Matsumoto, Naomichi

Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan

Title	Year	PMID
Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay.	2016	25966631
Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome.	2012	22426308
Mutations in POLR3A and POLR3B encoding RNA Polymerase III subunits cause an autosomal-recessive hypomyelinating leukoencephalopathy.	2011	22036171
Polymorphic alleles of the human MEI1 gene are associated with human azoospermia by meiotic arrest.	2006	16683055