Scott, Eric

Sensitive and specific multi-cancer detection and localization using methylation signatures in cell-free DNA

Liu, M. C., Oxnard, G. R., Klein, E. A., Swanton, C., Seiden, M. V., Liu, M. C., Oxnard, G. R., Klein, E. A., Smith, D., Richards, D., et al. (2020) · Annals of Oncology

Cancer Genomics and DiagnosticsEpigenetics and DNA Methylation

Cited by 1,495

De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly

Lee, J. H., Huynh, M., Silhavy, J. L., Kim, S., Dixon-Salazar, T., Heiberg, A., Scott, E., Bafna, V., Hill, K. J., Collazo, A., et al. (2012) · Nature Genetics

Fetal and Pediatric Neurological DisordersPI3K/AKT/mTOR signaling in cancer

Cited by 703

Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery

Greater Middle East Variome Consortium, Scott, E. M., Halees, A., Itan, Y., Spencer, E. G., He, Y., Azab, M. A., Gabriel, S. B., Belkadi, A., Boisson, B., et al. (2016) · Nature Genetics

Genomics and Rare DiseasesForensic and Genetic Research

Cited by 376

Mutations in BCKD-kinase Lead to a Potentially Treatable Form of Autism with Epilepsy

Novarino, G., El-Fishawy, P., Kayserili, H., Meguid, N. A., Scott, E. M., Schroth, J., Silhavy, J. L., Kara, M., Khalil, R. O., Ben-Omran, T., et al. (2012) · Science

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 320

Inactivating mutations in MFSD2A, required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome

Guemez-Gamboa, A., Nguyen, L. N., Yang, H., Zaki, M. S., Kara, M., Ben-Omran, T., Akizu, N., Rosti, R. O., Rosti, B., Scott, E., et al. (2015) · Nature Genetics

Barrier Structure and Function StudiesFatty Acid Research and Health

Cited by 225