135052

Abstract Article PDF–1020K

Select item 507399415.

Utilization of amplicon-based targeted sequencing panel for the massively parallel sequencing of sporadic hearing impairment patients from Saudi Arabia

Ashraf Dallol, Kamal Daghistani, Aisha Elaimi, Wissam A. Al-Wazani, Afaf Bamanie, Malek Safiah, Samira Sagaty, Layla Taha, Rawabi Zahed, Osama Bajouh, Adeel Gulzar Chaudhary, Mamdooh Abdullah Gari, Rola Turki, Mohammed Hussein Al-Qahtani, Adel Mohammed Abuzenadah

BMC Med Genet. 2016; 17(Suppl 1): 67. Published online 2016 Oct 10. doi: 10.1186/s12881-016-0329-8

PMCID:: PMC5073994

Abstract Article PDF–547K

Select item 489350316.

Frequency of Usher syndrome type 1 in deaf children by massively parallel DNA sequencing

Hidekane Yoshimura, Maiko Miyagawa, Kozo Kumakawa, Shin-ya Nishio, Shin-ichi Usami

J Hum Genet. 2016 May; 61(5): 419–422. Published online 2016 Jan 21. doi: 10.1038/jhg.2015.168

PMCID:: PMC4893503

Abstract Article PDF–330K

Select item 473336317.

CHARACTERIZING THE SPECTRUM OF AUTOSOMAL RECESSIVE HEREDITARY HEARING LOSS IN IRAN

Christina M Sloan-Heggen, Mojgan Babanejad, Maryam Beheshtian, Allen C Simpson, Kevin T Booth, Fariba Ardalani, Kathy L Frees, Marzieh Mohseni, Reza Mozafari, Zohreh Mehrjoo, Leila Jamali, Saeideh Vaziri, Tara Akhtarkhavari, Niloofar Bazazzadegan, Nooshin Nikzat, Sanaz Arzhangi, Farahnaz Sabbagh, Hasan Otukesh, Seyed Morteza Seifati, Hossein Khodaei, Maryam Taghdiri, Nicole C Meyer, Ahmad Daneshi, Mohammad Farhadi, Kimia Kahrizi, Richard JH Smith, Hela Azaiez, Hossein Najmabadi

J Med Genet. Author manuscript; available in PMC 2016 Jan 30.

Published in final edited form as: J Med Genet. 2015 Dec; 52(12): 823–829. Published online 2015 Oct 7. doi: 10.1136/jmedgenet-2015-103389

PMCID:: PMC4733363

Abstract Article PDF–1.4M

Select item 464161918.

Comprehensive Analysis of Deafness Genes in Families with Autosomal Recessive Nonsyndromic Hearing Loss

Tahir Atik, Huseyin Onay, Ayca Aykut, Guney Bademci, Tayfun Kirazli, Mustafa Tekin, Ferda Ozkinay

PLoS One. 2015; 10(11): e0142154. Published online 2015 Nov 11. doi: 10.1371/journal.pone.0142154

PMCID:: PMC4641619

Abstract Article PDF–446K

Select item 453963919.

Phenotype of Usher syndrome type II assosiated with compound missense mutations of c.721 C>T and c.1969 C>T in MYO7A in a Chinese Usher syndrome family

Wei Zhai, Xin Jin, Yan Gong, Ling-Hui Qu, Chen Zhao, Zhao-Hui Li

Int J Ophthalmol. 2015; 8(4): 670–674. Published online 2015 Aug 18. doi: 10.3980/j.issn.2222-3959.2015.04.05

PMCID:: PMC4539639

Abstract Article PDF–1.0M

Select item 451137320.

The genetic bases for non-syndromic hearing loss among Chinese

Xiao Mei Ouyang, Denise Yan, Hui Jun Yuan, Dai Pu, Li Lin Du, Don Yi Han, Xue Zhong Liu

J Hum Genet. Author manuscript; available in PMC 2015 Jul 22.

Published in final edited form as: J Hum Genet. 2009 Mar; 54(3): 131–140. Published online 2009 Feb 6. doi: 10.1038/jhg.2009.4

PMCID:: PMC4511373

Abstract Article PDF–564K

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