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 · 338 citations · Full text

Life Sciences, Genetics, Molecular Genetics +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 · 316 citations · Full text

Veterinary Medicine, Infectious Diseases, Pediatrics +17

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

Trevor Cole, Helen E. Hughes · Journal of Medical Genetics · 1994 · 313 citations · Full text

Medicine, Genetics, Pediatrics +12

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 · 301 citations · Full text

Life Sciences, Genetics, Molecular Genetics +9

Noonan syndrome: The changing phenotype

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

Life Sciences, Genetics, Pediatrics +16