1. A detailed clinical analysis of 13 patients with AUTS2 syndrome further delineates the phenotypic spectrum and underscores the behavioural phenotype. Issue 8 (13th April 2016) Authors: Beunders, Gea; van de Kamp, Jiddeke; Vasudevan, Pradeep; Morton, Jenny; Smets, Katrien; Kleefstra, Tjitske; de Munnik, Sonja A; Schuurs-Hoeijmakers, Janneke; Ceulemans, Berten; Zollino, Marcella; Hoffjan, Sabine; Wieczorek, Stefan; So, Joyce; Mercer, Leanne; Walker, Tanya; Velsher, Lea; Parker, M... Journal: Journal of medical genetics Issue: Volume 53:Issue 8(2016) Page Start: 523 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism. Issue 10 (14th August 2014) Authors: Ansari, Morad; Poke, Gemma; Ferry, Quentin; Williamson, Kathleen; Aldridge, Roland; Meynert, Alison M; Bengani, Hemant; Chan, Cheng Yee; Kayserili, Hülya; Avci, Şahin; Hennekam, Raoul C M; Lampe, Anne K; Redeker, Egbert; Homfray, Tessa; Ross, Alison; Falkenberg Smeland, Marie; Mansour, Sahar; Par... Journal: Journal of medical genetics Issue: Volume 51:Issue 10(2014) Page Start: 659 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability. Issue 12 (23rd October 2014) Authors: Hunt, David; Leventer, Richard J; Simons, Cas; Taft, Ryan; Swoboda, Kathryn J; Gawne-Cain, Mary; Magee, Alex C; Turnpenny, Peter D; Baralle, Diana Journal: Journal of medical genetics Issue: Volume 51:Issue 12(2014) Page Start: 806 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗