Janneke M. Hoeijmakers-Schuurs

Nijmegen, GE, Netherlands

Last Updated: 09/26/2026

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Found 52 publications

Genome Sequencing of Undiagnosed European Patients Suspected of Hereditary Cancer: Diagnostic Yield and Identification of Candidate Causative Variants.

Genome Sequencing of Undiagnosed European Patients Suspected of Hereditary Cancer: Diagnostic Yield and Identification of Candidate Causative Variants.

Journal: JCO precision oncology

Published: April 16, 2026

Novel genotypes, phenotypes, and triggers in humans with OTULIN haploinsufficiency.

Novel genotypes, phenotypes, and triggers in humans with OTULIN haploinsufficiency.

Journal: Journal of human immunity

Published: November 26, 2025

DNA methylation signature and clinical delineation of PACS1-related disorder in 24 unreported individuals.

DNA methylation signature and clinical delineation of PACS1-related disorder in 24 unreported individuals.

Journal: European journal of human genetics : EJHG

Published: September 19, 2025

Optimising rare tumour risk syndromes care: clinical insights and the PREVENTABLE socioeconomic framework.

Optimising rare tumour risk syndromes care: clinical insights and the PREVENTABLE socioeconomic framework.

Journal: European journal of human genetics : EJHG

Published: June 23, 2025

Cancer prognosis and treatment results in patients with PTEN Hamartoma Tumour Syndrome (PHTS)-a European cohort study.

Cancer prognosis and treatment results in patients with PTEN Hamartoma Tumour Syndrome (PHTS)-a European cohort study.

Journal: BJC reports

Published: February 13, 2025

Deep Phenotyping of Pathology-Confirmed Benign Lesions in PTEN Hamartoma Tumor Syndrome Patients.

Deep Phenotyping of Pathology-Confirmed Benign Lesions in PTEN Hamartoma Tumor Syndrome Patients.

Journal: Clinical genetics

Published: February 03, 2025

Non-serous ovarian cancer in PTEN Hamartoma Tumor Syndrome: additional evidence for increased risk.

Non-serous ovarian cancer in PTEN Hamartoma Tumor Syndrome: additional evidence for increased risk.

Journal: Familial cancer

Published: January 20, 2025

Exome-based cancer predisposition gene testing can provide a genetic diagnosis for individuals with heterogeneous tumor phenotypes.

Exome-based cancer predisposition gene testing can provide a genetic diagnosis for individuals with heterogeneous tumor phenotypes.

Journal: European journal of human genetics : EJHG

Published: August 16, 2024

The risk of a second primary cancer in PTEN Hamartoma Tumor Syndrome (PHTS).

The risk of a second primary cancer in PTEN Hamartoma Tumor Syndrome (PHTS).

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: August 12, 2024

Experience in a PTEN Hamartoma Tumor Syndrome Expertise Centre: Yield of Thyroid Ultrasound Surveillance in Children with PTEN Hamartoma Tumor Syndrome

Experience in a PTEN Hamartoma Tumor Syndrome Expertise Centre: Yield of Thyroid Ultrasound Surveillance in Children with PTEN Hamartoma Tumor Syndrome

Journal: Journal of clinical research in pediatric endocrinology

Published: August 08, 2024

Exploring the Prevalence of Oral Features for Early Detection of PTEN Hamartoma Tumour Syndrome.

Exploring the Prevalence of Oral Features for Early Detection of PTEN Hamartoma Tumour Syndrome.

Journal: International dental journal

Published: February 23, 2024

The genomic landscape of breast and non-breast cancers from individuals with germline CHEK2 deficiency.

The genomic landscape of breast and non-breast cancers from individuals with germline CHEK2 deficiency.

Journal: JNCI cancer spectrum

Published: February 01, 2024

Showing 1-12 of 52

Last Updated: 09/26/2026