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Journal of Medical Genetics|September 13, 2005
CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 geneM C J Jongmans, R J Admiraal, K P van der Donk, et al.
The New England Journal of Medicine|October 5, 2012
Diagnostic exome sequencing in persons with severe intellectual disabilityJoep de Ligt, Marjolein H Willemsen, Bregje W M van Bon, et al.
Redox Biology|October 9, 2023
Changes to insulin sensitivity in glucose clearance systems and redox following dietary supplementation with a novel cysteine-rich protein: A pilot randomized controlled trial in humans with type-2 diabetesW M Peeters, M Gram, G J Dias, 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.
Plos One|September 9, 2011
Effect of heating and glycation on the allergenicity of 2S albumins (Ara h 2/6) from peanutYvonne M Vissers, Fany Blanc, Per Stahl Skov, 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.
Nature Genetics|August 15, 2006
A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphismDavid A Koolen, Lisenka E L M Vissers, Rolph Pfundt, et al.
Plos Genetics|September 21, 2011
Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and miceLisenka E L M Vissers, Timothy C Cox, A Murat Maga, et al.
Molecular Nutrition & Food Research|November 17, 2011
Boiling peanut Ara h 1 results in the formation of aggregates with reduced allergenicityFany Blanc, Yvonne M Vissers, Karine Adel-Patient, et al.
Human Molecular Genetics|January 2, 2016
TRIO loss of function is associated with mild intellectual disability and affects dendritic branching and synapse functionWei Ba, Yan Yan, Margot R F Reijnders, et al.
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