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Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations

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Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci

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Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease

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Whole-genome sequencing of patients with rare diseases in a national health system

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Heterozygous Mutations in TREX1 Cause Familial Chilblain Lupus and Dominant Aicardi-Goutières Syndrome

Rice, G., Newman, W. G., Dean, J., Patrick, T., Parmar, R., Flintoff, K., Robins, P., Harvey, S., Hollis, T., O’Hara, A., et al. (2007) · The American Journal of Human Genetics

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Whole exome sequencing reveals the major genetic contributors to nonsyndromic tetralogy of Fallot

Page, D. J., Miossec, M. J., Williams, S. G., Monaghan, R. M., Fotiou, E., Cordell, H. J., Sutcliffe, L., Topf, A., Bourgey, M., Bourque, G., et al. (2019) · Circulation Research

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Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study

Ibañez, K., Polke, J., Hagelstrom, R. T., Dolzhenko, E., Pasko, D., Thomas, E. R. A., Daugherty, L. C., Kasperaviciute, D., Smith, K. R., McDonagh, E. M., et al. (2022) · The Lancet Neurology

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Exploring the genetic architecture of inflammatory bowel disease by whole-genome sequencing identifies association at ADCY7

Luo, Y., de Lange, K. M., Jostins, L., Moutsianas, L., Randall, J., Kennedy, N. A., Lamb, C. A., McCarthy, S., Ahmad, T., Edwards, C., et al. (2017) · Nature Genetics

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A Dominantly Inherited 5′ UTR Variant Causing Methylation-Associated Silencing of BRCA1 as a Cause of Breast and Ovarian Cancer

Evans, D. G. R., van Veen, E. M., Byers, H. J., Wallace, A. J., Ellingford, J. M., Beaman, G., Santoyo-Lopez, J., Aitman, T. J., Eccles, D. M., Lalloo, F. I., et al. (2018) · The American Journal of Human Genetics

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