Phenotypic characterization of an older adult male with late-onset epilepsy and a novel mutation in ASXL3 shows overlap with the associated Bainbridge-Ropers syndrome

by Verhoeven W, Egger J, Räkers E, van Erkelens A, Pfundt R, Willemsen MH
Published 2018-03-01

A de novo CTNNB1 Novel Splice Variant in an Adult Female with Severe Intellectual Disability

by Verhoeven WMA, Egger JIM, Jongbloed RE, Meijer van Putten M, de Bruin-van Zandwijk M, Zwemer AS, Pfundt R, Willemsen MH
Published 2020-10-01

Copy number variants in a sample of patients with psychotic disorders: is standard screening relevant for actual clinical practice?

by Van de Kerkhof NW, Feenstra I, van der Heijden FM,  De Leeuw N, Pfundt R, Stöber G, Egger JI, Verhoeven WM
Published 2012-07-01