Pio D’Adamo

Somatic mosaic IDH1 and IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome

Twinkal C. Pansuriya, Ronald van Eijk, Pio D’Adamo et al. · Nature Genetics · 2011 · 546 citations · Full text

Developmental Biology, Somatic Variant, Genetic Disorder +8

Genetic Structure of Europeans: A View from the North–East

Mari Nelis, Tōnu Esko, Reedik Mägi et al. · PLoS ONE · 2009 · 432 citations · Full text

Genotype-phenotype Association, Molecular Ecology, Human Variation +15

MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion

Antonella Spinazzola, Carlo Viscomi, Erika Fernández‐Vizarra et al. · Nature Genetics · 2006 · 416 citations

Mitochondrial Biogenesis, Mitochondrial Function, Natural Sciences +7

Seventy-five genetic loci influencing the human red blood cell

Pim van der Harst, Weihua Zhang, Irene Mateo Leach et al. · Nature · 2012 · 329 citations · Full text

Seventy-five Genetic Loci, Genetics, Hematology +2

Efficient mitochondrial biogenesis drives incomplete penetrance in Leber’s hereditary optic neuropathy

Carla Giordano, Luisa Iommarini, Luca Giordano et al. · Brain · 2013 · 281 citations · Full text

Biology, Neurodegenerative Diseases, Molecular Neuroscience +14