Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Yasuhiro Utsuno

5PUBLICATIONS
22CO-AUTHORS
Gene expression (incl. microarray and other genome-wide approaches)Genome structure and regulationMedical biochemistry - inorganic elements and compoundsNeurosciences not elsewhere classifiedNeurology and neuromuscular diseases
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Journal

Publications (5)

Sort by Publication Date:
|Dec 22, 2025
A practical framework for predicting splicing single nucleotide variants in exome sequencing.

Yasuhiro Utsuno, Kohei Hamanaka, Masamune Sakamoto

|Dec 17, 2025
Monoallelic and biallelic RNU4-2 variants in neurodevelopmental disorders.

Yukina Hayashi, Kenta Kajiwara, Seiji Mizuno

|Nov 27, 2023
Novel missense variants cause intermediate phenotypes in the phenotypic spectrum of SLC5A6-related disorders.

Yasuhiro Utsuno, Keisuke Hamada, Kohei Hamanaka

|Mar 09, 2023
Publisher Correction: A novel NONO variant that causes developmental delay and cardiac phenotypes.

Toshiyuki Itai, Atsushi Sugie, Yohei Nitta

|Jan 18, 2023
A novel NONO variant that causes developmental delay and cardiac phenotypes.

Toshiyuki Itai, Atsushi Sugie, Yohei Nitta

Pageof 1

Frequent Collaborators

5 joint publications

Naomichi Matsumoto

5 joint publications

Yuri Uchiyama

5 joint publications

Naomi Tsuchida

5 joint publications

Takeshi Mizuguchi

5 joint publications

Satoko Miyatake

3 joint publications

Eriko Koshimizu

3 joint publications

Kazuharu Misawa

2 joint publications

Atsushi Sugie

2 joint publications

Yoichi Shinkai

2 joint publications

Yusuke Nakano

Frequent Collaborators

5 joint publications

Naomichi Matsumoto

5 joint publications

Yuri Uchiyama

5 joint publications

Naomi Tsuchida

5 joint publications

Takeshi Mizuguchi

Top Related Videos

Using RNA-sequencing to Detect Novel Splice Variants Related to Drug Resistance in <em>In Vitro</em> Cancer Models
09:58

Using RNA-sequencing to Detect Novel Splice Variants Related to Drug Resistance in <em>In Vitro</em> Cancer Models

Published on : Dec 09, 2016

14.3K
In Vivo Functional Study of Disease-associated Rare Human Variants Using <em>Drosophila</em>
06:41

In Vivo Functional Study of Disease-associated Rare Human Variants Using <em>Drosophila</em>

Published on : Aug 20, 2019

14.2K
See more related videos

Top Related Videos

Using RNA-sequencing to Detect Novel Splice Variants Related to Drug Resistance in <em>In Vitro</em> Cancer Models
09:58

Using RNA-sequencing to Detect Novel Splice Variants Related to Drug Resistance in <em>In Vitro</em> Cancer Models

Published on : Dec 09, 2016

14.3K
In Vivo Functional Study of Disease-associated Rare Human Variants Using <em>Drosophila</em>
06:41

In Vivo Functional Study of Disease-associated Rare Human Variants Using <em>Drosophila</em>

Published on : Aug 20, 2019

14.2K
See more related videos