Takahito Wada
Kyoto University(JP)Kyoto University Hospital(JP)
Publications by Year
Research Areas
Genetics and Neurodevelopmental Disorders, Epigenetics and DNA Methylation, Prenatal Screening and Diagnostics, Metabolism and Genetic Disorders, Genetic Syndromes and Imprinting
Most-Cited Works
- → Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome(2013)196 cited
- → Mutations in the chromatin-associated protein ATRX(2008)184 cited
- → Phenotypic Spectrum of COL4A1 Mutations: Porencephaly to Schizencephaly(2012)171 cited
- → Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach(2011)160 cited
- → STXBP1 mutations in early infantile epileptic encephalopathy with suppression‐burst pattern(2010)155 cited
- → Targeting G-quadruplex DNA as cognitive function therapy for ATR-X syndrome(2018)92 cited
- → Human HRD1 Promoter Carries a Functional Unfolded Protein Response Element to Which XBP1 but not ATF6 Directly Binds