Yuri Uchiyama
Hamamatsu University School of Medicine(JP)
Publications by Year
Research Areas
Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, Genomic variations and chromosomal abnormalities, RNA modifications and cancer, Otitis Media and Relapsing Polychondritis
Most-Cited Works
- → Correction: Corrigendum: Ultra–sensitive droplet digital PCR for detecting a low–prevalence somatic GNAQ mutation in Sturge–Weber syndrome(2017)338 cited
- → Pathogenic UBA1 variants associated with VEXAS syndrome in Japanese patients with relapsing polychondritis(2021)129 cited
- → Rapid and comprehensive diagnostic method for repeat expansion diseases using nanopore sequencing(2022)75 cited
- → Ultra–sensitive droplet digital PCR for detecting a low–prevalence somatic GNAQ mutation in Sturge–Weber syndrome(2016)73 cited
- → Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy(2019)68 cited
- → Genetic abnormalities in a large cohort of Coffin–Siris syndrome patients(2019)67 cited
- → A novel somatic mutation inGNB2provides new insights to the pathogenesis of Sturge–Weber syndrome(2021)63 cited
- → Biallelic COLGALT1 variants are associated with cerebral small vessel disease(2018)59 cited
- → Comprehensive genetic analysis of 57 families with clinically suspected Cornelia de Lange syndrome(2019)59 cited
- → Large-scale discovery of novel neurodevelopmental disorder-related genes through a unified analysis of single-nucleotide and copy number variants(2022)53 cited