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Translating Sanger-Based Routine DNA Diagnostics into Generic Massive Parallel Ion Semiconductor Sequencing.
Published in:
Clinical Chemistry, 2015, v. 61, n. 1, p. 154, doi. 10.1373/clinchem.2014.225250
By:
- Diekstra, Adinda;
- Bosgoed, Ermanno;
- Rikken, Alwin;
- van Lier, Bart;
- Kamsteeg, Erik-Jan;
- Tychon, Marloes;
- Derks, Ronny C.;
- van Soest, Ronald A.;
- Mensenkamp, Arjen R.;
- Scheffer, Hans;
- Neveling, Kornelia;
- Nelen, Marcel R.
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
A Post-Hoc Comparison of the Utility of Sanger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases.
Published in:
Human Mutation, 2013, v. 34, n. 12, p. 1721, doi. 10.1002/humu.22450
By:
- Neveling, Kornelia;
- Feenstra, Ilse;
- Gilissen, Christian;
- Hoefsloot, Lies H.;
- Kamsteeg, Erik‐Jan;
- Mensenkamp, Arjen R.;
- Rodenburg, Richard J. T.;
- Yntema, Helger G.;
- Spruijt, Liesbeth;
- Vermeer, Sascha;
- Rinne, Tuula;
- Gassen, Koen L.;
- Bodmer, Danielle;
- Lugtenberg, Dorien;
- Reuver, Rick;
- Buijsman, Wendy;
- Derks, Ronny C.;
- Wieskamp, Nienke;
- Heuvel, Bert;
- Ligtenberg, Marjolijn J.L.
Publication type:
Article

Found: 3

Translating Sanger-Based Routine DNA Diagnostics into Generic Massive Parallel Ion Semiconductor Sequencing.

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

A Post-Hoc Comparison of the Utility of Sanger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases.