Author

Kumiko Yanagi

National Center For Child Health and DevelopmentORCID 0000-0001-6961-0438Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genomics· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Research Focus:differential expression· 1 Assay:DNA methylation· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Approach:machine learning (classical)· 1 Assay:proteomics· 1 Approach:statistical model· 1

Frequent Co-Authors

Kenji KurosawaiD· 2 shared Tadashi KanameiD· 2 shared Arisa IgarashiiD· 1 shared Atsushi HijikataiD· 1 shared Eiji NanbaiD· 1 shared Hideo SasaiiD· 1 shared Junichi HosokawaiD· 1 shared Kaori AdachiiD· 1 shared

Activity by Year

2023-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 38 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Kenji KurosawaORCID

Mutual co-authors in cluster

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2 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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GenomicsNucleic Acids ResearchPeer-reviewedNov 14, 2023

Exome-wide benchmark of difficult-to-sequence regions using short-read next-generation DNA sequencing

Atsushi Hijikata, Mikita Suyama, Shingo Kikugawa…·Osamu Ohara

The paper benchmarks difficult-to-sequence regions in the human exome using machine learning and real-world NGS data from gnomAD to improve clinical sequencing accuracy.

14 citations

humanwhole-exome sequencing

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