Author

Yoshihiko Saito

National Center of Neurology and PsychiatryORCID 0000-0003-1643-4797Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

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Approach:experimental assay· 2 Organism:human· 2 Research Focus:variant calling· 2 Assay:DNA methylation· 1 Research Focus:gene regulatory network inference· 1 Research Focus:protein structure prediction· 1 Assay:proteomics· 1 Assay:spatial transcriptomics· 1

Frequent Co-Authors

Ichizo NishinoiD· 2 shared Alison RodgeriD· 1 shared Brian E. Mangilog· 1 shared Carmen ParadasiD· 1 shared Carsten G. BönnemanniD· 1 shared Chiaki MoriiD· 1 shared Chiara FiorilloiD· 1 shared Chiara L FollandiD· 1 shared

Activity by Year

2022-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 31 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Ichizo NishinoORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintOct 25, 2023

Biallelic variants in HMGCS1 are a novel cause of rare rigid spine syndrome

Lein Dofash, Lee B. Miles, Yoshihiko Saito…·Gianina Ravenscroft

This study identifies biallelic HMGCS1 variants as a novel cause of rigid spine syndrome, showing hypomorphic effects through functional and clinical analyses.

3 citations

humanzebrafish

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Genetic & Genomic MedicinemedRxivPreprintJun 24, 2022

Hypomethylation of contracted D4Z4 repeats in facioscapulohumeral muscular dystrophy

Yosuke Hiramuki, Yuriko Kure, Yoshihiko Saito…·Ichizo Nishino

This study uses Nanopore CRISPR/Cas9-targeted resequencing to diagnose FSHD by detecting D4Z4 repeat length and methylation status, finding significant hypomethylation in contracted repeats and its correlation with disease phenotype.

DOI 10.1101/2022.06.24.22276750

humanDNA methylation

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