Mitsuko Nakashima

Hamamatsu University School of Medicine — Japan

Biochemistry, Genetics and Molecular Biology · Life Sciences

59h-index11.0kcitations299works0.82yr avg
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Research Topics

Genetics and Neurodevelopmental Disorders(72), Genomics and Rare Diseases(64), Genomic variations and chromosomal abnormalities(40), RNA regulation and disease(28), RNA modifications and cancer(23)

Publications297 total

Japanese siblings with neuronal ceroid lipofuscinosis type 7 showing different initial symptoms due to biallelic MFSD8 variants: A case report
Brain and Development Case Reports·2025Open Access
Muscle and thyroid manifestations in TANGO2 deficiency disorder: a case study of novel biallelic variants
Brain and Development·2025Open Access
Hemizygous loss-of-function variants of EIF1AX are associated with a syndromic neurodevelopmental disorder
2025Open Access
A Japanese familial spastic paraplegia associated with a missense UBQLN2 variant
Journal of Human Genetics·2025
Immunohistochemical and molecular evolutionary features of jejunoileal adenocarcinoma unveiled through comparative analysis with colorectal adenocarcinoma
Neoplasia·2025· 2 citedOpen Access
Clinical and genetic spectrum of patients with IRF2BPL syndrome
Journal of Human Genetics·2025
Compound heterozygous <scp> <i>ZNF335</i> </scp> variants in a patient with microcephaly, refractory epilepsy, and severe developmental delay: A case report and literature review
Congenital Anomalies·2025
Homozygous Microdeletion Involving Exon 1 of <scp><i>ERCC8</i></scp> and <scp><i>NDUFAF2</i></scp> With Uniparental Isodisomy of Chromosome 5
Molecular Genetics & Genomic Medicine·2024· 1 citedOpen Access
Bi-allelic variants in WDR47 cause a complex neurodevelopmental syndrome
EMBO Molecular Medicine·2024Open Access
CLCN2-related leukoencephalopathy with novel compound heterozygous variants followed with magnetic resonance imaging over 17 years: a case report
BMC Neurology·2024· 5 citedOpen Access
Identifying pathogenic variants in rare pediatric neurological diseases using exome sequencing
Scientific Reports·2024· 1 citedOpen Access
A new case of developmental and epileptic encephalopathy and macrocytic anemia with stretched-activated ion channel TMEM63B variant
Brain and Development Case Reports·2024· 1 citedOpen Access
Evaluation of heat stress of workers using wearable biosensors in protected horticulture
Acta Horticulturae·2024· 1 cited
GRIN2A-related disorder causes profound developmental delay and a disorder affecting movement
Brain and Development Case Reports·2024· 1 citedOpen Access
Exploring unsolved cases of lissencephaly spectrum: integrating exome and genome sequencing for higher diagnostic yield
Journal of Human Genetics·2024· 2 citedOpen Access
The impact of variant annotations on the diagnostic yield of exome sequencing for rare pediatric neurological diseases
2024Open Access
CLCN2-related leukoencephalopathy with novel compound heterozygous variants followed with magnetic resonance imaging (MRI) over 17 years: a case report
Research Square (Research Square)·2024Open Access
Bi-allelic variants in <i>WDR47</i> lead to neuronal loss causing a rare neurodevelopmental syndrome with corpus callosum dysgenesis in humans
2023Open Access
Splicing variant of WDR37 in a case of Neurooculocardiogenitourinary syndrome
Brain and Development·2023· 4 cited
A case of infantile spasms with three possibly pathogenic de novo missense variants in NF1 and GABBR1
Human Genome Variation·2023Open Access
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Frequent Co-authors

Naomichi Matsumoto(44), Hirotomo Saitsu(43), Noriko Miyake(35), Yoshinori Tsurusaki(30), Mitsuhiro Kato(29), Satoko Miyatake(15), Jun Tohyama(15), Nobuhiko Okamoto(13), Chihiro Ohba(13), Masaaki Shiina(12), Kazuhiro Ogata(12), Hirofumi Kodera(10), Hitoshi Osaka(10), Kazuyuki Nakamura(9), Kiyomi Nishiyama(8), Eriko Koshimizu(8), Masaya Kubota(6), Kiyoshi Hayasaka(6), Kazuhiro Haginoya(6), Fumiaki Tanaka(6)