Papuc, Sorina M.

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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Plasma metabolomics reveals a diagnostic metabolic fingerprint for mitochondrial aconitase (ACO2) deficiency

Abela, L., Spiegel, R., Crowther, L. M., Klein, A., Steindl, K., Papuc, S. M., Joset, P., Zehavi, Y., Rauch, A., Plecko, B., et al. (2017) · PLoS ONE

Metabolism and Genetic DisordersMitochondrial Function and Pathology

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