Emi Sato
Nagoya, Japan
Last Updated: 09/26/2026
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Found 11 publications
Long-read RNA sequencing reveals extensive transcript isoform changes in a patient with IFAP syndrome with a recurrent intronic MBTPS2 variant.
Journal: Human genome variation
Published: December 17, 2025
Brain organoid models of SZT2-related disease reveal an overproduction of outer radial glial cells through mTORC1 activation.
Journal: Scientific reports
Published: August 31, 2025
Genotype-phenotype correlation over time in Angelman syndrome: Researching 134 patients.
Journal: HGG advances
Published: April 01, 2024
Novel SPEG variants in a neonate with severe dilated cardiomyopathy and relatively mild hypotonia.
Journal: Human genome variation
Published: July 02, 2023
Biallelic null variants in PNPLA8 cause microcephaly by reducing the number of basal radial glia.
Journal: Brain : a journal of neurology
Published: May 18, 2023
Correction: Angelman syndrome with mosaic paternal uniparental disomy suggestive of mitotic nondisjunction.
Journal: Journal of human genetics
Published: December 01, 2022
A case of non-immune hydrops fetalis with maternal mirror syndrome diagnosed by trio-based exome sequencing: An autopsy case report and literature review.
Journal: Molecular genetics and metabolism reports
Published: July 29, 2022
Angelman syndrome with mosaic paternal uniparental disomy suggestive of mitotic nondisjunction.
Journal: Journal of human genetics
Published: July 25, 2022
Introduction of precordial Doppler ultrasound to confirm correct peripheral venous access during general anesthesia in children: A preliminary study.
Journal: PloS one
Published: December 27, 2020
Isolation and characterization of mutants defective in the localization of LCIB, an essential factor for the carbon-concentrating mechanism in Chlamydomonas reinhardtii.
Journal: Photosynthesis research
Published: November 15, 2013
Showing 1-11 of 11
Last Updated: 09/26/2026