Concepedia

Camille Perazzolo

CP

10

Publications

227

Citations

10

H-Index

2013

Active since

Affiliations

Université Libre de Bruxelles(Current)

Erasmus Hospital

Ghent University Hospital

University of Geneva

Antwerp University Hospital

Camille Perazzolo is an author at Université Libre de Bruxelles specializing in developmental genetics, neurogenetics, and genetics.

Top concepts

Publications per year

2013–2024

10

Publications

10

<i>FGFR1</i> mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly

Nicolas Simonis, Isabelle Migeotte, Nelle Lambert et al. · Journal of Medical Genetics · 2013 · 95 citations · Full text

Digenic inheritance of human primary microcephaly delineates centrosomal and non‐centrosomal pathways

Sarah Duerinckx, Valérie Jacquemin, Séverine Drunat et al. · Human Mutation · 2019 · 24 citations · Full text

, , +19

TrkA mediates effect of novel KIDINS220 mutation in human brain ventriculomegaly

Valérie Jacquemin, Mathieu Antoine, Sarah Duerinckx et al. · Human Molecular Genetics · 2020 · 20 citations · Full text

Phenotypes and genotypes in non‐consanguineous and consanguineous primary microcephaly: High incidence of epilepsy

Sarah Duerinckx, Julie Désir, Camille Perazzolo et al. · Molecular Genetics & Genomic Medicine · 2021 · 17 citations · Full text

Phenotypes in siblings with homozygous mutations of <i><scp>TRAPPC</scp>9</i> and/or <i><scp>MCPH</scp>1</i> support a bifunctional model of <scp>MCPH</scp>1

Sarah Duerinckx, Marije Meuwissen, Camille Perazzolo et al. · Molecular Genetics & Genomic Medicine · 2018 · 15 citations · Full text

Rows per page

1–5 of 10