Pathogenesis of CDK8-associated disorder: two patients with novel CDK8 variants and in vitro and in vivo functional analyses of the variants

Eitemau Tebyg

• Parallel detection of single nucleotide variants and copy number variants with exome analysis: Validation in a cohort of 700 undiagnosed patients
  gan: Suzuki, Hisato, et al.
  Cyhoeddwyd: (2020)
• A Japanese adult and two girls with NEDMIAL caused by de novo missense variants in DHX30
  gan: Ueda, Kimiko, et al.
  Cyhoeddwyd: (2021)
• Diagnostic utility of integrated analysis of exome and transcriptome: Successful diagnosis of Au‐Kline syndrome in a patient with submucous cleft palate, scaphocephaly, and intellectual disabilities
  gan: Yamada, Mamiko, et al.
  Cyhoeddwyd: (2020)
• Pathogenetic basis of Takenouchi-Kosaki syndrome: Electron microscopy study using platelets in patients and functional studies in a Caenorhabditis elegans model
  gan: Uehara, Tomoko, et al.
  Cyhoeddwyd: (2019)
• Recurrent NFIA K125E substitution represents a loss‐of‐function allele: Sensitive in vitro and in vivo assays for nontruncating alleles
  gan: Uehara, Tomoko, et al.
  Cyhoeddwyd: (2021)