Multi-center, prospective observational cohort study of individuals with congenital heart defects (CHD). Phenotypic data and source DNA of probands, parents, and families of interest are being collected to investigate relationships between genetic factors and phenotypic and clinical outcomes in p...
Whole exome sequencing of paediatric glioblastoma with mutations reported in the manuscript: Mutations in ACVR1, FGFR1 and TP53 associate with tumor location in histone H3 K27M pediatric midline high-grade astrocytoma
Recurrent somatic H3 K27M mutations characterize midline pediatric high-grade astrocytomas (pHGAs). In 40 treatment-naïve midline pHGAs we find additional somatic mutations specific to tumor location. Gain-of-function mutations in ACVR1 occur in tumors of the pons in conjunction with H3.1K27M, whil...
