Patch, C.

Mutational signature in colorectal cancer caused by genotoxic pks+ E. coli

Pleguezuelos-Manzano, C., Puschhof, J., Rosendahl Huber, A., van Hoeck, A., Wood, H. M., Nomburg, J., Gurjao, C., Manders, F., Dalmasso, G., Stege, P. B., et al. (2020) · Nature

Genetic factors in colorectal cancerCancer Genomics and Diagnostics

Cited by 1,208

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

Genetic Neurodegenerative DiseasesGenomics and Rare Diseases

Cited by 187

Penetrance for copy number variants associated with schizophrenia

Vassos, E., Collier, D. A., Holden, S., Patch, C., Rujescu, D., St Clair, D., & Lewis, C. M. (2010) · Human Molecular Genetics

Genomic variations and chromosomal abnormalitiesSchizophrenia research and treatment

Cited by 182

Widespread genomic influences on phenotype in Dravet syndrome, a ‘monogenic’ condition

Martins Custodio, H., Clayton, L. M., Bellampalli, R., Pagni, S., Silvennoinen, K., Caswell, R., Genomics England Research Consortium, Ambrose, J. C., Arumugam, P., Bevers, R., et al. (2023) · Brain

Epilepsy research and treatmentGenomics and Rare Diseases

Cited by 62

Participant experiences of genome sequencing for rare diseases in the 100,000 Genomes Project: a mixed methods study

Peter, M., Hammond, J., Sanderson, S. C., Gurasashvili, J., Hunter, A., Searle, B., Patch, C., Chitty, L. S., Hill, M., & Lewis, C. (2022) · European Journal of Human Genetics

Genomics and Rare DiseasesEthics and Legal Issues in Pediatric Healthcare

Cited by 37

The inner junction protein CFAP20 functions in motile and non-motile cilia and is critical for vision

Chrystal, P. W., Lambacher, N. J., Doucette, L. P., Bellingham, J., Schiff, E. R., Noel, N. C. L., Li, C., Tsiropoulou, S., Casey, G. A., Zhai, Y., et al. (2022) · Nature Communications

Genetic and Kidney Cyst DiseasesCystic Fibrosis Research Advances

Cited by 31