Masanori Fujimoto
Nagoya, Japan
Last Updated: 09/26/2026
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Found 10 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
Novel nonsense variant of KIF11 in a patient with MCLMR.
Journal: Human genome variation
Published: December 16, 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
Angelman syndrome with mosaic paternal uniparental disomy suggestive of mitotic nondisjunction.
Journal: Journal of human genetics
Published: July 25, 2022
Long-term follow-up of a patient with autosomal dominant lower extremity-predominant spinal muscular atrophy-2 due to a BICD2 variant.
Journal: Brain & development
Published: October 19, 2021
Utility of breakpoint-specific nested polymerase chain reaction for the diagnosis of Emanuel syndrome.
Journal: Pediatrics international : official journal of the Japan Pediatric Society
Published: December 03, 2020
Showing 1-10 of 10
Last Updated: 09/26/2026