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European Journal of Human Genetics : EJHG|March 2, 2012
SNP array-based copy number and genotype analyses for preimplantation genetic diagnosis of human unbalanced translocationsChris M J van Uum, Servi J C Stevens, Joseph C F M Dreesen, et al.
Human Reproduction (Oxford, England)|September 23, 2022
Embryo tracking system for high-throughput sequencing-based preimplantation genetic testingWanwisa van Dijk, Kasper Derks, Marion Drüsedau, et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research|March 16, 2013
Epstein-Barr virus DNA load in nasopharyngeal brushings and whole blood in nasopharyngeal carcinoma patients before and after treatmentMarlinda Adham, Astrid E Greijer, Sandra A W M Verkuijlen, 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 Medical Genetics. Part A|October 13, 2011
MYT1L is a candidate gene for intellectual disability in patients with 2p25.3 (2pter) deletionsServi J C Stevens, Conny M A van Ravenswaaij-Arts, Jannie W H Janssen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 10, 2014
Genome-wide karyomapping accurately identifies the inheritance of single-gene defects in human preimplantation embryos in vitroSenthilkumar A Natesan, Alex J Bladon, Serdar Coskun, et al.
Annals of Neurology|July 18, 2018
Haploinsufficiency of CUX1 Causes Nonsyndromic Global Developmental Delay With Possible Catch-up DevelopmentKonrad Platzer, Benjamin Cogné, Jennifer Hague, et al.
Clinical Genetics|October 21, 2021
The broader phenotypic spectrum of congenital caudal abnormalities associated with mutations in the caudal type homeobox 2 geneServi J C Stevens, Constance T R M Stumpel, Karin E M Diderich, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 3, 2017
Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disordersRolph Pfundt, Marisol Del Rosario, Lisenka E L M Vissers, et al.
Nature Communications|October 21, 2017
Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disabilityM R F Reijnders, M Kousi, G M van Woerden, et al.
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