Birgit Raddatz-Sikkema

Groningen, GR, Netherlands

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 47 publications

Next-generation newborn screening: feasibility of combined genetic and biochemical testing for 95 treatable inherited metabolic disorders.

Next-generation newborn screening: feasibility of combined genetic and biochemical testing for 95 treatable inherited metabolic disorders.

Journal: Metabolomics : Official journal of the Metabolomic Society

Published: April 07, 2026

Nanopore Long-Read Sequencing as a First-Tier Diagnostic Test to Detect Repeat Expansions in Neurological Disorders.

Nanopore Long-Read Sequencing as a First-Tier Diagnostic Test to Detect Repeat Expansions in Neurological Disorders.

Journal: International journal of molecular sciences

Published: February 24, 2025

Newborn Screening by DNA-First: Systematic Evaluation of the Eligibility of Inherited Metabolic Disorders Based on Treatability.

Newborn Screening by DNA-First: Systematic Evaluation of the Eligibility of Inherited Metabolic Disorders Based on Treatability.

Journal: International journal of neonatal screening

Published: October 14, 2024

Future of Dutch NGS-Based Newborn Screening: Exploring the Technical Possibilities and Assessment of a Variant Classification Strategy.

Future of Dutch NGS-Based Newborn Screening: Exploring the Technical Possibilities and Assessment of a Variant Classification Strategy.

Journal: International journal of neonatal screening

Published: January 22, 2024

Evolution of genome diagnostics in epidermolysis bullosa: Unveiling the power of next-generation sequencing.

Evolution of genome diagnostics in epidermolysis bullosa: Unveiling the power of next-generation sequencing.

Journal: Journal of the European Academy of Dermatology and Venereology : JEADV

Published: September 08, 2023

Cas9-directed long-read sequencing to resolve optical genome mapping findings in leukemia diagnostics.

Cas9-directed long-read sequencing to resolve optical genome mapping findings in leukemia diagnostics.

Journal: Scientific reports

Published: August 30, 2023

Copy Number Variant Analysis of Spinocerebellar Ataxia Genes in a Cohort of Dutch Patients With Cerebellar Ataxia.

Copy Number Variant Analysis of Spinocerebellar Ataxia Genes in a Cohort of Dutch Patients With Cerebellar Ataxia.

Journal: Neurology. Genetics

Published: June 06, 2022

SEPT-GD: A decision tree to prioritise potential RNA splice variants in cardiomyopathy genes for functional splicing assays in diagnostics.

SEPT-GD: A decision tree to prioritise potential RNA splice variants in cardiomyopathy genes for functional splicing assays in diagnostics.

Journal: Gene

Published: February 20, 2022

Towards Next-Generation Sequencing (NGS)-Based Newborn Screening: A Technical Study to Prepare for the Challenges Ahead.

Towards Next-Generation Sequencing (NGS)-Based Newborn Screening: A Technical Study to Prepare for the Challenges Ahead.

Journal: International journal of neonatal screening

Published: December 24, 2021

Validation of New Gene Variant Classification Methods: a Field-Test in Diagnostic Cardiogenetics.

Validation of New Gene Variant Classification Methods: a Field-Test in Diagnostic Cardiogenetics.

Journal: Frontiers in genetics

Published: November 29, 2021

Feasibility of Follow-Up Studies and Reclassification in Spinocerebellar Ataxia Gene Variants of Unknown Significance.

Feasibility of Follow-Up Studies and Reclassification in Spinocerebellar Ataxia Gene Variants of Unknown Significance.

Journal: Frontiers in genetics

Published: September 24, 2021

Does non-invasive prenatal testing affect the livebirth prevalence of Down syndrome in the Netherlands? A population-based register study.

Does non-invasive prenatal testing affect the livebirth prevalence of Down syndrome in the Netherlands? A population-based register study.

Journal: Prenatal diagnosis

Published: April 20, 2021

Showing 1-12 of 47

Last Updated: 09/26/2026