Takeshi Mizuguchi

39PUBLICATIONS
178CO-AUTHORS
Gene expression (incl. microarray and other genome-wide approaches)Genome structure and regulationNeurology and neuromuscular diseasesArtificial life and complex adaptive systemsEpigenetics (incl. genome methylation and epigenomics)
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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 09, 2025
Correction: Novel compound heterozygous ABCA2 variants cause IDPOGSA, a variable phenotypic syndrome with intellectual disability.

Yuta Inoue, Naomi Tsuchida, Chong Ae Kim

|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

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Frequent Collaborators

36 joint publications

Naomichi Matsumoto

29 joint publications

Yuri Uchiyama

29 joint publications

Satoko Miyatake

27 joint publications

Naomi Tsuchida