Flavia Palombo

Mutations in the mammalian target of rapamycin pathway regulators <i>NPRL2</i> and <i>NPRL3</i> cause focal epilepsy

Michael G. Ricos, Bree Hodgson, Tommaso Pippucci et al. · Annals of Neurology · 2015 · 229 citations · Full text

Impaired complex I repair causes recessive Leber’s hereditary optic neuropathy

Sarah L. Stenton, Claudia B. Catarino, N.A. Andreeva et al. · Journal of Clinical Investigation · 2021 · 144 citations · Full text

Clinical and pathogenic features of <i>ETV6</i> -related thrombocytopenia with predisposition to acute lymphoblastic leukemia

Federica Melazzini, Flavia Palombo, Alessandra Balduini et al. · Haematologica · 2016 · 104 citations · Full text

Mixed-phenotype Acute Leukemia, Genetics, Immunology +17

<i>H</i> 3  <i>M</i> 2 : detection of runs of homozygosity from whole-exome sequencing data

Alberto Magi, Lorenzo Tattini, Flavia Palombo et al. · Bioinformatics · 2014 · 103 citations · Full text

A Novel Null Homozygous Mutation Confirms CACNA2D2 as a Gene Mutated in Epileptic Encephalopathy

Tommaso Pippucci, Antonia Parmeggiani, Flavia Palombo et al. · PLoS ONE · 2013 · 95 citations · Full text

Neurogenomics, Genetics, Molecular Genetics +21