Miedzybrodzka, Zosia

Cancer Risks for BRCA1 and BRCA2 Mutation Carriers: Results From Prospective Analysis of EMBRACE

Mavaddat, N., Peock, S., Frost, D., Ellis, S., Platte, R., Fineberg, E., Evans, D. G., Izatt, L., Eeles, R. A., Adlard, J., et al. (2013) · JNCI: Journal of the National Cancer Institute

BRCA gene mutations in cancerMultiple and Secondary Primary Cancers

Cited by 951

Evidence for 28 genetic disorders discovered by combining healthcare and research data

Kaplanis, J., Samocha, K. E., Wiel, L., Zhang, Z., Arvai, K. J., Eberhardt, R. Y., Gallone, G., Lelieveld, S. H., Martin, H. C., McRae, J. F., et al. (2020) · Nature

Genomics and Rare DiseasesGenetics and Neurodevelopmental Disorders

Cited by 615

Identification of genetic variants associated with Huntington's disease progression: a genome-wide association study

Moss, D. J. H., Pardiñas, A. F., Langbehn, D., Lo, K., Leavitt, B. R., Roos, R., Durr, A., Mead, S., Coleman, A., Santos, R. D., et al. (2017) · The Lancet Neurology

Genetic Neurodegenerative DiseasesGenetic Associations and Epidemiology

Cited by 312

Deregulation of EIF4E: a novel mechanism for autism

Neves-Pereira, M., Müller, B., Massie, D., Williams, J. H. G., O’Brien, P. C. M., Hughes, A., Shen, S.-B., Clair, D. S., & Miedzybrodzka, Z. (2009) · Journal of Medical Genetics

Genetics and Neurodevelopmental DisordersAutism Spectrum Disorder Research

Cited by 142

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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Prevalence, phenotype and architecture of developmental disorders caused by de novo mutation: The Deciphering Developmental Disorders Study

McRae, J. F., Clayton, S., Fitzgerald, T. W., Kaplanis, J., Prigmore, E., Rajan, D., Sifrim, A., Aitken, S., Akawi, N., Alvi, M., et al. (2016) · bioRxiv (Cold Spring Harbor Laboratory)

Genomics and Rare DiseasesGenetics and Neurodevelopmental Disorders

Cited by 30