Marinus J. Blok

Maastricht, LI, Netherlands

Last Updated: 09/26/2026

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Found 49 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

Development of a rapid ex vivo tumor platform for drug response prediction in lung cancer.

Development of a rapid ex vivo tumor platform for drug response prediction in lung cancer.

Journal: NPJ precision oncology

Published: February 23, 2026

Evidence for pathogenicity of BRCA2 c.8351G>A p.(Arg2784Gln) and the challenges in classification of pathogenic variants with reduced penetrance.

Evidence for pathogenicity of BRCA2 c.8351G>A p.(Arg2784Gln) and the challenges in classification of pathogenic variants with reduced penetrance.

Journal: Journal of medical genetics

Published: August 21, 2025

Preimplantation genetic testing for neurofibromatosis type 1: molecular genetic aspects and impact on reproductive counseling.

Preimplantation genetic testing for neurofibromatosis type 1: molecular genetic aspects and impact on reproductive counseling.

Journal: Human reproduction (Oxford, England)

Published: July 16, 2025

Refined genotype-phenotype correlations in neurofibromatosis type 1 patients with NF1 point variants.

Refined genotype-phenotype correlations in neurofibromatosis type 1 patients with NF1 point variants.

Journal: Journal of medical genetics

Published: March 14, 2025

Cohort profile: a nationwide study in Dutch CHEK2 c.1100delC families using the infrastructure of the HEreditary Breast and Ovarian cancer study Netherlands - Hebon-CHEK2.

Cohort profile: a nationwide study in Dutch CHEK2 c.1100delC families using the infrastructure of the HEreditary Breast and Ovarian cancer study Netherlands - Hebon-CHEK2.

Journal: BMJ open

Published: October 09, 2024

Large-scale genome-wide association study of 398,238 women unveils seven novel loci associated with high-grade serous epithelial ovarian cancer risk.

Large-scale genome-wide association study of 398,238 women unveils seven novel loci associated with high-grade serous epithelial ovarian cancer risk.

Journal: medRxiv : the preprint server for health sciences

Published: March 18, 2024

Genome-wide association study of 398,238 women unveils seven loci associated with high-grade serous ovarian cancer.

Genome-wide association study of 398,238 women unveils seven loci associated with high-grade serous ovarian cancer.

Journal: NPJ genomic medicine

Published: March 14, 2024

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

FANCM missense variants and breast cancer risk: a case-control association study of 75,156 European women.

FANCM missense variants and breast cancer risk: a case-control association study of 75,156 European women.

Journal: European journal of human genetics : EJHG

Published: July 15, 2022

Molecular characterization of an embryonal rhabdomyosarcoma occurring in a patient with Kabuki syndrome: report and literature review in the light of tumor predisposition syndromes.

Molecular characterization of an embryonal rhabdomyosarcoma occurring in a patient with Kabuki syndrome: report and literature review in the light of tumor predisposition syndromes.

Journal: Familial cancer

Published: May 04, 2022

STS pathogenic variants in a Dutch patient cohort clinically suspected for X-linked ichthyosis show genetic heterogeneity.

STS pathogenic variants in a Dutch patient cohort clinically suspected for X-linked ichthyosis show genetic heterogeneity.

Journal: The British journal of dermatology

Published: March 04, 2022

Showing 1-12 of 49

Last Updated: 09/26/2026