Diana Baralle
Southampton General Hospital(GB)Southern Health NHS Foundation Trust(GB)University Hospital Southampton NHS Foundation Trust(GB)NIHR Southampton Biomedical Research Centre(GB)Health and Human Development (2HD) Research Network(CM)University of Southampton(GB)
Publications by Year
Research Areas
Genomics and Rare Diseases, RNA Research and Splicing, RNA modifications and cancer, RNA and protein synthesis mechanisms, Genomic variations and chromosomal abnormalities
Most-Cited Works
- → Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes(2008)806 cited
- → Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation(2021)713 cited
- → A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size(2005)563 cited
- → Splicing in action: assessing disease causing sequence changes(2005)498 cited
- → An Absence of Cutaneous Neurofibromas Associated with a 3-bp Inframe Deletion in Exon 17 of the NF1 Gene (c.2970-2972 delAAT): Evidence of a Clinically Significant NF1 Genotype-Phenotype Correlation(2006)360 cited
- → Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability(2014)353 cited