Celia Moss

The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data

Sebastian Köhler, Sandra C. Doelken, Chris Mungall et al. · Nucleic Acids Research · 2013 · 834 citations · Full text

Engineering, Genetics, Updated Hpo Database +19

A Novel X-Linked Disorder of Immune Deficiency and Hypohidrotic Ectodermal Dysplasia Is Allelic to Incontinentia Pigmenti and Due to Mutations in IKK-gamma (NEMO)

Jonathan Zonana, Melissa E. Elder, Lynda C. Schneider et al. · The American Journal of Human Genetics · 2000 · 521 citations · Full text

Novel X-linked Disorder, Urology, Immune Deficiency +10

Mutations in ABCA12 Underlie the Severe Congenital Skin Disease Harlequin Ichthyosis

David P. Kelsell, Elizabeth E. Norgett, H Unsworth et al. · The American Journal of Human Genetics · 2005 · 351 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +6

Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy

Lara Al-Olabi, Satyamaanasa Polubothu, Katherine Dowsett et al. · Journal of Clinical Investigation · 2018 · 276 citations · Full text

Randomised controlled study of early pulsed dye laser treatment of uncomplicated childhood haemangiomas: results of a 1-year analysis

K. Batta, Helen Goodyear, Celia Moss et al. · The Lancet · 2002 · 258 citations

1-Year Analysis, Uncomplicated Childhood Haemangiomas, Pediatric Neurosurgery +3