Jet Bliek

Amsterdam, NH, Netherlands

Last Updated: 09/26/2026

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Found 22 publications

Clinical and Molecular Characterization of 46 Patients With Beckwith-Wiedemann Spectrum and Uniparental Disomy of 11p15.

Clinical and Molecular Characterization of 46 Patients With Beckwith-Wiedemann Spectrum and Uniparental Disomy of 11p15.

Journal: American journal of medical genetics. Part A

Published: May 01, 2026

ImprintCap, a powerful NGS-based technology to investigate the molecular background of imprinting disorders.

ImprintCap, a powerful NGS-based technology to investigate the molecular background of imprinting disorders.

Journal: Clinical epigenetics

Published: April 04, 2025

Multi-locus imprinting disturbance (MLID): interim joint statement for clinical and molecular diagnosis.

Multi-locus imprinting disturbance (MLID): interim joint statement for clinical and molecular diagnosis.

Journal: Clinical epigenetics

Published: April 25, 2024

Should testing for mosaic genome-wide paternal uniparental disomy in Beckwith-Wiedemann spectrum (BWSp) be implemented in diagnostic testing?

Should testing for mosaic genome-wide paternal uniparental disomy in Beckwith-Wiedemann spectrum (BWSp) be implemented in diagnostic testing?

Journal: European journal of human genetics : EJHG

Published: March 16, 2023

Sex-specific newborn screening for X-linked adrenoleukodystrophy.

Sex-specific newborn screening for X-linked adrenoleukodystrophy.

Journal: Journal of inherited metabolic disease

Published: August 30, 2022

First step towards a consensus strategy for multi-locus diagnostic testing of imprinting disorders.

First step towards a consensus strategy for multi-locus diagnostic testing of imprinting disorders.

Journal: Clinical epigenetics

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

Trans-acting genetic variants causing multilocus imprinting disturbance (MLID): common mechanisms and consequences.

Trans-acting genetic variants causing multilocus imprinting disturbance (MLID): common mechanisms and consequences.

Journal: Clinical epigenetics

Published: January 07, 2022

Further Introduction of DNA Methylation (DNAm) Arrays in Regular Diagnostics.

Further Introduction of DNA Methylation (DNAm) Arrays in Regular Diagnostics.

Journal: Frontiers in genetics

Published: December 08, 2021

Corrigendum: Adrenoleukodystrophy Newborn Screening in the Netherlands (SCAN Study): The X-Factor.

Corrigendum: Adrenoleukodystrophy Newborn Screening in the Netherlands (SCAN Study): The X-Factor.

Journal: Frontiers in cell and developmental biology

Published: November 20, 2020

Adrenoleukodystrophy Newborn Screening in the Netherlands (SCAN Study): The X-Factor.

Adrenoleukodystrophy Newborn Screening in the Netherlands (SCAN Study): The X-Factor.

Journal: Frontiers in cell and developmental biology

Published: April 08, 2020

Discrepant molecular and clinical diagnoses in Beckwith-Wiedemann and Silver-Russell syndromes.

Discrepant molecular and clinical diagnoses in Beckwith-Wiedemann and Silver-Russell syndromes.

Journal: Genetics research

Published: March 05, 2019

Showing 1-12 of 22

Last Updated: 09/26/2026