1. A novel missense variant in SLC18A2 causes recessive brain monoamine vesicular transport disease and absent serotonin in platelets. Issue 1 (25th March 2019) Authors: Padmakumar, Manisha; Jaeken, Jaak; Ramaekers, Vincent; Lagae, Lieven; Greene, Daniel; Thys, Chantal; Van Geet, Chris; BioResource, NIHR; Stirrups, Kathleen; Downes, Kate; Turro, Ernest; Freson, Kathleen Journal: JIMD reports Issue: Volume 47:Issue 1(2019) Page Start: 9 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. De novo variant in tyrosine kinase SRC causes thrombocytopenia: case report of a second family. (3rd October 2019) Authors: De Kock, Lore; Thys, Chantal; Downes, Kate; Duarte, Daniel; Megy, Karyn; Van Geet, Chris; Freson, Kathleen Journal: Platelets Issue: Volume 30:Number 7(2019) Page Start: 931 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Methylome analysis for haemophilia A intron 22 inversion patients with and without inhibitors: A pilot study. Issue 6 (16th August 2022) Authors: Izzi, Benedetta; Thys, Chantal; Tirozzi, Alfonsina; Bezulska‐Ditkowska, Martyna; De Reys, Mara; Labarque, Veerle; Van Geet, Chris; Peerlinck, Kathelijne; Freson, Kathleen Journal: Haemophilia Issue: Volume 28:Issue 6(2022) Page Start: e248 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Platelet studies in autism spectrum disorder patients and first-degree relatives. Issue 1 (December 2015) Authors: Bijl, Nora; Thys, Chantal; Wittevrongel, Christine; De la Marche, Wouter; Devriendt, Koenraad; Peeters, Hilde; Van Geet, Chris; Freson, Kathleen Journal: Molecular autism Issue: Volume 6:Issue 1(2015) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Unravelling the disease mechanism for TSPYL1 deficiency. (19th October 2020) Authors: Buyse, Gunnar; Di Michele, Michela; Wijgaerts, Anouck; Louwette, Sophie; Wittevrongel, Christine; Thys, Chantal; Downes, Kate; Ceulemans, Berten; Van Esch, Hild; Van Geet, Chris; Freson, Kathleen Journal: Human molecular genetics Issue: Volume 29:Number 20(2020) Page Start: 3431 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗