Birgit Raddatz

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60 Article
10 Meeting Abstract
6 Review article
3 Letter
Meer

Feasibility of Follow-Up Studies and Reclassification in Spinocerebellar Ataxia Gene Variants of Unknown Significance
Ghorbani, F., Alimohamed, M. Z., Vilacha, J. F., Van Dijk, K. K., De Boer-Bergsma, J., Fokkens, M. R., Lemmink, H., Sijmons, R. H., Sikkema-Raddatz, B., Groves, M. R., Verschuuren-Bemelmans, C. C., Verbeek, D. S., Van Diemen, C. C. & Westers, H., 25-mrt-2022, In: Frontiers in Genetics. 13, 13 blz., 782685.
Onderzoeksoutput › Academic › peer review

Open Access
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5 Downloads (Pure)
Towards Next-Generation Sequencing (NGS)-Based Newborn Screening: A Technical Study to Prepare for the Challenges Ahead
Veldman, A., Kiewiet, M. B. G., Heiner-Fokkema, M. R., Nelen, M. R., Sinke, R. J., Sikkema-Raddatz, B., Voorhoeve, E., Westra, D., Dolle, M. E. T., Schielen, P. C. J. & van Spronsen, F. J., mrt-2022, In: International journal of neonatal screening. 8, 1, 11 blz., 17.
Onderzoeksoutput › Academic › peer review

Open Access
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3 Downloads (Pure)
Validation of New Gene Variant Classification Methods: a Field-Test in Diagnostic Cardiogenetics
Alimohamed, M. Z., Westers, H., Vos, Y. J., Van der Velde, K. J., Sijmons, R. H., Van der Zwaag, P. A., Sikkema-Raddatz, B. & Jongbloed, J. D. H., 1-mrt-2022, In: Frontiers in Genetics. 13, 7 blz., 824510.
Onderzoeksoutput › Academic › peer review

Open Access
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2 Downloads (Pure)
Diagnostic yield of targeted next generation sequencing in 2002 Dutch cardiomyopathy patients
Alimohamed, M. Z., Johansson, L., Posafalvi, A., Boven, L. G., van Dijk, K. K., Walters, L., Vos, Y. J., Westers, H., Hoedemaekers, Y. M., Sinke, R. J., Sijmons, R. H., Sikkema-Raddatz, B., Jongbloed, J. D. H. & van der Zwaag, P. A., 1-jun-2021, In: International Journal of Cardiology. 332, blz. 99-104 6 blz.
Onderzoeksoutput › Academic › peer review

Open Access
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3 Citaten (Scopus)

21 Downloads (Pure)
Does non-invasive prenatal testing affect the livebirth prevalence of Down syndrome in the Netherlands? A population-based register study
de Groot-van der Mooren, M., de Graaf, G., Weijerman, M. E., Hoffer, M. J. V., Knijnenburg, J., van der Kevie-Kersemaekers, A-M. M. F., Kooper, A. J. A., Voorhoeve, E., Sikkema-Raddatz, B., van Zutven, L. J. C. M., Srebniak, M. I., Huijsdens-van Amsterdam, K., Engelen, J. J. M., Smeets, D., van Kaam, A. H. & Cornel, M. C., sep-2021, In: Prenatal Diagnosis. 41, 10, blz. 1351-1359 9 blz.
Onderzoeksoutput › Academic › peer review

Open Access
Bestand

3 Citaten (Scopus)

14 Downloads (Pure)

6 Academic event
2 Professional or public event

7th International Cardiovascular Genomic Medicine Conference
Yvonne Vos (Speaker), Mohamed Alimohamed (Speaker), Lennart Johansson (Speaker), Helga Westers (Speaker), Richard Sinke (Speaker), Rolf Sijmons (Speaker), Birgit Sikkema-Raddatz (Speaker), Jan Jongbloed (Speaker) & Paul Zwaag, van der (Speaker)
4-dec-2019 → 5-dec-2019
Activiteit: Professional or public presentation › Professional
Variantanalyse: luctor et emergo Hoe bedwingen we de groeiende berg te interpreteren varianten? Hoe krijg je verbeteringen gerealiseerd?
Birgit Sikkema-Raddatz (Speaker)
20-dec-2018
Activiteit: Professional or public presentation › Professional
Rapid screening of severely ill newborns and infants using whole genome sequencing
Birgit Sikkema-Raddatz (Speaker)
7-apr-2016
Activiteit: Academic presentation › Academic
Rapid screening of severely ill newborns and infants using whole genome sequencing
Birgit Sikkema-Raddatz (Speaker)
24-mei-2016
Activiteit: Academic presentation › Academic
Target Locus Amplification (TLA): A comprehensive new DNA test for detection of fusion genes in leukemia
Birgit Sikkema-Raddatz (Speaker)
29-apr-2015
Activiteit: Academic presentation › Academic

Additional file 3: Table S3. of GAVIN: Gene-Aware Variant INterpretation for medical sequencing
van der Velde, J. (Contributor), de Boer, E. (Contributor), van Diemen, C. (Contributor), Raddatz, B. (Contributor), Abbott, K. (Contributor), Knopperts, A. (Contributor), Franke, L. (Contributor), Sijmons, R. (Contributor), de Koning, T. (Contributor), Wijmenga, C. (Contributor), Sinke, R. (Contributor) & Swertz, M. (Contributor), University of Groningen, 16-jan-2017
DOI: 10.6084/m9.figshare.c.3666643_d3.v1
Dataset
Additional file 1: Table S1. of GAVIN: Gene-Aware Variant INterpretation for medical sequencing
van der Velde, J. (Contributor), de Boer, E. N. (Contributor), van Diemen, C. (Contributor), Raddatz, B. (Contributor), Abbott, K. (Contributor), Knopperts, A. (Contributor), Franke, L. (Contributor), Sijmons, R. (Contributor), de Koning, T. (Contributor), Wijmenga, C. (Contributor), Sinke, R. (Contributor) & Swertz, M. (Contributor), University of Groningen, 16-jan-2017
DOI: 10.6084/m9.figshare.c.3666643_d4.v1
Dataset
Additional file 4: of NIPTeR: an R package for fast and accurate trisomy prediction in non-invasive prenatal testing
Johansson, L. (Contributor), Weerd ,de, H. (Contributor), de Boer, E. (Contributor), van Dijk, F. (Contributor), te Meerman, G. (Contributor), Sijmons, R. (Contributor), Raddatz, B. (Contributor) & Swertz, M. (Contributor), University of Groningen, 17-dec-2018
DOI: 10.6084/m9.figshare.7479074.v1
Dataset
Additional file 3: of NIPTeR: an R package for fast and accurate trisomy prediction in non-invasive prenatal testing
Johansson, L. (Contributor), Weerd, H. (Contributor), de Boer, E. (Contributor), van Dijk, F. (Contributor), te Meerman, G. (Contributor), Sijmons, R. (Contributor), Raddatz, B. (Contributor) & Swertz, M. (Contributor), University of Groningen, 17-dec-2018
DOI: 10.6084/m9.figshare.7479071.v1
Dataset
Additional file 5: of NIPTeR: an R package for fast and accurate trisomy prediction in non-invasive prenatal testing
Johansson, L. (Contributor), Weerd, H. (Contributor), de Boer, E. (Contributor), van Dijk, F. (Contributor), te Meerman, G. (Contributor), Sijmons, R. (Contributor), Raddatz, B. (Contributor) & Swertz, M. (Contributor), University of Groningen, 17-dec-2018
DOI: 10.6084/m9.figshare.7479080.v1
Dataset

Birgit Raddatz

Netwerk

Duik in details

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

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

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

Diagnostic yield of targeted next generation sequencing in 2002 Dutch cardiomyopathy patients

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

7th International Cardiovascular Genomic Medicine Conference

Variantanalyse: luctor et emergo Hoe bedwingen we de groeiende berg te interpreteren varianten? Hoe krijg je verbeteringen gerealiseerd?

Rapid screening of severely ill newborns and infants using whole genome sequencing

Rapid screening of severely ill newborns and infants using whole genome sequencing

Target Locus Amplification (TLA): A comprehensive new DNA test for detection of fusion genes in leukemia

Additional file 3: Table S3. of GAVIN: Gene-Aware Variant INterpretation for medical sequencing

Additional file 1: Table S1. of GAVIN: Gene-Aware Variant INterpretation for medical sequencing

Additional file 4: of NIPTeR: an R package for fast and accurate trisomy prediction in non-invasive prenatal testing

Additional file 3: of NIPTeR: an R package for fast and accurate trisomy prediction in non-invasive prenatal testing

Additional file 5: of NIPTeR: an R package for fast and accurate trisomy prediction in non-invasive prenatal testing

Birgit Raddatz

Netwerk

Onderzoeksoutput

Activiteiten

Datasets