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)
Get more information
Journal Article
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)
Get full text
Journal Article
Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen's Inherited Cardiomyopathy Expert Panel
Kelly, Melissa A, Caleshu, Colleen, Morales, Ana, Buchan, Jillian, Wolf, Zena, Harrison, Steven M, Cook, Stuart, Dillon, Mitchell W, Garcia, John, Haverfield, Eden, Jongbloed, Jan D H, Macaya, Daniela, Manrai, Arjun, Orland, Kate, Richard, Gabriele, Spoonamore, Katherine, Thomas, Matthew, Thomson, Kate, Vincent, Lisa M, Walsh, Roddy, Watkins, Hugh, Whiffin, Nicola, Ingles, Jodie, van Tintelen, J Peter, Semsarian, Christopher, Ware, James S, Hershberger, Ray, Funke, Birgit
Published in Genetics in medicine (01.03.2018)
Published in Genetics in medicine (01.03.2018)
Get full text
Journal Article
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)
Get full text
Journal Article
A new prediction model for ventricular arrhythmias in arrhythmogenic right ventricular cardiomyopathy
Cadrin-Tourigny, Julia, Bosman, Laurens P, Nozza, Anna, Wang, Weijia, Tadros, Rafik, Bhonsale, Aditya, Bourfiss, Mimount, Fortier, Annik, Lie, Øyvind H, Saguner, Ardan M, Svensson, Anneli, Andorin, Antoine, Tichnell, Crystal, Murray, Brittney, Zeppenfeld, Katja, van den Berg, Maarten P, Asselbergs, Folkert W, Wilde, Arthur A M, Krahn, Andrew D, Talajic, Mario, Rivard, Lena, Chelko, Stephen, Zimmerman, Stefan L, Kamel, Ihab R, Crosson, Jane E, Judge, Daniel P, Yap, Sing-Chien, van der Heijden, Jeroen F, Tandri, Harikrishna, Jongbloed, Jan D H, Guertin, Marie-Claude, van Tintelen, J Peter, Platonov, Pyotr G, Duru, Firat, Haugaa, Kristina H, Khairy, Paul, Hauer, Richard N W, Calkins, Hugh, te Riele, Anneline S J M, James, Cynthia A
Published in European heart journal (14.06.2019)
Published in European heart journal (14.06.2019)
Get full text
Journal Article
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)
Get full text
Journal Article
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)
Get full text
Journal Article
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)
Get full text
Journal Article
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)
Get full text
Journal Article
International Evidence Based Reappraisal of Genes Associated With Arrhythmogenic Right Ventricular Cardiomyopathy Using the Clinical Genome Resource Framework
James, Cynthia A, Jongbloed, Jan D H, Hershberger, Ray E, Morales, Ana, Judge, Daniel P, Syrris, Petros, Pilichou, Kalliopi, Domingo, Argelia Medeiros, Murray, Brittney, Cadrin-Tourigny, Julia, Lekanne Deprez, Ronald, Celeghin, Rudy, Protonotarios, Alexandros, Asatryan, Babken, Brown, Emily, Jordan, Elizabeth, McGlaughon, Jennifer, Thaxton, Courtney, Kurtz, C Lisa, van Tintelen, J Peter
Published in Circulation. Genomic and precision medicine (01.06.2021)
Published in Circulation. Genomic and precision medicine (01.06.2021)
Get more information
Journal Article
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)
Get full text
Journal Article
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)
Get full text
Journal Article
Truncating titin mutations are associated with a mild and treatable form of dilated cardiomyopathy
Jansweijer, Joeri A., Nieuwhof, Karin, Russo, Francesco, Hoorntje, Edgar T., Jongbloed, Jan D.H., Lekanne Deprez, Ronald H., Postma, Alex V., Bronk, Marieke, van Rijsingen, Ingrid A.W., de Haij, Simone, Biagini, Elena, van Haelst, Paul L., van Wijngaarden, Jan, van den Berg, Maarten P., Wilde, Arthur A.M., Mannens, Marcel M.A.M., de Boer, Rudolf A., van Spaendonck‐Zwarts, Karin Y., van Tintelen, J. Peter, Pinto, Yigal M.
Published in European journal of heart failure (01.04.2017)
Published in European journal of heart failure (01.04.2017)
Get full text
Journal Article
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)
Get full text
Journal Article
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)
Get full text
Journal Article
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)
Get full text
Journal Article
Sudden Cardiac Death Prediction in Arrhythmogenic Right Ventricular Cardiomyopathy: A Multinational Collaboration
Cadrin-Tourigny, Julia, Bosman, Laurens P, Wang, Weijia, Tadros, Rafik, Bhonsale, Aditya, Bourfiss, Mimount, Lie, Øyvind H, Saguner, Ardan M, Svensson, Anneli, Andorin, Antoine, Tichnell, Crystal, Murray, Brittney, Zeppenfeld, Katja, van den Berg, Maarten P, Asselbergs, Folkert W, Wilde, Arthur A M, Krahn, Andrew D, Talajic, Mario, Rivard, Lena, Chelko, Stephen, Zimmerman, Stefan L, Kamel, Ihab R, Crosson, Jane E, Judge, Daniel P, Yap, Sing-Chien, Van der Heijden, Jeroen F, Tandri, Harikrishna, Jongbloed, Jan D H, van Tintelen, J Peter, Platonov, Pyotr G, Duru, Firat, Haugaa, Kristina H, Khairy, Paul, Hauer, Richard N W, Calkins, Hugh, Te Riele, Anneline S J M, James, Cynthia A
Published in Circulation. Arrhythmia and electrophysiology (01.01.2021)
Published in Circulation. Arrhythmia and electrophysiology (01.01.2021)
Get full text
Journal Article
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)
Get full text
Journal Article
Mutations in CYB561 Causing a Novel Orthostatic Hypotension Syndrome
van den Berg, Maarten P, Almomani, Rowida, Biaggioni, Italo, van Faassen, Martijn, van der Harst, Pim, Silljé, Herman H.W, Mateo Leach, Irene, Hemmelder, Marc H, Navis, Gerjan, Luijckx, Gert Jan, de Brouwer, Arjan P.M, Venselaar, Hanka, Verbeek, Marcel M, van der Zwaag, Paul A, Jongbloed, Jan D.H, van Tintelen, J Peter, Wevers, Ron A, Kema, Ido P
Published in Circulation research (16.03.2018)
Published in Circulation research (16.03.2018)
Get full text
Journal Article
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)
Get full text
Journal Article