Frances Elmslie

SCN9A Mutations in Paroxysmal Extreme Pain Disorder: Allelic Variants Underlie Distinct Channel Defects and Phenotypes

Caroline Fertleman, Mark D. Baker, Keith A. Parker et al. · Neuron · 2006 · 745 citations · Full text

Allelic Variant, Molecular Neuroscience, Genetic Disorder +7

Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss

Michael A. Simpson, Melita Irving, Esra Asilmaz et al. · Nature Genetics · 2011 · 306 citations

Progressive Bone Loss, Craniofacial Disorder, Genetic Disorder +4

De Novo Mutations in MLL Cause Wiedemann-Steiner Syndrome

Wendy D. Jones, Dimitra Dafou, Meriel McEntagart et al. · The American Journal of Human Genetics · 2012 · 276 citations · Full text

Mendelian Disorder, Genetic Disorder, Medicine +6

Genetic mapping of a major susceptibility locus for juvenile myoclonic epilepsy on chromosome 15q

Frances Elmslie · Human Molecular Genetics · 1997 · 251 citations · Full text

Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome

David A. Koolen, Jamie M. Kramer, Kornelia Neveling et al. · Nature Genetics · 2012 · 238 citations

Chromatin, Genome Instability, Gene Deletion Data +11