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NIPTRIC: an online tool for clinical interpretation of non-invasive prenatal testing (NIPT) results.
Published in:
Scientific Reports, 2016, p. 38359, doi. 10.1038/srep38359
By:
- Sikkema-Raddatz, Birgit;
- Johansson, Lennart F.;
- de Boer, Eddy N.;
- Boon, Elles M. J.;
- Suijkerbuijk, Ron F.;
- Bouman, Katelijne;
- Bilardo, Catia M.;
- Swertz, Morris A.;
- Dijkstra, Martijn;
- van Langen, Irene M.;
- Sinke, Richard J.;
- te Meerman, Gerard J.
Publication type:
Article
Targeted RNA-Sequencing Enables Detection of Relevant Translocations and Single Nucleotide Variants and Provides a Method for Classification of Hematological Malignancies-RANKING.
Published in:
Clinical Chemistry, 2020, v. 66, n. 12, p. 1521, doi. 10.1093/clinchem/hvaa221
By:
- de Lange, Kim;
- de Boer, Eddy N.;
- Bosga, Anneke;
- Alimohamed, Mohamed Z.;
- Johansson, Lennart F.;
- Mulder, André B.;
- Vellenga, Edo;
- van Diemen, Cleo C.;
- Deelen, Patrick;
- van den Berg, Eva;
- Sikkema-Raddatz, Birgit
Publication type:
Article
Detection of Fusion Genes to Determine Minimal Residual Disease in Leukemia Using Next-Generation Sequencing.
Published in:
Clinical Chemistry, 2020, v. 66, n. 8, p. 1084, doi. 10.1093/clinchem/hvaa119
By:
- de Boer, Eddy N.;
- Johansson, Lennart F.;
- Lange, Kim de;
- Bosga-Brouwer, Anneke G.;
- den Berg, Eva van;
- Sikkema-Raddatz, Birgit;
- van Diemen, Cleo C.
Publication type:
Article
Prevalence of intronic repeat expansions in RFC1 in Dutch patients with CANVAS and adult-onset ataxia.
Published in:
Journal of Neurology, 2022, v. 269, n. 11, p. 6086, doi. 10.1007/s00415-022-11275-9
By:
- Ghorbani, Fatemeh;
- de Boer-Bergsma, Jelkje;
- Verschuuren-Bemelmans, Corien C.;
- Pennings, Maartje;
- de Boer, Eddy N.;
- Kremer, Berry;
- Vanhoutte, Els K.;
- de Vries, Jeroen J.;
- van de Berg, Raymond;
- Kamsteeg, Erik-Jan;
- van Diemen, Cleo C.;
- Westers, Helga;
- van de Warrenburg, Bart P.;
- Verbeek, Dineke S.
Publication type:
Article
Future of Dutch NGS-Based Newborn Screening: Exploring the Technical Possibilities and Assessment of a Variant Classification Strategy.
Published in:
International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 1, p. 20, doi. 10.3390/ijns10010020
By:
- Kiewiet, Gea;
- Westra, Dineke;
- de Boer, Eddy N.;
- van Berkel, Emma;
- Hofste, Tom G. J.;
- van Zweeden, Martine;
- Derks, Ronny C.;
- Leijsten, Nico F. A.;
- Ruiterkamp-Versteeg, Martina H. A.;
- Charbon, Bart;
- Johansson, Lennart;
- Bos-Kruizinga, Janneke;
- Veenstra, Inge J.;
- de Sain-van der Velden, Monique G. M.;
- Voorhoeve, Els;
- Heiner-Fokkema, M. Rebecca;
- van Spronsen, Francjan;
- Sikkema-Raddatz, Birgit;
- Nelen, Marcel
Publication type:
Article
GAVIN: Gene-Aware Variant INterpretation for medical sequencing.
Published in:
Genome Biology, 2017, v. 18, p. 1, doi. 10.1186/s13059-016-1141-7
By:
- van der Velde, K. Joeri;
- de Boer, Eddy N.;
- van Diemen, Cleo C.;
- Sikkema-Raddatz, Birgit;
- Knopperts, Alain;
- Franke, Lude;
- Sijmons, Rolf H.;
- de Koning, Tom J.;
- Wijmenga, Cisca;
- Sinke, Richard J.;
- Swertz, Morris A.
Publication type:
Article
NIPTeR: an R package for fast and accurate trisomy prediction in non-invasive prenatal testing.
Published in:
BMC Bioinformatics, 2018, v. 19, n. 1, p. 1, doi. 10.1186/s12859-018-2557-8
By:
- Johansson, Lennart F.;
- de Weerd, Hendrik A.;
- de Boer, Eddy N.;
- van Dijk, Freerk;
- te Meerman, Gerard J.;
- Sijmons, Rolf H.;
- Sikkema-Raddatz, Birgit;
- Swertz, Morris A.
Publication type:
Article
Identification and Copy Number Variant Analysis of Enhancer Regions of Genes Causing Spinocerebellar Ataxia.
Published in:
International Journal of Molecular Sciences, 2024, v. 25, n. 20, p. 11205, doi. 10.3390/ijms252011205
By:
- Ghorbani, Fatemeh;
- de Boer, Eddy N.;
- Fokkens, Michiel R.;
- de Boer-Bergsma, Jelkje;
- Verschuuren-Bemelmans, Corien C.;
- Wierenga, Elles;
- Kasaei, Hamidreza;
- Noordermeer, Daan;
- Verbeek, Dineke S.;
- Westers, Helga;
- van Diemen, Cleo C.
Publication type:
Article
Cas9-directed long-read sequencing to resolve optical genome mapping findings in leukemia diagnostics.
Published in:
Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-59092-6
By:
- de Boer, Eddy N.;
- Vroom, Vincent;
- Scheper, Arjen J.;
- Johansson, Lennart F.;
- Bosscher, Laura;
- Rietema, Nettie;
- Commandeur-Jan, Sabrina Z.;
- Knoers, Nine V. A. M.;
- Sikkema-Raddatz, Birgit;
- van den Berg, Eva;
- van Diemen, Cleo C.
Publication type:
Article

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