Camille Perazzolo
Université Libre de Bruxelles(BE)
Publications by Year
Research Areas
Microtubule and mitosis dynamics, Genetic and Kidney Cyst Diseases, Genomic variations and chromosomal abnormalities, Pancreatic function and diabetes, Genetics and Neurodevelopmental Disorders
Most-Cited Works
- → FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly(2013)95 cited
- → Digenic inheritance of human primary microcephaly delineates centrosomal and non‐centrosomal pathways(2019)24 cited
- → TrkA mediates effect of novel KIDINS220 mutation in human brain ventriculomegaly(2020)20 cited
- → Phenotypes and genotypes in non‐consanguineous and consanguineous primary microcephaly: High incidence of epilepsy(2021)17 cited
- → Phenotypes in siblings with homozygous mutations of TRAPPC9 and/or MCPH1 support a bifunctional model of MCPH1(2018)15 cited
- → A Familial Heterozygous Null Mutation of MET in Autism Spectrum Disorder(2014)14 cited
- → Severe congenital microcephaly with AP4M1 mutation, a case report(2017)11 cited
- → In vivo imaging of calcium dynamics in zebrafish hepatocytes(2022)11 cited
- → Starvation-resistant cavefish reveal conserved mechanisms of starvation-induced hepatic lipotoxicity(2024)10 cited
- → Congenital hydrocephalus: new Mendelian mutations and evidence for oligogenic inheritance(2023)10 cited