1. Bi-allelic mutations in COL3A1 encoding the ligand to GPR56 are associated with cobblestone-like cortical malformation, white matter changes and cerebellar cysts. (June 2017) Authors: Jansen, Anna C.; Vandervore, Laura; Tanyalçin, Ibrahim; Vanderhasselt, Tim; Roelens, Filip; Holder-Espinasse, Muriel; Jørgensen, Agnete; Pepin, Melanie G.; Petit, Florence; Van Kien, Philippe Khau; Bahi-Buisson, Nadia; Lissens, Willy; Gheldof, Alexander; Byers, Peter H.; Stouffs, Katrien Journal: European journal of paediatric neurology Issue: Volume 21(2017)Supplement 1 Page Start: e61 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Bi-allelic variants in COL3A1 encoding the ligand to GPR56 are associated with cobblestone-like cortical malformation, white matter changes and cerebellar cysts. Issue 6 (3rd March 2017) Authors: Vandervore, Laura; Stouffs, Katrien; Tanyalçin, Ibrahim; Vanderhasselt, Tim; Roelens, Filip; Holder-Espinasse, Muriel; Jørgensen, Agnete; Pepin, Melanie G; Petit, Florence; Khau Van Kien, Philippe; Bahi-Buisson, Nadia; Lissens, Willy; Gheldof, Alexander; Byers, Peter H; Jansen, Anna C Journal: Journal of medical genetics Issue: Volume 54:Issue 6(2017) Page Start: 432 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Chudley-McCullough Syndrome: A Recognizable Clinical Entity Characterized by Deafness and Typical Brain Malformations. (February 2021) Authors: Blauen, Aglaë; Stutterd, Chloe A.; Stouffs, Katrien; Dumitriu, Dana; Deggouj, Naima; Lockhart, Paul J.; Leventer, Richard J.; Nassogne, Marie-Cécile; Jansen, Anna C. Journal: Journal of child neurology Issue: Volume 36:Number 2(2021) Page Start: 152 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Clinical implementation of gene panel testing for lysosomal storage diseases. Issue 2 (11th December 2018) Authors: Gheldof, Alexander; Seneca, Sara; Stouffs, Katrien; Lissens, Willy; Jansen, Anna; Laeremans, Hilde; Verloo, Patrick; Schoonjans, An‐Sofie; Meuwissen, Marije; Barca, Diana; Martens, Geert; De Meirleir, Linda Journal: Molecular genetics & genomic medicine Issue: Volume 7:Issue 2(2019) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Convert your favorite protein modeling program into a mutation predictor: "MODICT". Issue 1 (December 2016) Authors: Tanyalcin, Ibrahim; Stouffs, Katrien; Daneels, Dorien; Al Assaf, Carla; Lissens, Willy; Jansen, Anna; Gheldof, Alexander Journal: BMC bioinformatics Issue: Volume 17:Issue 1(2016) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. De novo missense variants in LMBRD2 are associated with developmental and motor delays, brain structure abnormalities and dysmorphic features. Issue 10 (20th August 2020) Authors: Malhotra, Alka; Ziegler, Alban; Shu, Li; Perrier, Renee; Amlie-Wolf, Louise; Wohler, Elizabeth; Lygia de Macena Sobreira, Nara; Colin, Estelle; Vanderver, Adeline; Sherbini, Omar; Stouffs, Katrien; Scalais, Emmanuel; Serretti, Alessandro; Barth, Magalie; Navet, Benjamin; Rollier, Paul; Xi, Hui; W... Journal: Journal of medical genetics Issue: Volume 58:Issue 10(2021) Page Start: 712 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Defining the phenotypical spectrum associated with variants in TUBB2A. Issue 1 (22nd June 2020) Authors: Brock, Stefanie; Vanderhasselt, Tim; Vermaning, Sietske; Keymolen, Kathelijn; Régal, Luc; Romaniello, Romina; Wieczorek, Dagmar; Storm, Tim Matthias; Schaeferhoff, Karin; Hehr, Ute; Kuechler, Alma; Krägeloh-Mann, Ingeborg; Haack, Tobias B; Kasteleijn, Esmee; Schot, Rachel; Mancini, Grazia Maria S... Journal: Journal of medical genetics Issue: Volume 58:Issue 1(2021) Page Start: 33 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Functional analysis of the F337C mutation in the CLCN1 gene associated with dominant myotonia congenita reveals an alteration of the macroscopic conductance and voltage dependence. Issue 2 (28th January 2021) Authors: Jehasse, Kevin; Jacquerie, Kathleen; de Froidmont, Alice; Lemoine, Camille; Grisar, Thierry; Stouffs, Katrien; Lakaye, Bernard; Seutin, Vincent Journal: Molecular genetics & genomic medicine Issue: Volume 9:Issue 2(2021) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Genetic heterogeneity of polymicrogyria: study of 123 patients using deep sequencing. Issue 1 (26th December 2020) Authors: Stutterd, Chloe A; Brock, Stefanie; Stouffs, Katrien; Fanjul-Fernandez, Miriam; Lockhart, Paul J; McGillivray, George; Mandelstam, Simone; Pope, Kate; Delatycki, Martin B; Jansen, Anna; Leventer, Richard J Journal: Brain communications Issue: Volume 3:Issue 1(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Male Infertility: Genetics, Mechanism, and Therapies. (31st January 2016) Authors: Coutton, Charles; Fissore, Rafael A.; Palermo, Gianpiero D.; Stouffs, Katrien; Touré, Aminata Journal: BioMed research international Issue: Volume 2016(2016) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗