Author

Kana Fukui

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· 1

Signature Assays, Organisms & Methods

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Research Focus:differential expression· 1 Organism:human· 1 Approach:statistical model· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

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

Activity by Year

2023-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Asuka HoriORCID

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1 paper

Recent·Most cited

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