Saskia J. Hopman
Utrecht, UT, Netherlands
Last Updated: 09/26/2026
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Found 33 publications
The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.
Journal: American journal of human genetics
Published: October 19, 2025
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
Novel Findings in Pediatric and Adolescent Patients With Cancer and a Germline SMARCA4 Variant.
Journal: Pediatric blood & cancer
Published: March 07, 2025
CUL3-related neurodevelopmental disorder: Clinical phenotype of 20 new individuals and identification of a potential phenotype-associated episignature.
Journal: HGG advances
Published: September 05, 2024
Medulloblastomas with ELP1 pathogenic variants: A weakly penetrant syndrome with a restricted spectrum in a limited age window.
Journal: Neuro-oncology advances
Published: July 04, 2024
Comparison of clinical selection-based genetic testing with phenotype-agnostic extensive germline sequencing to diagnose genetic predisposition in children with cancer: a prospective diagnostic study.
Journal: The Lancet. Child & adolescent health
Published: March 25, 2024
ARID1B-related disorder in 87 adults: Natural history and self-sustainability.
Journal: Genetics in medicine open
Published: November 30, 2023
No Pathogenic DICER1 Gene Variants in a Cohort Study of 28 Children With Congenital Pulmonary Airway Malformation.
Journal: Journal of pediatric surgery
Published: June 13, 2023
Assessment of Cancer Predisposition Syndromes in a National Cohort of Children With a Neoplasm.
Journal: JAMA network open
Published: February 03, 2023
The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.
Journal: American journal of human genetics
Published: November 23, 2022
Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: July 12, 2022
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
Last Updated: 09/26/2026