Tomas Fitzgerald
European Bioinformatics Institute(GB)Bioinformatics Institute(RU)
Publications by Year
Research Areas
Genomics and Rare Diseases, Genomic variations and chromosomal abnormalities, Genetic Associations and Epidemiology, Genetic Mapping and Diversity in Plants and Animals, Chromosomal and Genetic Variations
Most-Cited Works
- → Origins and functional impact of copy number variation in the human genome(2009)2,045 cited
- → Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls(2010)810 cited
- → Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data(2014)787 cited
- → Genomic and Genic Deletions of the FOX Gene Cluster on 16q24.1 and Inactivating Mutations of FOXF1 Cause Alveolar Capillary Dysplasia and Other Malformations(2009)527 cited
- → Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing(2016)464 cited
- → Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants(2011)422 cited