Literature DB >> 30828794

Exome sequencing reveals novel variants and unique allelic spectrum for hearing impairment in Filipino cochlear implantees.

Brittany T Truong1, Talitha K L Yarza2,3, Tori Bootpetch Roberts4, Susannah Roberts4, Jonathan Xu4, Matthew J Steritz4, Celina A M Tobias-Grasso5, Mahshid Azamian6, Seema R Lalani6, Karen L Mohlke7, Nanette R Lee8, Eva Maria Cutiongco-de la Paz9,10, Maria Rina T Reyes-Quintos2,3,9,11, Regie Lyn P Santos-Cortez1,2,4, Charlotte M Chiong2,3,11.   

Abstract

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Year:  2019        PMID: 30828794      PMCID: PMC6499369          DOI: 10.1111/cge.13515

Source DB:  PubMed          Journal:  Clin Genet        ISSN: 0009-9163            Impact factor:   4.438


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  4 in total

1.  Massively parallel sequencing and targeted exomes in familial kidney disease can diagnose underlying genetic disorders.

Authors:  Andrew J Mallett; Hugh J McCarthy; Gladys Ho; Katherine Holman; Elizabeth Farnsworth; Chirag Patel; Jeffery T Fletcher; Amali Mallawaarachchi; Catherine Quinlan; Bruce Bennetts; Stephen I Alexander
Journal:  Kidney Int       Date:  2017-08-23       Impact factor: 10.612

2.  The SLC26A4 c.706C>G (p.Leu236Val) Variant is a Frequent Cause of Hearing Impairment in Filipino Cochlear Implantees.

Authors:  Charlotte M Chiong; Ma Rina T Reyes-Quintos; Talitha Karisse L Yarza; Celina Ann M Tobias-Grasso; Anushree Acharya; Suzanne M Leal; Karen L Mohlke; Nanette L Mayol; Eva Maria Cutiongco-de la Paz; Regie Lyn P Santos-Cortez
Journal:  Otol Neurotol       Date:  2018-09       Impact factor: 2.311

3.  Serum Metabolic Fingerprinting Identified Putatively Annotated Sphinganine Isomer as a Biomarker of Wolfram Syndrome.

Authors:  Agnieszka Zmyslowska; Michal Ciborowski; Maciej Borowiec; Wojciech Fendler; Karolina Pietrowska; Ewa Parfieniuk; Karolina Antosik; Aleksandra Pyziak; Arleta Waszczykowska; Adam Kretowski; Wojciech Mlynarski
Journal:  J Proteome Res       Date:  2017-11-03       Impact factor: 4.466

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

Authors:  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
Journal:  Hum Genet       Date:  2016-03-11       Impact factor: 4.132

  4 in total
  5 in total

1.  A2ML1 and otitis media: novel variants, differential expression, and relevant pathways.

Authors:  Eric D Larson; Jose Pedrito M Magno; Matthew J Steritz; Erasmo Gonzalo D V Llanes; Jonathan Cardwell; Melquiadesa Pedro; Tori Bootpetch Roberts; Elisabet Einarsdottir; Rose Anne Q Rosanes; Christopher Greenlee; Rachel Ann P Santos; Ayesha Yousaf; Sven-Olrik Streubel; Aileen Trinidad R Santos; Amanda G Ruiz; Sheryl Mae Lagrana-Villagracia; Dylan Ray; Talitha Karisse L Yarza; Melissa A Scholes; Catherine B Anderson; Anushree Acharya; Samuel P Gubbels; Michael J Bamshad; Stephen P Cass; Nanette R Lee; Rehan S Shaikh; Deborah A Nickerson; Karen L Mohlke; Jeremy D Prager; Teresa Luisa G Cruz; Patricia J Yoon; Generoso T Abes; David A Schwartz; Abner L Chan; Todd M Wine; Eva Maria Cutiongco-de la Paz; Norman Friedman; Katerina Kechris; Juha Kere; Suzanne M Leal; Ivana V Yang; Janak A Patel; Ma Leah C Tantoco; Saima Riazuddin; Kenny H Chan; Petri S Mattila; Maria Rina T Reyes-Quintos; Zubair M Ahmed; Herman A Jenkins; Tasnee Chonmaitree; Lena Hafrén; Charlotte M Chiong; Regie Lyn P Santos-Cortez
Journal:  Hum Mutat       Date:  2019-05-21       Impact factor: 4.878

2.  Identification of a novel CNV at the EYA4 gene in a Chinese family with autosomal dominant nonsyndromic hearing loss.

Authors:  Weixun Zhang; Jing Song; Busheng Tong; Mengye Ma; Luo Guo; Yasheng Yuan; Juanmei Yang
Journal:  BMC Med Genomics       Date:  2022-05-16       Impact factor: 3.622

3.  Prevalence and clinical features of hearing loss caused by EYA4 variants.

Authors:  Jun Shinagawa; Hideaki Moteki; Shin-Ya Nishio; Kenji Ohyama; Koshi Otsuki; Satoshi Iwasaki; Shin Masuda; Chie Oshikawa; Yumi Ohta; Yasuhiro Arai; Masahiro Takahashi; Naoko Sakuma; Satoko Abe; Yuika Sakurai; Hirofumi Sakaguchi; Takashi Ishino; Natsumi Uehara; Shin-Ichi Usami
Journal:  Sci Rep       Date:  2020-02-27       Impact factor: 4.379

4.  Insights into the pathophysiology of DFNA10 hearing loss associated with novel EYA4 variants.

Authors:  Matias Morín; Lucía Borreguero; Kevin T Booth; María Lachgar; Patrick Huygen; Manuela Villamar; Fernando Mayo; Luis Carlos Barrio; Luciana Santos Serrão de Castro; Carmelo Morales; Ignacio Del Castillo; Beatriz Arellano; Dolores Tellería; Richard J H Smith; Hela Azaiez; M A Moreno Pelayo
Journal:  Sci Rep       Date:  2020-04-10       Impact factor: 4.379

5.  Identification of Novel Candidate Genes and Variants for Hearing Loss and Temporal Bone Anomalies.

Authors:  Regie Lyn P Santos-Cortez; Talitha Karisse L Yarza; Tori C Bootpetch; Ma Leah C Tantoco; Karen L Mohlke; Teresa Luisa G Cruz; Mary Ellen Chiong Perez; Abner L Chan; Nanette R Lee; Celina Ann M Tobias-Grasso; Maria Rina T Reyes-Quintos; Eva Maria Cutiongco-de la Paz; Charlotte M Chiong
Journal:  Genes (Basel)       Date:  2021-04-13       Impact factor: 4.096

  5 in total

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