Helen E. Hughes

Genotype-Phenotype Associations in Sotos Syndrome: An Analysis of 266 Individuals with NSD1 Aberrations

Katrina Tatton‐Brown, Jenny Douglas, Kim Coleman et al. · The American Journal of Human Genetics · 2005 · 334 citations · Full text

Sotos Syndrome, Genotype-phenotype Associations, Genetic Disorder +7

Sotos syndrome: a study of the diagnostic criteria and natural history.

Trevor Cole, Helen E. Hughes · Journal of Medical Genetics · 1994 · 311 citations · Full text

NSD1 Mutations Are the Major Cause of Sotos Syndrome and Occur in Some Cases of Weaver Syndrome but Are Rare in Other Overgrowth Phenotypes

Jenny Douglas, Sandra Hanks, I. Karen Temple et al. · The American Journal of Human Genetics · 2003 · 300 citations · Full text

Sotos Syndrome, Developmental Biology, Mendelian Disorder +8

Epidemiology of respiratory syncytial virus in children younger than 5 years in England during the COVID-19 pandemic, measured by laboratory, clinical, and syndromic surveillance: a retrospective observational study

Megan Bardsley, Roger Morbey, Helen E. Hughes et al. · The Lancet Infectious Diseases · 2022 · 299 citations · Full text

Noonan syndrome: The changing phenotype

Judith Allanson, Judith G. Hall, Helen E. Hughes et al. · American Journal of Medical Genetics · 1985 · 240 citations