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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Reduced kinase function in two ultra‐rare TNNI3K variants in families with congenital junctional ectopic tachycardia
Pham, Caroline, Koopmann, Tamara T., Vinocur, Jeffrey M., Blom, Nico A., Nogueira Silbiger, Vivian, Mittal, Kirti, Bootsma, Marianne, Palm, Kaylin C. A., Clur, Sally‐Ann B., Barge‐Schaapveld, Daniela Q. C. M., Hamilton, Robert M., Lodder, Elisabeth M.
Published in Clinical genetics (01.07.2024)
Published in Clinical genetics (01.07.2024)
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A mutation update for the FLNC gene in myopathies and cardiomyopathies
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., Haan, Amber, Christiaans, Imke, Lekanne Deprez, Ronald H., Boen, Hanne M., Craenenbroeck, Emeline M., Loeys, Bart L., Hoedemaekers, Yvonne M., Marcelis, Carlo, Kempers, Marlies, Brusse, Esther, Waning, Jaap I., Baas, Annette F., Dooijes, Dennis, Asselbergs, Folkert W., Barge‐Schaapveld, Daniela Q. C. M., Koopman, Pieter, Wijngaard, Arthur, Heymans, Stephane R. B., Krapels, Ingrid P. C., Brunner, Han G.
Published in Human mutation (01.06.2020)
Published in Human mutation (01.06.2020)
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Consolidation of the clinical and genetic definition of a SOX4-related neurodevelopmental syndrome
Angelozzi, Marco, Karvande, Anirudha, Molin, Arnaud N, Ritter, Alyssa L, Leonard, Jacqueline M M, Savatt, Juliann M, Douglass, Kristen, Myers, Scott M, Grippa, Mina, Tolchin, Dara, Zackai, Elaine, Donoghue, Sarah, Hurst, Anna C E, Descartes, Maria, Smith, Kirstin, Velasco, Danita, Schmanski, Andrew, Crunk, Amy, Tokita, Mari J, de Lange, Iris M, van Gassen, Koen, Robinson, Hannah, Guegan, Katie, Suri, Mohnish, Patel, Chirag, Bournez, Marie, Faivre, Laurence, Tran-Mau-Them, Frédéric, Baker, Janice, Fabie, Noelle, Weaver, K, Shillington, Amelle, Hopkin, Robert J, Barge-Schaapveld, Daniela Q C.M, Ruivenkamp, Claudia AL, Bökenkamp, Regina, Vergano, Samantha, Seco Moro, Maria Noelia, Díaz de Bustamante, Aranzazu, Misra, Vinod K, Kennelly, Kelly, Rogers, Caleb, Friedman, Jennifer, Wigby, Kristen M, Lenberg, Jerica, Graziano, Claudio, Ahrens-Nicklas, Rebecca C, Lefebvre, Veronique
Published in Journal of medical genetics (01.11.2022)
Published in Journal of medical genetics (01.11.2022)
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Identification of known and unknown genes associated with mitral valve prolapse using an exome slice methodology
van Wijngaarden, Aniek L, Hiemstra, Yasmine L, Koopmann, Tamara T, Ruivenkamp, Claudia A L, Aten, Emmelien, Schalij, Martin J, Bax, Jeroen J, Delgado, Victoria, Barge-Schaapveld, Daniela Q C M, Ajmone Marsan, Nina
Published in Journal of medical genetics (01.12.2020)
Published in Journal of medical genetics (01.12.2020)
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Germline variant affecting p53β isoforms predisposes to familial cancer
Schubert, Stephanie A, Ruano, Dina, Joruiz, Sebastien M, Stroosma, Jordy, Glavak, Nikolina, Montali, Anna, Pinto, Lia M, Rodríguez-Girondo, Mar, Barge-Schaapveld, Daniela Q. C. M, Nielsen, Maartje, van Nesselrooij, Bernadette P. M, Mensenkamp, Arjen R, van Leerdam, Monique E, Sharp, Thomas H, Morreau, Hans, Bourdon, Jean-Christophe, de Miranda, Noel F. C. C, van Wezel, Tom
Published in Nature communications (18.09.2024)
Published in Nature communications (18.09.2024)
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Toward an effective exome-based genetic testing strategy in pediatric dilated cardiomyopathy
Herkert, Johanna C, Abbott, Kristin M, Birnie, Erwin, Meems-Veldhuis, Martine T, Boven, Ludolf G, Benjamins, Marloes, du Marchie Sarvaas, Gideon J, Barge-Schaapveld, Daniela Q C M, van Tintelen, J Peter, van der Zwaag, Paul A, Vos, Yvonne J, Sinke, Richard J, van den Berg, Maarten P, van Langen, Irene M, Jongbloed, Jan D H
Published in Genetics in medicine (01.11.2018)
Published in Genetics in medicine (01.11.2018)
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Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome
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, 2nd, 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
Published in Genetics in medicine (01.11.2021)
Published in Genetics in medicine (01.11.2021)
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GATA6 mutations: Characterization of two novel patients and a comprehensive overview of the GATA6 genotypic and phenotypic spectrum
Škorić‐Milosavljević, Doris, Tjong, Fleur V. Y., Barc, Julien, Backx, Ad P. C. M., Clur, Sally‐Ann B., 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.
Published in American journal of medical genetics. Part A (01.09.2019)
Published in American journal of medical genetics. Part A (01.09.2019)
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Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders
Stolz, Jacob R., Foote, Kendall M., Veenstra-Knol, Hermine E., Pfundt, Rolph, ten Broeke, Sanne W., de Leeuw, Nicole, Roht, Laura, Pajusalu, Sander, Part, Reelika, Rebane, Ionella, Õunap, Katrin, Stark, Zornitza, Kirk, Edwin P., Lawson, John A., Lunke, Sebastian, Christodoulou, John, Louie, Raymond J., Rogers, R. Curtis, Davis, Jessica M., Innes, A. Micheil, Wei, Xing-Chang, Keren, Boris, Mignot, Cyril, Lebel, Robert Roger, Sperber, Steven M., Sakonju, Ai, Dosa, Nienke, Barge-Schaapveld, Daniela Q.C.M., Peeters-Scholte, Cacha M.P.C.D., Ruivenkamp, Claudia A.L., van Bon, Bregje W., Kennedy, Joanna, Low, Karen J., Ellard, Sian, Pang, Lewis, Junewick, Joseph J., Mark, Paul R., Carvill, Gemma L., Swanson, Geoffrey T.
Published in American journal of human genetics (02.09.2021)
Published in American journal of human genetics (02.09.2021)
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Expanding the clinical and genetic spectrum of ALPK3 variants: Phenotypes identified in pediatric cardiomyopathy patients and adults with heterozygous variants
Herkert, Johanna C., Verhagen, Judith M.A., Yotti, Raquel, Haghighi, Alireza, Phelan, Dean G., James, Paul A., Brown, Natasha J., Stutterd, Chloe, Macciocca, Ivan, Leong, Kai'En, Bulthuis, Marian L.C., van Bever, Yolande, van Slegtenhorst, Marjon A., Boven, Ludolf G., Roberts, Amy E., Agarwal, Radhika, Seidman, Jonathan, Lakdawala, Neal K., Fernández-Avilés, Francisco, Burke, Michael A., Pierpont, Mary Ella, Braunlin, Elizabeth, Ḉağlayan, Ahmet Okay, Barge-Schaapveld, Daniela Q.C.M., Birnie, Erwin, van Osch-Gevers, Lennie, van Langen, Irene M., Jongbloed, Jan D.H., Lockhart, Paul J., Amor, David J., Seidman, Christine E., van de Laar, Ingrid M.B.H.
Published in The American heart journal (01.07.2020)
Published in The American heart journal (01.07.2020)
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Reclassification of a likely pathogenic Dutch founder variant in KCNH2; implications of reduced penetrance
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
Published in Human molecular genetics (20.03.2023)
Published in Human molecular genetics (20.03.2023)
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Characterization of Degenerative Mitral Valve Disease: Differences between Fibroelastic Deficiency and Barlow's Disease
van Wijngaarden, Aniek L, Kruithof, Boudewijn P T, Vinella, Tommaso, Barge-Schaapveld, Daniela Q C M, Ajmone Marsan, Nina
Published in Journal of cardiovascular development and disease (22.02.2021)
Published in Journal of cardiovascular development and disease (22.02.2021)
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Expanding the genetic and phenotypic spectrum of ACTA2-related vasculopathies in a Dutch cohort
van den Bersselaar, Lisa M., Verhagen, Judith M.A., Bekkers, Jos A., Kempers, Marlies, Houweling, Arjan C., Baars, Marieke, Overwater, Eline, Hilhorst-Hofstee, Yvonne, Barge-Schaapveld, Daniela Q.C.M., Rompen, Eline, Krapels, Ingrid P.C., Dulfer, Eelco, Wessels, Marja W., Loeys, Bart L., Verhagen, Hence J.M., Maugeri, Alessandra, Roos-Hesselink, Jolien W., Brüggenwirth, Hennie T., van de Laar, Ingrid M.B.H.
Published in Genetics in medicine (01.02.2024)
Published in Genetics in medicine (01.02.2024)
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The genetic basis of apparently idiopathic ventricular fibrillation: a retrospective overview
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
Published in Europace (London, England) (02.11.2023)
Published in Europace (London, England) (02.11.2023)
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Lessons from a lethal prolongation
Buiten, Maurits S, Egorova, Anastasia D, Barge-Schaapveld, Daniela Q C M, Piers, Sebastiaan R D
Published in European heart journal : case reports (01.04.2024)
Published in European heart journal : case reports (01.04.2024)
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Journal Article
The first titin (c.59926 + 1G > A) founder mutation associated with dilated cardiomyopathy
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
Published in European journal of heart failure (01.04.2018)
Published in European journal of heart failure (01.04.2018)
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Familial occurrence of mitral regurgitation in patients with mitral valve prolapse undergoing mitral valve surgery
Hiemstra, Yasmine L, Wijngaarden, Aniek L van, Bos, Mathilde W, Schalij, Martin J, Klautz, Robert JM, Bax, Jeroen J, Delgado, Victoria, Barge-Schaapveld, Daniela QCM, Marsan, Nina Ajmone
Published in European journal of preventive cardiology (01.02.2020)
Published in European journal of preventive cardiology (01.02.2020)
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