Olivier Vanakker

Olivier Vanakker

Ghent University - Ghent / Belgium
Others
AD Scientific Index ID: 1397745
Universiteit Gent
person_outline Olivier Vanakker's MOST POPULAR ARTICLES
1-) Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate exportA Legati, D Giovannini, G Nicolas, U López-Sánchez, B Quintáns, ...Nature genetics 47 (6), 579-581, 20152302015
2-) Mutation detection in the ABCC6 gene and genotype–phenotype analysis in a large international case series affected by pseudoxanthoma elasticumEG Pfendner, OM Vanakker, SF Terry, S Vourthis, PE McAndrew, ...Journal of medical genetics 44 (10), 621-628, 20072062007
3-) Pseudoxanthoma elasticum-like phenotype with cutis laxa and multiple coagulation factor deficiency represents a separate genetic entityOM Vanakker, L Martin, D Gheduzzi, BP Leroy, BL Loeys, VI Guerci, ...Journal of Investigative Dermatology 127 (3), 581-587, 20072062007
4-) Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminusG Beunders, E Voorhoeve, C Golzio, LM Pardo, JA Rosenfeld, ...The American Journal of Human Genetics 92 (2), 210-220, 20131862013
5-) Comprehensive molecular analysis demonstrates type V collagen mutations in over 90% of patients with classic EDS and allows to refine diagnostic criteriaS Symoens, D Syx, F Malfait, B Callewaert, J De Backer, O Vanakker, ...Human mutation 33 (10), 1485-1493, 20121812012