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Laura J.C.M. van Zutven

Erasmus University Rotterdam

16

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1119

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The Diagnostic Journey of a Patient with Prader-Willi-Like Syndrome and a Unique Homozygous SNURF-SNRPN Variant; Bio-Molecular Analysis and Review of the Literature.

2021 Genes
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Does non-invasive prenatal testing affect the livebirth prevalence of Down syndrome in the Netherlands? A population-based register study

2021 Prenatal Diagnosis
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Social and medical need for whole genome high resolution NIPT

2019 Molecular Genetics & Genomic Medicine
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Multiple tumors due to mosaic genome‐wide paternal uniparental disomy

2019 Pediatric Blood & Cancer
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N-Acetylglutamate Synthase Deficiency Due to a Recurrent Sequence Variant in the N-acetylglutamate Synthase Enhancer Region.

2018 Scientific Reports
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Postzygotic telomere capture causes segmental UPD, duplication and deletion of chromosome 8p in a patient with intellectual disability and obesity

2017 European Journal of Medical Genetics
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Interstitial 6q21q23 duplication - variant of variable phenotype and incomplete penetrance or benign duplication?

2016 Molecular Cytogenetics
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Targeted sequencing by proximity ligation for comprehensive variant detection and local haplotyping.

2014 Nature Biotechnology
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Behavioural phenotype of a patient with a de novo 1.2 Mb chromosome 4q25 microdeletion

2013 European Journal of Medical Genetics
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A 600 kb triplication in the cat eye syndrome critical region causes anorectal, renal and preauricular anomalies in a three-generation family

2012 European Journal of Human Genetics
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Citations (15)