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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.
Clinical Biochemistry|August 13, 2013
Reliable noninvasive prenatal testing by massively parallel sequencing of circulating cell-free DNA from maternal plasma processed up to 24h after venipunctureKaren Buysse, Lean Beulen, Ingrid Gomes, et al.
British Journal of Clinical Pharmacology|October 10, 2022
Viral clearance, pharmacokinetics and tolerability of ensovibep in patients with mild to moderate COVID-19: A phase 2a, open-label, single-dose escalation studyManon L M Prins, Johan L van der Plas, Maurits F J M Vissers, et al.
American Journal of Human Genetics|January 14, 2025
HiFi long-read genomes for difficult-to-detect, clinically relevant variantsWolfram Höps, Marjan M Weiss, Ronny Derks, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 24, 2017
A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurologyLisenka E L M Vissers, Kirsten J M van Nimwegen, Jolanda H Schieving, et al.
European Journal of Human Genetics : EJHG|July 16, 2015
Missense variants in AIMP1 gene are implicated in autosomal recessive intellectual disability without neurodegenerationZafar Iqbal, Lucia Püttmann, Luciana Musante, et al.
American Journal of Medical Genetics. Part A|January 13, 2021
Human disease genes website series: An international, open and dynamic library for up-to-date clinical informationAlexander J M Dingemans, Diante E Stremmelaar, Lisenka E L M Vissers, et al.
European Journal of Human Genetics : EJHG|September 27, 2024
Uncovering recessive alleles in rare Mendelian disorders by genome sequencing of 174 individuals with monoallelic pathogenic variantsGaby Schobers, Maartje Pennings, Juliette de Vries, et al.
American Journal of Human Genetics|November 20, 2012
Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndromeJanneke H M Schuurs-Hoeijmakers, Edwin C Oh, Lisenka E L M Vissers, et al.
American Journal of Medical Genetics. Part A|October 26, 2011
Whole-exome sequencing detects somatic mutations of IDH1 in metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria (MC-HGA)Lisenka E L M Vissers, Virginia Fano, Diego Martinelli, et al.
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