Yoriko Watanabe

8PUBLICATIONS
48CO-AUTHORS
Aerospace materialsGenomicsEpigenetics (incl. genome methylation and epigenomics)Cardiology (incl. cardiovascular diseases)Food properties (incl. characteristics and health benefits)
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Publications (8)

|Aug 11, 2026
Two Japanese Cases Highlighting Structural and Phenotypic Overlap in AGO1- and AGO2-Related Neurodevelopmental Disorders.

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

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

Naoto Nishimura, Takeshi Mizuguchi, Keisuke Hamada

|Feb 27, 2024
The c.1617del variant of TMEM260 is identified as the most frequent single gene determinant for Japanese patients with a specific type of congenital heart disease.

Tadashi Inoue, Ryuta Takase, Keiko Uchida

|Sep 28, 2021
Food Preferences of Patients with Citrin Deficiency.

Miki Okamoto, Yoshiyuki Okano, Mai Okano

|Dec 23, 2020
Digenic mutations in ALDH2 and ADH5 impair formaldehyde clearance and cause a multisystem disorder, AMeD syndrome.

Yasuyoshi Oka, Motoharu Hamada, Yuka Nakazawa

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Frequent Collaborators

5 joint publications

Koh-Ichiro Yoshiura

2 joint publications

Naomichi Matsumoto

2 joint publications

Uradzislau Korzun

2 joint publications

Hiroyuki Akagawa