Fiona Stewart

Mutations of <i>ARX</i> are associated with striking pleiotropy and consistent genotype–phenotype correlation

Mitsuhiro Kato, Soma Das, Kristin Petras et al. · Human Mutation · 2004 · 327 citations

Genetics, Pathology, Molecular Genetics +17

An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes

Gabrielle Wheway, Miriam Schmidts, Dorus A. Mans et al. · Nature Cell Biology · 2015 · 245 citations · Full text

Ciliopathy Genes, Functional Genomics, Glioma +10

The genetic basis of DOORS syndrome: an exome-sequencing study

Philippe M. Campeau, Dalia Kasperavičiūtė, James T. Lu et al. · The Lancet Neurology · 2013 · 227 citations · Full text

Association of mutation position in polycystic kidney disease 1 (PKD1) gene and development of a vascular phenotype

Sandro Rossetti, Dominique Chauveau, Vickie Kubly et al. · The Lancet · 2003 · 218 citations

Mutation Position, Vascular Phenotype, Genetic Disorder +12

Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability

Katrina Tatton‐Brown, Chey Loveday, Shawn Yost et al. · The American Journal of Human Genetics · 2017 · 208 citations · Full text