Ayumi Matsumoto
Tochigi, Japan
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 41 publications
Localization system for urban search and rescue using smartphone microphones.
Journal: JASA express letters
Published: January 30, 2026
Adult-Onset Neurological Deterioration in Dravet Syndrome Associated With a Novel SCN1A Missense Variant (p.Gly1371Asp): A Case Report.
Journal: Cureus
Published: September 25, 2025
Compound heterozygous variants of CACNA1H change channel properties and contribute to intractable epilepsy with myoclonic-atonic seizures.
Journal: Journal of human genetics
Published: September 06, 2025
Partial monosomy 18p and 21q due to a paternal reciprocal translocation leading to holoprosencephaly.
Journal: Human genome variation
Published: February 14, 2025
An unstable variant of GAP43 leads to neurodevelopmental deficiency.
Journal: Scientific reports
Published: September 06, 2024
Correction to: NSPlex: an efficient method to analyze non‑specific peaks amplified using commercial STR kits.
Journal: International journal of legal medicine
Published: May 16, 2024
Unfavorable switching of skewed X chromosome inactivation leads to Menkes disease in a female infant.
Journal: Scientific reports
Published: October 05, 2023
Investigation of the efficacy and adverse effects of lacosamide over 36 months.
Journal: Epilepsy & behavior : E&B
Published: February 21, 2023
NSPlex: an efficient method to analyze non-specific peaks amplified using commercial STR kits.
Journal: International journal of legal medicine
Published: January 25, 2023
Molecular diagnosis of 405 individuals with autism spectrum disorder.
Journal: European journal of human genetics : EJHG
Published: December 11, 2022
Lack of GPR180 ameliorates hepatic lipid depot via downregulation of mTORC1 signaling.
Journal: Scientific reports
Published: August 09, 2022
Last Updated: 09/26/2026