Kathleen A. Williamson
Institute of Genetics and Cancer(GB)University of Edinburgh(GB)
Publications by Year
Research Areas
Ocular Disorders and Treatments, SARS-CoV-2 and COVID-19 Research, Congenital Ear and Nasal Anomalies, Renal and related cancers, Developmental Biology and Gene Regulation
Most-Cited Works
- → Heterozygous Mutations of OTX2 Cause Severe Ocular Malformations(2005)309 cited
- → The genetic architecture of microphthalmia, anophthalmia and coloboma(2014)267 cited
- → PAX6 haploinsufficiency causes cerebral malformation and olfactory dysfunction in humans(2001)237 cited
- → SOX2 anophthalmia syndrome(2005)226 cited
- → Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome(2006)222 cited
- → Detailed Ophthalmologic Evaluation of 43 Individuals withPAX6Mutations(2009)190 cited
- → Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism(2014)168 cited