Naomi Tsuchida

Yokohama, Japan

Last Updated: 09/26/2026

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Found 96 publications

An N-terminal CDC42 T43I variant reveals the mechanism of pyrin inflammasome activation.

An N-terminal CDC42 T43I variant reveals the mechanism of pyrin inflammasome activation.

Journal: Science immunology

Published: August 07, 2026

Cleidocranial dysplasia caused by a novel de novo RUNX2 splice-site variant.

Cleidocranial dysplasia caused by a novel de novo RUNX2 splice-site variant.

Journal: Human genome variation

Published: April 21, 2026

Correction: Novel compound heterozygous ABCA2 variants cause IDPOGSA, a variable phenotypic syndrome with intellectual disability.

Correction: Novel compound heterozygous ABCA2 variants cause IDPOGSA, a variable phenotypic syndrome with intellectual disability.

Journal: Journal of human genetics

Published: November 09, 2025

Monoallelic and biallelic RNU4-2 variants in neurodevelopmental disorders.

Monoallelic and biallelic RNU4-2 variants in neurodevelopmental disorders.

Journal: Journal of human genetics

Published: October 27, 2025

Biallelic variants in TNR cause neurodevelopmental disorders with variable expressivity.

Biallelic variants in TNR cause neurodevelopmental disorders with variable expressivity.

Journal: Journal of human genetics

Published: September 08, 2025

Long-read genomic analyses to elucidate hidden structural variations associated with MECP2 duplication syndrome.

Long-read genomic analyses to elucidate hidden structural variations associated with MECP2 duplication syndrome.

Journal: Journal of human genetics

Published: September 06, 2025

Completely resolved structural variants by optical genome mapping with adaptive sampling from CNV discovery.

Completely resolved structural variants by optical genome mapping with adaptive sampling from CNV discovery.

Journal: NPJ genomic medicine

Published: August 14, 2025

Biallelic TSEN2 variants causing pontocerebellar hypoplasia type 2.

Biallelic TSEN2 variants causing pontocerebellar hypoplasia type 2.

Journal: Journal of human genetics

Published: August 01, 2025

Comparative effectiveness and safety of peficitinib and abatacept for rheumatoid arthritis: a multicentre, inverse probability weighting analysis.

Comparative effectiveness and safety of peficitinib and abatacept for rheumatoid arthritis: a multicentre, inverse probability weighting analysis.

Journal: Modern rheumatology

Published: July 28, 2025

A practical framework for predicting splicing single nucleotide variants in exome sequencing.

A practical framework for predicting splicing single nucleotide variants in exome sequencing.

Journal: NAR genomics and bioinformatics

Published: July 15, 2025

High glucocorticoid dependency and limited therapeutic response in Japanese patients with VEXAS syndrome: a multicentre retrospective study.

High glucocorticoid dependency and limited therapeutic response in Japanese patients with VEXAS syndrome: a multicentre retrospective study.

Journal: Modern rheumatology

Published: July 01, 2025

A CASE OF VACUOLES, E1 ENZYME, X-LINKED, AUTOINFLAMMATORY, SOMATIC (VEXAS) SYNDROME PRESENTING WITH DIVERSE PULMONARY LESIONS OVER TIME

A CASE OF VACUOLES, E1 ENZYME, X-LINKED, AUTOINFLAMMATORY, SOMATIC (VEXAS) SYNDROME PRESENTING WITH DIVERSE PULMONARY LESIONS OVER TIME

Journal: Arerugi = [Allergy]

Published: June 11, 2025

Showing 1-12 of 96

Last Updated: 09/26/2026