Genetic variant in the BRAF gene compatible with Noonan spectrum disorders in an adult Fontan patient with refractory protein losing enteropathy: a follow-up report

por Nederend, Marieke, Stoger, J Lauran, Egorova, Anastasia D, Barge-Schaapveld, Daniela Q C M, Jongbloed, Monique R M
Publicado 2023

Characterization of Degenerative Mitral Valve Disease: Differences between Fibroelastic Deficiency and Barlow’s Disease

por van Wijngaarden, Aniek L., Kruithof, Boudewijn P. T., Vinella, Tommaso, Barge-Schaapveld, Daniela Q. C. M., Ajmone Marsan, Nina
Publicado 2021

Autosomal dominant Marfan syndrome caused by a previously reported recessive FBN1 variant

por Overwater, Eline, Efrat, Rifka, Barge‐Schaapveld, Daniela Q. C. M., Lakeman, Phillis, Weiss, Marjan M., Maugeri, Alessandra, van Tintelen, J. Peter, Houweling, Arjan C.
Publicado 2018

Pathogenic effect of a TGFBR1 mutation in a family with Loeys–Dietz syndrome

por Cozijnsen, Luc, Plomp, Astrid S., Post, Jan G., Pals, Gerard, Bogunovic, Natalija, Yeung, Kak K., Niessen, Hans W. M., Goumans, Marie‐José T. H., Barge‐Schaapveld, Daniela Q. C. M., Micha, Dimitra
Publicado 2019

Case report: challenges in monitoring and treatment of anthracycline induced cardiotoxicity in young adults with osteosarcoma

por Heemelaar, Julius C., Janson, Jeroen, Braun, Jerry, Speetjens, Frank M., van de Sande, Michiel A. J., Hugo, Juan D. V., Barge-Schaapveld, Daniela Q. C. M., Beeres, Saskia L. M. A., Tops, Laurens F., Gelderblom, Hans, Antoni, M. Louisa
Publicado 2022

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

Distinct Metabolomic Signatures in Preclinical and Obstructive Hypertrophic Cardiomyopathy

por Schuldt, Maike, van Driel, Beau, Algül, Sila, Parbhudayal, Rahana Y., Barge-Schaapveld, Daniela Q. C. M., Güçlü, Ahmet, Jansen, Mark, Michels, Michelle, Baas, Annette F., van de Wiel, Mark A., Nieuwdorp, Max, Levin, Evgeni, Germans, Tjeerd, Jans, Judith J. M., van der Velden, Jolanda
Publicado 2021

GATA6 mutations: Characterization of two novel patients and a comprehensive overview of the GATA6 genotypic and phenotypic spectrum

por Škorić‐Milosavljević, Doris, Tjong, Fleur V. Y., Barc, Julien, Backx, Ad P. C. M., Clur, Sally‐Ann B., van Spaendonck‐Zwarts, Karin, Oostra, Roelof‐Jan, Lahrouchi, Najim, Beekman, Leander, Bökenkamp, Regina, Barge‐Schaapveld, Daniela Q. C. M., Mulder, Barbara J., Lodder, Elisabeth M., Bezzina, Connie R., Postma, Alex V.
Publicado 2019

Reclassification of a likely pathogenic Dutch founder variant in KCNH2; implications of reduced penetrance

por Copier, Jaël S, Bootsma, Marianne, Ng, Chai A, Wilde, Arthur A M, Bertels, Robin A, Bikker, Hennie, Christiaans, Imke, van der Crabben, Saskia N, Hol, Janna A, Koopmann, Tamara T, Knijnenburg, Jeroen, Lommerse, Aafke A J, van der Smagt, Jasper J, Bezzina, Connie R, Vandenberg, Jamie I, Verkerk, Arie O, Barge-Schaapveld, Daniela Q C M, Lodder, Elisabeth M
Publicado 2022

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

Genetic Burden of TNNI3K in Diagnostic Testing of Patients With Dilated Cardiomyopathy and Supraventricular Arrhythmias

por Pham, Caroline, Andrzejczyk, Karolina, Jurgens, Sean J., Lekanne Deprez, Ronald, Palm, Kaylin C.A., Vermeer, Alexa M.C., Nijman, Janneke, Christiaans, Imke, Barge-Schaapveld, Daniela Q.C.M., van Dessel, Pascal F.H.M., Beekman, Leander, Choi, Seung Hoan, Lubitz, Steven A., Skoric-Milosavljevic, Doris, van den Bersselaar, Lisa, Jansen, Philip R., Copier, Jaël S., Ellinor, Patrick T., Wilde, Arthur A.M., Bezzina, Connie R., Lodder, Elisabeth M.
Publicado 2023

The arrhythmogenic cardiomyopathy phenotype associated with PKP2 c.1211dup variant

por Bos, Thomas A., Piers, Sebastiaan R. D., Wessels, Marja W., Houweling, Arjan C., Bökenkamp, Regina, Bootsma, Marianne, Bosman, Laurens P., Evertz, Reinder, Hellebrekers, Debby M. E. I., Hoedemaekers, Yvonne M., Knijnenburg, Jeroen, Lekanne Deprez, Ronald, van Mil, Anneke M., te Riele, Anneline S. J. M., van Slegtenhorst, Marjon A., Wilde, Arthur A. M., Yap, Sing-Chien, Dooijes, Dennis, Koopmann, Tamara T., van Tintelen, J. Peter, Barge-Schaapveld, Daniela Q. C. M.
Publicado 2023

The genetic basis of apparently idiopathic ventricular fibrillation: a retrospective overview

por Verheul, Lisa M, van der Ree, Martijn H, Groeneveld, Sanne A, Mulder, Bart A, Christiaans, Imke, Kapel, Gijs F L, Alings, Marco, Bootsma, Marianne, Barge-Schaapveld, Daniela Q C M, Balt, Jippe C, Yap, Sing-Chien, Krapels, Ingrid P C, Ter Bekke, Rachel M A, Volders, Paul G A, van der Crabben, Saskia N, Postema, Pieter G, Wilde, Arthur A M, Dooijes, Dennis, Baas, Annette F, Hassink, Rutger J
Publicado 2023

Genetic Evaluation of A Nation-Wide Dutch Pediatric DCM Cohort: The Use of Genetic Testing in Risk Stratification

por van der Meulen, Marijke H., Herkert, Johanna C., den Boer, Susanna L., du Marchie Sarvaas, Gideon J., Blom, Nico A., ten Harkel, Arend D.J., Breur, Hans M.P.J., Rammeloo, Lukas A.J., Tanke, Ronald B., Marcelis, Carlo, van de Laar, Ingrid M.B.H., Verhagen, Judith M.A., Lekanne dit Deprez, Ronald H., Barge-Schaapveld, Daniela Q.C.M., Baas, Annette F., Sammani, Arjan, Christiaans, Imke, van Tintelen, J. Peter, Dalinghaus, Michiel
Publicado 2022

A mutation update for the FLNC gene in myopathies and cardiomyopathies

por Verdonschot, Job A. J., Vanhoutte, Els K., Claes, Godelieve R. F., Helderman‐van den Enden, Apollonia T. J. M., Hoeijmakers, Janneke G. J., Hellebrekers, Debby M. E. I., de Haan, Amber, Christiaans, Imke, Lekanne Deprez, Ronald H., Boen, Hanne M., van Craenenbroeck, Emeline M., Loeys, Bart L., Hoedemaekers, Yvonne M., Marcelis, Carlo, Kempers, Marlies, Brusse, Esther, van Waning, Jaap I., Baas, Annette F., Dooijes, Dennis, Asselbergs, Folkert W., Barge‐Schaapveld, Daniela Q. C. M., Koopman, Pieter, van den Wijngaard, Arthur, Heymans, Stephane R. B., Krapels, Ingrid P. C., Brunner, Han G.
Publicado 2020

Variant Location Is a Novel Risk Factor for Individuals With Arrhythmogenic Cardiomyopathy Due to a Desmoplakin (DSP) Truncating Variant

por Hoorntje, Edgar T., Burns, Charlotte, Marsili, Luisa, Corden, Ben, Parikh, Victoria N., te Meerman, Gerard J., Gray, Belinda, Adiyaman, Ahmet, Bagnall, Richard D., Barge-Schaapveld, Daniela Q.C.M., van den Berg, Maarten P., Bootsma, Marianne, Bosman, Laurens P., Correnti, Gemma, Duflou, Johan, Eppinga, Ruben N., Fatkin, Diane, Fietz, Michael, Haan, Eric, Jongbloed, Jan D.H., Hauer, Arnaud D., Lam, Lien, van Lint, Freyja H.M., Lota, Amrit, Marcelis, Carlo, McCarthy, Hugh J., van Mil, Anneke M., Oldenburg, Rogier A., Pachter, Nicholas, Planken, R. Nils, Reuter, Chloe, Semsarian, Christopher, van der Smagt, Jasper J., Thompson, Tina, Vohra, Jitendra, Volders, Paul G.A., van Waning, Jaap I., Whiffin, Nicola, van den Wijngaard, Arthur, Amin, Ahmad S., Wilde, Arthur A.M., van Woerden, Gijs, Yeates, Laura, Zentner, Dominica, Ashley, Euan A., Wheeler, Matthew T., Ware, James S., van Tintelen, J. Peter, Ingles, Jodie
Publicado 2022

Common Genetic Variants Contribute to Risk of Transposition of the Great Arteries

por Škorić-Milosavljević, Doris, Tadros, Rafik, Bosada, Fernanda M., Tessadori, Federico, van Weerd, Jan Hendrik, Woudstra, Odilia I., Tjong, Fleur V.Y., Lahrouchi, Najim, Bajolle, Fanny, Cordell, Heather J., Agopian, A.J., Blue, Gillian M., Barge-Schaapveld, Daniela Q.C.M., Gewillig, Marc, Preuss, Christoph, Lodder, Elisabeth M., Barnett, Phil, Ilgun, Aho, Beekman, Leander, van Duijvenboden, Karel, Bokenkamp, Regina, Müller-Nurasyid, Martina, Vliegen, Hubert W., Konings, Thelma C., van Melle, Joost P., van Dijk, Arie P.J., van Kimmenade, Roland R.J., Roos-Hesselink, Jolien W., Sieswerda, Gertjan T., Meijboom, Folkert, Abdul-Khaliq, Hashim, Berger, Felix, Dittrich, Sven, Hitz, Marc-Phillip, Moosmann, Julia, Riede, Frank-Thomas, Schubert, Stephan, Galan, Pilar, Lathrop, Mark, Munter, Hans M., Al-Chalabi, Ammar, Shaw, Christopher E., Shaw, Pamela J., Morrison, Karen E., Veldink, Jan H., van den Berg, Leonard H., Evans, Sylvia, Nobrega, Marcelo A., Aneas, Ivy, Radivojkov-Blagojević, Milena, Meitinger, Thomas, Oechslin, Erwin, Mondal, Tapas, Bergin, Lynn, Smythe, John F., Altamirano-Diaz, Luis, Lougheed, Jane, Bouma, Berto J., Chaix, Marie-A., Kline, Jennie, Bassett, Anne S., Andelfinger, Gregor, van der Palen, Roel L.F., Bouvagnet, Patrice, Clur, Sally-Ann B., Breckpot, Jeroen, Kerstjens-Frederikse, Wilhelmina S., Winlaw, David S., Bauer, Ulrike M.M., Mital, Seema, Goldmuntz, Elizabeth, Keavney, Bernard, Bonnet, Damien, Mulder, Barbara J., Tanck, Michael W.T., Bakkers, Jeroen, Christoffels, Vincent M., Boogerd, Cornelis J., Postma, Alex V., Bezzina, Connie R.
Publicado 2021

Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome

por Weerts, Marjolein J. A., Lanko, Kristina, Guzmán-Vega, Francisco J., Jackson, Adam, Ramakrishnan, Reshmi, Cardona-Londoño, Kelly J., Peña-Guerra, Karla A., van Bever, Yolande, van Paassen, Barbara W., Kievit, Anneke, van Slegtenhorst, Marjon, Allen, Nicholas M., Kehoe, Caroline M., Robinson, Hannah K., Pang, Lewis, Banu, Selina H., Zaman, Mashaya, Efthymiou, Stephanie, Houlden, Henry, Järvelä, Irma, Lauronen, Leena, Määttä, Tuomo, Schrauwen, Isabelle, Leal, Suzanne M., Ruivenkamp, Claudia A. L., Barge-Schaapveld, Daniela Q.C.M., Peeters-Scholte, Cacha M. P. C. D., Galehdari, Hamid, Mazaheri, Neda, Sisodiya, Sanjay M., Harrison, Victoria, Sun, Angela, Thies, Jenny, Pedroza, Luis Alberto, Lara-Taranchenko, Yana, Chinn, Ivan K., Lupski, James R., Garza-Flores, Alexandra, McGlothlin, Jeffery, Yang, Lin, Huang, Shaoping, Wang, Xiaodong, Jewett, Tamison, Rosso, Gretchen, Lin, Xi, Mohammed, Shehla, Merritt, J. Lawrence, Mirzaa, Ghayda M., Timms, Andrew E., Scheck, Joshua, Elting, Mariet W., Polstra, Abeltje M., Schenck, Lauren, Ruzhnikov, Maura R. Z., Vetro, Annalisa, Montomoli, Martino, Guerrini, Renzo, Koboldt, Daniel C., Mosher, Theresa Mihalic, Pastore, Matthew T., McBride, Kim L., Peng, Jing, Pan, Zou, Willemsen, Marjolein, Koning, Susanne, Turnpenny, Peter D., de Vries, Bert B. A., Gilissen, Christian, Pfundt, Rolph, Lees, Melissa, Braddock, Stephen R., Klemp, Kara C., Vansenne, Fleur, van Gijn, Marielle E., Quindipan, Catherine, Deardorff, Matthew A., Hamm, J. Austin, Putnam, Abbey M., Baud, Rebecca, Walsh, Laurence, Lynch, Sally A., Baptista, Julia, Person, Richard E., Monaghan, Kristin G., Crunk, Amy, Keller-Ramey, Jennifer, Reich, Adi, Elloumi, Houda Zghal, Alders, Marielle, Kerkhof, Jennifer, McConkey, Haley, Haghshenas, Sadegheh, Maroofian, Reza, Sadikovic, Bekim, Banka, Siddharth, Arold, Stefan T., Barakat, Tahsin Stefan
Publicado 2021