Three female patients with Danon disease presenting with predominant cardiac phenotype: a case series

por Mulder, Bart A, Hoedemaekers, Yvonne M, van den Berg, Maarten P, van Loon, Rosa L E, Wind, Anna M, Jongbloed, Jan D H, Wiesfeld, Ans C P
Publicado 2019

Validation of New Gene Variant Classification Methods: a Field-Test in Diagnostic Cardiogenetics

por Alimohamed, Mohamed Z., Westers, Helga, Vos, Yvonne J., Van der Velde, K. Joeri, Sijmons, Rolf H., Van der Zwaag, Paul A., Sikkema-Raddatz, Birgit, Jongbloed, Jan D. H.
Publicado 2022

Potential genetic predisposition for anthracycline-associated cardiomyopathy in families with dilated cardiomyopathy

por Wasielewski, Marijke, van Spaendonck-Zwarts, Karin Y, Westerink, Nico-Derk L, Jongbloed, Jan D H, Postma, Aleida, Gietema, Jourik A, van Tintelen, J Peter, van den Berg, Maarten P
Publicado 2014

Functional investigation of two simultaneous or separately segregating DSP variants within a single family supports the theory of a dose‐dependent disease severity

por Vermeer, Mathilde C. S. C., Andrei, Daniela, Kramer, Duco, Nijenhuis, Albertine M., Hoedemaekers, Yvonne M., Westers, Helga, Jongbloed, Jan D. H., Pas, Hendri H., van den Berg, Maarten P., Silljé, Herman H. W., van der Meer, Peter, Bolling, Maria C.
Publicado 2022

Relevance of Titin Missense and Non-Frameshifting Insertions/Deletions Variants in Dilated Cardiomyopathy

por 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, van Tintelen, J. Peter, van der Zwaag, Paul A., Koskenvuo, Juha
Publicado 2019

Publisher Correction: Relevance of Titin Missense and Non-Frameshifting Insertions/Deletions Variants in Dilated Cardiomyopathy

por 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, van Spaendonck-Zwarts, Karin, van Tintelen, J. Peter, van der Zwaag, Paul A., Koskenvuo, Juha
Publicado 2020

Case series, chemotherapy-induced cardiomyopathy: mind the family history!

por Moghadasi, Setareh, Fijn, Rienke, Beeres, Saskia L M A, Bikker, Hennie, Jongbloed, Jan D H, Josephus Jitta, Djike, Kroep, Judith R, Lekanne Deprez, Ronald H, Vos, Yvonne J, de Vreede, Mariëlle J M, Antoni, M Louisa, Barge-Schaapveld, Daniela Q C M
Publicado 2021

Evaluation of CADD Scores in Curated Mismatch Repair Gene Variants Yields a Model for Clinical Validation and Prioritization

por van der Velde, K. Joeri, Kuiper, Joël, Thompson, Bryony A., Plazzer, John‐Paul, van Valkenhoef, Gert, de Haan, Mark, Jongbloed, Jan D.H., Wijmenga, Cisca, de Koning, Tom J., Abbott, Kristin M., Sinke, Richard, Spurdle, Amanda B., Macrae, Finlay, Genuardi, Maurizio, Sijmons, Rolf H., Swertz, Morris A.
Publicado 2015

Identification of sarcomeric variants in probands with a clinical diagnosis of arrhythmogenic right ventricular cardiomyopathy (ARVC)

por Murray, Brittney, Hoorntje, Edgar T., te Riele, Anneline S. J. M., Tichnell, Crystal, van der Heijden, Jeroen F., Tandri, Harikrishna, van den Berg, Maarten P., Jongbloed, Jan D. H., Wilde, Arthur A. M., Hauer, Richard N. W., Calkins, Hugh, Judge, Daniel P., James, Cynthia A., van Tintelen, J. Peter, Dooijes, Dennis
Publicado 2018

International Evidence Based Reappraisal of Genes Associated With Arrhythmogenic Right Ventricular Cardiomyopathy Using the Clinical Genome Resource Framework

por 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
Publicado 2021

Goldberg–Shprintzen syndrome is determined by the absence, or reduced expression levels, of KIFBP

por MacKenzie, Katherine C., de Graaf, Bianca M., Syrimis, Andreas, Zhao, Yuying, Brosens, Erwin, Mancini, Grazia M. S., Schot, Rachel, Halley, Dicky, Wilke, Martina, Vøllo, Arve, Flinter, Frances, Green, Andrew, Mansour, Sahar, Pilch, Jacek, Stark, Zornitza, Zamba‐Papanicolaou, Eleni, Christophidou‐Anastasiadou, Violetta, Hofstra, Robert M. W., Jongbloed, Jan D. H., Nicolaou, Nayia, Tanteles, George A., Brooks, Alice S., Alves, Maria M.
Publicado 2020

The first titin (c.59926 + 1G > A) founder mutation associated with dilated cardiomyopathy

por Hoorntje, Edgar T., van Spaendonck‐Zwarts, Karin Y., te Rijdt, Wouter P., Boven, Ludolf, Vink, Aryan, van der Smagt, Jasper J., Asselbergs, Folkert W., van Wijngaarden, Jan, Hennekam, Eric A., Pinto, Yigal M., Lekanne Deprez, Ronald H., Barge‐Schaapveld, Daniela Q.C.M., Bootsma, Marianne, Regieli, Jakub, Hoedemaekers, Yvonne M., Jongbloed, Jan D.H., van den Berg, Maarten P., van Tintelen, J. Peter
Publicado 2017

Untargeted Metabolomics Identifies Potential Hypertrophic Cardiomyopathy Biomarkers in Carriers of MYBPC3 Founder Variants

por Jansen, Mark, Schuldt, Maike, van Driel, Beau O., Schmidt, Amand F., Christiaans, Imke, van der Crabben, Saskia N., Hoedemaekers, Yvonne M., Dooijes, Dennis, Jongbloed, Jan D. H., Boven, Ludolf G., Deprez, Ronald H. Lekanne, Wilde, Arthur A. M., Jans, Judith J. M., van der Velden, Jolanda, de Boer, Rudolf A., van Tintelen, J. Peter, Asselbergs, Folkert W., Baas, Annette F.
Publicado 2023

Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen’s Inherited Cardiomyopathy Exp...

por 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
Publicado 2018

No major role for rare plectin variants in arrhythmogenic right ventricular cardiomyopathy

por 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.
Publicado 2018

MYH7 p.(Arg1712Gln) is pathogenic founder variant causing hypertrophic cardiomyopathy with overall relatively delayed onset

por 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
Publicado 2023

Lack of evidence for a causal role of CALR3 in monogenic cardiomyopathy

por Verhagen, Judith M. A., Veldman, Job H., van der Zwaag, Paul A., von der Thüsen, Jan H., Brosens, Erwin, Christiaans, Imke, Dooijes, Dennis, Helderman-van den Enden, Apollonia T. J. M., Lekanne Deprez, Ronald H., Michels, Michelle, van Mil, Anneke M., Oldenburg, Rogier A., van der Smagt, Jasper J., van den Wijngaard, Arthur, Wessels, Marja W., Hofstra, Robert M. W., van Slegtenhorst, Marjon A., Jongbloed, Jan D. H., van de Laar, Ingrid M. B. H.
Publicado 2018

KBTBD13 is a novel cardiomyopathy gene

por de Winter, Josine M., Bouman, Karlijn, Strom, Joshua, Methawasin, Mei, Jongbloed, Jan D. H., van der Roest, Wilma, van Wijngaarden, Jan, Timmermans, Janneke, Nijveldt, Robin, van den Heuvel, Frederik, Kamsteeg, Erik‐Jan, van Engelen, Baziel G., Galli, Ricardo, Bogaards, Sylvia J. P., Boon, Reinier A., van der Pijl, Robbert J., Granzier, Henk, Koeleman, Bobby, Amin, Ahmad S., van der Velden, Jolanda, van Tintelen, J. Peter, van den Berg, Maarten P., van Spaendonck‐Zwarts, Karin Y., Voermans, Nicol C., Ottenheijm, Coen A. C.
Publicado 2022

Correction to: The genetic architecture of Plakophilin 2 cardiomyopathy

por 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.
Publicado 2021

The genetic architecture of Plakophilin 2 cardiomyopathy

por 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.
Publicado 2021