Pippucci, Tommaso

Consanguineous marriages, pearls and perils: Geneva International Consanguinity Workshop Report

Hamamy, H., Antonarakis, S. E., Cavalli-Sforza, L. L., Temtamy, S., Romeo, G., Ten Kate, L. P., Bennett, R. L., Shaw, A., Megarbane, A., van Duijn, C., et al. (2011) · Genetics in Medicine

Marriage and Family DynamicsGenomics and Rare Diseases

Cited by 345

Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy

Ricos, M. G., Hodgson, B. L., Pippucci, T., Saidin, A., Ong, Y. S., Heron, S. E., Licchetta, L., Bisulli, F., Bayly, M. A., Hughes, J., et al. (2016) · Annals of Neurology

Epilepsy research and treatmentTuberous Sclerosis Complex Research

Cited by 246

GATOR1 complex: the common genetic actor in focal epilepsies

Baldassari, S., Licchetta, L., Tinuper, P., Bisulli, F., & Pippucci, T. (2016) · Journal of Medical Genetics

Epilepsy research and treatmentTuberous Sclerosis Complex Research

Cited by 80

De novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformations

Dias, K.-R., Carlston, C. M., Blok, L. E. R., De Hayr, L., Nawaz, U., Evans, C.-A., Bayrak-Toydemir, P., Htun, S., Zhu, Y., Ma, A., et al. (2022) · Genetics in Medicine

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 13