Tomas Fitzgerald

Origins and functional impact of copy number variation in the human genome

Donald F. Conrad, Dalila Pinto, Richard Redon et al. · Nature · 2009 · 2K citations

Genome Study, Medicine, Genetics +9

Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data

Caroline F. Wright, Tomas Fitzgerald, Wendy D. Jones et al. · The Lancet · 2014 · 785 citations · Full text

Genomic and Genic Deletions of the FOX Gene Cluster on 16q24.1 and Inactivating Mutations of FOXF1 Cause Alveolar Capillary Dysplasia and Other Malformations

Paweł Stankiewicz, Partha Sen, Samarth Bhatt et al. · The American Journal of Human Genetics · 2009 · 513 citations · Full text

Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants

Dalila Pinto, Katayoon Darvishi, Xinghua Shi et al. · Nature Biotechnology · 2011 · 418 citations

Hardware Security, Comprehensive Assessment, Engineering +10

RNA modifications detection by comparative Nanopore direct RNA sequencing

Adrien Léger, Paulo Amaral, Luca Pandolfini et al. · Nature Communications · 2021 · 393 citations · Full text