Naomichi Matsumoto
Yokohama City University(JP)
Publications by Year
Research Areas
Genetics and Neurodevelopmental Disorders, Genomics and Rare Diseases, Genomic variations and chromosomal abnormalities, RNA regulation and disease, Genetic Neurodegenerative Diseases
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
- → Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome(2006)598 cited
- → De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy(2008)541 cited
- → Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome(2012)519 cited
- → Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease(2019)499 cited