Paola Ferrari

Mutations in PYCR1 cause cutis laxa with progeroid features

Bruno Reversade, Nathalie Escande‐Beillard, Aikaterini Dimopoulou et al. · Nature Genetics · 2009 · 253 citations · Full text

Life Sciences, Genetics, Molecular Genetics +5

Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith–Wiedemann syndrome

Jet Bliek, Gaetano Verde, Jonathan L A Callaway et al. · European Journal of Human Genetics · 2008 · 232 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Are strong opioids equally effective and safe in the treatment of chronic cancer pain? A multicenter randomized phase IV ‘real life’ trial on the variability of response to opioids

Oscar Corli, Irene Floriani, Mauro Montanari et al. · Annals of Oncology · 2016 · 151 citations · Full text

Medicine, Pharmacology, Pharmacotherapy +14

Homeotic Arm-to-Leg Transformation Associated with Genomic Rearrangements at the PITX1 Locus

Malte Spielmann, Francesco Brancati, Peter Krawitz et al. · The American Journal of Human Genetics · 2012 · 124 citations · Full text

Life Sciences, Developmental Biology, Genetics +16

Molecular Analysis, Pathogenic Mechanisms, and Readthrough Therapy on a Large Cohort of<scp>K</scp>abuki Syndrome Patients

Lucia Micale, Bartolomeo Augello, Claudia Maffeo et al. · Human Mutation · 2014 · 103 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16