David Fitzpatrick
York University(CA)Western General Hospital(GB)Institute of Genetics and Cancer(GB)University of Edinburgh(GB)
Publications by Year
Research Areas
Genomics and Rare Diseases, Genomic variations and chromosomal abnormalities, Genetics and Neurodevelopmental Disorders, Ocular Disorders and Treatments, Genomics and Chromatin Dynamics
Most-Cited Works
- → A Critical Role for Dnmt1 and DNA Methylation in T Cell Development, Function, and Survival(2001)1,268 cited
- → The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data(2013)837 cited
- → Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data(2014)787 cited
- → Paediatric genomics: diagnosing rare disease in children(2018)621 cited
- → Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B(2004)606 cited
- → Mutations in SOX2 cause anophthalmia(2003)539 cited