Impact of genotype on clinical course in arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated mutation carriers
Bhonsale, Aditya, Groeneweg, Judith A, James, Cynthia A, Dooijes, Dennis, Tichnell, Crystal, Jongbloed, Jan D H, Murray, Brittney, te Riele, Anneline S J M, van den Berg, Maarten P, Bikker, Hennie, Atsma, Douwe E, de Groot, Natasja M, Houweling, Arjan C, van der Heijden, Jeroen F, Russell, Stuart D, Doevendans, Pieter A, van Veen, Toon A, Tandri, Harikrishna, Wilde, Arthur A, Judge, Daniel P, van Tintelen, J Peter, Calkins, Hugh, Hauer, Richard N
Published in European heart journal (07.04.2015)
Published in European heart journal (07.04.2015)
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Targeted Next-Generation Sequencing can Replace Sanger Sequencing in Clinical Diagnostics
Sikkema-Raddatz, Birgit, Johansson, Lennart F., de Boer, Eddy N., Almomani, Rowida, Boven, Ludolf G., van den Berg, Maarten P., van Spaendonck-Zwarts, Karin Y., van Tintelen, J. Peter, Sijmons, Rolf H., Jongbloed, Jan D. H., Sinke, Richard J.
Published in Human mutation (01.07.2013)
Published in Human mutation (01.07.2013)
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Relevance of Titin Missense and Non-Frameshifting Insertions/Deletions Variants in Dilated Cardiomyopathy
Akinrinade, Oyediran, Heliö, Tiina, Lekanne Deprez, Ronald H, Jongbloed, Jan D H, Boven, Ludolf G, van den Berg, Maarten P, Pinto, Yigal M, Alastalo, Tero-Pekka, Myllykangas, Samuel, Spaendonck-Zwarts, Karin van, Tintelen, J Peter van, van der Zwaag, Paul A, Koskenvuo, Juha
Published in Scientific reports (11.03.2019)
Published in Scientific reports (11.03.2019)
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Peripartum Cardiomyopathy as a Part of Familial Dilated Cardiomyopathy
VAN SPAENDONCK-ZWARTS, Karin Y, VAN TINTELEN, J. Peter, VAN VELDHUISEN, Dirk J, VAN DER WERF, Rik, JONGBLOED, Jan D. H, PAULUS, Walter J, DOOIJES, Dennis, VAN DEN BERG, Maarten P
Published in Circulation (New York, N.Y.) (25.05.2010)
Published in Circulation (New York, N.Y.) (25.05.2010)
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Rapid Targeted Genomics in Critically Ill Newborns
van Diemen, Cleo C, Kerstjens-Frederikse, Wilhelmina S, Bergman, Klasien A, de Koning, Tom J, Sikkema-Raddatz, Birgit, van der Velde, Joeri K, Abbott, Kristin M, Herkert, Johanna C, Löhner, Katharina, Rump, Patrick, Meems-Veldhuis, Martine T, Neerincx, Pieter B T, Jongbloed, Jan D H, van Ravenswaaij-Arts, Conny M, Swertz, Morris A, Sinke, Richard J, van Langen, Irene M, Wijmenga, Cisca
Published in Pediatrics (Evanston) (01.10.2017)
Published in Pediatrics (Evanston) (01.10.2017)
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Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy: Pathogenic Desmosome Mutations in Index-Patients Predict Outcome of Family Screening: Dutch Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Genotype-Phenotype Follow-Up Study
COX, Moniek G. P. J, VAN DER ZWAAG, Paul A, DOOIJES, Dennis, VAN DEN WIJNGAARD, Arthur, HOUWELING, Arjan C, JONGBLOED, Jan D. H, JORDAENS, Luc, CRAMER, Maarten J, DOEVENDANS, Pieter A, DE BAKKER, Jacques M. T, WILDE, Arthur A. M, VAN TINTELEN, J. Peter, VAN DER WERF, Christian, HAUER, Richard N. W, VAN DER SMAGT, Jasper J, NOORMAN, Maartje, BHUIYAN, Zahir A, WIESFELD, Ans C. P, VOLDERS, Paul G. A, VAN LANGEN, Irene M, ATSMA, Douwe E
Published in Circulation (New York, N.Y.) (14.06.2011)
Published in Circulation (New York, N.Y.) (14.06.2011)
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The genetic architecture of Plakophilin 2 cardiomyopathy
Dries, Annika M., Kirillova, Anna, Reuter, Chloe M., Garcia, John, Zouk, Hana, Hawley, Megan, Murray, Brittney, Tichnell, Crystal, Pilichou, Kalliopi, Protonotarios, Alexandros, Medeiros-Domingo, Argelia, Kelly, Melissa A., Baras, Aris, Ingles, Jodie, Semsarian, Christopher, Bauce, Barbara, Celeghin, Rudy, Basso, Cristina, Jongbloed, Jan D.H., Nussbaum, Robert L., Funke, Birgit, Cerrone, Marina, Mestroni, Luisa, Taylor, Matthew R.G., Sinagra, Gianfranco, Merlo, Marco, Saguner, Ardan M., Elliott, Perry M., Syrris, Petros, van Tintelen, J. Peter, James, Cynthia A., Haggerty, Christopher M., Parikh, Victoria N.
Published in Genetics in medicine (01.10.2021)
Published in Genetics in medicine (01.10.2021)
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The ARVD/C Genetic Variants Database: 2014 Update
Lazzarini, Elisabetta, Jongbloed, Jan D. H., Pilichou, Kalliopi, Thiene, Gaetano, Basso, Cristina, Bikker, Hennie, Charbon, Bart, Swertz, Morris, van Tintelen, J. Peter, van der Zwaag, Paul A.
Published in Human mutation (01.04.2015)
Published in Human mutation (01.04.2015)
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Titin gene mutations are common in families with both peripartum cardiomyopathy and dilated cardiomyopathy
van Spaendonck-Zwarts, Karin Y, Posafalvi, Anna, van den Berg, Maarten P, Hilfiker-Kleiner, Denise, Bollen, Ilse A E, Sliwa, Karen, Alders, Mariëlle, Almomani, Rowida, van Langen, Irene M, van der Meer, Peter, Sinke, Richard J, van der Velden, Jolanda, Van Veldhuisen, Dirk J, van Tintelen, J Peter, Jongbloed, Jan D H
Published in European heart journal (21.08.2014)
Published in European heart journal (21.08.2014)
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Two minimal Tat translocases in Bacillus
Jongbloed, Jan D. H., Grieger, Ulrike, Antelmann, Haike, Hecker, Michael, Nijland, Reindert, Bron, Sierd, Van Dijl, Jan Maarten
Published in Molecular microbiology (01.12.2004)
Published in Molecular microbiology (01.12.2004)
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CoNVaDING: Single Exon Variation Detection in Targeted NGS Data
Johansson, Lennart F., van Dijk, Freerk, de Boer, Eddy N., van Dijk-Bos, Krista K., Jongbloed, Jan D.H., van der Hout, Annemieke H., Westers, Helga, Sinke, Richard J., Swertz, Morris A., Sijmons, Rolf H., Sikkema-Raddatz, Birgit
Published in Human mutation (01.05.2016)
Published in Human mutation (01.05.2016)
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Best Practice Guidelines for the Use of Next-Generation Sequencing Applications in Genome Diagnostics: A National Collaborative Study of Dutch Genome Diagnostic Laboratories
Weiss, Marjan M., Van der Zwaag, Bert, Jongbloed, Jan D. H., Vogel, Maartje J., Brüggenwirth, Hennie T., Lekanne Deprez, Ronald H., Mook, Olaf, Ruivenkamp, Claudia A. L., van Slegtenhorst, Marjon A., van den Wijngaard, Arthur, Waisfisz, Quinten, Nelen, Marcel R., van der Stoep, Nienke
Published in Human mutation (01.10.2013)
Published in Human mutation (01.10.2013)
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Correction to: The genetic architecture of Plakophilin 2 cardiomyopathy
Dries, Annika M., Kirillova, Anna, Reuter, Chloe M., Garcia, John, Zouk, Hana, Hawley, Megan, Murray, Brittney, Tichnell, Crystal, Pilichou, Kalliopi, Protonotarios, Alexandros, Medeiros-Domingo, Argelia, Kelly, Melissa A., Baras, Aris, Ingles, Jodie, Semsarian, Christopher, Bauce, Barbara, Celeghin, Rudy, Basso, Cristina, Jongbloed, Jan D.H., Nussbaum, Robert L., Funke, Birgit, Cerrone, Marina, Mestroni, Luisa, Taylor, Matthew R.G., Sinagra, Gianfranco, Merlo, Marco, Saguner, Ardan M., Elliott, Perry M., Syrris, Petros, van Tintelen, J. Peter, James, Cynthia A., Haggerty, Christopher M., Parikh, Victoria N.
Published in Genetics in medicine (01.10.2021)
Published in Genetics in medicine (01.10.2021)
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No major role for rare plectin variants in arrhythmogenic right ventricular cardiomyopathy
Hoorntje, Edgar T, Posafalvi, Anna, Syrris, Petros, van der Velde, K Joeri, Bolling, Marieke C, Protonotarios, Alexandros, Boven, Ludolf G, Amat-Codina, Nuria, Groeneweg, Judith A, Wilde, Arthur A, Sobreira, Nara, Calkins, Hugh, Hauer, Richard N W, Jonkman, Marcel F, McKenna, William J, Elliott, Perry M, Sinke, Richard J, van den Berg, Maarten P, Chelko, Stephen P, James, Cynthia A, van Tintelen, J Peter, Judge, Daniel P, Jongbloed, Jan D H
Published in PloS one (30.08.2018)
Published in PloS one (30.08.2018)
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Identification and Functional Characterization of Cardiac Troponin I As a Novel Disease Gene in Autosomal Dominant Dilated Cardiomyopathy
Carballo, Sebastian, Robinson, Paul, Otway, Robyn, Fatkin, Diane, Jongbloed, Jan D.H, de Jonge, Nicolaas, Blair, Edward, van Tintelen, J Peter, Redwood, Charles, Watkins, Hugh
Published in Circulation research (14.08.2009)
Published in Circulation research (14.08.2009)
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Isolated Subepicardial Right Ventricular Outflow Tract Scar in Athletes With Ventricular Tachycardia
Venlet, Jeroen, MD, Piers, Sebastiaan R.D., MD, PhD, Jongbloed, Jan D.H., PhD, Androulakis, Alexander F.A., MD, Naruse, Yoshihisa, MD, PhD, den Uijl, Dennis W., MD, PhD, Kapel, Gijsbert F.L., MD, de Riva, Marta, MD, van Tintelen, J. Peter, MD, PhD, Barge-Schaapveld, Daniela Q.C.M., MD, PhD, Schalij, Martin J., MD, PhD, Zeppenfeld, Katja, MD, PhD
Published in Journal of the American College of Cardiology (07.02.2017)
Published in Journal of the American College of Cardiology (07.02.2017)
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MYH7 p.(Arg1712Gln) is pathogenic founder variant causing hypertrophic cardiomyopathy with overall relatively delayed onset
Marsili, Luisa, van Lint, Freyja H. M., Russo, Francesco, van Spaendonck-Zwarts, Karin Y., Ader, Flavie, Bichon, Marie-Line, Faivre, Laurence, Houweling, Arjan C., Isidor, Bertrand, Lekanne Deprez, Ronald H., Cox, Moniek G. P. J., Wilde, Arthur A. M., Mazel, Benoit, Mercier, Sandra, Dooijes, Dennis, Millat, Gilles, Nguyen, Karine, Post, Jan G., Richard, Pascale, van de Beek, Irma, Vermeer, Alexa M. C., Boven, Ludolf, Jongbloed, Jan D. H., van Tintelen, J. Peter
Published in Netherlands heart journal (01.08.2023)
Published in Netherlands heart journal (01.08.2023)
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Homozygous damaging SOD2 variant causes lethal neonatal dilated cardiomyopathy
Almomani, Rowida, Herkert, Johanna C, Posafalvi, Anna, Post, Jan G, Boven, Ludolf G, van der Zwaag, Paul A, Willems, Peter H G M, van Veen-Hof, Ingrid H, Verhagen, Judith M A, Wessels, Marja W, Nikkels, Peter G J, Wintjes, Liesbeth T, van den Berg, Maarten P, Sinke, Richard J, Rodenburg, Richard J, Niezen-Koning, Klary E, van Tintelen, J Peter, Jongbloed, Jan D H
Published in Journal of medical genetics (01.01.2020)
Published in Journal of medical genetics (01.01.2020)
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Novel SPEG mutations in congenital myopathies: Genotype–phenotype correlations
Qualls, Anita E., Donkervoort, Sandra, Herkert, Johanna C., D'gama, Alissa M., Bharucha‐Goebel, Diana, Collins, James, Chao, Katherine R., Foley, A. Reghan, Schoots, Mirthe H., Jongbloed, Jan D.H., Bönnemann, Carsten G., Agrawal, Pankaj B.
Published in Muscle & nerve (01.03.2019)
Published in Muscle & nerve (01.03.2019)
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