Pathogenic UBA1 variants associated with VEXAS syndrome in Japanese patients with relapsing polychondritis

Naomi Tsuchida, Yosuke Kunishita, Yuri Uchiyama, +10

Annals of the Rheumatic Diseases

Ultra–sensitive droplet digital PCR for detecting a low–prevalence somatic GNAQ mutation in Sturge–Weber syndrome

Yuri Uchiyama, Mitsuko Nakashima, Satoshi Watanabe, +10

Scientific Reports

Rapid and comprehensive diagnostic method for repeat expansion diseases using nanopore sequencing

Satoko Miyatake, Eriko Koshimizu, Atsushi Fujita, +26

npj Genomic Medicine

EngineeringGeneticsDiagnosisPathologyNucleic Acid Amplification Test +24

Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy

Atsushi Takata, Mitsuko Nakashima, Hirotomo Saitsu, +62

Nature Communications

Genetic abnormalities in a large cohort of Coffin–Siris syndrome patients

Futoshi Sekiguchi, Yoshinori Tsurusaki, Nobuhiko Okamoto, +76

Journal of Human Genetics

Mendelian DisorderGenetic DisorderGeneticsInherited Metabolic DiseaseGenetic Epidemiology +5

A novel somatic mutation in<i>GNB2</i>provides new insights to the pathogenesis of Sturge–Weber syndrome

Roar Fjær, Katarzyna Marciniak, Olav Sundnes, +15

Human Molecular Genetics

Sturge–weber SyndromeSomatic MutationSomatic VariantMendelian DisorderGenetic Disorder +13

Biallelic <i>COLGALT1</i> variants are associated with cerebral small vessel disease

Satoko Miyatake, Sacha Schneeberger, Norihisa Koyama, +25

Annals of Neurology

Comprehensive genetic analysis of 57 families with clinically suspected Cornelia de Lange syndrome

Hiromi Aoi, Takeshi Mizuguchi, José Ricard Magliocco Ceroni, +19

Journal of Human Genetics

Comprehensive Genetic AnalysisMendelian DisorderGenetic DisorderGeneticsLange Syndrome +6

Large-scale discovery of novel neurodevelopmental disorder-related genes through a unified analysis of single-nucleotide and copy number variants

Kohei Hamanaka, Noriko Miyake, Takeshi Mizuguchi, +24

Genome Medicine

RNA sequencing solved the most common but unrecognized NEB pathogenic variant in Japanese nemaline myopathy

Kohei Hamanaka, Satoko Miyatake, Eriko Koshimizu, +19

Genetics in Medicine

BioinformaticsRare DiseasesDna SequencingJapanese Nemaline MyopathyGenetics +9