Kyoko Takano

Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders

Erfan Aref‐Eshghi, Jennifer Kerkhof, Victor P. Pedro et al. · The American Journal of Human Genetics · 2020 · 334 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

A missense mutation in <i>CLIC2</i> associated with intellectual disability is predicted by <i>in silico</i> modeling to affect protein stability and dynamics

Shawn Witham, Kyoko Takano, Charles E. Schwartz et al. · Proteins Structure Function and Bioinformatics · 2011 · 104 citations

Life Sciences, Genetics, Molecular Genetics +15

An X-linked channelopathy with cardiomegaly due to a CLIC2 mutation enhancing ryanodine receptor channel activity

Kyoko Takano, Dan Liu, Patrick Tarpey et al. · Human Molecular Genetics · 2012 · 94 citations

Life Sciences, Cardiology, Genetics +17

Two percent of patients suspected of having Angelman syndrome have <i>TCF4</i> mutations

Kyoko Takano, Michael J. Lyons, C. D. Moyes et al. · Clinical Genetics · 2010 · 88 citations

Life Sciences, Genetics, Molecular Genetics +8

Application of Magnetoencephalography in Epilepsy Patients with Widespread Spike or Slow‐wave Activity

Hideaki Shiraishi, Seppo P. Ahlfors, Steven M. Stufflebeam et al. · Epilepsia · 2005 · 72 citations · Full text

Medicine, Neurology, Neuroscience +17