Erik A. Sistermans

Amsterdam, NH, Netherlands

Last Updated: 09/26/2026

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Found 97 publications

Exome analysis of 22,319 individuals links extremely rare copy-number variants and 22q11.21 dosage to Alzheimer risk.

Exome analysis of 22,319 individuals links extremely rare copy-number variants and 22q11.21 dosage to Alzheimer risk.

Journal: American journal of human genetics
Published: April 20, 2026

Toward point-of-care and amplification-free detection of human cytomegalovirus using CRISPR-Cas12a.

Toward point-of-care and amplification-free detection of human cytomegalovirus using CRISPR-Cas12a.

Journal: iScience
Published: December 01, 2025

Multiplexable, High-Throughput DNA-Based Technologies in Screening and Confirmatory Testing of Newborn Conditions: A Scoping Review.

Multiplexable, High-Throughput DNA-Based Technologies in Screening and Confirmatory Testing of Newborn Conditions: A Scoping Review.

Journal: International journal of neonatal screening
Published: September 03, 2025

Noninvasive Prenatal Testing: Mosaic Ratio Score as a Predictor for Confined Placental Mosaicism.

Noninvasive Prenatal Testing: Mosaic Ratio Score as a Predictor for Confined Placental Mosaicism.

Journal: Clinical chemistry
Published: July 16, 2025

Domain mapping of disease mutations reveals pathogenic SORL1 variants in Alzheimer's disease.

Domain mapping of disease mutations reveals pathogenic SORL1 variants in Alzheimer's disease.

Journal: Molecular neurodegeneration
Published: February 20, 2025

Protocol for high-precision CRISPR-Cas12a-based SNV detection on synthetic DNA, cell line cfDNA models, and liquid biopsies.

Protocol for high-precision CRISPR-Cas12a-based SNV detection on synthetic DNA, cell line cfDNA models, and liquid biopsies.

Journal: STAR protocols
Published: January 21, 2025

Recent advances in CRISPR-based single-nucleotide fidelity diagnostics.

Recent advances in CRISPR-based single-nucleotide fidelity diagnostics.

Journal: Communications medicine
Published: December 18, 2024

Genetic modifiers and ascertainment drive variable expressivity of complex disorders.

Genetic modifiers and ascertainment drive variable expressivity of complex disorders.

Journal: medRxiv : the preprint server for health sciences
Published: September 10, 2024

Detection of human cytomegalovirus cell-free DNA in pregnant women with symptomatically infected fetuses: proof-of-concept study.

Detection of human cytomegalovirus cell-free DNA in pregnant women with symptomatically infected fetuses: proof-of-concept study.

Journal: Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology
Published: September 06, 2024

Genetic modifiers and ascertainment drive variable expressivity of complex disorders.

Genetic modifiers and ascertainment drive variable expressivity of complex disorders.

Journal: Cell
Published: August 19, 2024

Synthetic mismatches enable specific CRISPR-Cas12a-based detection of genome-wide SNVs tracked by ARTEMIS.

Synthetic mismatches enable specific CRISPR-Cas12a-based detection of genome-wide SNVs tracked by ARTEMIS.

Journal: Cell reports methods
Published: June 07, 2024

Implementing non-invasive prenatal testing in a national screening program: Lessons learned from the TRIDENT studies.

Implementing non-invasive prenatal testing in a national screening program: Lessons learned from the TRIDENT studies.

Journal: Best practice & research. Clinical obstetrics & gynaecology
Published: June 07, 2024
Showing 1-12 of 97

Last Updated: 09/26/2026