Boelman, Cyrus

Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test

Lionel, A. C., Costain, G., Monfared, N., Walker, S., Reuter, M. S., Hosseini, S. M., Thiruvahindrapuram, B., Merico, D., Jobling, R., Nalpathamkalam, T., et al. (2018) · Genetics in Medicine

Genomics and Rare DiseasesPrenatal Screening and Diagnostics

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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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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

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