Yo Niida

24PUBLICATIONS
46CO-AUTHORS
Crime and social justiceGene expression (incl. microarray and other genome-wide approaches)Medical virologyGenomics and transcriptomicsEpigenetics (incl. genome methylation and epigenomics)
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Publications (24)

|Sep 13, 2026
Dual Aberrant Splicing Caused by an Apparently Missense CHD7 Variant, c.5273A>G (p.Asp1758Gly), in CHARGE Syndrome.

|Jun 09, 2026
Integrated targeted whole-genome and RNA-sequencing analysis of an intronic GNE variant in GNE myopathy.

|Dec 02, 2025
A Case of Multifocal Venous Malformation With Two Somatic Pathogenic Variants in the TEK Gene.

Sawako Ochiai, Hiroto Ono, Akira Shimizu

|Apr 17, 2025
Computational Comparison of Differential Splicing Tools for Targeted RNA Long-Amplicon Sequencing (rLAS).

Hiroki Ura, Hisayo Hatanaka, Sumihito Togi

|Feb 26, 2025
Integrated Analysis of Somatic DNA Variants and DNA Methylation of Tumor Suppressor Genes in Colorectal Cancer.

Hisashi Nishiki, Hiroki Ura, Sumihito Togi

|Feb 24, 2025
Clinical and Molecular Genetic Analyses of a Girl With Isolated Nephrogenic Diabetes Insipidus due to Contiguous Gene Deletion Involving AVPR2 and L1CAM.

Shoma Saito, Shigeru Suzuki, Kengo Izumi

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Frequent Collaborators

16 joint publications

Hiroki Ura

11 joint publications

Sumihito Togi

3 joint publications

Akira Shimizu

3 joint publications

Hiroto Ono