Shinji Saitoh

64PUBLICATIONS
202CO-AUTHORS
NeurogeneticsGene and molecular therapyEpigenetics (incl. genome methylation and epigenomics)Medical infection agents (incl. prions)Human impacts of climate change and human adaptation
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Publications (64)

|Aug 27, 2026
Biallelic VPS41 Variants in Autosomal Recessive Spinocerebellar Ataxia 29 Resolved by Long-Read Sequencing and RNA Analysis.

|Apr 14, 2026
Long-read RNA sequencing reveals extensive transcript isoform changes in a patient with IFAP syndrome with a recurrent intronic MBTPS2 variant.

Toshihiko Iwaki, Yosuke Nishio, Sachiyo Takagi

|Mar 30, 2026
Pathogenic variants in the cohesin loader subunit MAU2 underlie a distinct Cornelia de Lange Syndrome subtype.

Ilaria Parenti, Alina Hesters, Marta Gil-Salvador

|Mar 02, 2026
Novel nonsense variant of KIF11 in a patient with MCLMR.

Yuko Ozaki, Kyoko Yokoi, Yasuhisa Nakamura

|Feb 26, 2026
Investigating Roles of Cerebral Blood Flow to Maintain Thermal Stability of Neonatal Brain Against Cold Stress Using Non-Invasive Probes for Brain Perfusion and Temperature Gradient.

Sachiko Iwata, Kennosuke Tsuda, Masahiro Kinoshita

|Dec 24, 2025
Temporal Changes in Brain Light Scattering and Its Independent Variables Within 2 Days of Life.

Kennosuke Tsuda, Sachiko Iwata, Shinji Saitoh

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Frequent Collaborators

10 joint publications

Michihiro Kamijima

10 joint publications

Osuke Iwata

9 joint publications

Mayumi Sugiura-Ogasawara

9 joint publications

Takeshi Ebara