1. De novo loss‐of‐function mutations in X‐linked SMC1A cause severe ID and therapy‐resistant epilepsy in females: expanding the phenotypic spectrum. Issue 5 (14th February 2016) Authors: Jansen, S.; Kleefstra, T.; Willemsen, M.H.; de Vries, P.; Pfundt, R.; Hehir‐Kwa, J.Y.; Gilissen, C.; Veltman, J.A.; de Vries, B.B.A.; Vissers, L.E.L.M. Journal: Clinical genetics Issue: Volume 90:Issue 5(2016) Page Start: 413 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. De novo variants in CDK13 associated with syndromic ID/DD: Molecular and clinical delineation of 15 individuals and a further review. Issue 5 (14th April 2018) Authors: van den Akker, W.M.R.; Brummelman, I.; Martis, L.M.; Timmermans, R.N.; Pfundt, R.; Kleefstra, T.; Willemsen, M.H.; Gerkes, E.H.; Herkert, J.C.; van Essen, A.J.; Rump, P.; Vansenne, F.; Terhal, P.A.; van Haelst, M.M.; Cristian, I.; Turner, C.E.; Cho, M.T.; Begtrup, A.; Willaert, R.; Fassi, E. Journal: Clinical genetics Issue: Volume 93:Issue 5(2018) Page Start: 1000 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. De novo variants in KLF7 are a potential novel cause of developmental delay/intellectual disability, neuromuscular and psychiatric symptoms. Issue 5 (25th January 2018) Authors: Powis, Z.; Petrik, I.; Cohen, J.S.; Escolar, D.; Burton, J.; van Ravenswaaij‐Arts, C.M.A.; Sival, D.A.; Stegmann, A.P.A.; Kleefstra, T.; Pfundt, R.; Chikarmane, R.; Begtrup, A.; Huether, R.; Tang, S.; Shinde, D.N. Journal: Clinical genetics Issue: Volume 93:Issue 5(2018) Page Start: 1030 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Evaluating a counselling strategy for diagnostic WES in paediatric neurology: an exploration of parents' information and communication needs. Issue 2 (21st May 2015) Authors: Krabbenborg, L.; Schieving, J.; Kleefstra, T.; Vissers, L.E.L.M.; Willemsen, M.A.; Veltman, J.A.; van der Burg, S. Journal: Clinical genetics Issue: Volume 89:Issue 2(2016) Page Start: 244 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Exploring the cognitive phenotype of Kabuki (Niikawa–Kuroki) syndrome. Issue 6 (6th February 2019) Authors: van Dongen, L. C. M.; Wingbermühle, P. A. M.; van der Veld, W. M.; Stumpel, C.; Kleefstra, T.; Egger, J. I. M. Journal: Journal of intellectual disability research Issue: Volume 63:Issue 6(2019) Page Start: 498 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Making headway with genetic diagnostics of intellectual disabilities. (26th August 2013) Authors: Willemsen, M.H.; Kleefstra, T. Journal: Clinical genetics Issue: Volume 85:Number 2(2014:Feb.) Page Start: 101 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Neuropsychological phenotype and psychopathology in seven adult patients with Phelan‐McDermid syndrome: implications for treatment strategy. (17th February 2016) Authors: Egger, J. I. M.; Zwanenburg, R. J.; van Ravenswaaij‐Arts, C. M. A.; Kleefstra, T.; Verhoeven, W. M. A. Journal: Genes, brain, and behavior Issue: Volume 15:Number 4(2016) Page Start: 395 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Novel BCOR mutations in patients with oculofaciocardiodental (OFCD) syndrome. (5th April 2013) Authors: Feberwee, H.E.; Feenstra, I.; Oberoi, S.; Sama, I.E.; Ockeloen, C.W.; Clum, F.; Slavotinek, A.; Kuijpers, M.A.R.; Dooijes, D.; Kuijpers‐Jagtman, A.M.; Kleefstra, T.; Carels, C.E.L. Journal: Clinical genetics Issue: Volume 85:Number 2(2014:Feb.) Page Start: 194 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Okur‐Chung neurodevelopmental syndrome: Eight additional cases with implications on phenotype and genotype expansion. Issue 4 (13th February 2018) Authors: Chiu, A.T.G.; Pei, S.L.C.; Mak, C.C.Y.; Leung, G.K.C.; Yu, M.H.C.; Lee, S.L.; Vreeburg, M.; Pfundt, R.; van der Burgt, I.; Kleefstra, T.; Frederic, T.M.‐T.; Nambot, S.; Faivre, L.; Bruel, A.‐L.; Rossi, M.; Isidor, B.; Küry, S.; Cogne, B.; Besnard, T.; Willems, M. Journal: Clinical genetics Issue: Volume 93:Issue 4(2018) Page Start: 880 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. The MECP2 variant c.925C>T (p.Arg309Trp) causes intellectual disability in both males and females without classic features of Rett syndrome. Issue 6 (8th April 2016) Authors: Schönewolf‐Greulich, B.; Tejada, M.‐I.; Stephens, K.; Hadzsiev, K.; Gauthier, J.; Brøndum‐Nielsen, K.; Pfundt, R.; Ravn, K.; Maortua, H.; Gener, B.; Martínez‐Bouzas, C.; Piton, A.; Rouleau, G.; Clayton‐Smith, J.; Kleefstra, T.; Bisgaard, A.‐M.; Tümer, Z. Journal: Clinical genetics Issue: Volume 89:Issue 6(2016) Page Start: 733 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗