Ryoko Fukai

Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Disorder

Atsushi Takata, Noriko Miyake, Yoshinori Tsurusaki et al. · Cell Reports · 2018 · 179 citations · Full text

Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay

Hirotomo Saitsu, Ryoko Fukai, Bruria Ben‐Zeev et al. · European Journal of Human Genetics · 2015 · 123 citations · Full text

Epileptic Encephalopathy, Gnao1 Variants, Neurological Disorder +9

GGC Repeat Expansion of <i>NOTCH2NLC</i> in Adult Patients with Leukoencephalopathy

Masaki Okubo, Hiroshi Doi, Ryoko Fukai et al. · Annals of Neurology · 2019 · 116 citations

Biallelic TBCD Mutations Cause Early-Onset Neurodegenerative Encephalopathy

Noriko Miyake, Ryoko Fukai, Chihiro Ohba et al. · The American Journal of Human Genetics · 2016 · 64 citations · Full text

Neurodegenerative Diseases, Neurological Disorder, Degenerative Disease +5

Detecting copy-number variations in whole-exome sequencing data using the eXome Hidden Markov Model: an ‘exome-first’ approach

Satoko Miyatake, Eriko Koshimizu, Atsushi Fujita et al. · Journal of Human Genetics · 2015 · 62 citations · Full text

Sequencing, Engineering, Whole-exome Sequencing Data +12