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NPJ Genomic Medicine|November 9, 2022
Diagnostic analysis of the highly complex OPN1LW/OPN1MW gene cluster using long-read sequencing and MLPALonneke Haer-Wigman, Amber den Ouden, Maria M van Genderen, et al.
Human Genetics|June 22, 2010
CDK19 is disrupted in a female patient with bilateral congenital retinal folds, microcephaly and mild mental retardationArijit Mukhopadhyay, Jamie M Kramer, Gerard Merkx, et al.
American Journal of Human Genetics|August 19, 2007
Arts syndrome is caused by loss-of-function mutations in PRPS1Arjan P M de Brouwer, Kelly L Williams, John A Duley, et al.
Human Mutation|August 13, 2017
Validation and application of a novel integrated genetic screening method to a cohort of 1,112 men with idiopathic azoospermia or severe oligozoospermiaManon S Oud, Liliana Ramos, Moira K O'Bryan, et al.
American Journal of Human Genetics|December 31, 2005
ZNF674: a new kruppel-associated box-containing zinc-finger gene involved in nonsyndromic X-linked mental retardationDorien Lugtenberg, Helger G Yntema, Martijn J G Banning, et al.
HGG Advances|April 1, 2021
TMEM218 dysfunction causes ciliopathies, including Joubert and Meckel syndromesJulie C Van De Weghe, Jessica L Giordano, Inge B Mathijssen, 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.
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.
Investigative Ophthalmology & Visual Science|July 5, 2018
The Common ABCA4 Variant p.Asn1868Ile Shows Nonpenetrance and Variable Expression of Stargardt Disease When Present in trans With Severe VariantsEsmee H Runhart, Riccardo Sangermano, Stéphanie S Cornelis, et al.
European Journal of Human Genetics : EJHG|February 23, 2017
Diagnostic exome sequencing in 266 Dutch patients with visual impairmentLonneke Haer-Wigman, Wendy Ag van Zelst-Stams, Rolph Pfundt, et al.
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