Sachiko Miyamoto
14PUBLICATIONS
22CO-AUTHORS
Get your video featured.
Publish with JoVEGet your video featured.
Publish with JoVE
Publications (14)
Sort by Publication Date:
|Mar 25, 2026
Genetic diagnosis of sibling cases initiated by identification of outlier gene expression using transcriptome analysis of urine-derived cells.Toru Takagi, Sachiko Miyamoto, Kenji Shimizu
|Jan 06, 2026
Identification of 5' untranslated region variants in genes involved in neurodevelopmental disorders.Taiju Hayashi, Sachiko Miyamoto, Yusaku Endo
|Jun 29, 2025
Compound heterozygous ZNF335 variants in a patient with microcephaly, refractory epilepsy, and severe developmental delay: A case report and literature review.Kaori Yamoto, Sachiko Miyamoto, Kosuke Yamada
|Dec 02, 2024
Homozygous Microdeletion Involving Exon 1 of ERCC8 and NDUFAF2 With Uniparental Isodisomy of Chromosome 5.Kaori Yamoto, Kosuke Yamada, Kenji Shimizu
|Dec 15, 2023
RNA sequencing and target long-read sequencing reveal an intronic transposon insertion causing aberrant splicing.Ryota Kawakami, Takuya Hiraide, Kazuki Watanabe
|Mar 09, 2023
A deep intronic TCTN2 variant activating a cryptic exon predicted by SpliceRover in a patient with Joubert syndrome.Takuya Hiraide, Kenji Shimizu, Yoshinori Okumura
Pageof 3
Frequent Collaborators
13 joint publications
Hirotomo Saitsu
8 joint publications
Mitsuko Nakashima
7 joint publications
Takuya Hiraide
5 joint publications
Kenji Shimizu
4 joint publications
Tsutomu Ogata
2 joint publications
Kaori Yamoto
2 joint publications
Mitsuhiro Kato
2 joint publications
Tokiko Fukuda
1 joint publications
Shogo Furukawa
1 joint publications
Jun-Ichi Takanashi
