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Tomas Fitzgerald | Researchclopedia

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Tomas Fitzgerald

European Bioinformatics Institute ORCID

142

Works

29,195

Citations

36

h-index

58

i10-index

Research Topics

Genomics and Rare Diseases Genomic variations and chromosomal abnormalities Genetic Associations and Epidemiology

Affiliations

New York State Department of Health2004–2004

European Bioinformatics Institute2018–2025

Wadsworth Center2004–2004

Howard Hughes Medical Institute2011–2011

Johns Hopkins University2011–2011

Top Works

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

Donald F. Conrad,Dalila Pinto,et al.

20092,045 citations

Genetic Mapping and Diversity in Plants and Animals

Chromosomal and Genetic Variations

Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls

Elaine Green, Katherine Gordon-Smith,et al.

2010810 citations

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

Caroline F. Wright,Tomas Fitzgerald,et al.

2014787 citations

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,et al.

2009527 citations

Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing

the INTERVAL Study,Alejandro Sifrim,et al.

2016464 citations

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

Dalila Pinto,Katayoon Darvishi,et al.

2011422 citations

RNA modifications detection by comparative Nanopore direct RNA sequencing

Adrien Léger,Paulo Amaral,et al.

2021402 citations

Punctuated bursts in human male demography inferred from 1,244 worldwide Y-chromosome sequences

G. David Poznik,Yali Xue,et al.

2016351 citations

Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disorders

Caroline F. Wright,Jeremy F. McRae,et al.

2018336 citations