Tohru Ohta
Health Sciences University of Hokkaido(JP)
Publications by Year
Research Areas
Genetic Syndromes and Imprinting, Genomic variations and chromosomal abnormalities, Epigenetics and DNA Methylation, Geological and Geochemical Analysis, Hydrocarbon exploration and reservoir analysis
Most-Cited Works
- → Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome(2010)1,346 cited
- → Haploinsufficiency of NSD1 causes Sotos syndrome(2002)655 cited
- → Heterozygous TGFBR2 mutations in Marfan syndrome(2004)613 cited
- → Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome(2012)519 cited
- → Statistical empirical index of chemical weathering in igneous rocks: A new tool for evaluating the degree of weathering(2007)363 cited
- → A SNP in the ABCC11 gene is the determinant of human earwax type(2006)294 cited
- → Imprinting-Mutation Mechanisms in Prader-Willi Syndrome