Smith, Katherine R.

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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Rare variant contribution to human disease in 281,104 UK Biobank exomes

Wang, Q., Dhindsa, R. S., Carss, K., Harper, A. R., Nag, A., Tachmazidou, I., Vitsios, D., Deevi, S. V. V., Mackay, A., Muthas, D., et al. (2021) · Nature

Genetic Associations and EpidemiologyGenomics and Rare Diseases

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

Turro, E., Astle, W. J., Megy, K., Gräf, S., Greene, D., Shamardina, O., Allen, H. L., Sanchis-Juan, A., Frontini, M., Thys, C., et al. (2020) · Nature

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 554

Strikingly Different Clinicopathological Phenotypes Determined by Progranulin-Mutation Dosage

Smith, K. R., Damiano, J., Franceschetti, S., Carpenter, S., Canafoglia, L., Morbin, M., Rossi, G., Pareyson, D., Mole, S. E., Staropoli, J. F., et al. (2012) · The American Journal of Human Genetics

Amyotrophic Lateral Sclerosis ResearchLysosomal Storage Disorders Research

Cited by 489

Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy

Heron, S. E., Smith, K. R., Bahlo, M., Nobili, L., Kahana, E., Licchetta, L., Oliver, K. L., Mazarib, A., Afawi, Z., Korczyn, A., et al. (2012) · Nature Genetics

Epilepsy research and treatmentIon channel regulation and function

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Advancing human genetics research and drug discovery through exome sequencing of the UK Biobank

Szustakowski, J. D., Balasubramanian, S., Kvikstad, E., Khalid, S., Bronson, P. G., Sasson, A., Wong, E., Liu, D., Wade Davis, J., Haefliger, C., et al. (2021) · Nature Genetics

Genetic Associations and EpidemiologyGenomics and Rare Diseases

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Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS

Rafehi, H., Szmulewicz, D. J., Bennett, M. F., Sobreira, N. L. M., Pope, K., Smith, K. R., Gillies, G., Diakumis, P., Dolzhenko, E., Eberle, M. A., et al. (2019) · The American Journal of Human Genetics

Genetic Neurodegenerative DiseasesGenomics and Rare Diseases

Cited by 262

Prospects for epigenetic epidemiology

Foley, D. L., Craig, J. M., Morley, R., Olsson, C. J., Dwyer, T., Smith, K., & Saffery, R. (2008) · American Journal of Epidemiology

Epigenetics and DNA MethylationBirth, Development, and Health

Cited by 244

Rare variant associations with plasma protein levels in the UK Biobank

Dhindsa, R. S., Burren, O. S., Sun, B. B., Prins, B. P., Matelska, D., Wheeler, E., Mitchell, J., Oerton, E., Hristova, V. A., Smith, K. R., et al. (2023) · Nature

Genetic Associations and EpidemiologyGenomics and Rare Diseases

Cited by 193

Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis

Smith, K. R., Dahl, H.-H. M., Canafoglia, L., Andermann, E., Damiano, J., Morbin, M., Bruni, A. C., Giaccone, G., Cossette, P., Saftig, P., et al. (2013) · Human Molecular Genetics

Lysosomal Storage Disorders ResearchGlycogen Storage Diseases and Myoclonus

Cited by 130

Human genetics uncovers MAP3K15 as an obesity-independent therapeutic target for diabetes

Nag, A., Dhindsa, R. S., Mitchell, J., Vasavda, C., Harper, A. R., Vitsios, D., Ahnmark, A., Bilican, B., Madeyski-Bengtson, K., Zarrouki, B., et al. (2022) · Science Advances

Genetic Associations and EpidemiologyDiabetes and associated disorders

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Effects of protein-coding variants on blood metabolite measurements and clinical biomarkers in the UK Biobank

Nag, A., Dhindsa, R. S., Middleton, L., Jiang, X., Vitsios, D., Wigmore, E., Allman, E. L., Reznichenko, A., Carss, K., Smith, K. R., et al. (2023) · The American Journal of Human Genetics

Genetic Associations and EpidemiologyGenomics and Rare Diseases

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A phenome-wide structural variant map from 467,152 UK Biobank genomes

Atanur, S. S., Hu, F., Lou, H., Li, X., Zou, X. Z., O’Dell, S., Deevi, S. V. V., Sawczuk, P., Megy, K., Fairhurst-Hunter, Z., et al. (2026) · Cell

Genomic variations and chromosomal abnormalitiesGenetic Associations and Epidemiology

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