Ryoko Fukai

机构：IQVIA (United Kingdom), Yokohama City University

发表论文 38 篇 · 总被引 1184 次 · h-index 18

代表论文

• Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Disorder (2018 · Cell Reports · 被引 188)
• GGC Repeat Expansion of NOTCH2NLC in Adult Patients with Leukoencephalopathy (2019 · Annals of Neurology · 被引 122)
• Biallelic TBCD Mutations Cause Early-Onset Neurodegenerative Encephalopathy (2016 · The American Journal of Human Genetics · 被引 67)
• Matrin 3 Is a Component of Neuronal Cytoplasmic Inclusions of Motor Neurons in Sporadic Amyotrophic Lateral Sclerosis (2017 · American Journal Of Pathology · 被引 50)
• De novo KCNH1 mutations in four patients with syndromic developmental delay, hypotonia and seizures (2016 · Journal of Human Genetics · 被引 47)
• Panventriculomegaly with a wide foramen of Magendie and large cisterna magna (2015 · Journal of neurosurgery · 被引 47)