Researcher
Francesca Cristofoli
- Disciplines:Genetics, Systems biology, Molecular and cell biology
Affiliations
- Department of Human Genetics (Department)
Member
From9 Oct 2017 → 22 Oct 2017 - Laboratory for Cytogenetics and Genome Research (Division)
Member
From1 Nov 2011 → 30 Sep 2018
Projects
1 - 1 of 1
- Identification and functional characterization of novel genes causing syndromic microcephaly.From16 Nov 2011 → 8 Feb 2018Funding: FWO fellowships
Publications
1 - 10 of 16
- Novel CASK mutations in cases with syndromic microcephaly(2018)
Authors: Francesca Cristofoli, Koenraad Devriendt, Hilde Van Esch, Joris Vermeesch
Pages: 993 - 1001 - Identification and functional characterization of novel genes causing syndromic microcephaly(2018)
Authors: Francesca Cristofoli, Joris Vermeesch, Eve Seuntjens, Hilde Van Esch
Number of pages: 191 - Optic Nerve Hypoplasia Is a Pervasive Subcortical Pathology of Visual System in Neonates (vol 58, pg 5485, 2017)(2017)
Authors: Chen Ihang, Alicia Kerr, Yangfengzhong Qiu, Francesca Cristofoli, Hilde Van Esch, Michael A Fox, Konark Mukherjee
Pages: 5833 - 5833 - Novel STIL Compound Heterozygous Mutations Cause Severe Fetal Microcephaly and Centriolar Lengthening(2017)
Authors: Francesca Cristofoli, Bart De Keersmaecker, Luc De Catte, Joris Vermeesch, Hilde Van Esch
Pages: 282 - 293 - Optic Nerve Hypoplasia Is a Pervasive Subcortical Pathology of Visual System in Neonates(2017)
Authors: Francesca Cristofoli, Hilde Van Esch
Pages: 5485 - 5496 - CREBBP mutations in individuals without Rubinstein-Taybi syndrome phenotype(2016)
Authors: Francesca Cristofoli, Hilde Peeters
Pages: 2681 - 2693 - Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID(2016)
Authors: B W M van Bon, B P Coe, R Bernier, C Green, J Gerdts, K Witherspoon, T Kleefstra, M H Willemsen, R Kumar, P Bosco, et al.
Pages: 126 - 32 - Polymerase specific error rates and profiles identified by single molecule sequencing(2016)
Authors: Matthew Hestand, Jeroen Van Houdt, Francesca Cristofoli, Joris Vermeesch
Pages: 39 - 45 - Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID(2016)
Authors: Francesca Cristofoli, Hilde Peeters
Pages: 126 - 32 - Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type(2015)
Authors: Mala Isrie, Francesca Cristofoli, Alejandro Sifrim, Joris Vermeesch, Hilde Van Esch
Pages: 790 - 800