Olivier Vanakker

Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export

Andrea Legati, Donatella Giovannini, Gaël Nicolas et al. · Nature Genetics · 2015 · 306 citations · Full text

Neurodegenerative Diseases, Altered Phosphate Export, Mendelian Disorder +6

Pseudoxanthoma Elasticum-Like Phenotype with Cutis Laxa and Multiple Coagulation Factor Deficiency Represents a Separate Genetic Entity

Olivier Vanakker, Ludovic Martin, Dealba Gheduzzi et al. · Journal of Investigative Dermatology · 2006 · 197 citations · Full text

Cutis Laxa, Genetics, Pathogenesis +8

Exonic Deletions in AUTS2 Cause a Syndromic Form of Intellectual Disability and Suggest a Critical Role for the C Terminus

Gea Beunders, Els Voorhoeve, Christelle Golzio et al. · The American Journal of Human Genetics · 2013 · 185 citations · Full text

Exonic Deletions, Developmental Biology, Molecular Neuroscience +7

Comprehensive molecular analysis demonstrates type V collagen mutations in over 90% of patients with classic EDS and allows to refine diagnostic criteria

Sofie Symoens, Delfien Syx, Fransiska Malfait et al. · Human Mutation · 2012 · 161 citations

Genetics, Pathology, Disease Gene Identification +16

Mutations in CDC45 , Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis

Aimée L Fenwick, Maciej Kliszczak, Fay Cooper et al. · The American Journal of Human Genetics · 2016 · 116 citations · Full text

Developmental Biology, Mendelian Disorder, Genetic Disorder +9