Tomoo Ogi

Nagoya College — Japan

Biochemistry, Genetics and Molecular Biology · Life Sciences

42h-index8.2kcitations210works4.22yr avg
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Research Topics

DNA Repair Mechanisms(69), Skin and Cellular Biology Research(22), RNA modifications and cancer(20), CRISPR and Genetic Engineering(18), Carcinogens and Genotoxicity Assessment(15)

Publications210 total

Gerstmann–Sträussler–Scheinker disease mimicking primary progressive multiple sclerosis: A case with positive oligoclonal bands
Multiple Sclerosis Journal·2025
240 Digenic inheritance of SERPINA12 and SERPINB7 in Nagashima-type palmoplantar keratoderma, prevalent pEDD in East Asia
Journal of Investigative Dermatology·2025Open Access
Pathogenic variants in the cohesin loader subunit MAU2 lead to a new Cornelia de Lange Syndrome subtype
2025Open Access
TLR7 Variants Enhance Responsiveness and Broaden RNA Specificity To Drive Human Lupus
2025Open Access
<scp> <i>MVD</i> </scp> ‐Nonsyndromic Epidermal Differentiation Disorder With a Previously Unreported Splice Variant in <scp> <i>MVD</i> </scp> Followed by Bullous Pemphigoid
The Journal of Dermatology·2025Open Access
TFIIH-p52ΔC defines a ninth xeroderma pigmentosum complementation–group XP-J and restores TFIIH stability to p8-defective trichothiodystrophy
Journal of Clinical Investigation·2025· 2 citedOpen Access
XP-J, a ninth xeroderma pigmentosum complementation group, results from mutations in GTF2H4, encoding TFIIH-p52 subunit
Journal of Clinical Investigation·2025· 2 citedOpen Access
Transient Dietary Intervention Induces Healthy Adipose Tissue Expansion and Metabolically Healthy Obesity in Mice
The FASEB Journal·2025· 3 citedOpen Access
Ritscher-Schinzel syndrome can be characterized as an endosomal recyclinopathy
Science Translational Medicine·2025· 3 cited
De novo CDKN1C variant in Beckwith–Wiedermann spectrum with atypical complications
Human Genome Variation·2025Open Access
Intrafamilial/interfamilial heterogeneity in hereditary hemorrhagic telangiectasia subtype 2 due to ACVRL1 variants
Dermatologica Sinica·2025Open Access
Paroxysmal Kinesigenic Dyskinesia in Two Siblings With Novel Heterozygous <scp><i>TMEM151A</i></scp> Frameshift Variant: The First Case Report in Japan
American Journal of Medical Genetics Part A·2025· 2 cited
Estimating the proportions of allele frequencies for <i>SERPINA12</i> pathogenic variants in Japanese patients with Nagashima-type palmoplantar keratosis/keratoderma
British Journal of Dermatology·2025Open Access
Clinical and molecular overlap between nucleotide excision repair (NER) disorders and DYRK1A haploinsufficiency syndrome
Frontiers in Neuroscience·2025Open Access
Novel FBN1 intron variant causes isolated ectopia lentis via in-frame exon skipping
Journal of Human Genetics·2025Open Access
WHOLE GENOME SEQUENCING ANALYSIS OF JAPANESE ASD TRIOS: UNRAVELING PATHOGENIC VARIANTS
The International Journal of Neuropsychopharmacology·2025Open Access
Loss of neuronal activity facilitates surface accumulation of p75NTR and cell death in avian cochlear nucleus
Neuroscience Research·2025Open Access
Prenatal inflammation impairs early CD11c-positive microglia induction and delays myelination in neurodevelopmental disorders
Communications Biology·2025· 7 citedOpen Access
Desulfovibrio falkowii sp. nov., Porphyromonas miyakawae sp. nov., Mediterraneibacter flintii sp. nov. and Owariibacterium komagatae gen. nov., sp. nov., isolated from human faeces
INTERNATIONAL JOURNAL OF SYSTEMATIC AND EVOLUTIONARY MICROBIOLOGY·2025· 1 cited
A Family with Patients Manifesting Different Phenotypes of Neuromuscular Disease Depending on the CGG Repeat Number in &lt;i&gt;LRP12&lt;/i&gt;
Internal Medicine·2025Open Access
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Frequent Co-authors

Yuka Nakazawa(21), Alan R. Lehmann(12), Norisato Mitsutake(9), Mayuko Shimada(8), Shunichi Yamashita(7), Haruo Ohmori(6), Chaowan Guo(6), Yuichiro Hara(5), Yasuyoshi Oka(5), Nan Jia(5), Heather Fawcett(5), Diana van den Heuvel(4), Martijn S. Luijsterburg(4), Michiko Matsuse(4), Penny A. Jeggo(4), Siripan Limsirichaikul(3), Okiru Komine(3), Koji Yamanaka(3), Miyako Tanaka(3), Takayoshi Suganami(3)