Salvatore Savasta

Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy

Lionel Van Maldergem, J. Magre, T. E. Khallouf et al. · Journal of Medical Genetics · 2002 · 249 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

Vincenzo Salpietro, Christine L. Dixon, Hui Guo et al. · Nature Communications · 2019 · 249 citations · Full text

Life Sciences, Genetics, Neuroscience +17

Infantile Encephalopathy and Defective Mitochondrial DNA Translation in Patients with Mutations of Mitochondrial Elongation Factors EFG1 and EFTu

Lucia Valente, Valeria Tiranti, Renè Massimiliano Marsano et al. · The American Journal of Human Genetics · 2006 · 204 citations · Full text

Life Sciences, Genetics, Molecular Biology +16

Phenotype and genotype of 87 patients with Mowat–Wilson syndrome and recommendations for care

Ivan Ivanovski, Olivera Djurić, Stefano Giuseppe Caraffi et al. · Genetics in Medicine · 2018 · 109 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

MCM5: a new actor in the link between DNA replication and Meier-Gorlin syndrome

Annalisa Vetro, Salvatore Savasta, Annalisa Russo Raucci et al. · European Journal of Human Genetics · 2017 · 77 citations · Full text

Life Sciences, Genetics, Molecular Biology +10