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European Journal of Human Genetics : EJHG|January 17, 2013
Prenatal diagnostic testing of the Noonan syndrome genes in fetuses with abnormal ultrasound findingsEllen A Croonen, Willy M Nillesen, Kyra E Stuurman, et al.
Journal of Medical Genetics|October 18, 2011
Chromosome 1p21.3 microdeletions comprising DPYD and MIR137 are associated with intellectual disabilityMarjolein H Willemsen, Astrid Vallès, Laurens A M H Kirkels, et al.
European Journal of Human Genetics : EJHG|June 19, 2014
Heterozygous germline mutations in A2ML1 are associated with a disorder clinically related to Noonan syndromeLisenka E L M Vissers, Monica Bonetti, Jeroen Paardekooper Overman, et al.
American Journal of Human Genetics|July 13, 2010
Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotypeSimone Martinelli, Alessandro De Luca, Emilia Stellacci, et al.
European Journal of Human Genetics : EJHG|November 6, 2008
Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathyDorien Lugtenberg, Tjitske Kleefstra, Astrid R Oudakker, et al.
American Journal of Human Genetics|September 22, 2005
Diagnostic genome profiling in mental retardationBert B A de Vries, Rolph Pfundt, Martijn Leisink, et al.
American Journal of Human Genetics|June 26, 2012
Disruption of an EHMT1-associated chromatin-modification module causes intellectual disabilityTjitske Kleefstra, Jamie M Kramer, Kornelia Neveling, et al.
Journal of Medical Genetics|May 7, 2013
GATAD2B loss-of-function mutations cause a recognisable syndrome with intellectual disability and are associated with learning deficits and synaptic undergrowth in DrosophilaMarjolein H Willemsen, Bonnie Nijhof, Michaela Fenckova, et al.
Nature Genetics|May 1, 2012
Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndromeDavid A Koolen, Jamie M Kramer, Kornelia Neveling, et al.
Nature Genetics|July 12, 2016
Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrityJosefine S Witteveen, Marjolein H Willemsen, Thaís C D Dombroski, et al.
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