Yoichi Matsubara

Research interests

Publications

• ZNF384 -related fusion genes define a subgroup of childhood B-cell precursor acute lymphoblastic leukemia with a characteristic immunotype

  Haematologica · 2016 · https://doi.org/10.3324/haematol.2016.151035

• Human genetic variation database, a reference database of genetic variations in the Japanese population

  Journal of Human Genetics · 2016 · https://doi.org/10.1038/jhg.2016.12

• Recent advances in RASopathies

  Journal of Human Genetics · 2015 · https://doi.org/10.1038/jhg.2015.114

• Gain-of-Function Mutations in RIT1 Cause Noonan Syndrome, a RAS/MAPK Pathway Syndrome

  The American Journal of Human Genetics · 2013 · https://doi.org/10.1016/j.ajhg.2013.05.021

• MLL2 and KDM6A mutations in patients with Kabuki syndrome

  American Journal of Medical Genetics Part A · 2013 · https://doi.org/10.1002/ajmg.a.36072

• Homozygous c.14576G>A variant of RNF213 predicts early-onset and severe form of moyamoya disease

  Neurology · 2012 · https://doi.org/10.1212/wnl.0b013e318249f71f

• A genome-wide association study identifies RNF213 as the first Moyamoya disease gene

  Journal of Human Genetics · 2010 · https://doi.org/10.1038/jhg.2010.132

• The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders

  Human Mutation · 2008 · https://doi.org/10.1002/humu.20748

• Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype–phenotype relationships and overlap with Costello syndrome

  Journal of Medical Genetics · 2007 · https://doi.org/10.1136/jmg.2007.050450

• Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome

  Nature Genetics · 2006 · https://doi.org/10.1038/ng1749

• Functional analysis of PTPN11/SHP-2 mutants identified in Noonan syndrome and childhood leukemia

  Journal of Human Genetics · 2005 · https://doi.org/10.1007/s10038-005-0239-7

• Germline mutations in HRAS proto-oncogene cause Costello syndrome

  Nature Genetics · 2005 · https://doi.org/10.1038/ng1641

• HRAS mutation analysis in Costello syndrome: Genotype and phenotype correlation

  American Journal of Medical Genetics Part A · 2005 · https://doi.org/10.1002/ajmg.a.31047

• Novel mutations in the connexin 26 gene (GJB2) responsible for childhood deafness in the Japanese population

  American Journal of Medical Genetics · 2000 · https://doi.org/10.1002/(sici)1096-8628(20000117)90:2<141::aid-ajmg10>3.0.co;2-g

• Mild ALS in Japan associated with novel SOD mutation

  Nature Genetics · 1993 · https://doi.org/10.1038/ng1293-323

• Molecular Cloning and Nucleotide Sequence of cDNAs Encoding the Precursors of Rat Long Chain Acyl-Coenzyme A, Short Chain Acyl-Coenzyme A, and Isovaleryl-Coenzyme A Dehydrogenases

  Journal of Biological Chemistry · 1989 · https://doi.org/10.1016/s0021-9258(18)71624-4

Current projects

No projects listed.