Naohiro Kurotaki
Nagasaki University(JP)
Publications by Year
Research Areas
Genetics and Neurodevelopmental Disorders, Genomics and Rare Diseases, Genetic Syndromes and Imprinting, Genomic variations and chromosomal abnormalities, Congenital heart defects research
Most-Cited Works
- → Haploinsufficiency of NSD1 causes Sotos syndrome(2002)655 cited
- → Fifty microdeletions among 112 cases of Sotos syndrome: Low copy repeats possibly mediate the common deletion(2003)137 cited
- → Nonsense mutation in CFAP43 causes normal-pressure hydrocephalus with ciliary abnormalities(2019)104 cited
- → Molecular characterization of NSD1, a human homologue of the mouse Nsd1 gene(2001)95 cited
- → Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions(2012)93 cited
- → Alu‐related 5q35 microdeletions in Sotos syndrome(2008)77 cited
- → Sotos syndrome common deletion is mediated by directly oriented subunits within inverted Sos-REP low-copy repeats(2005)68 cited
- → Missense mutations in the DNA-binding/dimerization domain of NFIX cause Sotos-like features(2012)64 cited
- → Preferential Paternal Origin of Microdeletions Caused by Prezygotic Chromosome or Chromatid Rearrangements in Sotos Syndrome(2003)52 cited
- → Phenotypic consequences of genetic variation at hemizygous alleles: Sotos syndrome is a contiguous gene syndrome incorporating coagulation factor twelve (FXII) deficiency(2005)51 cited