Phenotypic clustering of dilated cardiomyopathy patients highlights important pathophysiological differences
Verdonschot, Job A J, Merlo, Marco, Dominguez, Fernando, Wang, Ping, Henkens, Michiel T H M, Adriaens, Michiel E, Hazebroek, Mark R, Masè, Marco, Escobar, Luis E, Cobas-Paz, Rafael, Derks, Kasper W J, van den Wijngaard, Arthur, Krapels, Ingrid P C, Brunner, Han G, Sinagra, Gianfranco, Garcia-Pavia, Pablo, Heymans, Stephane R B
Published in European heart journal (07.01.2021)
Published in European heart journal (07.01.2021)
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Mutations in PDLIM5 are rare in dilated cardiomyopathy but are emerging as potential disease modifiers
Verdonschot, Job A. J., Robinson, Emma L., James, Kiely N., Mohamed, Mohamed W., Claes, Godelieve R. F., Casas, Kari, Vanhoutte, Els K., Hazebroek, Mark R., Kringlen, Gabriel, Pasierb, Michele M., Wijngaard, Arthur, Glatz, Jan F. C., Heymans, Stephane R. B., Krapels, Ingrid P. C., Nahas, Shareef, Brunner, Han G., Szklarczyk, Radek
Published in Molecular genetics & genomic medicine (01.02.2020)
Published in Molecular genetics & genomic medicine (01.02.2020)
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MSX1 allele 4 homozygous child exposed to smoking at periconception is most sensitive in developing nonsyndromic orofacial clefts
van den Boogaard, Marie-José H, de Costa, Dominique, Krapels, Ingrid P. C, Liu, Fan, van Duijn, Cock, Sinke, Richard J, Lindhout, Dick, Steegers-Theunissen, Régine P. M
Published in Human genetics (01.12.2008)
Published in Human genetics (01.12.2008)
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Clinical impact of re-evaluating genes and variants implicated in dilated cardiomyopathy
Stroeks, Sophie L. V. M., Hellebrekers, Debby M. E. I., Claes, Godelieve R. F., Tayal, Upasana, Krapels, Ingrid P. C., Vanhoutte, Els K., van den Wijngaard, Arthur, Henkens, Michiel T. H. M., Ware, James S., Heymans, Stephane R. B., Brunner, Han G., Verdonschot, Job A. J.
Published in Genetics in medicine (01.11.2021)
Published in Genetics in medicine (01.11.2021)
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Journal Article
Diagnostic and prognostic relevance of using large gene panels in the genetic testing of patients with dilated cardiomyopathy
Stroeks, Sophie L V M, Hellebrekers, Debby, Claes, Godelieve R F, Krapels, Ingrid P C, Henkens, Michiel H T M, Sikking, Maurits, Vanhoutte, Els K, Helderman-van den Enden, Apollonia, Brunner, Han G, van den Wijngaard, Arthur, Verdonschot, Job A J
Published in European journal of human genetics : EJHG (01.07.2023)
Published in European journal of human genetics : EJHG (01.07.2023)
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Mutations in PIEZO2 Cause Gordon Syndrome, Marden-Walker Syndrome, and Distal Arthrogryposis Type 5
McMillin, Margaret J., Beck, Anita E., Chong, Jessica X., Shively, Kathryn M., Buckingham, Kati J., Gildersleeve, Heidi I.S., Aracena, Mariana I., Aylsworth, Arthur S., Bitoun, Pierre, Carey, John C., Clericuzio, Carol L., Crow, Yanick J., Curry, Cynthia J., Devriendt, Koenraad, Everman, David B., Fryer, Alan, Gibson, Kate, Giovannucci Uzielli, Maria Luisa, Graham, John M., Hall, Judith G., Hecht, Jacqueline T., Heidenreich, Randall A., Hurst, Jane A., Irani, Sarosh, Krapels, Ingrid P.C., Leroy, Jules G., Mowat, David, Plant, Gordon T., Robertson, Stephen P., Schorry, Elizabeth K., Scott, Richard H., Seaver, Laurie H., Sherr, Elliott, Splitt, Miranda, Stewart, Helen, Stumpel, Constance, Temel, Sehime G., Weaver, David D., Whiteford, Margo, Williams, Marc S., Tabor, Holly K., Smith, Joshua D., Shendure, Jay, Nickerson, Deborah A., Bamshad, Michael J.
Published in American journal of human genetics (01.05.2014)
Published in American journal of human genetics (01.05.2014)
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Journal Article
Rare novel variants in the ZIC3 gene cause X-linked heterotaxy
Paulussen, Aimee D C, Steyls, Anja, Vanoevelen, Jo, van Tienen, Florence Hj, Krapels, Ingrid P C, Claes, Godelieve Rf, Chocron, Sonja, Velter, Crool, Tan-Sindhunata, Gita M, Lundin, Catarina, Valenzuela, Irene, Nagy, Balint, Bache, Iben, Maroun, Lisa Leth, Avela, Kristiina, Brunner, Han G, Smeets, Hubert J M, Bakkers, Jeroen, van den Wijngaard, Arthur
Published in European journal of human genetics : EJHG (01.12.2016)
Published in European journal of human genetics : EJHG (01.12.2016)
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Journal Article
Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic Service
Westra, Dineke, Schouten, Meyke I., Stunnenberg, Bas C., Kusters, Benno, Saris, Christiaan G.J., Erasmus, Corrie E., van Engelen, Baziel G., Bulk, Saskia, Verschuuren-Bemelmans, Corien C., Gerkes, E.H., de Geus, Christa, van der Zwaag, P.A., Chan, Sophelia, Chung, Brian, Barge-Schaapveld, Daniela Q.C.M., Kriek, Marjolein, Sznajer, Yves, van Spaendonck-Zwarts, Karin, van der Kooi, Anneke J., Krause, Amanda, Schönewolf-Greulich, Bitten, de Die-Smulders, Christine, Sallevelt, Suzanne C.E.H., Krapels, Ingrid P.C., Rasmussen, Magnhild, Maystadt, Isabelle, Kievit, Anneke J.A., Witting, Nanna, Pennings, Maartje, Meijer, Rowdy, Gillissen, Christian, Kamsteeg, Erik-Jan, Voermans, Nicol C.
Published in Journal of neuromuscular diseases (01.01.2019)
Published in Journal of neuromuscular diseases (01.01.2019)
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Titin cardiomyopathy leads to altered mitochondrial energetics, increased fibrosis and long-term life-threatening arrhythmias
Verdonschot, Job A J, Hazebroek, Mark R, Derks, Kasper W J, Barandiarán Aizpurua, Arantxa, Merken, Jort J, Wang, Ping, Bierau, Jörgen, van den Wijngaard, Arthur, Schalla, Simon M, Abdul Hamid, Myrurgia A, van Bilsen, Marc, van Empel, Vanessa P M, Knackstedt, Christian, Brunner-La Rocca, Hans-Peter, Brunner, Han G, Krapels, Ingrid P C, Heymans, Stephane R B
Published in European heart journal (07.03.2018)
Published in European heart journal (07.03.2018)
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Journal Article
Clinical Risk Score to Predict Pathogenic Genotypes in Patients With Dilated Cardiomyopathy
Escobar-Lopez, Luis, Ochoa, Juan Pablo, Royuela, Ana, Verdonschot, Job A J, Dal Ferro, Matteo, Espinosa, Maria Angeles, Sabater-Molina, Maria, Gallego-Delgado, Maria, Larrañaga-Moreira, Jose M, Garcia-Pinilla, Jose M, Basurte-Elorz, Maria Teresa, Rodríguez-Palomares, José F, Climent, Vicente, Bermudez-Jimenez, Francisco J, Mogollón-Jiménez, María Victoria, Lopez, Javier, Peña-Peña, Maria Luisa, Garcia-Alvarez, Ana, López-Abel, Bernardo, Ripoll-Vera, Tomas, Palomino-Doza, Julian, Bayes-Genis, Antoni, Brugada, Ramon, Idiazabal, Uxua, Mirelis, Jesus G, Dominguez, Fernando, Henkens, Michiel T H M, Krapels, Ingrid P C, Brunner, Han G, Paldino, Alessia, Zaffalon, Denise, Mestroni, Luisa, Sinagra, Gianfranco, Heymans, Stephane R B, Merlo, Marco, Garcia-Pavia, Pablo
Published in Journal of the American College of Cardiology (20.09.2022)
Published in Journal of the American College of Cardiology (20.09.2022)
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Journal Article
Clinical Phenotype and Genotype Associations With Improvement in Left Ventricular Function in Dilated Cardiomyopathy
Verdonschot, Job A J, Hazebroek, Mark R, Wang, Ping, Sanders-van Wijk, Sandra, Merken, Jort J, Adriaansen, Yvonne A, van den Wijngaard, Arthur, Krapels, Ingrid P C, Brunner-La Rocca, Hans-Peter, Brunner, Han G, Heymans, Stephane R B
Published in Circulation. Heart failure (01.11.2018)
Published in Circulation. Heart failure (01.11.2018)
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Journal Article
Value of Speckle Tracking–Based Deformation Analysis in Screening Relatives of Patients With Asymptomatic Dilated Cardiomyopathy
Verdonschot, Job A.J., Merken, Jort J., Brunner-La Rocca, Hans-Peter, Hazebroek, Mark R., Eurlings, Casper G.M.J., Thijssen, Eline, Wang, Ping, Weerts, Jerremy, van Empel, Vanessa, Schummers, Georg, Schreckenberg, Marcus, van den Wijngaard, Arthur, Lumens, Joost, Brunner, Han G., Heymans, Stephane R.B., Krapels, Ingrid P.C., Knackstedt, Christian
Published in JACC. Cardiovascular imaging (01.02.2020)
Published in JACC. Cardiovascular imaging (01.02.2020)
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Journal Article
Maternal Nutritional Status and the Risk for Orofacial Cleft Offspring in Humans
Krapels, Ingrid P.C., van Rooij, Iris A.L.M., Ocké, Marga C., West, Clive E., van der Horst, Chantal M.A.M., Steegers-Theunissen, Régine P.M.
Published in The Journal of nutrition (01.11.2004)
Published in The Journal of nutrition (01.11.2004)
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Journal Article
Periconceptional health and lifestyle factors of both parents affect the risk of live-born children with orofacial clefts
Krapels, Ingrid P C, Zielhuis, Gerhard A, Vroom, Fokaline, de Jong-van den Berg, Lolkje T W, Kuijpers-Jagtman, Anne-Marie, van der Molen, Aebele B Mink, Steegers-Theunissen, Régine P M
Published in Birth defects research. A Clinical and molecular teratology (01.08.2006)
Published in Birth defects research. A Clinical and molecular teratology (01.08.2006)
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Journal Article
Enrichment of Rare Variants in Loeys–Dietz Syndrome Genes in Spontaneous Coronary Artery Dissection but Not in Severe Fibromuscular Dysplasia
Verstraeten, Aline, Perik, Melanie H.A.M., Baranowska, Anna A., Meester, Josephina A.N., Van Den Heuvel, Lotte, Bastianen, Jarl, Kempers, Marlies, Krapels, Ingrid P.C., Maas, Angela, Rideout, Andrea, Vandersteen, Anthony, Sobey, Glenda, Johnson, Diana, Fransen, Erik, Ghali, Neeti, Webb, Tom, Al-Hussaini, Abtehale, de Leeuw, Peter, Delmotte, Philippe, Lopez-Sublet, Marilucy, Pappaccogli, Marco, Sprynger, Muriel, Toubiana, Laurent, Van Laer, Lut, Van Dijk, Fleur S., Vikkula, Miikka, Samani, Nilesh J., Persu, Alexandre, Adlam, David, Loeys, Bart
Published in Circulation (New York, N.Y.) (08.09.2020)
Published in Circulation (New York, N.Y.) (08.09.2020)
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Journal Article
MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature
Karayol, Remzi, Borroto, Maria Carla, Haghshenas, Sadegheh, Namasivayam, Anoja, Reilly, Jack, Levy, Michael A., Relator, Raissa, Kerkhof, Jennifer, McConkey, Haley, Shvedunova, Maria, Petersen, Andrea K., Magnussen, Kari, Zweier, Christiane, Vasileiou, Georgia, Reis, André, Savatt, Juliann M., Mulligan, Meghan R., Bicknell, Louise S., Poke, Gemma, Abu-El-Haija, Aya, Duis, Jessica, Hannig, Vickie, Srivastava, Siddharth, Barkoudah, Elizabeth, Hauser, Natalie S., van den Born, Myrthe, Hamiel, Uri, Henig, Noa, Baris Feldman, Hagit, McKee, Shane, Krapels, Ingrid P.C., Lei, Yunping, Todorova, Albena, Yordanova, Ralitsa, Atemin, Slavena, Rogac, Mihael, McConnell, Vivienne, Chassevent, Anna, Barañano, Kristin W., Shashi, Vandana, Sullivan, Jennifer A., Peron, Angela, Iascone, Maria, Canevini, Maria P., Friedman, Jennifer, Reyes, Iris A., Kierstein, Janell, Shen, Joseph J., Ahmed, Faria N., Mao, Xiao, Almoguera, Berta, Blanco-Kelly, Fiona, Platzer, Konrad, Treu, Ariana-Berenike, Quilichini, Juliette, Bourgois, Alexia, Chatron, Nicolas, Januel, Louis, Rougeot, Christelle, Carere, Deanna Alexis, Monaghan, Kristin G., Rousseau, Justine, Myers, Kenneth A., Sadikovic, Bekim, Akhtar, Asifa, Campeau, Philippe M.
Published in American journal of human genetics (11.07.2024)
Published in American journal of human genetics (11.07.2024)
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Left Atrial Function in Patients with Titin Cardiomyopathy
HENKENS, MICHIEL T.H.M., RAAFS, ANNE G., VANLOON, TIM, VOS, JACQUELINE L., VANDENWIJNGAARD, ARTHUR, BRUNNER, HAN G., KRAPELS, INGRID P.C., KNACKSTEDT, CHRISTIAN, GERRETSEN, SUZANNE, HAZEBROEK, MARK R., VERNOOY, KEVIN, NIJVELDT, ROBIN, LUMENS, JOOST, VERDONSCHOT, JOB A.J.
Published in Journal of cardiac failure (01.01.2024)
Published in Journal of cardiac failure (01.01.2024)
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Journal Article
Metabolic Profiling Associates with Disease Severity in Nonischemic Dilated Cardiomyopathy
Verdonschot, Job A.J., Wang, Ping, Van Bilsen, Marc, Hazebroek, Mark R., Merken, Jort J., Vanhoutte, Els K., Henkens, Michiel T.H.M., Van Den Wijngaard, Arthur, Glatz, Jan F.C., Krapels, Ingrid P.C., Brunner, Han G., Heymans, Stephane R.B., Bierau, Jörgen
Published in Journal of cardiac failure (01.03.2020)
Published in Journal of cardiac failure (01.03.2020)
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Journal Article
Familial Evaluation in Idiopathic Ventricular Fibrillation: Diagnostic Yield and Significance of J Wave Syndromes
Mellor, Greg J., Blom, Lennart J., Groeneveld, Sanne A., Winkel, Bo G., Ensam, Bode, Bargehr, Johannes, van Rees, Bianca, Scrocco, Chiara, Krapels, Ingrid P.C., Volders, Paul G.A., Tfelt-Hansen, Jacob, Krahn, Andrew D., Hassink, Rutger J., Behr, Elijah R.
Published in Circulation. Arrhythmia and electrophysiology (01.03.2021)
Published in Circulation. Arrhythmia and electrophysiology (01.03.2021)
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Journal Article
Dynamic Ejection Fraction Trajectory in Patients With Dilated Cardiomyopathy With a Truncating Titin Variant
Henkens, Michiel T.H.M., Stroeks, Sophie L.V.M., Raafs, Anne G., Sikking, Maurits A., Tromp, Jasper, Ouwerkerk, Wouter, Hazebroek, Mark R., Krapels, Ingrid P.C., Knackstedt, Christian, van den Wijngaard, Arthur, Brunner, Han G., Heymans, Stephane R.B., Verdonschot, Job A.J.
Published in Circulation. Heart failure (01.08.2022)
Published in Circulation. Heart failure (01.08.2022)
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