Tommaso Pippucci

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

Hanan Hamamy, Stylianos E. Antonarakis, Luigi Luca Cavalli-Sforza et al. · Genetics in Medicine · 2011 · 340 citations · Full text

Social Sciences, Maternal Health, Sexuality Studies +11

Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families

Patrizia Noris, Silverio Perrotta, Marco Seri et al. · Blood · 2011 · 292 citations · Full text

Medicine, Genetics, Hematology +12

ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population

Elisa Benetti, Rossella Tita, Ottavia Spiga et al. · European Journal of Human Genetics · 2020 · 270 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

EXCAVATOR: detecting copy number variants from whole-exome sequencing data

Alberto Magi, Lorenzo Tattini, Ingrid Cifola et al. · Genome biology · 2013 · 240 citations · Full text

Life Sciences, Bioinformatics, Genetics +17

The landscape of epilepsy-related GATOR1 variants

Sara Baldassari, Fabienne Picard, Nienke E. Verbeek et al. · Genetics in Medicine · 2018 · 239 citations · Full text

Medicine, Genetics, Molecular Genetics +17