Norio Niikawa
Hudson Institute(US)Health Sciences University of Hokkaido(JP)Sapporo University(JP)John Wiley & Sons (United States)(US)
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Genetic Syndromes and Imprinting, Prenatal Screening and Diagnostics, Epigenetics and DNA Methylation, Genomics and Rare Diseases
Most-Cited Works
- → The International HapMap Project(2003)6,157 cited
- → Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome(2010)1,346 cited
- → Mapping Human Genetic Diversity in Asia(2009)727 cited
- → Haploinsufficiency of NSD1 causes Sotos syndrome(2002)655 cited
- → Heterozygous TGFBR2 mutations in Marfan syndrome(2004)613 cited
- → Kabuki make-up syndrome: A syndrome of mentalretardation, unusual facies, large and protruding ears, and postnatal growth deficiency(1981)540 cited
- → ASC, a Novel 22-kDa Protein, Aggregates during Apoptosis of Human Promyelocytic Leukemia HL-60 Cells