Naomi Tsuchida

41PUBLICATIONS
192CO-AUTHORS
AutoimmunityNeonatologyGene expression (incl. microarray and other genome-wide approaches)Genome structure and regulationNeurology and neuromuscular diseases
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Publications (41)

|Aug 07, 2026
An N-terminal CDC42 T43I variant reveals the mechanism of pyrin inflammasome activation.

|Jun 04, 2026
Cleidocranial dysplasia caused by a novel de novo RUNX2 splice-site variant.

|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

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Frequent Collaborators

36 joint publications

Naomichi Matsumoto

33 joint publications

Yuri Uchiyama

28 joint publications

Satoko Miyatake

27 joint publications

Takeshi Mizuguchi