Katrina Prescott
Chapel Allerton Hospital(GB)Leeds Teaching Hospitals NHS Trust(GB)
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, Congenital heart defects research, Prenatal Screening and Diagnostics
Most-Cited Works
- → Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study(2019)698 cited
- → DICER1 syndrome: clarifying the diagnosis, clinical features and management implications of a pleiotropic tumour predisposition syndrome(2011)361 cited
- → Mutation update for the CSB / ERCC6 and CSA / ERCC8 genes involved in Cockayne syndrome(2009)226 cited
- → The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant(2015)185 cited
- → Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism(2014)168 cited
- → Discriminating Power of Localized Three-Dimensional Facial Morphology(2005)159 cited