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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
Activation Delay and VT Parameters in Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy: Toward Improvement of Diagnostic ECG Criteria.
Published in:
Journal of Cardiovascular Electrophysiology, 2008, v. 19, n. 8, p. 775, doi. 10.1111/j.1540-8167.2008.01140.x
By:
- COX, MONIEK G.P.J.;
- NELEN, MARCEL R.;
- WILDE, ARTHUR A.M.;
- WIESFELD, ANS C.;
- SMAGT, JASPER, Jvd;
- LOH, PETER;
- CRAMER, MAARTEN J.;
- DOEVENDANS, PIETER A.;
- TINTELEN, J. PETER v;
- De BAKKER, JACQUES M.T.;
- HAUER, RICHARD N.W.
Publication type:
Article
Novel PTEN mutations in patients with Cowden disease: absence of clear genotype–phenotype correlations.
Published in:
European Journal of Human Genetics, 1999, v. 7, n. 3, p. 267, doi. 10.1038/sj.ejhg.5200289
By:
- Nelen, Marcel R;
- Kremer, Hannie;
- Konings, Irene BM;
- Schoute, Frans;
- Essen, Anton J van;
- Koch, Rainer;
- Woods, C Geoffrey;
- Fryns, Jean-Pierre;
- Hamel, Ben;
- Hoefsloot, Lies H;
- Peeters, Els AJ;
- Padberg, George W
Publication type:
Article
Is the $1000 Genome as Near as We Think? A Cost Analysis of Next-Generation Sequencing.
Published in:
Clinical Chemistry, 2016, v. 62, n. 11, p. 1458, doi. 10.1373/clinchem.2016.258632
By:
- van Nimwegen, Kirsten J. M.;
- van Soest, Ronald A.;
- Veltman, Joris A.;
- Nelen, Marcel R.;
- van der Wilt, Gert Jan;
- Vissers, Lisenka E. L. M.;
- Grutters, Janneke P. C.
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
Towards Next-Generation Sequencing (NGS)-Based Newborn Screening: A Technical Study to Prepare for the Challenges Ahead.
Published in:
International Journal of Neonatal Screening (IJNS), 2022, v. 8, n. 1, p. 17, doi. 10.3390/ijns8010017
By:
- Veldman, Abigail;
- Kiewiet, Mensiena B. G.;
- Heiner-Fokkema, Margaretha Rebecca;
- Nelen, Marcel R.;
- Sinke, Richard J.;
- Sikkema-Raddatz, Birgit;
- Voorhoeve, Els;
- Westra, Dineke;
- Dollé, Martijn E. T.;
- Schielen, Peter C. J. I.;
- van Spronsen, Francjan J.
Publication type:
Article
Clinical exome sequencing—Mistakes and caveats.
Published in:
Human Mutation, 2022, v. 43, n. 8, p. 1041, doi. 10.1002/humu.24360
By:
- Corominas, Jordi;
- Smeekens, Sanne P.;
- Nelen, Marcel R.;
- Yntema, Helger G.;
- Kamsteeg, Erik‐Jan;
- Pfundt, Rolph;
- Gilissen, Christian
Publication type:
Article
Novel BRCA1 and BRCA2 Tumor Test as Basis for Treatment Decisions and Referral for Genetic Counselling of Patients with Ovarian Carcinomas.
Published in:
Human Mutation, 2017, v. 38, n. 2, p. 226, doi. 10.1002/humu.23137
By:
- Weren, Robbert D.A.;
- Mensenkamp, Arjen R.;
- Simons, Michiel;
- Eijkelenboom, Astrid;
- Sie, Aisha S.;
- Ouchene, Hicham;
- Asseldonk, Monique;
- Gomez‐Garcia, Encarna B.;
- Blok, Marinus J.;
- Hullu, Joanne A.;
- Nelen, Marcel R.;
- Hoischen, Alexander;
- Bulten, Johan;
- Tops, Bastiaan B.J.;
- Hoogerbrugge, Nicoline;
- Ligtenberg, Marjolijn J.L.
Publication type:
Article
Best Practice Guidelines for the Use of Next-Generation Sequencing Applications in Genome Diagnostics: A National Collaborative Study of Dutch Genome Diagnostic Laboratories.
Published in:
Human Mutation, 2013, v. 34, n. 10, p. 1313, doi. 10.1002/humu.22368
By:
- Weiss, Marjan M.;
- Zwaag, Bert;
- Jongbloed, Jan D. H.;
- Vogel, Maartje J.;
- Brüggenwirth, Hennie T.;
- Lekanne Deprez, Ronald H.;
- Mook, Olaf;
- Ruivenkamp, Claudia A. L.;
- Slegtenhorst, Marjon A.;
- Wijngaard, Arthur;
- Waisfisz, Quinten;
- Nelen, Marcel R.;
- Stoep, Nienke
Publication type:
Article
Somatic expansion behaviour ofthe (CTG)n repeat in myotonic dystrophy knock-in miceis differentially affected by Msh3 and Msh6 mismatch–repairproteins.
Published in:
Human Molecular Genetics, 2002, v. 11, n. 2, p. 191, doi. 10.1093/hmg/11.2.191
By:
- vanden Broek, Walther J. A. A.;
- Nelen, Marcel R.;
- Wansink, DerickG.;
- Coerwinkel, MargaM.;
- teRiele, Hein;
- Groenen, PatriciaJ. T. A.;
- Wieringa, Bé
Publication type:
Article
Fen1 does not control somatic hypermutability of the (CTG)<sub> n </sub> ·(CAG)<sub> n </sub> repeat in a knock-in mouse model for DM1
Published in:
FEBS Letters, 2006, v. 580, n. 22, p. 5208, doi. 10.1016/j.febslet.2006.08.059
By:
- van den Broek, Walther J.A.A.;
- Nelen, Marcel R.;
- van der Heijden, Godfried W.;
- Wansink, Derick G.;
- Wieringa, Bé
Publication type:
Article
Germline Mutations in the PTEN/MMAC1 Gene in Patients With Cowden Disease.
Published in:
Human Molecular Genetics, 1997, v. 6, n. 8, p. 1383, doi. 10.1093/hmg/6.8.1383
By:
- Nelen, Marcel R.;
- van Staveren, Wilma C. G.;
- Peeters, Els A. J.;
- Ben Hassel, Mohammed;
- Gorlin, Robert J.;
- Hamm, Henning;
- Lindboe, Christian F.;
- Fryns, Jean-Pierre;
- Sijmons, Rolf H.;
- Woods, D. Geoffrey;
- Mariman, Edwin C. M.;
- Padberg, George W.;
- Kremer, Hannie
Publication type:
Article
Different mutations in the COL4A5 collagen gene in two patients with different features of Alport syndrome.
Published in:
Kidney International, 1992, v. 42, n. 1, p. 83, doi. 10.1038/ki.1992.264
By:
- Smeets, Hubert J. M.;
- Melenhorst, Jos J.;
- Lemmink, Henny H.;
- Schröoder, Cock H.;
- Nelen, Marcel R.;
- Jing Zhou;
- Hostikka, Sirkka L.;
- Tryggvason, Karl;
- Ropers, Hans-Hilger;
- Jansweuer, Maaike C. E.;
- Monnens, Leo A. H.;
- Brunner, Han G.;
- van Oost, Bernard A.
Publication type:
Article

Found: 13