Naomi Tsuchida

40PUBLICATIONS
161CO-AUTHORS
NeonatologyGene expression (incl. microarray and other genome-wide approaches)Genome structure and regulationNeurology and neuromuscular diseasesArtificial life and complex adaptive systems
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Publications (40)

|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

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

Qiaowei Liang, Yuri Uchiyama, Rie Seyama

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Frequent Collaborators

35 joint publications

Naomichi Matsumoto

33 joint publications

Yuri Uchiyama

27 joint publications

Takeshi Mizuguchi

27 joint publications

Satoko Miyatake