Publications by authors named "Birgit Sikkema-Raddatz"

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Nanopore Long-Read Sequencing as a First-Tier Diagnostic Test to Detect Repeat Expansions in Neurological Disorders.
Eddy N de Boer, Arjen J Scheper, Dennis Hendriksen, Bart Charbon, Gerben van der Vries, Birgit Sikkema-Raddatz

Int J Mol Sci· March 2025

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Newborn Screening by DNA-First: Systematic Evaluation of the Eligibility of Inherited Metabolic Disorders Based on Treatability.
Abigail Veldman, Birgit Sikkema-Raddatz, Terry G J Derks, Clara D M van Karnebeek, M B Gea Kiewiet

Int J Neonatal Screen· December 2024

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Cas9-directed long-read sequencing to resolve optical genome mapping findings in leukemia diagnostics.
Eddy N de Boer, Vincent Vroom, Arjen J Scheper, Lennart F Johansson, Laura Bosscher, Birgit Sikkema-Raddatz

Sci Rep· April 2024

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Future of Dutch NGS-Based Newborn Screening: Exploring the Technical Possibilities and Assessment of a Variant Classification Strategy.
Gea Kiewiet, Dineke Westra, Eddy N de Boer, Emma van Berkel, Tom G J Hofste, Birgit Sikkema-Raddatz

Int J Neonatal Screen· March 2024

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Copy Number Variant Analysis of Spinocerebellar Ataxia Genes in a Cohort of Dutch Patients With Cerebellar Ataxia.
Fatemeh Ghorbani, Eddy N de Boer, Marloes Benjamins-Stok, Corien C Verschuuren-Bemelmans, Jurjen Knapper, Birgit Sikkema-Raddatz

Neurol Genet· February 2023

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SEPT-GD: A decision tree to prioritise potential RNA splice variants in cardiomyopathy genes for functional splicing assays in diagnostics.
Mohamed Z Alimohamed, Ludolf G Boven, Krista K van Dijk, Yvonne J Vos, Yvonne M Hoedemaekers, Birgit Sikkema-Raddatz

Gene· January 2023

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Validation of New Gene Variant Classification Methods: a Field-Test in Diagnostic Cardiogenetics.
Mohamed Z Alimohamed, Helga Westers, Yvonne J Vos, K Joeri Van der Velde, Rolf H Sijmons, Birgit Sikkema-Raddatz

Front Genet· March 2022

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Feasibility of Follow-Up Studies and Reclassification in Spinocerebellar Ataxia Gene Variants of Unknown Significance.
Fatemeh Ghorbani, Mohamed Z Alimohamed, Juliana F Vilacha, Krista K Van Dijk, Jelkje De Boer-Bergsma, Birgit Sikkema-Raddatz

Front Genet· March 2022

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Towards Next-Generation Sequencing (NGS)-Based Newborn Screening: A Technical Study to Prepare for the Challenges Ahead.
Abigail Veldman, Mensiena B G Kiewiet, Margaretha Rebecca Heiner-Fokkema, Marcel R Nelen, Richard J Sinke, Birgit Sikkema-Raddatz

Int J Neonatal Screen· February 2022

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Does non-invasive prenatal testing affect the livebirth prevalence of Down syndrome in the Netherlands? A population-based register study.
Maurike de Groot-van der Mooren, Gert de Graaf, Michel E Weijerman, Mariette J V Hoffer, Jeroen Knijnenburg, Birgit Sikkema-Raddatz

Prenat Diagn· September 2021

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Diagnostic yield of targeted next generation sequencing in 2002 Dutch cardiomyopathy patients.
Mohamed Z Alimohamed, Lennart F Johansson, Anna Posafalvi, Ludolf G Boven, Krista K van Dijk, Birgit Sikkema-Raddatz

Int J Cardiol· June 2021

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Strategies in Rapid Genetic Diagnostics of Critically Ill Children: Experiences From a Dutch University Hospital.
Miriam E Imafidon, Birgit Sikkema-Raddatz, Kristin M Abbott, Martine T Meems-Veldhuis, Morris A Swertz

Front Pediatr· May 2021

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A pipeline-friendly software tool for genome diagnostics to prioritize genes by matching patient symptoms to literature.
K Joeri van der Velde, Sander van den Hoek, Freerk van Dijk, Dennis Hendriksen, Cleo C van Diemen, Birgit Sikkema-Raddatz

Adv Genet (Hoboken)· December 2020

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Targeted RNA-Sequencing Enables Detection of Relevant Translocations and Single Nucleotide Variants and Provides a Method for Classification of Hematological Malignancies-RANKING.
Kim de Lange, Eddy N de Boer, Anneke Bosga, Mohamed Z Alimohamed, Lennart F Johansson, Birgit Sikkema-Raddatz

Clin Chem· December 2020

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Under-reported aspects of diagnosis and treatment addressed in the Dutch-Flemish guideline for comprehensive diagnostics in disorders/differences of sex development.
Yolande van Bever, Hennie T Brüggenwirth, Katja P Wolffenbuttel, Arianne B Dessens, Irene A L Groenenberg, Birgit Sikkema-Raddatz

J Med Genet· September 2020

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A prospective study on rapid exome sequencing as a diagnostic test for multiple congenital anomalies on fetal ultrasound.
Nicole Corsten-Janssen, Katelijne Bouman, Janouk C D Diphoorn, Arjen J Scheper, Rianne Kinds, Birgit Sikkema-Raddatz

Prenat Diagn· September 2020

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Detection of Fusion Genes to Determine Minimal Residual Disease in Leukemia Using Next-Generation Sequencing.
Eddy N de Boer, Lennart F Johansson, Kim de Lange, Anneke G Bosga-Brouwer, Eva van den Berg, Birgit Sikkema-Raddatz

Clin Chem· August 2020

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CAPICE: a computational method for Consequence-Agnostic Pathogenicity Interpretation of Clinical Exome variations.
Shuang Li, K Joeri van der Velde, Dick de Ridder, Aalt D J van Dijk, Dimitrios Soudis, Birgit Sikkema-Raddatz

Genome Med· August 2020

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TRIDENT-2: National Implementation of Genome-wide Non-invasive Prenatal Testing as a First-Tier Screening Test in the Netherlands.
Karuna R M van der Meij, Erik A Sistermans, Merryn V E Macville, Servi J C Stevens, Caroline J Bax, Birgit Sikkema-Raddatz

Am J Hum Genet· December 2019

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Improving the diagnostic yield of exome- sequencing by predicting gene-phenotype associations using large-scale gene expression analysis.
Patrick Deelen, Sipko van Dam, Johanna C Herkert, Juha M Karjalainen, Harm Brugge, Birgit Sikkema-Raddatz

Nat Commun· June 2019

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NIPTeR: an R package for fast and accurate trisomy prediction in non-invasive prenatal testing.
Lennart F Johansson, Hendrik A de Weerd, Eddy N de Boer, Freerk van Dijk, Gerard J Te Meerman, Birgit Sikkema-Raddatz

BMC Bioinformatics· December 2018

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Genetic Screening Test to Detect Translocations in Acute Leukemias by Use of Targeted Locus Amplification.
Mohamed Z Alimohamed, Lennart F Johansson, Eddy N de Boer, Erik Splinter, Petra Klous, Birgit Sikkema-Raddatz

Clin Chem· July 2018

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Rapid Targeted Genomics in Critically Ill Newborns.
Cleo C van Diemen, Wilhelmina S Kerstjens-Frederikse, Klasien A Bergman, Tom J de Koning, Birgit Sikkema-Raddatz

Pediatrics· October 2017

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GAVIN: Gene-Aware Variant INterpretation for medical sequencing.
K Joeri van der Velde, Eddy N de Boer, Cleo C van Diemen, Birgit Sikkema-Raddatz, Kristin M Abbott

Genome Biol· January 2017

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NIPTRIC: an online tool for clinical interpretation of non-invasive prenatal testing (NIPT) results.
Birgit Sikkema-Raddatz, Lennart F Johansson, Eddy N de Boer, Elles M J Boon, Ron F Suijkerbuijk

Sci Rep· December 2016

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