Schroth, Jana

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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Subcellular spatial regulation of canonical Wnt signalling at the primary cilium

Lancaster, M. A., Schroth, J., & Gleeson, J. G. (2011) · Nature Cell Biology

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

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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

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