Rika Kosaki
National Center For Child Health and Development(JP)
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Prenatal Screening and Diagnostics, Genetic Syndromes and Imprinting, Epigenetics and DNA Methylation, Genetics and Neurodevelopmental Disorders
Most-Cited Works
- Overproduction of hyaluronan by expression of the hyaluronan synthase Has2 enhances anchorage-independent growth and tumorigenicity.(1999)
- → Characterization and Mutation Analysis of Human LEFTY A and LEFTY B, Homologues of Murine Genes Implicated in Left-Right Axis Development(1999)209 cited
- → Phenotypic spectrum of CHARGE syndrome with CHD7 mutations(2006)166 cited
- → Temple syndrome: comprehensive molecular and clinical findings in 32 Japanese patients(2017)139 cited
- → Mutations in B3GALT6, which Encodes a Glycosaminoglycan Linker Region Enzyme, Cause a Spectrum of Skeletal and Connective Tissue Disorders(2013)135 cited
- → Mutations in SERPINB7, Encoding a Member of the Serine Protease Inhibitor Superfamily, Cause Nagashima-type Palmoplantar Keratosis(2013)134 cited
- → PTPN11(Protein-Tyrosine Phosphatase, Nonreceptor-Type 11) Mutations in Seven Japanese Patients with Noonan Syndrome