Edkins, Sarah

Mutations of the BRAF gene in human cancer

Davies, H., Bignell, G. R., Cox, C., Stephens, P., Edkins, S., Clegg, S., Teague, J., Woffendin, H., Garnett, M. J., Bottomley, W., et al. (2002) · Nature

Melanoma and MAPK PathwaysProtein Kinase Regulation and GTPase Signaling

Cited by 10,674

Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes

the DIAbetes Genetics Replication And Meta-analysis (DIAGRAM) Consortium, Morris, A. P., Voight, B. F., Teslovich, T. M., Ferreira, T., Segrè, A. V., Steinthorsdottir, V., Strawbridge, R. J., Khan, H., Grallert, H., et al. (2012) · Nature Genetics

Genetic Associations and EpidemiologyGenetic Mapping and Diversity in Plants and Animals

Cited by 1,912

A comprehensive catalogue of somatic mutations from a human cancer genome

Pleasance, E. D., Cheetham, R. K., Stephens, P. J., McBride, D. J., Humphray, S. J., Greenman, C. D., Varela, I., Lin, M.-L., Ordóñez, G. R., Bignell, G. R., et al. (2010) · Nature

Cancer Genomics and DiagnosticsChromatin Remodeling and Cancer

Cited by 1,696

Systematic sequencing of renal carcinoma reveals inactivation of histone modifying genes

Dalgliesh, G. L., Furge, K., Greenman, C., Chen, L., Bignell, G., Butler, A., Davies, H., Edkins, S., Hardy, C., Latimer, C., et al. (2010) · Nature

Renal cell carcinoma treatmentChromatin Remodeling and Cancer

Cited by 1,173

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

Cited by 1,040

Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility

DIAbetes Genetics Replication And Meta-analysis (DIAGRAM) Consortium, Mahajan, A., Asian Genetic Epidemiology Network Type 2 Diabetes (AGEN-T2D) Consortium, South Asian Type 2 Diabetes (SAT2D) Consortium, Mexican American Type 2 Diabetes (MAT2D) Consortium, Type 2 Diabetes Genetic Exploration by Next-generation sequencing in multi-Ethnic Samples (T2D-GENES) Consortium, Go, M. J., Zhang, W., Below, J. E., Gaulton, K. J., et al. (2014) · Nature Genetics

Genetic Associations and EpidemiologyGenetic Mapping and Diversity in Plants and Animals

Cited by 1,034

Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity

Collaborative Association Study of Psoriasis (CASP), Tsoi, L. C., Genetic Analysis of Psoriasis Consortium, Psoriasis Association Genetics Extension, Wellcome Trust Case Control Consortium 2, Spain, S. L., Knight, J., Ellinghaus, E., Stuart, P. E., Capon, F., et al. (2012) · Nature Genetics

Psoriasis: Treatment and PathogenesisGenetic Associations and Epidemiology

Cited by 1,024

Intragenic ERBB2 kinase mutations in tumours

Stephens, P., Hunter, C., Bignell, G., Edkins, S., Davies, H., Teague, J., Stevens, C., O'Meara, S., Smith, R., Parker, A., et al. (2004) · Nature

Lung Cancer Treatments and MutationsHER2/EGFR in Cancer Research

Cited by 802

Somatic mutations of the histone H3K27 demethylase gene UTX in human cancer

van Haaften, G., Dalgliesh, G. L., Davies, H., Chen, L., Bignell, G., Greenman, C., Edkins, S., Hardy, C., O'Meara, S., Teague, J., et al. (2009) · Nature Genetics

Epigenetics and DNA MethylationChromatin Remodeling and Cancer

Cited by 784

Signatures of mutation and selection in the cancer genome

Bignell, G. R., Greenman, C. D., Davies, H., Butler, A. P., Edkins, S., Andrews, J. M., Buck, G., Chen, L., Beare, D., Latimer, C., et al. (2010) · Nature

Cancer Genomics and DiagnosticsGenomic variations and chromosomal abnormalities

Cited by 707

High-density genetic mapping identifies new susceptibility loci for rheumatoid arthritis

Syndicate, B. I. R. A. G. A. G. S., Eyre, S., Wellcome Trust Case Control Consortium, Bowes, J., Diogo, D., Lee, A., Barton, A., Martin, P., Zhernakova, A., Stahl, E., et al. (2012) · Nature Genetics

Rheumatoid Arthritis Research and TherapiesGenetic Associations and Epidemiology

Cited by 653

Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture

Berndt, S. I., Gustafsson, S., Mägi, R., Ganna, A., Wheeler, E., Feitosa, M. F., Justice, A. E., Monda, K. L., Croteau-Chonka, D. C., Day, F. R., et al. (2013) · Nature Genetics

Genetic Associations and EpidemiologyGenetics and Physical Performance

Cited by 646

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

Tarpey, P. S., Smith, R., Pleasance, E., Whibley, A., Edkins, S., Hardy, C., O'Meara, S., Latimer, C., Dicks, E., Menzies, A., et al. (2009) · Nature Genetics

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 603

Excessive burden of lysosomal storage disorder gene variants in Parkinson’s disease

Robak, L. A., Jansen, I. E., van Rooij, J., Uitterlinden, A. G., Kraaij, R., Jankovic, J., Heutink, P., Shulman, J. M., International Parkinson’s Disease Genomics Consortium (IPDGC), Nalls, M. A., et al. (2017) · Brain

Lysosomal Storage Disorders ResearchParkinson's Disease Mechanisms and Treatments

Cited by 433

Chromosomally unstable mouse tumours have genomic alterations similar to diverse human cancers

Maser, R. S., Choudhury, B., Campbell, P. J., Feng, B., Wong, K.-K., Protopopov, A., O’Neil, J., Gutierrez, A., Ivanova, E., Perna, I., et al. (2007) · Nature

Cancer Genomics and DiagnosticsGenomic variations and chromosomal abnormalities

Cited by 377

Genetic evidence of assortative mating in humans

Robinson, M. R., Kleinman, A., Graff, M., Vinkhuyzen, A. A. E., Couper, D., Miller, M. B., Peyrot, W. J., Abdellaoui, A., Zietsch, B. P., Nolte, I. M., et al. (2017) · Nature Human Behaviour

Genetic Associations and EpidemiologyGenetic and phenotypic traits in livestock

Cited by 326

SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome

Gilfillan, G. D., Selmer, K. K., Roxrud, I., Smith, R., Kyllerman, M., Eiklid, K., Kroken, M., Mattingsdal, M., Egeland, T., Stenmark, H., et al. (2008) · The American Journal of Human Genetics

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 232

Recurrent KRAS codon 146 mutations in human colorectal cancer

Edkins, S., & O’Meara, S. (2006) · Cancer Biology & Therapy

Protein Kinase Regulation and GTPase SignalingGenetic factors in colorectal cancer

Cited by 229

Mutations in the DLG3 Gene Cause Nonsyndromic X-Linked Mental Retardation

Tarpey, P., Parnau, J., Blow, M., Woffendin, H., Bignell, G., Cox, C., Cox, J., Davies, H., Edkins, S., Holden, S., et al. (2004) · The American Journal of Human Genetics

Genetics and Neurodevelopmental DisordersDown syndrome and intellectual disability research

Cited by 176

The V617F JAK2 mutation is uncommon in cancers and in myeloid malignancies other than the classic myeloproliferative disorders

Scott, L. M., Campbell, P. J., Baxter, E. J., Todd, T., Stephens, P., Edkins, S., Wooster, R., Stratton, M. R., Futreal, P. A., & Green, A. R. (2005) · Blood

Myeloproliferative Neoplasms: Diagnosis and TreatmentAcute Myeloid Leukemia Research

Cited by 158

Not all SCN1A epileptic encephalopathies are Dravet syndrome: Early profound Thr226Met phenotype

Sadleir, L. G., Mountier, E. I., Gill, D., Davis, S., Joshi, C., DeVile, C., Kurian, M. A., Study, F. T. D., Mandelstam, S., Wirrell, E., et al. (2017) · Neurology

Epilepsy research and treatmentIon channel regulation and function

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Mutations in the gene encoding the Sigma 2 subunit of the adaptor protein 1 complex, AP1S2, cause X-linked mental retardation

Tarpey, P. S., Stevens, C., Teague, J., Edkins, S., O’Meara, S., Avis, T., Barthorpe, S., Buck, G., Butler, A., Cole, J., et al. (2006) · The American Journal of Human Genetics

Genetics and Neurodevelopmental DisordersCellular transport and secretion

Cited by 123

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 novel Gln358Glu mutation in ectodysplasin A associated with X-linked dominant incisor hypodontia.

Tarpey, P., Pemberton, T. J., Stockton, D. W., Das, P., Ninis, V., Edkins, S., Andrew Futreal, P., Wooster, R., Kamath, S., Nayak, R., et al. (2007) · American Journal of Medical Genetics Part A

dental development and anomaliesBone and Dental Protein Studies

Cited by 51