Janna A. Hol

Rotterdam, ZH, Netherlands

Last Updated: 09/26/2026

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Found 28 publications

Clinical utility of DNA-methylation signatures in routine diagnostics for neurodevelopmental disorders.

Clinical utility of DNA-methylation signatures in routine diagnostics for neurodevelopmental disorders.

Journal: European journal of human genetics : EJHG

Published: February 13, 2025

Wilms tumor characteristics in children with heterozygous germline DIS3L2 variants.

Wilms tumor characteristics in children with heterozygous germline DIS3L2 variants.

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

Published: October 22, 2024

Clinical Characterization of a National Cohort of Patients With Germline WT1 Variants Including Late-Onset Phenotypes.

Clinical Characterization of a National Cohort of Patients With Germline WT1 Variants Including Late-Onset Phenotypes.

Journal: Kidney international reports

Published: April 04, 2024

Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome.

Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome.

Journal: American journal of human genetics

Published: April 01, 2024

Clinical Relevance of Rapid FOXF1-Targeted Sequencing in Patients Suspected of Alveolar Capillary Dysplasia With Misalignment of Pulmonary Veins.

Clinical Relevance of Rapid FOXF1-Targeted Sequencing in Patients Suspected of Alveolar Capillary Dysplasia With Misalignment of Pulmonary Veins.

Journal: Laboratory investigation; a journal of technical methods and pathology

Published: April 11, 2023

Assessment of Cancer Predisposition Syndromes in a National Cohort of Children With a Neoplasm.

Assessment of Cancer Predisposition Syndromes in a National Cohort of Children With a Neoplasm.

Journal: JAMA network open

Published: February 03, 2023

Reclassification of a likely pathogenic Dutch founder variant in KCNH2; implications of reduced penetrance.

Reclassification of a likely pathogenic Dutch founder variant in KCNH2; implications of reduced penetrance.

Journal: Human molecular genetics

Published: August 23, 2022

Pediatric renal tumor epidemiology: Global perspectives, progress, and challenges.

Pediatric renal tumor epidemiology: Global perspectives, progress, and challenges.

Journal: Pediatric blood & cancer

Published: July 31, 2022

Pediatric renal tumor epidemiology: Global perspectives, progress, and challenges.

Pediatric renal tumor epidemiology: Global perspectives, progress, and challenges.

Journal: Pediatric blood & cancer

Published: July 31, 2022

Parents' experiences with large-scale sequencing for genetic predisposition in pediatric renal cancer: A qualitative study.

Parents' experiences with large-scale sequencing for genetic predisposition in pediatric renal cancer: A qualitative study.

Journal: Psycho-oncology

Published: May 20, 2022

Prevalence of (Epi)genetic Predisposing Factors in a 5-Year Unselected National Wilms Tumor Cohort: A Comprehensive Clinical and Genomic Characterization.

Prevalence of (Epi)genetic Predisposing Factors in a 5-Year Unselected National Wilms Tumor Cohort: A Comprehensive Clinical and Genomic Characterization.

Journal: Journal of clinical oncology : official journal of the American Society of Clinical Oncology

Published: March 01, 2022

Bilateral Renal Tumors in Children: The First 5 Years' Experience of National Centralization in The Netherlands and a Narrative Review of the Literature.

Bilateral Renal Tumors in Children: The First 5 Years' Experience of National Centralization in The Netherlands and a Narrative Review of the Literature.

Journal: Journal of clinical medicine

Published: October 11, 2021

Showing 1-12 of 28

Last Updated: 09/26/2026