Koh-Ichiro Yoshiura

14PUBLICATIONS
69CO-AUTHORS
Cancer geneticsPsychosocial aspects of childbirth and perinatal mental healthGenomicsCell and nuclear divisionEpigenetics (incl. genome methylation and epigenomics)
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Journal

Publications (14)

|Aug 13, 2026
Muir-Torre Syndrome Associated With a Cryptic Intronic MSH2 Variant Identified via Whole-Genome Sequencing: A Case Report.

|Aug 12, 2026
Identification of gestational-age-dependent cell-free fetal mRNA transcriptional changes in human amniotic fluid.

|Jun 22, 2026
A trio-based long-read sequencing workflow identifies a pathogenic transposable element insertion in a previously undiagnosed patient.

|Jan 13, 2026
Maternal copy number variations detected by noninvasive prenatal testing in Japanese women.

Kaku Masuda, Hiroyuki Mishima, Koh-Ichiro Yoshiura

|May 02, 2025
Hemizygous SMARCA1 variants cause X-linked intellectual disability.

Naoto Nishimura, Takeshi Mizuguchi, Keisuke Hamada

|Jul 16, 2024
Heterozygous mutations in the straitjacket region of the latency-associated peptide domain of TGFB2 cause Camurati-Engelmann disease type II.

Zheng Wang, Mitsuhiro Kometani, Leonid Zeitlin

Pageof 3

Frequent Collaborators

9 joint publications

Hiroyuki Mishima

5 joint publications

Yoriko Watanabe

3 joint publications

Kiyonori Miura

2 joint publications

Uradzislau Korzun