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Tomas Fitzgerald
Tomas Fitzgerald
Senior Research Staff Scientist EMBL-EBI
Verified email at ebi.ac.uk
Title
Cited by
Cited by
Year
Origins and functional impact of copy number variation in the human genome
DF Conrad, D Pinto, R Redon, L Feuk, O Gokcumen, Y Zhang, J Aerts, ...
Nature 464 (7289), 704-712, 2010
22402010
Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data
CF Wright, TW Fitzgerald, WD Jones, S Clayton, JF McRae, ...
The Lancet 385 (9975), 1305-1314, 2015
8162015
Large-scale discovery of novel genetic causes of developmental disorders
Nature 519 (7542), 223-228, 2015
7432015
Genomic and genic deletions of the FOX gene cluster on 16q24. 1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations
P Stankiewicz, P Sen, SS Bhatt, M Storer, Z Xia, BA Bejjani, Z Ou, ...
The American Journal of Human Genetics 84 (6), 780-791, 2009
4382009
Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing
A Sifrim, MP Hitz, A Wilsdon, J Breckpot, SHA Turki, B Thienpont, ...
Nature genetics 48 (9), 1060-1065, 2016
4022016
Punctuated bursts in human male demography inferred from 1,244 worldwide Y-chromosome sequences
GD Poznik, Y Xue, FL Mendez, TF Willems, A Massaia, MA Wilson Sayres, ...
Nature genetics 48 (6), 593-599, 2016
3502016
Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disorders
CF Wright, JF McRae, S Clayton, G Gallone, S Aitken, TW FitzGerald, ...
Genetics in Medicine 20 (10), 1216-1223, 2018
3152018
Copy number variation and evolution in humans and chimpanzees
GH Perry, F Yang, T Marques-Bonet, C Murphy, T Fitzgerald, AS Lee, ...
Genome research 18 (11), 1698-1710, 2008
2932008
RNA modifications detection by comparative Nanopore direct RNA sequencing
A Leger, PP Amaral, L Pandolfini, C Capitanchik, F Capraro, V Miano, ...
Nature communications 12 (1), 7198, 2021
2462021
A robust statistical method for case-control association testing with copy number variation
C Barnes, V Plagnol, T Fitzgerald, R Redon, J Marchini, D Clayton, ...
Nature genetics 40 (10), 1245-1252, 2008
2112008
Histone lysine methylases and demethylases in the landscape of human developmental disorders
V Faundes, WG Newman, L Bernardini, N Canham, J Clayton-Smith, ...
The American Journal of Human Genetics 102 (1), 175-187, 2018
2052018
Mobilization of giant piggyBac transposons in the mouse genome
MA Li, DJ Turner, Z Ning, K Yusa, Q Liang, S Eckert, L Rad, TW Fitzgerald, ...
Nucleic acids research 39 (22), e148-e148, 2011
1992011
Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families
N Akawi, J McRae, M Ansari, M Balasubramanian, M Blyth, AF Brady, ...
Nature genetics 47 (11), 1363-1369, 2015
1642015
Breaking the waves: improved detection of copy number variation from microarray-based comparative genomic hybridization
JC Marioni, NP Thorne, A Valsesia, T Fitzgerald, R Redon, H Fiegler, ...
Genome biology 8, 1-14, 2007
1622007
High incidence of recurrent copy number variants in patients with isolated and syndromic Müllerian aplasia
S Nik-Zainal, R Strick, M Storer, N Huang, R Rad, L Willatt, T Fitzgerald, ...
Journal of medical genetics 48 (3), 197-204, 2011
1332011
Massively parallel sequencing reveals the complex structure of an irradiated human chromosome on a mouse background in the Tc1 model of Down syndrome
SM Gribble, FK Wiseman, S Clayton, E Prigmore, E Langley, F Yang, ...
PloS one 8 (4), e60482, 2013
1092013
Reduced TFAP2A function causes variable optic fissure closure and retinal defects and sensitizes eye development to mutations in other morphogenetic regulators
G Gestri, RJ Osborne, AW Wyatt, D Gerrelli, S Gribble, H Stewart, A Fryer, ...
Human genetics 126, 791-803, 2009
802009
Comparison of associations with different macular inner retinal thickness parameters in a large cohort: the UK Biobank
AP Khawaja, S Chua, PG Hysi, S Georgoulas, H Currant, TW Fitzgerald, ...
Ophthalmology 127 (1), 62-71, 2020
762020
The human leukemia virus HTLV-1 alters the structure and transcription of host chromatin in cis
A Melamed, H Yaguchi, M Miura, A Witkover, TW Fitzgerald, E Birney, ...
Elife 7, e36245, 2018
732018
Clinically-relevant postzygotic mosaicism in parents and children with developmental disorders in trio exome sequencing data
CF Wright, E Prigmore, D Rajan, J Handsaker, J McRae, J Kaplanis, ...
Nature Communications 10 (1), 2985, 2019
722019
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