Bentham, Jamie

The UK10K project identifies rare variants in health and disease

The UK10K Consortium, Writing group, Walter, K., Min, J. L., Huang, J., Crooks, L., Memari, Y., McCarthy, S., Perry, J. R. B., Xu, C., et al. (2015) · Nature

Genetic Associations and EpidemiologyGenomics and Rare Diseases

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Contribution of Global Rare Copy-Number Variants to the Risk of Sporadic Congenital Heart Disease

Soemedi, R., Wilson, I. J., Bentham, J., Darlay, R., Töpf, A., Zelenika, D., Cosgrove, C., Setchfield, K., Thornborough, C., Granados-Riveron, J., et al. (2012) · The American Journal of Human Genetics

Genomic variations and chromosomal abnormalitiesCongenital heart defects research

Cited by 315

An organelle-specific protein landscape identifies novel diseases and molecular mechanisms

Boldt, K., van Reeuwijk, J., Lu, Q., Koutroumpas, K., Nguyen, T.-M. T., Texier, Y., van Beersum, S. E. C., Horn, N., Willer, J. R., Mans, D. A., et al. (2016) · Nature Communications

Genetic and Kidney Cyst DiseasesCystic Fibrosis Research Advances

Cited by 240

Whole-genome sequence-based analysis of thyroid function

Taylor, P. N., Porcu, E., Chew, S., Campbell, P. J., Traglia, M., Brown, S. J., Mullin, B. H., Shihab, H. A., Min, J., Walter, K., et al. (2015) · Nature Communications

Genetic Associations and EpidemiologyThyroid Disorders and Treatments

Cited by 104

A Common Variant in the PTPN11 Gene Contributes to the Risk of Tetralogy of Fallot

Goodship, J. A., Hall, D., Topf, A., Mamasoula, C., Griffin, H., Rahman, T. J., Glen, E., Tan, H., Palomino Doza, J., Relton, C. L., et al. (2012) · Circulation: Cardiovascular Genetics

Congenital Heart Disease StudiesCongenital heart defects research

Cited by 38

Low-frequency intermediate penetrance variants in the ROCK1 gene predispose to Tetralogy of Fallot

Palomino Doza, J., Topf, A., Bentham, J., Bhattacharya, S., Cosgrove, C., Brook, J. D., Granados-Riveron, J., Bu’Lock, F. A., O’Sullivan, J., Stuart, A. G., et al. (2013) · BMC Genetics

Congenital heart defects researchCongenital Heart Disease Studies

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