Marjan M. Weiss

Nijmegen, GE, Netherlands

Last Updated: 09/26/2026

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Found 64 publications

Clinical Long-Read Genome Sequencing for Rare-Disease Diagnostics.

Clinical Long-Read Genome Sequencing for Rare-Disease Diagnostics.

Journal: The New England journal of medicine

Published: June 15, 2026

Soluble SORL1 in cerebrospinal fluid as a marker for functional impact of rare SORL1 variants.

Soluble SORL1 in cerebrospinal fluid as a marker for functional impact of rare SORL1 variants.

Journal: Alzheimer's & dementia : the journal of the Alzheimer's Association

Published: September 12, 2025

Clinical utility of liquid biopsy next-generation sequencing for advanced non-small cell lung cancer in the Netherlands.

Clinical utility of liquid biopsy next-generation sequencing for advanced non-small cell lung cancer in the Netherlands.

Journal: Scientific reports

Published: January 20, 2025

Bleeding symptoms in persons with rare bleeding disorders and a heterozygous genotype: data from the Rare Bleeding Disorders in the Netherlands study.

Bleeding symptoms in persons with rare bleeding disorders and a heterozygous genotype: data from the Rare Bleeding Disorders in the Netherlands study.

Journal: Journal of thrombosis and haemostasis : JTH

Published: September 24, 2024

HiFi long-read genomes for difficult-to-detect, clinically relevant variants.

HiFi long-read genomes for difficult-to-detect, clinically relevant variants.

Journal: American journal of human genetics

Published: August 31, 2024

Clinical exome sequencing data from patients with inborn errors of immunity: Cohort level diagnostic yield and the benefit of systematic reanalysis.

Clinical exome sequencing data from patients with inborn errors of immunity: Cohort level diagnostic yield and the benefit of systematic reanalysis.

Journal: Clinical immunology (Orlando, Fla.)

Published: June 11, 2024

Unravelling undiagnosed rare disease cases by HiFi long-read genome sequencing.

Unravelling undiagnosed rare disease cases by HiFi long-read genome sequencing.

Journal: medRxiv : the preprint server for health sciences

Published: May 15, 2024

Unraveling undiagnosed rare disease cases by HiFi long-read genome sequencing.

Unraveling undiagnosed rare disease cases by HiFi long-read genome sequencing.

Journal: Genome research

Published: March 28, 2024

Targeted exome analysis in patients with rare bleeding disorders: data from the Rare Bleeding Disorders in the Netherlands study.

Targeted exome analysis in patients with rare bleeding disorders: data from the Rare Bleeding Disorders in the Netherlands study.

Journal: Research and practice in thrombosis and haemostasis

Published: January 19, 2024

Fetal fraction of cell-free DNA in noninvasive prenatal testing and adverse pregnancy outcomes: a nationwide retrospective cohort study of 56,110 pregnant women.

Fetal fraction of cell-free DNA in noninvasive prenatal testing and adverse pregnancy outcomes: a nationwide retrospective cohort study of 56,110 pregnant women.

Journal: American journal of obstetrics and gynecology

Published: October 03, 2023

Genome sequencing as a generic diagnostic strategy for rare disease.

Genome sequencing as a generic diagnostic strategy for rare disease.

Journal: Genome medicine

Published: September 21, 2023

Early On-treatment Circulating Tumor DNA Measurements and Response to Immune Checkpoint Inhibitors in Advanced Urothelial Cancer.

Early On-treatment Circulating Tumor DNA Measurements and Response to Immune Checkpoint Inhibitors in Advanced Urothelial Cancer.

Journal: European urology oncology

Published: April 13, 2023

Showing 1-12 of 64

Last Updated: 09/26/2026