Birgit Raddatz

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62 Article
10 Meeting Abstract
6 Review article
3 Letter
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Copy Number Variant Analysis of Spinocerebellar Ataxia Genes in a Cohort of Dutch Patients with Cerebellar Ataxia
Ghorbani, F., De Boer, E. N., Benjamins-Stok, M., Verschuuren-Bemelmans, C. C., Knapper, J., De Boer-Bergsma, J., De Vries, J. J., Sikkema-Raddatz, B., Verbeek, D. S., Westers, H. & Van Diemen, C. C., 2-Feb-2023, In: Neurology: Genetics. 9, 1, e200050.
Research output: Contribution to journal › Article › Academic › peer-review
SEPT–GD: A decision tree to prioritise potential RNA splice variants in cardiomyopathy genes for functional splicing assays in diagnostics
Alimohamed, M. Z., Boven, L. G., van Dijk, K. K., Vos, Y. J., Hoedemaekers, Y. M., van der Zwaag, P. A., Sijmons, R. H., Jongbloed, J. D. H., Sikkema-Raddatz, B. & Westers, H., 30-Jan-2023, In: Gene. 851, 10 p., 146984.
Research output: Contribution to journal › Article › Academic › peer-review

Open Access
File

14 Downloads (Pure)
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-Mar-2022, In: Frontiers in Genetics. 13, 13 p., 782685.
Research output: Contribution to journal › Article › Academic › peer-review

Open Access
File

2 Citations (Scopus)

18 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., Mar-2022, In: International journal of neonatal screening. 8, 1, 11 p., 17.
Research output: Contribution to journal › Article › Academic › peer-review

Open Access
File

10 Citations (Scopus)

41 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-Mar-2022, In: Frontiers in Genetics. 13, 7 p., 824510.
Research output: Contribution to journal › Article › Academic › peer-review

Open Access
File

6 Downloads (Pure)

6 Academic presentation
2 Professional or public presentation

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
Activity: Talk and presentation › 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
Activity: Talk and presentation › Professional or public presentation › Professional
Rapid screening of severely ill newborns and infants using whole genome sequencing
Birgit Sikkema-Raddatz (Speaker)
7-Apr-2016
Activity: Talk and presentation › Academic presentation › Academic
Rapid screening of severely ill newborns and infants using whole genome sequencing
Birgit Sikkema-Raddatz (Speaker)
24-May-2016
Activity: Talk and presentation › Academic presentation › Academic
From whole genome to diagnosis for critically ill newborns in 5 days
Birgit Sikkema-Raddatz (Speaker)
16-Apr-2015
Activity: Talk and presentation › Academic presentation › Academic

Additional file 2: Table S2. of GAVIN: Gene-Aware Variant INterpretation for medical sequencing
de Koning, T. (Contributor), Sijmons, R. (Contributor), Raddatz, B. (Contributor), Swertz, M. (Contributor), de Boer, E. (Contributor), Wijmenga, C. (Contributor), Sinke, R. (Contributor), van Diemen, C. (Contributor), Knopperts, A. (Contributor), Franke, L. (Contributor), Abbott, K. (Contributor) & van der Velde, J. (Contributor), University of Groningen, 16-Jan-2017
DOI: 10.6084/m9.figshare.c.3666643_d2.v1
Dataset
Additional file 1: Table S1. 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_d4.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
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 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

Birgit Raddatz

Network

Dive into details

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

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

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

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

From whole genome to diagnosis for critically ill newborns in 5 days

Additional file 2: Table S2. 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 5: 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 3: Table S3. of GAVIN: Gene-Aware Variant INterpretation for medical sequencing

Birgit Raddatz

Network

Research output

Activities

Datasets