Ikumi Hori

Defects in autophagosome-lysosome fusion underlie Vici syndrome, a neurodevelopmental disorder with multisystem involvement

Ikumi Hori, Takanobu Otomo, Mitsuko Nakashima et al. · Scientific Reports · 2017 · 67 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

De novo variants in <i>SETD1B</i> cause intellectual disability, autism spectrum disorder, and epilepsy with myoclonic absences

Takuya Hiraide, Ayako Hattori, Daisuke Ieda et al. · Epilepsia Open · 2019 · 40 citations · Full text

Medicine, Molecular Genetics, Neuroscience +16

Schaaf-Yang syndrome shows a Prader-Willi syndrome-like phenotype during infancy

Yutaka Negishi, Daisuke Ieda, Ikumi Hori et al. · Orphanet Journal of Rare Diseases · 2019 · 35 citations · Full text

Life Sciences, Genetics, Molecular Genetics +10

Novel splicing mutation in the <i>ASXL3</i> gene causing Bainbridge–Ropers syndrome

Ikumi Hori, Fuyuki Miya, Kei Ohashi et al. · American Journal of Medical Genetics Part A · 2016 · 34 citations

Life Sciences, Genetics, Molecular Genetics +15

Truncating mutation in NFIA causes brain malformation and urinary tract defects

Yutaka Negishi, Fuyuki Miya, Ayako Hattori et al. · Human Genome Variation · 2015 · 32 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13