Tucci, Arianna

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

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PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels

Martin, A. R., Williams, E., Foulger, R. E., Leigh, S., Daugherty, L. C., Niblock, O., Leong, I. U. S., Smith, K. R., Gerasimenko, O., Haraldsdottir, E., et al. (2019) · Nature Genetics

Genomics and Rare DiseasesBiomedical Text Mining and Ontologies

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ExpansionHunter: a sequence-graph-based tool to analyze variation in short tandem repeat regions

Dolzhenko, E., Deshpande, V., Schlesinger, F., Krusche, P., Petrovski, R., Chen, S., Emig-Agius, D., Gross, A., Narzisi, G., Bowman, B., et al. (2019) · Bioinformatics

Genomics and Phylogenetic StudiesGenomics and Rare Diseases

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GWAS and meta-analysis identifies 49 genetic variants underlying critical COVID-19

Pairo-Castineira, E., Rawlik, K., Bretherick, A. D., Qi, T., Wu, Y., Nassiri, I., McConkey, G. A., Zechner, M., Klaric, L., Griffiths, F., et al. (2023) · Nature

Genetic Associations and EpidemiologyCOVID-19 Clinical Research Studies

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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

Genetic Neurodegenerative DiseasesGenomics and Rare Diseases

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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

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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

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