EXCAVATOR: detecting copy number variants from whole-exome sequencing dataAlberto Magi, Gian Franco Gensini, Cristina Battaglia et al.|Genome biology|2013Cited by 240
Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital ArthrogryposisPamela Magini, Tommaso Pippucci, Daphne J. Smits et al.|The American Journal of Human Genetics|2019Cited by 85
A mutation in PAK3 with a dual molecular effect deregulates the RAS/MAPK pathway and drives an X-linked syndromic phenotypePamela Magini, Marco Seri|Human Molecular Genetics|2014Cited by 39