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American Journal of Human Genetics|February 24, 2015
Homozygous SLC6A17 mutations cause autosomal-recessive intellectual disability with progressive tremor, speech impairment, and behavioral problemsZafar Iqbal, Marjolein H Willemsen, Marie-Amélie Papon, et al.
Nature Medicine|June 20, 2024
Target engagement and immunogenicity of an active immunotherapeutic targeting pathological α-synuclein: a phase 1 placebo-controlled trialPepijn Eijsvogel, Pinaki Misra, Luis Concha-Marambio, et al.
Clinical and Translational Allergy|May 17, 2017
Application of the adverse outcome pathway (AOP) concept to structure the available in vivo and in vitro mechanistic data for allergic sensitization to food proteinsJolanda H M van Bilsen, Edyta Sienkiewicz-Szłapka, Daniel Lozano-Ojalvo, et al.
Physics and Imaging in Radiation Oncology|November 24, 2025
Towards clinical implementation of T2-weighted cine imaging for intrafraction drift correction workflows on the 1.5 Tesla magnetic resonance-linear acceleratorLieke T C Meijers, Johannes C J de Boer, Jochem R M van de Voort van Zyp, et al.
Genome Research|March 20, 2025
Optical genome mapping enables accurate testing of large repeat expansionsBart van der Sanden, Kornelia Neveling, Syukri Shukor, et al.
Nature Genetics|August 10, 2004
Mutations in a new member of the chromodomain gene family cause CHARGE syndromeLisenka E L M Vissers, Conny M A van Ravenswaaij, Ronald Admiraal, et al.
Clinical Genetics|February 22, 2024
Refining the 9q34.3 microduplication syndrome reveals mild neurodevelopmental features associated with a distinct global DNA methylation profileDmitrijs Rots, Kathleen Rooney, Raissa Relator, 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.
American Journal of Human Genetics|September 22, 2005
Diagnostic genome profiling in mental retardationBert B A de Vries, Rolph Pfundt, Martijn Leisink, et al.
Nature Medicine|May 14, 2024
Prevalence of comorbidities in individuals with neurodevelopmental disorders from the aggregated phenomics data of 51,227 pediatric individualsAlexander J M Dingemans, Sandra Jansen, Jeroen van Reeuwijk, et al.
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