Nagoya University · Research Institute of Environmental Medicine · 助教

Research keywordspediatric neurogenetics・congenital myasthenic syndrome・long-read RNA sequencing・rare disease genomics・splice site variants・neuromuscular disorders・Cornelia de Lange syndrome・ectopia lentis

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• Pathogenic variants in the cohesin loader subunit MAU2 underlie a distinct Cornelia de Lange Syndrome subtype2026 · NATURE COMMUNICATIONS 17 巻 ( 1 ) 2026年3月
• Compound heterozygous CHAT gene mutations, a missense and a splice site variant, in two siblings with congenital myasthenic syndrome2026 · SCIENTIFIC REPORTS 16 巻 ( 1 ) 2026年2月
• Long-read RNA sequencing reveals extensive transcript isoform changes in a patient with IFAP syndrome with a recurrent intronic MBTPS2 variant.2026 · Human genome variation 2026年4月
• Pathophysiological significance of the p.E31G variant in RAC1 responsible for a neurodevelopmental disorder with microcephaly2025 · BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE 1871 巻 ( 1 ) 頁： 167520 2025年1月

• レトリーバー複合体機能不全による神経変性疾患の病態解析1922 · 研究課題/研究課題番号： 25K19225 2025年4月 - 2028年3月

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