Found: 13

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  • Reanalysis of exome negative patients with rare disease: a pragmatic workflow for diagnostic applications.

    Published in:
    Genome Medicine, 2022, v. 14, p. 1, doi. 10.1186/s13073-022-01069-z
    By:
    • Schobers, Gaby;
    • Schieving, Jolanda H.;
    • Yntema, Helger G.;
    • Pennings, Maartje;
    • Pfundt, Rolph;
    • Derks, Ronny;
    • Hofste, Tom;
    • de Wijs, Ilse;
    • Wieskamp, Nienke;
    • van den Heuvel, Simone;
    • Galbany, Jordi Corominas;
    • Gilissen, Christian;
    • Nelen, Marcel;
    • Brunner, Han G.;
    • Kleefstra, Tjitske;
    • Kamsteeg, Erik-Jan;
    • Willemsen, Michèl A. A. P.;
    • Vissers, Lisenka E. L. M.
    Publication type:
    Article

  • Reanalysis of exome negative patients with rare disease: a pragmatic workflow for diagnostic applications.

    Published in:
    Genome Medicine, 2022, v. 14, n. 1, p. 1, doi. 10.1186/s13073-022-01069-z
    By:
    • Schobers, Gaby;
    • Schieving, Jolanda H.;
    • Yntema, Helger G.;
    • Pennings, Maartje;
    • Pfundt, Rolph;
    • Derks, Ronny;
    • Hofste, Tom;
    • de Wijs, Ilse;
    • Wieskamp, Nienke;
    • van den Heuvel, Simone;
    • Galbany, Jordi Corominas;
    • Gilissen, Christian;
    • Nelen, Marcel;
    • Brunner, Han G.;
    • Kleefstra, Tjitske;
    • Kamsteeg, Erik-Jan;
    • Willemsen, Michèl A. A. P.;
    • Vissers, Lisenka E. L. M.
    Publication type:
    Article

  • Genome sequencing as a generic diagnostic strategy for rare disease.

    Published in:
    Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01301-y
    By:
    • Schobers, Gaby;
    • Derks, Ronny;
    • den Ouden, Amber;
    • Swinkels, Hilde;
    • van Reeuwijk, Jeroen;
    • Bosgoed, Ermanno;
    • Lugtenberg, Dorien;
    • Sun, Su Ming;
    • Corominas Galbany, Jordi;
    • Weiss, Marjan;
    • Blok, Marinus J.;
    • Olde Keizer, Richelle A. C. M.;
    • Hofste, Tom;
    • Hellebrekers, Debby;
    • de Leeuw, Nicole;
    • Stegmann, Alexander;
    • Kamsteeg, Erik-Jan;
    • Paulussen, Aimee D. C.;
    • Ligtenberg, Marjolijn J. L.;
    • Bradley, Xiangqun Zheng
    Publication type:
    Article

  • Comprehensive de novo mutation discovery with HiFi long-read sequencing.

    Published in:
    Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01183-6
    By:
    • Kucuk, Erdi;
    • van der Sanden, Bart P. G. H.;
    • O'Gorman, Luke;
    • Kwint, Michael;
    • Derks, Ronny;
    • Wenger, Aaron M.;
    • Lambert, Christine;
    • Chakraborty, Shreyasee;
    • Baybayan, Primo;
    • Rowell, William J.;
    • Brunner, Han G.;
    • Vissers, Lisenka E. L. M.;
    • Hoischen, Alexander;
    • Gilissen, Christian
    Publication type:
    Article

  • Diagnostic analysis of the highly complex OPN1LW/OPN1MW gene cluster using long-read sequencing and MLPA.

    Published in:
    NPJ Genomic Medicine, 2022, v. 7, n. 1, p. 1, doi. 10.1038/s41525-022-00334-9
    By:
    • Haer-Wigman, Lonneke;
    • den Ouden, Amber;
    • van Genderen, Maria M.;
    • Kroes, Hester Y.;
    • Verheij, Joke;
    • Smailhodzic, Dzenita;
    • Hoekstra, Attje S.;
    • Vijzelaar, Raymon;
    • Blom, Jan;
    • Derks, Ronny;
    • Tjon-Pon-Fong, Menno;
    • Yntema, Helger G.;
    • Nelen, Marcel R.;
    • Vissers, Lisenka E.L.M.;
    • Lugtenberg, Dorien;
    • Neveling, Kornelia
    Publication type:
    Article

  • BRCA Testing by Single-Molecule Molecular Inversion Probes.

    Published in:
    Clinical Chemistry, 2017, v. 63, n. 2, p. 503, doi. 10.1373/clinchem.2016.263897
    By:
    • Neveling, Kornelia;
    • Mensenkamp, Arjen R.;
    • Derks, Ronny;
    • Kwint, Michael;
    • Ouchene, Hicham;
    • Steehouwer, Marloes;
    • van Lier, Bart;
    • Bosgoed, Ermanno;
    • Rikken, Alwin;
    • Tychon, Marloes;
    • Zafeiropoulou, Dimitra;
    • Castelein, Steven;
    • Hehir-Kwa, Jayne;
    • Thung, Djie Tjwan;
    • Hofste, Tom;
    • Lelieveld, Stefan H.;
    • Bertens, Stijn M. M.;
    • Adan, Ivo B. J. F.;
    • Eijkelenboom, Astrid;
    • Tops, Bastiaan B.
    Publication type:
    Article

  • 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

  • Detection of the ACAGG Repeat Motif in RFC1 in Two Dutch Ataxia Families.

    Published in:
    Movement Disorders, 2023, v. 38, n. 8, p. 1555, doi. 10.1002/mds.29441
    By:
    • van de Pol, Milo;
    • O'Gorman, Luke;
    • Corominas‐Galbany, Jordi;
    • Cliteur, Maaike;
    • Derks, Ronny;
    • Verbeek, Nienke E.;
    • van de Warrenburg, Bart;
    • Kamsteeg, Erik‐Jan
    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

  • Cost‐effective molecular inversion probe‐based ABCA4 sequencing reveals deep‐intronic variants in Stargardt disease.

    Published in:
    Human Mutation, 2019, v. 40, n. 10, p. 1749, doi. 10.1002/humu.23787
    By:
    • Khan, Mubeen;
    • Cornelis, Stéphanie S.;
    • Khan, Muhammad Imran;
    • Elmelik, Duaa;
    • Manders, Eline;
    • Bakker, Sem;
    • Derks, Ronny;
    • Neveling, Kornelia;
    • Vorst, Maartje;
    • Gilissen, Christian;
    • Meunier, Isabelle;
    • Defoort, Sabine;
    • Puech, Bernard;
    • Devos, Aurore;
    • Schulz, Heidi L.;
    • Stöhr, Heidi;
    • Grassmann, Felix;
    • Weber, Bernhard H. F.;
    • Dhaenens, Claire‐Marie;
    • Cremers, Frans P. M.
    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

  • Reply to: Pitfalls in the genetic testing of the OPN1LW-OPN1MW gene cluster in human subjects.

    Published in:
    NPJ Genomic Medicine, 2024, v. 9, n. 1, p. 1, doi. 10.1038/s41525-024-00409-9
    By:
    • Haer-Wigman, Lonneke;
    • den Ouden, Amber;
    • Derks, Ronny;
    • van Genderen, Maria M.;
    • Lugtenberg, Dorien;
    • Verheij, Joke;
    • Vijzelaar, Raymon;
    • Yntema, Helger G.;
    • Vissers, Lisenka E. L. M.;
    • Neveling, Kornelia
    Publication type:
    Article

  • Identification of Novel Candidate Genes for Early-Onset Colorectal Cancer Susceptibility.

    Published in:
    PLoS Genetics, 2016, v. 12, n. 2, p. 1, doi. 10.1371/journal.pgen.1005880
    By:
    • de Voer, Richarda M.;
    • Hahn, Marc-Manuel;
    • Weren, Robbert D. A.;
    • Mensenkamp, Arjen R.;
    • Gilissen, Christian;
    • van Zelst-Stams, Wendy A.;
    • Spruijt, Liesbeth;
    • Kets, C. Marleen;
    • Zhang, Junxiao;
    • Venselaar, Hanka;
    • Vreede, Lilian;
    • Schubert, Nil;
    • Tychon, Marloes;
    • Derks, Ronny;
    • Schackert, Hans K.;
    • Geurts van Kessel, Ad;
    • Hoogerbrugge, Nicoline;
    • Ligtenberg, Marjolijn J. L.;
    • Kuiper, Roland P.
    Publication type:
    Article