Kiyomi Nishiyama
NTT Medical Center(JP)
Publications by Year
Research Areas
Genetics and Neurodevelopmental Disorders, RNA regulation and disease, Genomics and Rare Diseases, Genomic variations and chromosomal abnormalities, Cellular transport and secretion
Most-Cited Works
- → De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy(2008)541 cited
- → De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood(2013)471 cited
- → De Novo Mutations in GNAO1, Encoding a Gαo Subunit of Heterotrimeric G Proteins, Cause Epileptic Encephalopathy(2013)231 cited
- → Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation(2013)223 cited
- → Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome(2013)196 cited
- → Ethylene regulation of fruit softening and cell wall disassembly in Charentais melon(2007)185 cited
- → Phenotypic Spectrum of COL4A1 Mutations: Porencephaly to Schizencephaly(2012)171 cited
- → Mutations in POLR3A and POLR3B Encoding RNA Polymerase III Subunits Cause an Autosomal-Recessive Hypomyelinating Leukoencephalopathy(2011)170 cited
- → Early onset epileptic encephalopathy caused by de novo SCN8A mutations(2014)169 cited
- → STXBP1 mutations in early infantile epileptic encephalopathy with suppression‐burst pattern(2010)155 cited