Silhavy, Jennifer L

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

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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

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SRD5A3 Is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder

Cantagrel, V., Lefeber, D. J., Ng, B. G., Guan, Z., Silhavy, J. L., Bielas, S. L., Lehle, L., Hombauer, H., Adamowicz, M., Swiezewska, E., et al. (2010) · Cell

Glycosylation and Glycoproteins ResearchGlycogen Storage Diseases and Myoclonus

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Impaired Wnt–β-catenin signaling disrupts adult renal homeostasis and leads to cystic kidney ciliopathy

Lancaster, M. A., Louie, C. M., Silhavy, J. L., Sintasath, L., DeCambre, M., Nigam, S. K., Willert, K., & Gleeson, J. G. (2009) · Nature Medicine

Genetic and Kidney Cyst DiseasesWnt/β-catenin signaling in development and cancer

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