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Genes|January 25, 2025
The Heterozygous p.A684V Variant in the WFS1 Gene Is a Mutational Hotspot Causing a Severe Hearing Loss PhenotypeShintaro Otsuka, Chihiro Morimoto, Shin-Ya Nishio, et al.
Plos One|March 13, 2014
Massively parallel DNA sequencing facilitates diagnosis of patients with Usher syndrome type 1Hidekane Yoshimura, Satoshi Iwasaki, Shin-Ya Nishio, et al.
The Annals of Otology, Rhinology, and Laryngology|July 30, 2016
Detection and Confirmation of Deafness-Causing Copy Number Variations in the STRC Gene by Massively Parallel Sequencing and Comparative Genomic HybridizationHideaki Moteki, Hela Azaiez, Christina M Sloan-Heggen, et al.
ORL; Journal for Oto-Rhino-Laryngology and Its Related Specialties|November 24, 2022
Impact of Low Skeletal Muscle Mass on the Prognosis of Patients with Head and Neck Cancer Treated NonsurgicallyYoh-Ichiro Iwasa, Ryosuke Kitoh, Ken Hiramatsu, et al.
Genes|September 25, 2019
Mutational Spectrum and Clinical Features of Patients with LOXHD1 Variants Identified in an 8074 Hearing Loss Patient CohortKaruna Maekawa, Shin-Ya Nishio, Satoko Abe, et al.
Plos One|January 30, 2018
The diagnostic performance of a novel ELISA for human CTP (Cochlin-tomoprotein) to detect perilymph leakageTetsuo Ikezono, Tomohiro Matsumura, Han Matsuda, et al.
Acta Oto-Laryngologica|October 22, 2024
HEARRING group genetic marker study: genetic background of CI patientsShin-Ichi Usami, Shin-Ya Nishio, Javier Gavilán, et al.
The Annals of Otology, Rhinology, and Laryngology|March 20, 2015
Novel PTPRQ mutations identified in three congenital hearing loss patients with various types of hearing lossNaoko Sakuma, Hideaki Moteki, Hela Azaiez, et al.
Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [And] European Academy of Otology and Neurotology|April 16, 2021
Identification of a Novel Copy Number Variation of EYA4 Causing Autosomal Dominant Non-syndromic Hearing LossTakashi Ishino, Yui Ogawa, Toru Sonoyama, et al.
Genes|March 8, 2020
Clinical Characteristics and In Vitro Analysis of MYO6 Variants Causing Late-Onset Progressive Hearing LossShin-Ichiro Oka, Timothy F Day, Shin-Ya Nishio, et al.
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