Concepedia
Statistics
Publications
45
Citations
1.6K
H-Index
24
Active since
2000
Affiliations
Tokyo Medical Center(Current)
National Hospital Organization
National Center For Child Health and Development
National Mie Hospital
Chiba Hospital
Hideki Mutai is an author at Tokyo Medical Center specializing in medicine, hearing loss, and genetics.
Top concepts
MedicineGeneticsHearing LossAudiologyArtsGenetic EpidemiologyPathologyMolecular BiologyAuditory PhysiologyCell Biology
Publications per year
2000–2022
TMC and EVER genes belong to a larger novel family, the TMC gene family encoding transmembrane proteins
Gábor Keresztes, Hideki Mutai, Stefan Heller · BMC Genomics · 2003 · 149 citations · Full text
Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel
Jun Shen, Andrea M. Oza, Ignacio del Castillo et al. · Genetics in Medicine · 2019 · 98 citations · Full text
Genetics, P.val37ile Variants, Genetic Epidemiology +5
Diverse spectrum of rare deafness genes underlies early-childhood hearing loss in Japanese patients: a cross-sectional, multi-center next-generation sequencing study
Hideki Mutai, Suzuki Naohiro, Atsushi Shimizu et al. · Orphanet Journal of Rare Diseases · 2013 · 96 citations · Full text
Absence of the RGS9·Gβ5 GTPase-activating Complex in Photoreceptors of the R9AP Knockout Mouse
Gábor Keresztes, Kirill A. Martemyanov, Claudia M. Krispel et al. · Journal of Biological Chemistry · 2004 · 92 citations · Full text
ClinGen expert clinical validity curation of 164 hearing loss gene–disease pairs
Marina T. DiStefano, Sarah E. Hemphill, Andrea M. Oza et al. · Genetics in Medicine · 2019 · 91 citations · Full text
Genetic Epidemiology, Audiology, Pathology +9
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