Takeshi Mizuguchi

39PUBLICATIONS
178CO-AUTHORS
Gene expression (incl. microarray and other genome-wide approaches)Genome structure and regulationNeurology and neuromuscular diseasesEpigenetics (incl. genome methylation and epigenomics)Genetically modified horticulture plants
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Journal

Publications (39)

|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 13, 2025
Biallelic variants in TNR cause neurodevelopmental disorders with variable expressivity.

Atsuhiro Ozaki, Masamune Sakamoto, Satoko Kumada

|Nov 06, 2025
Long-read genomic analyses to elucidate hidden structural variations associated with MECP2 duplication syndrome.

Qiaowei Liang, Yuri Uchiyama, Rie Seyama

|Aug 26, 2025
Biallelic TSEN2 variants causing pontocerebellar hypoplasia type 2.

Yukina Hayashi, Keisuke Hamada, Kavitha Rethanavelu

|Jul 10, 2025
Diverse Clinical Phenotypes of Neuronal Intranuclear Inclusion Disease in South Korea.

Min Young Chun, Sang Won Seo, Hyemin Jang

Pageof 7

Frequent Collaborators

36 joint publications

Naomichi Matsumoto

29 joint publications

Yuri Uchiyama

29 joint publications

Satoko Miyatake

27 joint publications

Naomi Tsuchida