Author

K. Okamura

National Center For Child Health and DevelopmentORCID 0000-0001-9747-5069Unclaimed ORCID profile · follow to get notified of new preprints

Additional preprints under this name without ORCID

K. Okamura4 papers

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 Organism:human· 3 Approach:statistical model· 3 Assay:bulk RNA-seq· 2 Approach:experimental assay· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Kazuhiko NakabayashiiD· 2 shared Akie NakamuraiD· 1 shared Akihiro UmezawaiD· 1 shared Asuka HoriiD· 1 shared Atsuhito SekiiD· 1 shared Atsushi HattoriiD· 1 shared Fuyuki Hasegawa· 1 shared Haruhiko SagoiD· 1 shared

Activity by Year

2021-2023 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 20 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Kazuhiko NakabayashiORCID

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3 papers

Recent·Most cited

Genetic & Genomic MedicineThe Journal of Clinical Endocrinology & MetabolismPeer-reviewedOct 25, 2023

Single-exon deletions of ZNRF3 exon 2 cause congenital adrenal hypoplasia

Naoko Amano, Satoshi Narumi, Katsuya Aizu…·Tomonobu Hasegawa

The paper identifies single-exon deletions in ZNRF3 exon 2 as a cause of congenital adrenal hypoplasia by disrupting Wnt/β-catenin signaling.

10 citations

humanbulk RNA-seq

𝕏 PostBluesky

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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GeneticsbioRxivPreprintAug 23, 2021

Pseudoautosomal gene SHOX exhibits sex-biased random monoallelic expression and contributes to sex difference in height

Atsushi Hattori, Atsuhito Seki, Naoto Inaba…·Maki Fukami

The paper identifies SHOX as a sex-biased gene with random monoallelic expression contributing to sex differences in height.

DOI 10.1101/2021.08.23.457290

humanbulk RNA-seq

𝕏 PostBluesky