Fitzgerald, Tomas

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

The Wellcome Trust Case Control Consortium, Conrad, D. F., Pinto, D., Redon, R., Feuk, L., Gokcumen, O., Zhang, Y., Aerts, J., Andrews, T. D., Barnes, C., et al. (2010) · Nature

Genomic variations and chromosomal abnormalitiesGenome Rearrangement Algorithms

Cited by 1,970

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

The 1000 Genomes Project Consortium, Poznik, G. D., Xue, Y., Mendez, F. L., Willems, T. F., Massaia, A., Wilson Sayres, M. A., Ayub, Q., McCarthy, S. A., Narechania, A., et al. (2016) · Nature Genetics

Forensic and Genetic ResearchGenetic diversity and population structure

Cited by 331

Massively Parallel Sequencing Reveals the Complex Structure of an Irradiated Human Chromosome on a Mouse Background in the Tc1 Model of down Syndrome.

Gribble, S. M., Wiseman, F. K., Clayton, S., Prigmore, E., Langley, E., Yang, F., Maguire, S., Fu, B., Rajan, D., Sheppard, O., et al. (2013) · PLoS ONE

Down syndrome and intellectual disability researchGenomic variations and chromosomal abnormalities

Cited by 102

Prevalence, phenotype and architecture of developmental disorders caused by de novo mutation: The Deciphering Developmental Disorders Study

McRae, J. F., Clayton, S., Fitzgerald, T. W., Kaplanis, J., Prigmore, E., Rajan, D., Sifrim, A., Aitken, S., Akawi, N., Alvi, M., et al. (2016) · bioRxiv (Cold Spring Harbor Laboratory)

Genomics and Rare DiseasesGenetics and Neurodevelopmental Disorders

Cited by 30