Author

Tomoko Kawai

National Research Institute for Child Health and DevelopmentORCID 0000-0001-8137-0334Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2 Genetics· 1

Signature Assays, Organisms & Methods

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Research Focus:differential expression· 3 Approach:statistical model· 3 Assay:DNA methylation· 2 Organism:human· 2 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Organism:mouse· 1 Assay:proteomics· 1

Frequent Co-Authors

Kazuhiko NakabayashiiD· 2 shared Kenichiro HataiD· 2 shared Arisa IgarashiiD· 1 shared Asuka HoriiD· 1 shared Eriko Onishi· 1 shared Fumio TakadaiD· 1 shared Fuyuki Hasegawa· 1 shared Haruhiko SagoiD· 1 shared

Activity by Year

2023-2026 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 24 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Kazuhiko NakabayashiORCID

Mutual co-authors in cluster

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3 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintOct 27, 2026

CREBBP variants underlying Menke-Hennekam syndrome exhibit histone acetyltransferase hyperactivity with divergent phase behaviors

Taiga Aoki, Yasuyuki Fukuhara, Tetsumin So…·Tadashi Kaname

This study identifies two CREBBP variants causing Menke-Hennekam syndrome that increase HAT activity but disrupt phase separation differently, with HAT inhibition restoring condensate dynamics in one variant.

DOI 10.64898/2026.10.26.26365886

humanDNA methylation

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Genetic & Genomic MedicinemedRxivPreprintFeb 5, 2023

Re-evaluation of whole exome sequencing, including intronic region, in combination with genetic intolerance score for foetal structural anomalies, is helpful for diagnosis, especially in X-linked disorders

Kosuke Taniguchi, Fuyuki Hasegawa, Yuka Okazaki…·Kenichiro Hata

This study improves diagnostic yield in fetal structural anomalies using whole exome sequencing by re-evaluating variants, including introns, with LOEUF scores, particularly for X-linked disorders.

2 citations

humanwhole-exome sequencing

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GeneticsbioRxivPreprintJan 6, 2023

DNA methylation signature in NSD2 loss-of-function variants appeared similar to that in Wolf-Hirschhorn syndrome

Tomoko Kawai, Shiori Kinoshita, Yuka Takayama…·Kenichiro Hata

The paper identifies DNA methylation signatures associated with NSD2 loss-of-function variants and shows their similarity to those in Wolf-Hirschhorn syndrome.

1 citation

mouseDNA methylation

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