Frances Elmslie
St George's, University of London(GB)St George’s University Hospitals NHS Foundation Trust(GB)St George's Hospital(GB)City St George's, University of London(GB)
Publications by Year
Research Areas
Genetics and Neurodevelopmental Disorders, Genomics and Rare Diseases, Tuberous Sclerosis Complex Research, Genomic variations and chromosomal abnormalities, Ion channel regulation and function
Most-Cited Works
- → SCN9A Mutations in Paroxysmal Extreme Pain Disorder: Allelic Variants Underlie Distinct Channel Defects and Phenotypes(2006)747 cited
- → Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss(2011)307 cited
- → De Novo Mutations in MLL Cause Wiedemann-Steiner Syndrome(2012)280 cited
- → Genetic mapping of a major susceptibility locus for juvenile myoclonic epilepsy on chromosome 15q(1997)251 cited
- → Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome(2012)240 cited
- → Sirolimus Therapy in Tuberous Sclerosis or Sporadic Lymphangioleiomyomatosis(2008)210 cited