Yoko Hiraki
Kindai University(JP)
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Genomics and Rare Diseases, Congenital heart defects research, Genetics and Neurodevelopmental Disorders, Autism Spectrum Disorder Research
Most-Cited Works
- → Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome(2012)519 cited
- → Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Disorder(2018)183 cited
- → MLL2 and KDM6A mutations in patients with Kabuki syndrome(2013)178 cited
- → Clinical correlations of mutations affecting six components of the SWI/SNF complex: Detailed description of 21 patients and a review of the literature(2013)101 cited
- → Microarray analysis of 50 patients reveals the critical chromosomal regions responsible for 1p36 deletion syndrome-related complications(2014)64 cited
- → BAC array CGH reveals genomic aberrations in idiopathic mental retardation(2006)64 cited
- → A case of autism spectrum disorder arising from a de novo missense mutation in POGZ(2015)53 cited
- → Large-scale discovery of novel neurodevelopmental disorder-related genes through a unified analysis of single-nucleotide and copy number variants(2022)53 cited
- → A de novo 1.4‐Mb deletion at 21q22.11 in a boy with developmental delay(2014)47 cited
- → The spectrum of ZEB2 mutations causing the Mowat–Wilson syndrome in Japanese populations(2014)45 cited