Author

Yuka Okazaki

National Center For Child Health and Development

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

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Research Focus:differential expression· 2 Organism:human· 2 Approach:statistical model· 2 Research Focus:cell type annotation· 1 Approach:experimental assay· 1 Assay:scRNA-seq· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Haruhiko SagoiD· 2 shared Hiroko Ogata‐KawataiD· 2 shared Kazuhiko NakabayashiiD· 2 shared Kenichiro HataiD· 2 shared Kosuke TaniguchiiD· 2 shared Asuka HoriiD· 1 shared Fuyuki Hasegawa· 1 shared K. OkamuraiD· 1 shared

Activity by Year

2023-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Haruhiko SagoORCID

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2 papers

Recent·Most cited

Isolation of nucleated red blood cells with intact genomic DNA from cord blood by applying G&T-seq

Noriko Ito, Tatsuya Fujii, Kosuke Taniguchi, Yuka Okazaki, Hiroko Ogata‐Kawata, Haruhiko Sago, Kenichiro Hata, Kazuhiko Nakabayashi

The paper uses G&T-seq to isolate fetal nucleated red blood cells (fNRBCs) from cord blood and assesses their genomic integrity for noninvasive prenatal testing.

Reproductive Medicine and Biology · Jan 1, 2025Peer-reviewedGenetic & Genomic Medicine

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, Asuka Hori, Hiroko Ogata‐Kawata, Saki Aoto, Osuke Migita, Tomoko Kawai, Kazuhiko Nakabayashi, K. Okamura, Kana Fukui, Seiji Wada, Katsusuke OZAWA, Yushi Ito, Haruhiko Sago, 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.

medRxiv · Feb 5, 2023 · PreprintGenetic & Genomic Medicine