M. V. van Veghel-Plandsoen

发表

Low-penetrance susceptibility to breast cancer due to CHEK2*1100delC in noncarriers of BRCA1 or BRCA2 mutations

Nazneen Rahman, Carel Meijers, Julian Peto, 2002, Nature Genetics.

Large regional differences in the frequency of distinct BRCA1/BRCA2 mutations in 517 Dutch breast and/or ovarian cancer families.

J. Klijn, E. Berns, P. Devilee, 2001, European journal of cancer.

High‐yield identification of pathogenic NF1 variants by skin fibroblast transcriptome screening after apparently normal diagnostic DNA testing

L. Hoefsloot, E. Korpershoek, J. Saris, 2022, Human mutation.

Deletion of exons 1a-2 of BRCA1: a rather frequent pathogenic abnormality.

P. Nederlof, A. V. D. van den Ouweland, W. Dinjens, 2009, Genetic testing and molecular biomarkers.

Web-accessible application for identifying pathogenic transcripts with RNA-seq: Increased sensitivity in diagnosis of neurodevelopmental disorders.

L. Hoefsloot, G. Geeven, G. Mancini, 2023, American journal of human genetics.

RNA-sequencing improves diagnosis for neurodevelopmental disorders by identifying pathogenic non-coding variants and reinterpretation of coding variants

L. Hoefsloot, G. Geeven, G. Mancini, 2022, medRxiv.

Targeted Next Generation Sequencing reveals previously unidentified TSC1 and TSC2 mutations

A. V. D. van den Ouweland, A. de Klein, F. Jansen, 2015, BMC Medical Genetics.

Identification of a large rearrangement in CYLD as a cause of familial cylindromatosis

A. V. D. van den Ouweland, S. Franken, R. Lamping, 2010, Familial Cancer.

Large deletion at the TSC1 locus in a family with tuberous sclerosis complex.

A. V. D. van den Ouweland, M. Goedbloed, D. Lindhout, 2005, Genetic testing.

An 8q24 Gain in Pancreatic Juice Is a Candidate Biomarker for the Detection of Pancreatic Cancer

A. Wagner, M. Bruno, G. Fuhler, 2023, International journal of molecular sciences.