Elisabeth Rosser
Publications by Year
Research Areas
Genomics and Rare Diseases, Genetic Neurodegenerative Diseases, Genomic variations and chromosomal abnormalities, Genetics and Neurodevelopmental Disorders, Mitochondrial Function and Pathology
Most-Cited Works
- → Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease(2016)478 cited
- → Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome(2007)445 cited
- → Genotypes at the GluR6 kainate receptor locus are associated with variation in the age of onset of Huntington disease(1997)240 cited
- → Phenotypic spectrum of neurodegeneration associated with mutations in the PLA2G6 gene (PLAN)(2008)240 cited
- → Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome(2005)225 cited
- → Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism(2014)168 cited
- → Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families(2015)162 cited
- → Mutation in Rab3 GTPase-Activating Protein (RAB3GAP) Noncatalytic Subunit in a Kindred with Martsolf Syndrome(2006)109 cited
- → 22 Years of predictive testing for Huntington’s disease: the experience of the UK Huntington’s Prediction Consortium(2016)92 cited
- → Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm(2013)91 cited