Denise Sheer

cancer genetics children dna brain tumours treatment clinical trials epigenetics mutations chromosomes braf brain low-grade gliomas microrna proteins gene fusions pathology pi3k mapk glioblastoma signalling diagnosis astrocytomas histones molecular pathways repeat expansion disorders. spinal muscular atrophy genes regulation chromatin coffin-lowry syndrome transcription rubinstein-taybi syndrome transcriptomics structural variation linkage studies homozygosity mapping gwas exome and whole genome sequencing structural genomic aberrations tumour suppressor genes oncogenes neuroblastoma retinoblastoma genetic predisposition wilms tumour embryonal tumours homology dna sequence dna replication genome variation genome evolution dna repair genomic disorders microhomology dna damage double-strand breaks genome gene mapping