Researcher
Geert Mortier
- Disciplines:Neonatology, Epigenetics, Paediatrics, Paediatrics and neonatology not elsewhere classified, Immunogenetics, Clinical genetics and molecular diagnostics, Medical epigenomics, Medical metagenomics, Medical genomics, Genetics
Affiliations
- Department of Pediatrics and medical genetics (Department)
Member
From1 Oct 2000 → 30 Sep 2015
Projects
1 - 6 of 6
- Elucidation of the genetic defect in sporadic melorheostosis and study of the precise role of LEMD3 in bone homeostasisFrom1 Jan 2009 → 31 Dec 2012Funding: BOF - Doctoral projects
- Identification of the genetic defect in sporadic melorheostosis by means of whole exome sequencingFrom1 Jan 2009 → 31 Dec 2009Funding: Foreign foundations, funds with scientific view
- Identification of causal mutations in patients with unexplained mental retardation and congenital abnormalities by high throughput sequencing of selected candidate genesFrom1 Oct 2008 → 30 Sep 2012Funding: BOF - Other initiatives, FWO fellowships
- Anlaysis of the genetic defect in melorheostosis and the study of the molecular and biological effects of LEMD3 haploinsufficiencyFrom1 Oct 2007 → 30 Sep 2010Funding: BOF - Other initiatives, FWO fellowships
- Pathophysiology of the Cartilage Growth PlateFrom1 May 2007 → 1 May 2010Funding: LIFE (Biomedical Sciences, Genomics and Biotechnology for Health)
- Study on the envolvement of LEMD3 and neighbouring genes on 12q14 in the pathogenesis of conditions with elevated bone density and growth disordesFrom1 Jan 2007 → 30 Dec 2012Funding: FWO research project (including WEAVE projects)
Publications
1 - 10 of 88
- Stickler syndrome: comprehensive clinical and molecular analysis(2016)
Authors: Olivier Vanakker, Kristien Hoornaert, Geert Mortier, Els De Leenheer, Fransiska Malfait
Number of pages: 1 - Novel pathogenic COL11A1/COL11A2 variants in Stickler syndrome detected by targeted NGS and exome sequencing(2014)
Authors: Fransiska Malfait, Olivier Vanakker, Wouter Steyaert, Geert Mortier, Els De Leenheer
Pages: 230 - 235 - Mate pair sequencing for the detection of chromosomal aberrations in patients with intellectual disability and congenital malformations(2014)
Authors: Sarah Vergult, Ellen Van Binsbergen, Tom Sante, Silke Nowak, Olivier Vanakker, Bruce Poppe, Nathalie Van der Aa, Markus J van Roosmalen, Karen Duran, Masoumeh Tavakoli-Yaraki, et al.
Pages: 652 - 659 - Complex genetics of radial ray deficiencies: screening of a cohort of 54 patients(2013)
Authors: Sarah Vergult, A Jeannette M Hoogeboom, Emilia K Bijlsma, Tom Sante, Eva Klopocki, Marjolijn Jongmans, Christian Thiel, Joke BGM Verheij, Antonio Perez-Aytes, Hilde Van Esch, et al.
Pages: 195 - 202 - Novel COL11A1 mutations in Stickler syndrome detected by next-generation sequencing(2013)
Authors: Fransiska Malfait, Olivier Vanakker, Wouter Steyaert, Geert Mortier, Els De Leenheer
Number of pages: 1 - Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus(2013)
Authors: Gea Beunders, Els Voorhoeve, Christelle Golzio, Luba M Pardo, Jill A Rosenfeld, Michael E Talkowski, Ingrid Simonic, Anath C Lionel, Sarah Vergult, Robert E Pyatt, et al.
Pages: 210 - 220 - Matepair sequencing for the detection of chromosomal aberrations in patients with intellectual disability and congenital malformations(2013)
Authors: Sarah Vergult, Ellen Van Binsbergen, Tom Sante, Silke Nowak, Olivier Vanakker, Bruce Poppe, Nathalie Van der Aa, MJ Van Roosmalen, K Duran, M Tavakoli-Yaraki, et al.
Number of pages: 1 - Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome(2013)
Authors: Fransiska Malfait, Nathalie Goemans, Yolanda Gyftodimou, Eva Holmberg, Vanesa Lopez-Gonzalez, Geert Mortier, Sheela Nampoothiri, Michael Bjorn Petersen
- Matepair sequencing for the detection of chromosomal aberrations in patients with intellectual disability and congenital malformations(2012)
Authors: Sarah Vergult, Ellen Van Binsbergen, Tom Sante, Silke Nowak, Olivier Vanakker, Bruce Poppe, Nathalie Van der Aa, MJ Van Roosmalen, K Duran, M Tavakoli-Yaraki, et al.
Number of pages: 1 - Off-chip beam steering using optical phased arrays on silicon-on-insulator(2011)
Authors: Karel Van Acoleyen, Katarzyna Komorowska, Wim Bogaerts, Roel Baets, Peter Bienstman, Geert Mortier, Günther Roelkens, Marie Verbist
Pages: 133 - 136