Wojcik, Monica H.

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies

Hamdan, F. F., Myers, C. T., Cossette, P., Lemay, P., Spiegelman, D., Laporte, A. D., Nassif, C., Diallo, O., Monlong, J., Cadieux-Dion, M., et al. (2017) · The American Journal of Human Genetics

Epilepsy research and treatmentGenetics and Neurodevelopmental Disorders

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Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures

Study, D. D. D. (., Zweier, M., Begemann, A., McWalter, K., Cho, M. T., Abela, L., Banka, S., Behring, B., Berger, A., Brown, C. W., et al. (2019) · European Journal of Human Genetics

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

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Advancing Understanding of Inequities in Rare Disease Genomics

Serrano, J. G., O'Leary, M., VanNoy, G. E., Mangilog, B. E., Holm, I. A., Fraiman, Y. S., Rehm, H. L., O'Donnell-Luria, A., & Wojcik, M. H. (2023) · Clinical Therapeutics

Genomics and Rare DiseasesEthics in Clinical Research

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