Mark R. Drost
Rotterdam, ZH, Netherlands
Last Updated: 09/26/2026
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Found 26 publications
Impact of Maternal Body Mass Index (BMI) on the Performance of Non-Invasive Prenatal Testing (NIPT).
Impact of Maternal Body Mass Index (BMI) on the Performance of Non-Invasive Prenatal Testing (NIPT).
Journal: Prenatal diagnosis
Published: November 24, 2025
Nanopore long-read sequencing for the critically ill facilitates ultrarapid diagnostics and urgent clinical decision making.
Journal: European journal of human genetics : EJHG
Published: March 24, 2025
Routine RNA-based analysis of potential splicing variants facilitates genomic diagnostics and reveals limitations of in silico prediction tools.
Journal: HGG advances
Published: February 27, 2025
Clinical utility of DNA-methylation signatures in routine diagnostics for neurodevelopmental disorders.
Journal: European journal of human genetics : EJHG
Published: February 13, 2025
Chorionic Villus Sampling for Rapid Confirmation of High-Risk NIPT Results for Trisomy 21, 18, and 13.
Journal: Prenatal diagnosis
Published: July 13, 2024
The High Diagnostic Yield of Prenatal Exome Sequencing Followed by 3400 Gene Panel Analysis in 629 Ongoing Pregnancies With Ultrasound Anomalies.
Journal: Prenatal diagnosis
Published: July 10, 2024
Predictive functional assay-based classification of PMS2 variants in Lynch syndrome.
Journal: Human mutation
Published: November 09, 2021
Induction of mismatch repair deficiency, compromised DNA damage signaling and compound hypermutagenesis by a dietary mutagen in a cell-based model for Lynch syndrome.
Journal: Carcinogenesis
Published: July 05, 2021
Digenic inheritance of MSH6 and MUTYH variants in familial colorectal cancer.
Journal: Genes, chromosomes & cancer
Published: March 04, 2020
Contribution of mRNA Splicing to Mismatch Repair Gene Sequence Variant Interpretation.
Journal: Frontiers in genetics
Published: February 20, 2020
Last Updated: 09/26/2026