Concepedia

Frances Elmslie

FE

Statistics

Publications

40

Citations

4.5K

H-Index

32

Active since

1995

Affiliations

University College London(Current)

St George's, University of London

St George's Hospital

University of Manchester

Guy's Hospital

Frances Elmslie is an author at University College London specializing in genetics, genetic disorders, and life sciences.

ORCID

Publications per year

1995–2024

40

Publications

40

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 · 755 citations · Full text

, , +14

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 · 308 citations

, , +13

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 · 282 citations · Full text

, , +8

Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders

Víctor Faùndes, William G. Newman, Laura Bernardini et al. · The American Journal of Human Genetics · 2017 · 278 citations · Full text

, , +14

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

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

, , +16

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