Atsuo Kikuchi
Tohoku University(JP)
Publications by Year
Research Areas
Metabolism and Genetic Disorders, Genetics and Neurodevelopmental Disorders, Genomics and Rare Diseases, RNA modifications and cancer, Epilepsy research and treatment
Most-Cited Works
- → A genome-wide association study identifies RNF213 as the first Moyamoya disease gene(2010)738 cited
- → Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment(2018)121 cited
- → Temporal profile of the vascular anatomy evaluated by 9.4-T magnetic resonance angiography and histopathological analysis in mice lacking RNF213: A susceptibility gene for moyamoya disease(2014)120 cited
- → Mutations in genes encoding the glycine cleavage system predispose to neural tube defects in mice and humans(2011)118 cited
- → Molecular Genetic Dissection and Neonatal/Infantile Intrahepatic Cholestasis Using Targeted Next-Generation Sequencing(2016)109 cited
- → Genomic analysis identifies masqueraders of full‐term cerebral palsy(2018)95 cited
- → De novo GABRA1 mutations in Ohtahara and West syndromes(2016)91 cited
- → Construction and integration of three de novo Japanese human genome assemblies toward a population-specific reference(2021)90 cited
- → Enhanced post-ischemic angiogenesis in mice lacking RNF213; a susceptibility gene for moyamoya disease(2014)73 cited
- → Genomic analysis identifies candidate pathogenic variants in 9 of 18 patients with unexplained West syndrome(2015)62 cited