GDF5 mutation case report and a systematic review of molecular and clinical spectrum: Expanding current knowledge on genotype-phenotype correlationsMaria Luce Genovesi, Viviana Caputo, Pietro Palumbo et al.|Bone|2020Cited by 14
Prenatal whole exome sequencing detects a new homozygous fukutin <i>(FKTN)</i> mutation in a fetus with an ultrasound suspicion of familial Dandy–Walker malformationAlice Traversa, Antonio Pizzuti, Maria Luce Genovesi et al.|Molecular Genetics & Genomic Medicine|2019Cited by 6