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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

→ Evidence that WT1 mutations in Denys — Drash syndrome patients may act in a dominant-negative fashion(1993)163 cited

→ Polymicrogyria and absence of pineal gland due to PAX6 mutation(2003)163 cited

→ SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome(2017)160 cited