1. Accurate detection and quantification of epigenetic and genetic second hits in BRCA1 and BRCA2-associated hereditary breast and ovarian cancer reveals multiple co-acting second hits. (1st July 2018) Authors: Van Heetvelde, Mattias; Van Bockstal, Mieke; Poppe, Bruce; Lambein, Kathleen; Rosseel, Toon; Atanesyan, Lilit; Deforce, Dieter; Van Den Berghe, Ivo; De Leeneer, Kim; Van Dorpe, Jo; Vral, Anne; Claes, Kathleen B.M. Journal: Cancer letters Issue: Volume 425(2018) Page Start: 125 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Expanding the clinical spectrum and management of Traboulsi syndrome: report on two siblings homozygous for a novel pathogenic variant in ASPH. (4th July 2021) Authors: Van Hoorde, Tom; Nerinckx, Fanny; Kreps, Elke; Roels, Dimitri; Huyghe, Philippe; Van Heetvelde, Mattias; Verdin, Hannah; De Baere, Elfride; Balikova, Irina; Leroy, Bart P. Journal: Ophthalmic genetics Issue: Volume 42:Number 4(2021) Page Start: 493 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Flexible, Scalable, and Efficient Targeted Resequencing on a Benchtop Sequencer for Variant Detection in Clinical Practice. Issue 3 (13th March 2015) Authors: De Leeneer, Kim; Hellemans, Jan; Steyaert, Wouter; Lefever, Steve; Vereecke, Inge; Debals, Eveline; Crombez, Brecht; Baetens, Machteld; Van Heetvelde, Mattias; Coppieters, Frauke; Vandesompele, Jo; De Jaegher, Annelies; De Baere, Elfride; Coucke, Paul; Claes, Kathleen Journal: Human mutation Issue: Volume 36:Issue 3(2015:Mar.) Page Start: 379 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Flexible, Scalable, and Efficient Targeted Resequencing on a Benchtop Sequencer for Variant Detection in Clinical Practice. Issue 3 (March 2015) Authors: De Leeneer, Kim; Hellemans, Jan; Steyaert, Wouter; Lefever, Steve; Vereecke, Inge; Debals, Eveline; Crombez, Brecht; Baetens, Machteld; Van Heetvelde, Mattias; Coppieters, Frauke; Vandesompele, Jo; De Jaegher, Annelies; De Baere, Elfride; Coucke, Paul; Claes, Kathleen Journal: Human mutation Issue: Volume 36:Issue 3(2015:Mar.) Page Start: 379 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. ISOLATED MACULOPATHY AND MODERATE ROD–CONE DYSTROPHY REPRESENT THE MILDER END OF THE RDH12-RELATED RETINAL DYSTROPHY SPECTRUM. Issue 6 (June 2021) Authors: De Zaeytijd, Julie; Van Cauwenbergh, Caroline; De Bruyne, Marieke; Van Heetvelde, Mattias; De Baere, Elfride; Coppieters, Frauke; Leroy, Bart P. Journal: Retina Issue: Volume 41:Issue 6(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Mild Leber hereditary optic neuropathy (LHON) in a Western European family due to the rare Asian m.14502T>C variant in the MT-ND6 gene. (4th July 2021) Authors: Vandeputte, Justine; Van Heetvelde, Mattias; Van Cauwenbergh, Caroline; Seneca, Sara; De Baere, Elfride; Leroy, Bart P; De Zaeytijd, Julie Journal: Ophthalmic genetics Issue: Volume 42:Number 4(2021) Page Start: 440 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Mutational spectrum in a worldwide study of 29, 700 families with BRCA1 or BRCA2 mutations. Issue 5 (12th March 2018) Authors: Rebbeck, Timothy R.; Friebel, Tara M.; Friedman, Eitan; Hamann, Ute; Huo, Dezheng; Kwong, Ava; Olah, Edith; Olopade, Olufunmilayo I.; Solano, Angela R.; Teo, Soo‐Hwang; Thomassen, Mads; Weitzel, Jeffrey N.; Chan, TL; Couch, Fergus J.; Goldgar, David E.; Kruse, Torben A.; Palmero, Edenir Inêz; Par... Journal: Human mutation Issue: Volume 39:Issue 5(2018) Page Start: 593 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗