Shlien, Adam

Analysis of 100,000 human cancer genomes reveals the landscape of tumor mutational burden

Chalmers, Z. R., Connelly, C. F., Fabrizio, D., Gay, L., Ali, S. M., Ennis, R., Schrock, A., Campbell, B., Shlien, A., Chmielecki, J., et al. (2017) · Genome Medicine

Cancer Immunotherapy and BiomarkersCancer Genomics and Diagnostics

Cited by 3,519

Mutational Processes Molding the Genomes of 21 Breast Cancers

Nik-Zainal, S., Alexandrov, L. B., Wedge, D. C., Van Loo, P., Greenman, C. D., Raine, K., Jones, D., Hinton, J., Marshall, J., Stebbings, L. A., et al. (2012) · Cell

Cancer Genomics and DiagnosticsChromatin Remodeling and Cancer

Cited by 1,909

Clinical and biological implications of driver mutations in myelodysplastic syndromes

Papaemmanuil, E., Gerstung, M., Malcovati, L., Tauro, S., Gundem, G., Van Loo, P., Yoon, C. J., Ellis, P., Wedge, D. C., Pellagatti, A., et al. (2013) · Blood

Acute Myeloid Leukemia ResearchCancer Genomics and Diagnostics

Cited by 1,832

The Life History of 21 Breast Cancers

Nik-Zainal, S., Van Loo, P., Wedge, D. C., Alexandrov, L. B., Greenman, C. D., Lau, K. W., Raine, K., Jones, D., Marshall, J., Ramakrishna, M., et al. (2012) · Cell

Cancer Genomics and DiagnosticsCancer Cells and Metastasis

Cited by 1,443

Somatic SF3B1 Mutation in Myelodysplasia with Ring Sideroblasts

Papaemmanuil, E., Cazzola, M., Boultwood, J., Malcovati, L., Vyas, P., Bowen, D., Pellagatti, A., Wainscoat, J. S., Hellstrom-Lindberg, E., Gambacorti-Passerini, C., et al. (2011) · New England Journal of Medicine

Acute Myeloid Leukemia ResearchRNA Research and Splicing

Cited by 1,222

Immune checkpoint inhibition for hypermutant glioblastoma multiforme resulting from germline biallelic mismatch repair deficiency

Bouffet, E., Larouche, V., Campbell, B. B., Merico, D., de Borja, R., Aronson, M., Durno, C., Krueger, J., Cabric, V., Ramaswamy, V., et al. (2016) · Journal of Clinical Oncology

Glioma Diagnosis and TreatmentCancer Immunotherapy and Biomarkers

Cited by 857

Extensive transduction of nonrepetitive DNA mediated by L1 retrotransposition in cancer genomes

Tubio, J. M. C., Li, Y., Ju, Y. S., Martincorena, I., Cooke, S. L., Tojo, M., Gundem, G., Pipinikas, C. P., Zamora, J., Raine, K., et al. (2014) · Science

Chromosomal and Genetic VariationsGenomic variations and chromosomal abnormalities

Cited by 412

Copy number variations and cancer

Shlien, A., & Malkin, D. (2009) · Genome Medicine

Genomic variations and chromosomal abnormalitiesCancer Genomics and Diagnostics

Cited by 386

Association of a germline copy number polymorphism of APOBEC3A and APOBEC3B with burden of putative APOBEC-dependent mutations in breast cancer

Nik-Zainal, S., Wedge, D. C., Alexandrov, L. B., Petljak, M., Butler, A. P., Bolli, N., Davies, H. R., Knappskog, S., Martin, S., Papaemmanuil, E., et al. (2014) · Nature Genetics

Cancer Genomics and DiagnosticsDNA Repair Mechanisms

Cited by 277

Mutational signatures of ionizing radiation in second malignancies

Behjati, S., Gundem, G., Wedge, D. C., Roberts, N. D., Tarpey, P. S., Cooke, S. L., Van Loo, P., Alexandrov, L. B., Ramakrishna, M., Davies, H., et al. (2016) · Nature Communications

Cancer Genomics and DiagnosticsDNA Repair Mechanisms

Cited by 274

Recurrent mutation of IGF signalling genes and distinct patterns of genomic rearrangement in osteosarcoma

Behjati, S., Tarpey, P. S., Haase, K., Ye, H., Young, M. D., Alexandrov, L. B., Farndon, S. J., Collord, G., Wedge, D. C., Martincorena, I., et al. (2017) · Nature Communications

Sarcoma Diagnosis and TreatmentBone Tumor Diagnosis and Treatments

Cited by 261

Copy number variations and cancer susceptibility

Shlien, A., & Malkin, D. (2010) · Current Opinion in Oncology

Genomic variations and chromosomal abnormalitiesCancer Genomics and Diagnostics

Cited by 77

Germline and somatic mutations in STXBP1 with diverse neurodevelopmental phenotypes

Uddin, M., Woodbury-Smith, M., Chan, A., Brunga, L., Lamoureux, S., Pellecchia, G., Yuen, R. K. C., Faheem, M., Stavropoulos, D. J., Drake, J., et al. (2017) · Neurology Genetics

Epilepsy research and treatmentGenetics and Neurodevelopmental Disorders

Cited by 57

ROME, an Ancient Gene with a Novel Function in Vertebrates, Is a Key Modulator of Embryonal Development and Cancer Metastasis

Molotkova, A., Deniz, E., Swift, M., Glasgow, E., Ma, J., Petro, J. A., Frye, I., Ozdemirli, M., Pesic, D., Ahern, G. P., et al. (2026) · Cancer Research Communications

Wnt/β-catenin signaling in development and cancerMechanisms of cancer metastasis

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