Kenichiro Yamada

Aichi Developmental Disability Center — Japan

Medicine · Health Sciences

30h-index2.8kcitations138works0.72yr avg
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Research Topics

Mosquito-borne diseases and control(27), Viral Infections and Vectors(23), Malaria Research and Control(15), Biochemical and Molecular Research(11), Cytomegalovirus and herpesvirus research(8)

Publications138 total

Transcript imbalance from TENM4 exon skipping: effects on epilepsy and genetic pleiotropy
2025Open Access
Myokine BDNF highly expressed in Type I fibers inhibits the differentiation of myotubes into Type II fibers
Molecular Biology Reports·2024· 1 citedOpen Access
The efficacy and safety of intravenous immunoglobulin infusion in 12 h for the initial treatment of Kawasaki disease
Pediatrics & Neonatology·2024· 1 citedOpen Access
Pathogenicity evaluation of variants of uncertain significance at exon-intron junction by splicing assay in patients with Mowat–Wilson syndrome
European Journal of Medical Genetics·2023· 2 cited
<scp><i>R3HDM1</i></scp> haploinsufficiency is associated with mild intellectual disability
American Journal of Medical Genetics Part A·2021· 5 cited
Lateral neck pain as a symptom of severe sinusitis: A case report
Pediatrics International·2021
Identification of B.1.346 lineage of SARS-CoV-2 in Japan: Genomic evidence of re-entry of Clade 20C
2021· 1 citedOpen Access
Identification of B.1.346 Lineage of SARS-CoV-2 in Japan: Genomic Evidence of Re-entry of Clade 20C
The Keio Journal of Medicine·2021· 6 citedOpen Access
Clinical and molecular genetic characterization of two female patients harboring the Xq27.3q28 deletion with different ratios of X chromosome inactivation
Human Mutation·2020· 7 cited
Isozyme-Specific Role of SAD-A in Neuronal Migration During Development of Cerebral Cortex
Cerebral Cortex·2018· 18 citedOpen Access
Mutations in COA7 cause spinocerebellar ataxia with axonal neuropathy
Brain·2018· 46 cited
Clinical and genetic characterization of a patient with SOX5 haploinsufficiency caused by a de novo balanced reciprocal translocation
Gene·2018· 19 cited
High-dose thiamine prevents brain lesions and prolongs survival of Slc19a3-deficient mice
The Japanese Biochemical Society/The Molecular Biology Society of Japan·2017· 8 cited
Two female patients with Xq27.3q28 deletion and skewed X-inactivation display similar phenotypes as hunter syndrome
Journal of the Neurological Sciences·2017
High-dose thiamine prevents brain lesions and prolongs survival of Slc19a3-deficient mice
PLoS ONE·2017· 23 citedOpen Access
Clinical and molecular genetic characterization of two siblings with trisomy 2p24.3‐pter and monosomy 5p14.3‐pter
American Journal of Medical Genetics Part A·2017· 3 citedOpen Access
The effect of rapamycin, NVP-BEZ235, aspirin, and metformin on PI3K/AKT/mTOR signaling pathway of <i>PIK3CA</i>-related overgrowth spectrum (PROS)
Oncotarget·2017· 23 citedOpen Access
The first case of recurrent ultra late onset group B streptococcal sepsis in a 3-year-old child
IDCases·2016· 9 citedOpen Access
Effect of direct or indirect inhibitors of the PI3K/AKT/mTOR signaling pathway on cultured fibroblast from PIK3CA -related overgrowth spectrum (PROS) patient
The Molecular Biology Society of Japan·2016
Novel mutation in<i>HPRT1</i>causing a splicing error with multiple variations
Nucleosides Nucleotides & Nucleic Acids·2016· 5 cited
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Frequent Co-authors

Nobuaki Wakamatsu(17), Yasukazu Yamada(15), Ichiro Kurane(12), Noriko Nomura(10), Tomohiko Takasaki(10), Seiji Mizuno(8), Masaru Nawa(7), Sadao Yabe(7), Daisuke Fukushi(7), Reiko Kimura(6), Kiyokuni Miura(4), Toshiyuki Kumagai(4), Mikio Nakayama(4), Norihiro Mutoh(3), Masahiro Nagaya(3), Toshitaka Akatsuka(3), Mikako Ito(3), Reiko Nerome(3), Nobuaki Wakamatsu(3), Tomohiko Takasaki(3)