Daisuke Ieda
Nagoya, Japan
Last Updated: 09/26/2026
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Found 22 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
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
Hemorrhagic shock and encephalopathy syndrome in a patient with a de novo heterozygous variant in KIF1A.
Journal: Brain & development
Published: April 08, 2021
Peripheral nerves are involved in hypomyelinating leukodystrophy-3 caused by a homozygous AIMP1 variant.
Journal: Brain & development
Published: October 22, 2020
Two mouse models carrying truncating mutations in Magel2 show distinct phenotypes.
Journal: PloS one
Published: April 16, 2020
Schaaf-Yang syndrome shows a Prader-Willi syndrome-like phenotype during infancy.
Journal: Orphanet journal of rare diseases
Published: June 25, 2019
A novel CUL4B splice site variant in a young male exhibiting less pronounced features.
Journal: Human genome variation
Published: June 03, 2019
Last Updated: 09/26/2026