OpenURL Connection Search

Select item for more details and to access through your institution.

Reduced connexin40 protein expression in the right atrial appendage of patients bearing the minor connexin40 allele (−44 G → A).
Published in:
EP: Europace, 2012, v. 14, n. 8, p. 1199, doi. 10.1093/europace/eus047
By:
- Chaldoupi, Sevasti-Maria;
- Hubens, Lisette E.G.;
- Smit Duijzentkunst, Daan A.;
- van Stuijvenberg, Leonie;
- Bierhuizen, Marti F.A.;
- van Aarnhem, Egidius E.H.L.;
- Nelen, Marcel;
- de Bakker, Jacques M.T.;
- Hauer, Richard N.W.;
- van Rijen, Harold V.M.;
- Loh, Peter;
- van Veen, Toon A.B.
Publication type:
Article
Optical genome mapping identifies a germline retrotransposon insertion in SMARCB1 in two siblings with atypical teratoid rhabdoid tumors.
Published in:
Journal of Pathology, 2021, v. 255, n. 2, p. 202, doi. 10.1002/path.5755
By:
- Sabatella, Mariangela;
- Mantere, Tuomo;
- Waanders, Esmé;
- Neveling, Kornelia;
- Mensenkamp, Arjen R;
- van Dijk, Freerk;
- Hehir‐Kwa, Jayne Y;
- Derks, Ronnie;
- Kwint, Michael;
- O'Gorman, Luke;
- Tropa Martins, Madalena;
- Gidding, Corrie EM;
- Lequin, Maarten H;
- Küsters, Benno;
- Wesseling, Pieter;
- Nelen, Marcel;
- Biegel, Jacklyn A;
- Hoischen, Alexander;
- Jongmans, Marjolijn C;
- Kuiper, Roland P
Publication type:
Article
Molecular Genetics of X-Linked Hearing Impairment.
Published in:
Annals of the New York Academy of Sciences, 1991, v. 630, n. 1, p. 176, doi. 10.1111/j.1749-6632.1991.tb19586.x
By:
- BRUNNER, HAN G.;
- SMEETS, BERT;
- SMEETS, DOMINIQUE;
- NELEN, MARCEL;
- CREMERS, COR W. R. J.;
- ROPERS, HANS-HILGER
Publication type:
Article
Rapid exome sequencing as a first-tier test in neonates with suspected genetic disorder: results of a prospective multicenter clinical utility study in the Netherlands.
Published in:
European Journal of Pediatrics, 2023, v. 182, n. 6, p. 2683, doi. 10.1007/s00431-023-04909-1
By:
- Olde Keizer, Richelle A. C. M.;
- Marouane, Abderrahim;
- Kerstjens-Frederikse, Wilhelmina S.;
- Deden, A. Chantal;
- Lichtenbelt, Klaske D.;
- Jonckers, Tinneke;
- Vervoorn, Marieke;
- Vreeburg, Maaike;
- Henneman, Lidewij;
- de Vries, Linda S.;
- Sinke, Richard J.;
- Pfundt, Rolph;
- Stevens, Servi J. C.;
- Andriessen, Peter;
- van Lingen, Richard A.;
- Nelen, Marcel;
- Scheffer, Hans;
- Stemkens, Daphne;
- Oosterwijk, Cor;
- van Amstel, Hans Kristian Ploos
Publication type:
Article
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
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
Twist exome capture allows for lower average sequence coverage in clinical exome sequencing.
Published in:
Human Genomics, 2023, v. 17, n. 1, p. 1, doi. 10.1186/s40246-023-00485-5
By:
- Yaldiz, Burcu;
- Kucuk, Erdi;
- Hampstead, Juliet;
- Hofste, Tom;
- Pfundt, Rolph;
- Corominas Galbany, Jordi;
- Rinne, Tuula;
- Yntema, Helger G.;
- Hoischen, Alexander;
- Nelen, Marcel;
- Gilissen, Christian;
- Solve-RD consortium;
- Riess, Olaf;
- Haack, Tobias B.;
- Graessner, Holm;
- Zurek, Birte;
- Ellwanger, Kornelia;
- Ossowski, Stephan;
- Demidov, German;
- Sturm, Marc
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
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
Characterization of a novel transcript of the EHMT1 gene reveals important diagnostic implications for Kleefstra syndrome.
Published in:
Human Mutation, 2011, v. 32, n. 7, p. 853, doi. 10.1002/humu.21523
By:
- Nillesen, Willy M.;
- Yntema, Helger G.;
- Moscarda, Marco;
- Verbeek, Nienke E.;
- Wilson, Louise C.;
- Cowan, Frances;
- Schepens, Marga;
- Raas-Rothschild, Annick;
- Gafni-Weinstein, Orly;
- Zollino, Marcella;
- Vijzelaar, Raymon;
- Neri, Giovanni;
- Nelen, Marcel;
- Bokhoven, Hans van;
- Giltay, Jacques;
- Kleefstra, Tjitske
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: 22