Yuri Uchiyama

48PUBLICATIONS
188CO-AUTHORS
Medical infection agents (incl. prions)Gene expression (incl. microarray and other genome-wide approaches)Genome structure and regulationNeurology and neuromuscular diseasesEpigenetics (incl. genome methylation and epigenomics)
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Publications (48)

|Aug 07, 2026
SLF2 and SMC5 dysfunction drives HSC aging and predisposes to MDS, defining a new inherited bone marrow failure syndrome.

|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

|Oct 09, 2025
High glucocorticoid dependency and limited therapeutic response in Japanese patients with VEXAS syndrome: a multicentre retrospective study.

Ayaka Maeda, Yohei Kirino, Naomi Tsuchida

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Frequent Collaborators

42 joint publications

Naomichi Matsumoto

33 joint publications

Naomi Tsuchida

29 joint publications

Satoko Miyatake

29 joint publications

Takeshi Mizuguchi