1. A second case of Okamoto syndrome caused by HNRNPK mutation. Issue 6 (28th March 2020) Authors: Maystadt, Isabelle; Deprez, Marie; Moortgat, Stéphanie; Benoît, Valérie; Karadurmus, Deniz Journal: American journal of medical genetics Issue: Volume 182:Issue 6(2020) Page Start: 1537 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. CDC20B is required for deuterosome-mediated centriole production in multiciliated cells. Issue 1 (December 2018) Authors: Revinski, Diego; Zaragosi, Laure-Emmanuelle; Boutin, Camille; Ruiz-Garcia, Sandra; Deprez, Marie; Thomé, Virginie; Rosnet, Olivier; Gay, Anne-Sophie; Mercey, Olivier; Paquet, Agnès; Pons, Nicolas; Ponzio, Gilles; Marcet, Brice; Kodjabachian, Laurent; Barbry, Pascal Journal: Nature communications Issue: Volume 9:Issue 1(2018) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Eight further individuals with intellectual disability and epilepsy carrying bi-allelic CNTNAP2 aberrations allow delineation of the mutational and phenotypic spectrum. Issue 12 (20th July 2016) Authors: Smogavec, Mateja; Cleall, Alison; Hoyer, Juliane; Lederer, Damien; Nassogne, Marie-Cécile; Palmer, Elizabeth E; Deprez, Marie; Benoit, Valérie; Maystadt, Isabelle; Noakes, Charlotte; Leal, Alejandro; Shaw, Marie; Gecz, Jozef; Raymond, Lucy; Reis, André; Shears, Deborah; Brockmann, Knut; Zweier, C... Journal: Journal of medical genetics Issue: Volume 53:Issue 12(2016) Page Start: 820 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy. (8th March 2016) Authors: Stamberger, Hannah; Nikanorova, Marina; Willemsen, Marjolein H.; Accorsi, Patrizia; Angriman, Marco; Baier, Hartmut; Benkel-Herrenbrueck, Ira; Benoit, Valérie; Budetta, Mauro; Caliebe, Almuth; Cantalupo, Gaetano; Capovilla, Giuseppe; Casara, Gianluca; Courage, Carolina; Deprez, Marie; Destrée, An... Journal: Neurology Issue: Volume 86:Number 10(2016) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗