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Molecular Genetics & Genomic Medicine|April 26, 2018
Phenotypes in siblings with homozygous mutations of TRAPPC9 and/or MCPH1 support a bifunctional model of MCPH1Sarah Duerinckx, Marije Meuwissen, Camille Perazzolo, et al.Hepatology (Baltimore, Md.)|July 13, 2022
In vivo imaging of calcium dynamics in zebrafish hepatocytesMacarena Pozo-Morales, Inés Garteizgogeascoa, Camille Perazzolo, et al.BMC Medical Genetics|May 4, 2017
Severe congenital microcephaly with AP4M1 mutation, a case reportSarah Duerinckx, Helene Verhelst, Camille Perazzolo, et al.Human Molecular Genetics|November 18, 2020
TrkA mediates effect of novel KIDINS220 mutation in human brain ventriculomegalyValerie Jacquemin, Mathieu Antoine, Sarah Duerinckx, et al.Biorxiv : the Preprint Server for Biology|January 23, 2024
Starvation resistant cavefish reveal conserved mechanisms of starvation-induced hepatic lipotoxicityMacarena Pozo-Morales, Ansa E Cobham, Cielo Centola, et al.Life Science Alliance|March 11, 2024
Starvation-resistant cavefish reveal conserved mechanisms of starvation-induced hepatic lipotoxicityMacarena Pozo-Morales, Ansa E Cobham, Cielo Centola, et al.Autism Research : Official Journal of the International Society for Autism Research|June 10, 2014
A familial heterozygous null mutation of MET in autism spectrum disorderNelle Lambert, Vanessa Wermenbol, Bruno Pichon, et al.Journal of Medical Genetics|July 2, 2013
FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactylyNicolas Simonis, Isabelle Migeotte, Nelle Lambert, et al.Human Genomics|March 1, 2023
Congenital hydrocephalus: new Mendelian mutations and evidence for oligogenic inheritanceValerie Jacquemin, Nassim Versbraegen, Sarah Duerinckx, et al.Human Mutation|November 8, 2019
Digenic inheritance of human primary microcephaly delineates centrosomal and non-centrosomal pathwaysSarah Duerinckx, Valérie Jacquemin, Séverine Drunat, et al.Pageof 2