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Full Text	Issue Date	Title	Author(s)
	2012	Phelan-McDermid syndrome in two adult brothers: atypical bipolar disorder as its psychopathological phenotype?	Verhoeven, W.M.A.; Egger, J.I.M.; Willemsen, M.H.; Leijer, G.J.M. de; Kleefstra, T.
	2011	Further molecular and clinical delineation of the Wisconsin syndrome phenotype associated with interstitial 3q24q25 deletions	Willemsen, M.H.; Leeuw, N. de; Mercer, C.; Eisenhauer, H.; Morris, J.; Collinson, M.N.; Barber, J.C.; Lam, S.T.; Lo, I.F.; Rensen, H.; Ferwerda, A.; Hamel, B.C.J.; Kleefstra, T.
	2011	Motor problems in Prader-Willi syndrome: a systematic review on body composition and neuromuscular functioning	Reus, L.; Zwarts, M.J.; Vlimmeren, L.A. van; Willemsen, M.H.; Otten, B.J.; Nijhuis-Van der Sanden, M.W.G.
	2011	Mutation screening of ASMT, the last enzyme of the melatonin pathway, in a large sample of patients with intellectual disability	Pagan, C.; Botros, H.G.; Poirier, K.; Dumaine, A.; Jamain, S.; Moreno, S.; Brouwer, A.P.M. de; Esch, H. van; Delorme, R.; Launay, J.M.; Tzschach, A.; Kalscheuer, V.M.M.; Lacombe, D.; Briault, S.; Laumonnier, F.; Raynaud, M.; Bon, B.W. van; Willemsen, M.H.; Leboyer, M.; Chelly, J.; Bourgeron, T.
	2011	Chromosome 1p21.3 microdeletions comprising DPYD and MIR137 are associated with intellectual disability	Willemsen, M.H.; Valles, A.; Kirkels, L.A.; Mastebroek, M.; Olde Loohuis, N.; Kos, A.; Wissink-Lindhout, W.M.; Brouwer, A.P.M. de; Nillesen, W.M.; Pfundt, R.; Holder-Espinasse, M.; Vallee, L.; Andrieux, J.; Coppens-Hofman, M.C.; Rensen, H.; Hamel, B.C.J.; Bokhoven, H. van; Aschrafi, A.; Kleefstra, T.
	2011	Familial Kleefstra syndrome due to maternal somatic mosaicism for interstitial 9q34.3 microdeletions	Willemsen, M.H.; Beunders, G.; Callaghan, M.; Leeuw, N. de; Nillesen, W.M.; Yntema, H.G.; Hagen, J.M. van; Nieuwint, A.W.; Morrison, N.; Keijzers-Vloet, S.T.M.; Hoischen, A.; Brunner, H.G.; Tolmie, J.; Kleefstra, T.
	2011	Autosomal recessive mental retardation, deafness, ankylosis, and mild hypophosphatemia associated with a novel ANKH mutation in a consanguineous family	Morava, E.; Kuhnisch, J.; Drijvers, J.M.; Robben, J.H.; Cremers, C.W.R.J.; Setten, P. van; Branten, A.J.W.; Stumpp, S.; Jong, A. de; Voesenek, K.E.J.; Vermeer, S.; Heister, A.; Claahsen-van der Grinten, H.L.; O'Neill, C.W.; Willemsen, M.H.; Lefeber, D.J.; Deen, P.M.T.; Kornak, U.; Kremer, J.M.J.; Wevers, R.A.
	2010	A de novo p.Asp18Asn mutation in TREX1 in a patient with Aicardi-Goutieres syndrome.	Haaxma, C.A.; Crow, Y.J.; Steensel, M.A.M. van; Lammens, M.M.Y.; Rice, G.I.; Verbeek, M.M.; Willemsen, M.H.
	2010	In vivo proton MR spectroscopy findings specific for adenylosuccinate lyase deficiency.	Henneke, M.; Dreha-Kulaczewski, S.; Brockmann, K.; Graaf, M. van der; Willemsen, M.H.; Engelke, U.F.H.; Dechent, P.; Heerschap, A.; Helms, G.; Wevers, R.A.; Gartner, J.
	2010	Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome.	Willemsen, M.H.; Fernandez, B.A.; Bacino, C.A.; Gerkes, E.; Brouwer, A.P.M. de; Pfundt, R.; Sikkema-Raddatz, B.; Scherer, S.W.; Marshall, C.R.; Potocki, L.; Bokhoven, J.H.L.M. van; Kleefstra, T.
	2010	3-Methylglutaconic aciduria type I redefined: a syndrome with late-onset leukoencephalopathy.	Wortmann, S.B.; Kremer, H.P.H.; Graham, A.; Willemsen, M.H.; Loupatty, F.J.; Hogg, S.L.; Engelke, U.F.H.; Kluijtmans, L.A.J.; Wanders, R.J.; Illsinger, S.; Wilcken, B.; Cruysberg, J.R.M.; Das, A.M.; Morava, E.; Wevers, R.A.
	2010	Urinary dopamine in aromatic L-amino acid decarboxylase deficiency: the unsolved paradox.	Wassenberg, T.; Willemsen, M.H.; Geurtz, P.B.; Lammens, M.M.Y.; Verrijp, K.; Wilmer, M.J.G.; Lee, W.T.; Wevers, R.A.; Verbeek, M.M.
	2009	Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype.	Kleefstra, T.; Zelst-Stams, W.A. van; Nillesen, W.M.; Cormier-Daire, V.; Houge, G.; Foulds, N.; Dooren, M. van; Willemsen, M.H.; Pfundt, R.P.; Turner, A.; Wilson, M.; McGaughran, J.; Rauch, A.; Zenker, M.; Adam, M.P.; Innes, M.; Davies, C.; Lopez, A.G.; Casalone, R.; Weber, A.; Brueton, L.; Navarro, A.D.; Bralo, M.P.; Venselaar, H.; Stegmann, S.P.; Yntema, H.G.; Bokhoven, J.H.L.M. van; Brunner, H.G.

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