Researcher
Jean-Pierre Frijns
- Disciplines:Medical imaging and therapy, Other paramedical sciences, Genetics, Systems biology, Molecular and cell biology
Affiliations
- Department of Human Genetics (Department)
Member
From1 Oct 1999 → 30 Sep 2016
Projects
1 - 1 of 1
- COPHES. European coordination action on human biomonitoring.From1 Dec 2009 → 30 Nov 2012Funding: General Activities (Annex IV)
Publications
1 - 10 of 169
- Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder(2019)
Authors: Molka Kammoun, Jean-Pierre Frijns, Joris Vermeesch, Koenraad Devriendt
Pages: 1748 - 1768 - ZNF462 and KLF12 are disrupted by a de novo translocation in a patient with syndromic intellectual disability and autism spectrum disorder(2018)
Authors: Nele Cosemans, Laura Vandenhove, Jarymke Maljaars, Hilde Van Esch, Koenraad Devriendt, Jean-Pierre Frijns, Ilse Noens, Hilde Peeters
Pages: 376 - 383 - Delusional and psychotic disorders in Juvenile Myotonic dystrophy Type-1(2017)
Authors: Delphine Jacobs, Jean-Pierre Frijns, Jean Steyaert
Pages: 359 - 366 - Tentative clinical diagnosis of Lujan-Fryns syndrome-A conglomeration of different genetic entities?(2016)
Authors: Jean-Pierre Frijns
Pages: 94 - 102 - X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes(2016)
Authors: Hilde Van Esch, Guy Froyen, Jean-Pierre Frijns, Koenraad Devriendt
Pages: 133 - 48 - L1CAM and X-linked Hydrocephalus (L1 syndrome)(2016)
Authors: Jean-Pierre Frijns
Pages: 957 - 969 - Clinical utility gene card for: Aarskog-Scott Syndrome (faciogenital dysplasia)(2015)
Authors: Jean-Pierre Frijns
- Tetralogy of Fallot with coronary artery to pulmonary artery fistula(2014)
Authors: Ingrid Witters, Jean-Pierre Frijns, Marcella Baldewijns
Pages: 1345 - 6 - Evidence for increased SOX3 dosage as a risk factor for X-linked hypopituitarism and neural tube defects(2014)
Authors: Marijke Bauters, Hilde Van Esch, Marcella Baldewijns, Jean-Pierre Frijns, Peter Marynen, Guy Froyen
Pages: 1947 - 52 - A prospective study of the clinical utility of prenatal chromosomal microarray analysis in fetuses with ultrasound abnormalities and an exploration of a framework for reporting unclassified variants and risk factors(2014)
Authors: Paul Brady, Gabrielle Christenhusz, Kris Dierickx, Kris Van Den Bogaert, Luc De Catte, Jan Deprest, Thomy de Ravel de l'Argentière, Hilde Van Esch, Jean-Pierre Frijns, Koenraad Devriendt, et al.
Pages: 469 - 76