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Human Mutation|December 17, 2008
Genomic microarrays in mental retardation: a practical workflow for diagnostic applicationsDavid A Koolen, Rolph Pfundt, Nicole de Leeuw, et al.
Molecular Vision|March 28, 2015
Analysis of rare variants in the CFH gene in patients with the cuticular drusen subtype of age-related macular degenerationMaheswara R Duvvari, Nicole T M Saksens, Johannes P H van de Ven, et al.
Indian Journal of Human Genetics|September 11, 2013
Subtelomeric chromosomal rearrangements in a large cohort of unexplained intellectually disabled individuals in Indonesia: A clinical and molecular studyFarmaditya E P Mundhofir, Willy M Nillesen, Bregje W M Van Bon, et al.
Human Mutation|May 4, 2011
Characterization of a novel transcript of the EHMT1 gene reveals important diagnostic implications for Kleefstra syndromeWilly M Nillesen, Helger G Yntema, Marco Moscarda, et al.
Genes, Chromosomes & Cancer|May 13, 2010
Noonan syndrome, the SOS1 gene and embryonal rhabdomyosarcomaMarjolijn C J Jongmans, Peter M Hoogerbrugge, Linda Hilkens, et al.
Genome Medicine|December 15, 2016
Truncating de novo mutations in the Krüppel-type zinc-finger gene ZNF148 in patients with corpus callosum defects, developmental delay, short stature, and dysmorphismsServi J C Stevens, Anthonie J van Essen, Conny M A van Ravenswaaij, et al.
American Journal of Human Genetics|July 11, 2006
Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndromeTjitske Kleefstra, Han G Brunner, Jeanne Amiel, et al.
European Journal of Human Genetics : EJHG|November 11, 2010
Mitochondrial dysfunction and organic aciduria in five patients carrying mutations in the Ras-MAPK pathwayTjitske Kleefstra, Saskia B Wortmann, Richard J T Rodenburg, et al.
European Journal of Human Genetics : EJHG|February 2, 2012
Two families with sibling recurrence of the 17q21.31 microdeletion syndrome due to low-grade mosaicismDavid A Koolen, Juliette Dupont, Nicole de Leeuw, et al.
European Journal of Human Genetics : EJHG|March 17, 2011
Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutationMarjolijn C J Jongmans, Ineke van der Burgt, Peter M Hoogerbrugge, et al.
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