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Monique M. van Veghel–Plandsoen

Observed names: M. Van Veghel-Plandsoen, M.M. van Veghel-Plandsoen, Monique M van Veghel-Plandsoen, Monique M. van Veghel-Plandsoen, Monique Van Veghel – Plandsoen, Monique Van Veghel-Plandsoen, Monique van Veghel-Plandsoen, Monique van Veghel‐Plandsoen
Institution: Erasmus MC
OpenAlex ID: A5032642395
Low-penetrance susceptibility to breast cancer due to CHEK2*1100delC in noncarriers of BRCA1 or BRCA2 mutations
2002 · Hanne Meijers-Heijboer, Ans van den Ouweland, et al. · Nature Genetics · 1,106
Targeted Next Generation Sequencing reveals previously unidentified TSC1 and TSC2 mutations
2015 · Mark Nellist, Rutger WW Brouwer, et al. · BMC Medical Genetics · 86
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Large regional differences in the frequency of distinct BRCA1/BRCA2 mutations in 517 Dutch breast and/or ovarian cancer families
2001 · L.C. Verhoog, A.M.W. van den Ouweland, et al. · European Journal of Cancer · 76
Web-accessible application for identifying pathogenic transcripts with RNA-seq: Increased sensitivity in diagnosis of neurodevelopmental disorders
2023 · Jordy Dekker, Rachel Schot, et al. · The American Journal of Human Genetics · 56
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Multiplex ligation-depending probe amplification is not suitable for detection of low-grade mosaicism
2011 · Monique M van Veghel-Plandsoen, Cokkie H Wouters, et al. · European Journal of Human Genetics · 35
Identification of a large rearrangement in CYLD as a cause of familial cylindromatosis
2010 · Ans M. W. van den Ouweland, Peter Elfferich, et al. · Familial Cancer · 30
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Deletion of Exons 1a-2 of BRCA1 : A Rather Frequent Pathogenic Abnormality
2009 · Ans M.W. van den Ouweland, Winand N.M. Dinjens, et al. · Genetic Testing and Molecular Biomarkers · 21
High‐yield identification of pathogenic NF1 variants by skin fibroblast transcriptome screening after apparently normal diagnostic DNA testing
2022 · Hannie C. W. Douben, Mark Nellist, et al. · Human Mutation · 19
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Evaluation of Circulating Tumor DNA as a Liquid Biomarker in Uveal Melanoma
2024 · Daniel P. de Bruyn, Natasha M. van Poppelen, et al. · Investigative Ophthalmology & Visual Science · 18
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Large Deletion at the TSC1 Locus in a Family with Tuberous Sclerosis Complex
2005 · M. Nellist, O. Sancak, et al. · Genetic Testing · 12
Nanopore long-read sequencing for the critically ill facilitates ultrarapid diagnostics and urgent clinical decision making
2025 · Daphne J. Smits, Federico Ferraro, et al. · European Journal of Human Genetics · 9
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An 8q24 Gain in Pancreatic Juice Is a Candidate Biomarker for the Detection of Pancreatic Cancer
2023 · Iris J. M. Levink, Malgorzata I. Srebniak, et al. · International Journal of Molecular Sciences · 8
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Liquid Biopsies for Colorectal Cancer and Advanced Adenoma Screening and Surveillance: What to Measure?
2023 · Ellis L. Eikenboom, Saskia M. Wilting, et al. · Cancers · 6
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RNA-sequencing improves diagnosis for neurodevelopmental disorders by identifying pathogenic non-coding variants and reinterpretation of coding variants
2022 · Jordy Dekker, Rachel Schot, et al. · medRxiv · 3
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A clinical and genotype-phenotype analysis of MACF1 variants
2025 · Jordy Dekker, Rachel Schot, et al. · The American Journal of Human Genetics · 1
What proportion of couples with a history of recurrent pregnancy loss and with a balanced rearrangement in one parent can potentially be identified through cell-free DNA genotyping?
2023 · Laura J. C. M. van Zutven, Jona Mijalkovic, et al. · Molecular Cytogenetics · 1
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Works count: 16
Citation count: 1,487
H-index: 10
I10-index: 10
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