Apollonia Helderman - van den Enden

Research output

Research output per year 2010 2011 2013 2017 2018 2019 2023 2023

• 21 Article

Research output per year

Research output per year

Search results

• 2023

  Diagnostic and prognostic relevance of using large gene panels in the genetic testing of patients with dilated cardiomyopathy

  Stroeks, S. L. V. M., Hellebrekers, D., Claes, G. R. F., Krapels, I. P. C., Henkens, M. H. T. M., Sikking, M., Vanhoutte, E. K., van den Enden, A., Brunner, H. G., van den Wijngaard, A. & Verdonschot, J. A. J., Jul 2023, In: European Journal of Human Genetics. 31, 7, p. 776-783 8 p.

  Research output: Contribution to journal › Article › Academic › peer-review

• Juvenile-onset multifocal atrial arrhythmias, atrial standstill and compound heterozygosity of genetic variants in TAF1A: sentinel event for evolving dilated cardiomyopathy-a case report

  ter Bekke, R. M. A., de Schouwer, K., Conti, S., Claes, G. R. F., Vanoevelen, J., Gommers, S., Helderman-van den Enden, A. T. J. M. & Brunner-LaRocca, H-P., 2 Jun 2023, In: European Heart Journal - Case Reports. 7, 6, 5 p., ytad255.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

• Standing genetic variation affects phenotypic heterogeneity in an SCN5A-mutation founder population with excess sudden cardiac death

  Isaacs, A., Barysenka, A., ter Bekke, R. M. A., den Enden, A. T. J. M. H., van den Wijngaard, A., Volders, P. G. A. & Stoll, M., 1 May 2023, In: Heart Rhythm. 20, 5, p. 720-727 8 p.

  Research output: Contribution to journal › Article › Academic › peer-review
• 2022

  Surveillance and monitoring in vascular Ehlers-Danlos syndrome in European Reference Network For Rare Vascular Diseases (VASCERN)

  van de Laar, I. M. B. H., Baas, A. F., De Backer, J., Blankenstein, J. D., Dulfer, E., Helderman-van den Enden, A. T. J. M., Houweling, A. C., Kempers, M. J., Loeys, B., Malfait, F., Robert, L., Tanteles, G. & Frank, M., Sept 2022, In: European Journal of Medical Genetics. 65, 9, 3 p., 104557.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
• 2020

  A mutation update for the FLNC gene in myopathies and cardiomyopathies

  Verdonschot, J. A. J., Vanhoutte, E. K., Claes, G. R. F., van den Enden, A. T. J. M. H., Hoeijmakers, J. G. J., Hellebrekers, D. M. E. I., Haan, A. D., Christiaans, I., Deprez, R. H. L., Boen, H. M., Craenenbroeck, E. M. V., Loeys, B. L., Hoedemaekers, Y. M., Marcelis, C., Kempers, M., Brusse, E., Waning, J. I., Baas, A. F., Dooijes, D., Asselbergs, F. W., & 6 othersBarge-Schaapveld, D. Q. C. M., Koopman, P., Wijngaard, A. V. D., Heymans, S. R. B., Krapels, I. P. C. & Brunner, H. G., Jun 2020, In: Human Mutation. 41, 6, p. 1091-1111 21 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
• 2019

  Interim Results from the IMPACT Study: Evidence for Prostate-specific Antigen Screening in BRCA2 Mutation Carriers

  Page, E. C., Bancroft, E. K., Brook, M. N., Assel, M., Al Battat, M. H., Thomas, S., Taylor, N., Chamberlain, A., Pope, J., Raghallaigh, H. N., Evans, D. G., Rothwell, J., Maehle, L., Grindedal, E. M., James, P., Mascarenhas, L., McKinley, J., Side, L., Thomas, T., van Asperen, C., & 32 othersVasen, H., Kiemeney, L. A., Ringelberg, J., Jensen, T. D., Osther, P. J. S., Helfand, B. T., Genova, E., Oldenburg, R. A., Cybulski, C., Wokolorczyk, D., Ong, K-R., Huber, C., Lam, J., Taylor, L., Salinas, M., Feliubadalo, L., Oosterwijk, J. C., van Zelst-Stamsm, W., Cook, J., Rosario, D. J., Domchek, S., Powers, J., Buys, S., O'Toole, K., Ausems, M. G. E. M., Schmutzler, R. K., Rhiem, K., Izatt, L., Tripathi, V., van den Enden, A. T. J. M. H., IMPACT Study Collaborators & Eeles, R. A., Dec 2019, In: European Urology. 76, 6, p. 831-842 12 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

• Mortality Risk Associated With Truncating Founder Mutations in Titin

  Jansen, M., Baas, A. F., van Spaendonck-Zwarts, K. Y., Ummels, A. S., van den Wijngaard, A., Jongbloed, J. D. H., van Slegtenhorst, M. A., Deprez, R. H. L., Wessels, M. W., Michels, M., Houweling, A. C., Hoorntje, E. T., Helderman-van den Enden, P. J. T. M., Barge-Schaapveld, D. Q. C. M., van Tintelen, J. P., van den Berg, M. P., Wilde, A. A. M., van Amstel, H. K. P., Hennekam, E. A. M., Asselbergs, F. W., & 2 othersSijbrands, E. J. G. & Dooijes, D., May 2019, In: Circulation: Genomic and Precision Medicine. 12, 5, 8 p., e002436.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
• 2018

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

  Verhagen, J. M. A., Veldman, J. H., van der Zwaag, P. A., von der Thusen, J. H., Brosens, E., Christiaans, M., Dooijes, D., Helderman-van den Enden, A. T. J. M., Deprez, R. H. L., Michels, M., van Mil, A. M., Oldenburg, R. A., van der Smagt, J. J., van den Wijngaard, A., Wessels, M. W., Hofstra, R. M. W., van Slegtenhorst, M. A., Jongbloed, J. D. H. & van de Laar, I. M. B. H., 1 Nov 2018, In: European Journal of Human Genetics. 26, 11, p. 1603-1610 8 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

• Prostate-specific antigen velocity in a prospective prostate cancer screening study of men with genetic predisposition

  Mikropoulos, C., Selkirk, C. G. H., Saya, S., Bancroft, E., Vertosick, E., Dadaev, T., Brendler, C., Page, E., Dias, A., Evans, D. G., Rothwell, J., Maehle, L., Axcrona, K., Richardson, K., Eccles, D., Jensen, T., Osther, P. J., van Asperen, C. J., Vasen, H., Kiemeney, L. A., & 33 othersRingelberg, J., Cybulski, C., Wokolorczyk, D., Hart, R., Glover, W., Lam, J., Taylor, L., Salinas, M., Feliubadalo, L., Oldenburg, R., Cremers, R., Verhaegh, G., van Zelst-Stams, W. A., Oosterwijk, J. C., Cook, J., Rosario, D. J., Buys, S. S., Conner, T., Domchek, S., Powers, J., Ausems, M. G. E. M., Teixeira, M. R., Maia, S., Izatt, L., Schmutzler, R., Rhiem, K., Foulkes, W. D., Boshari, T., Davidson, R., Ruijs, M., van den Enden, A., IMPACT Study Collaborators & Eeles, R. A., 23 Jan 2018, In: British Journal of Cancer. 118, 2, p. 266-276 11 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
• 2017

  Heritability in a SCN5A-mutation founder population with increased female susceptibility to non-nocturnal ventricular tachyarrhythmia and sudden cardiac death

  ter Bekke, R. M. A., Isaacs, A., Barysenka, A., Hoos, M. B., Jongbloed, J. D. H., Hoorntje, J. C. A., Patelski, A. S. M., Helderman-van den Enden, A. T. J. M., van den Wijngaard, A., Stoll, M. & Volders, P. G. A., Dec 2017, In: Heart Rhythm. 14, 12, p. 1873-1881 9 p.

  Research output: Contribution to journal › Article › Academic › peer-review

• Propionic acidemia as a cause of adult-onset dilated cardiomyopathy

  Riemersma, M., Hazebroek, M. R., Helderman-van den Enden, A. T. J. M., Salomons, G. S., Ferdinandusse, S., Brouwers, M. C. G. J., van der Ploeg, L., Heymans, S., Glatz, J. F. C., van den Wijngaard, A., Krapels, I. P. C., Bierau, J. & Brunner, H. G., Nov 2017, In: European Journal of Human Genetics. 25, 11, p. 1195-1201 7 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
• 2016

  Hypertrophic remodelling in cardiac regulatory myosin light chain (MYL2) founder mutation carriers

  Claes, G. R. F., van Tienen, F. H. J., Lindsey, P., Krapels, I. P. C., van den Enden, A., Hoos, M., Barrois, Y. E. G., Janssen, J., Paulussen, A. D. C., Sels, J-W. E. M., Kuijpers, S. H. H., van Tintelen, J. P., van den Berg, M. P., Heesen, W. F., Garcia-Pavia, P., Perrot, A., Christiaans, I., Salemink, S., Marcelis, C. L. M., Smeets, B., & 3 othersBrunner, H. G., Volders, P. G. A. & van den Wijngaard, A., 14 Jun 2016, In: European Heart Journal. 37, 23, p. 1815-1822

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
• 2015

  Heterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver Syndrome

  Meester, J. A. N., Southgate, L., Stittrich, A-B., Venselaar, H., Beekmans, S. J. A., den Hollander, N., Bijlsma, E. K., den Enden, A. H., Verheij, J. B. G. M., Glusman, G., Roach, J. C., Lehman, A., Patel, M. S., de Vries, B. B. A., Ruivenkamp, C., Itin, P., Prescott, K., Clarke, S., Trembath, R., Zenker, M., & 4 othersSukalo, M., Van Laer, L., Loeys, B. & Wuyts, W., 3 Sept 2015, In: American Journal of Human Genetics. 97, 3, p. 475-482

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
• 2014

  Targeted Prostate Cancer Screening in BRCA1 and BRCA2 Mutation Carriers: Results from the Initial Screening Round of the IMPACT Study

  Bancroft, E. K., Page, E. C., Castro, E., Lilja, H., Vickers, A., Sjoberg, D., Assel, M., Foster, C. S., Mitchell, G., Drew, K., Maehle, L., Axcrona, K., Evans, D. G., Bulman, B., Eccles, D., McBride, D., van Asperen, C., Vasen, H., Kiemeney, L. A., Ringelberg, J., & 95 othersCybulski, C., Wokolorczyk, D., Selkirk, C., Hulick, P. J., Bojesen, A., Skytte, A-B., Lam, J., Taylor, L., Oldenburg, R., Cremers, R., Verhaegh, G., van Zelst-Stams, W. A., Oosterwijk, J. C., Blanco, I., Salinas, M., Cook, J., Rosario, D. J., Buys, S., Conner, T., Ausems, M. G., Ong, K., Hoffman, J., Domchek, S., Powers, J., Teixeira, M. R., Maia, S., Foulkes, W. D., Taherian, N., Ruijs, M., Helderman-van den Enden, A. T., Izatt, L., Davidson, R., Adank, M. A., Walker, L., Schmutzler, R., Tucker, K., Kirk, J., Hodgson, S., Harris, M., Douglas, F., Lindeman, G. J., Zgajnar, J., Tischkowitz, M., Clowes, V. E., Susman, R., Ramon y Cajal, T., Patcher, N., Gadea, N., Spigelman, A., van Os, T., Liljegren, A., Side, L., Brewer, C., Brady, A. F., Donaldson, A., Stefansdottir, V., Friedman, E., Chen-Shtoyerman, R., Amor, D. J., Copakova, L., Barwell, J., Giri, V. N., Murthy, V., Nicolai, N., Teo, S-H., Greenhalgh, L., Strom, S., Henderson, A., McGrath, J., Gallagher, D., Aaronson, N., Ardern-Jones, A., Bangma, C., Dearnaley, D., Costello, P., Eyfjord, J., Rothwell, J., Falconer, A., Gronberg, H., Hamdy, F. C., Johannsson, O., Khoo, V., Kote-Jarai, Z., Lubinski, J., Axcrona, U., Melia, J., McKinley, J., Mitra, A. V., Moynihan, C., Rennert, G., Suri, M., Wilson, P., Killick, E., Moss, S. & Eeles, R. A., Sept 2014, In: European Urology. 66, 3, p. 489-499

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
• 2013

  An urgent need for a change in policy revealed by a study on prenatal testing for Duchenne muscular dystrophy

  Helderman-van den Enden, A. T. J. M., Madan, K., Breuning, M. H., van der Hout, A. H., Bakker, E., de Die-Smulders, C. E. M. & Ginjaar, H. B., Jan 2013, In: European Journal of Human Genetics. 21, 1, p. 21-26

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

• Ebstein's anomaly may be caused by mutations in the sarcomere protein gene MYH7

  van Engelen, K., Postma, A. V., van de Meerakker, J. B. A., Roos-Hesselink, J. W., Helderman-van den Enden, A. T. J. M., Vliegen, H. W., Rahman, T., Baars, M. J. H., Sels, J-W., Bauer, U., Pickardt, T., Sperling, S. R., Moorman, A. F. M., Keavney, B., Goodship, J., Klaassen, S. & Mulder, B. J. M., Mar 2013, In: Netherlands Heart Journal. 21, 3, p. 113-117

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
• 2011

  Duchenne/Becker muscular dystrophy in the family: have potential carriers been tested at a molecular level?

  Helderman-van den Enden, A. T. J. M., van den Bergen, J. C., Breuning, M. H., Verschuuren, J. J. G. M., Tibben, A., Bakker, E. & Ginjaar, H. B., Mar 2011, In: Clinical Genetics. 79, 3, p. 236-242

  Research output: Contribution to journal › Article › Academic › peer-review

• Dystrophin quantification and clinical correlations in Becker muscular dystrophy: implications for clinical trials

  Anthony, K., Cirak, S., Torelli, S., Tasca, G., Feng, L., Arechavala-Gomeza, V., Armaroli, A., Guglieri, M., Straathof, C. S., Verschuuren, J., Aartsma-Rus, A., Helderman-van den Enden, P., Bushby, K., Straub, V., Sewry, C., Ferlini, A., Ricci, E., Morgan, J. E. & Muntoni, F., Dec 2011, In: Brain. 134, p. 3544-3556

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

• Manifest disease, risk factors for sudden cardiac death, and cardiac events in a large nationwide cohort of predictively tested hypertrophic cardiomyopathy mutation carriers: determining the best cardiological screening strategy

  Christiaans, I., Birnie, E., Bonsel, G. J., Mannens, M. M. A. M., Michels, M., Majoor-Krakauer, D., Dooijes, D., van Tintelen, J. P., Van den Berg, M. P., Volders, P. G. A., Arens, Y. H., van den Wijngaard, A., Atsma, D. E., Helderman-van den Enden, A. T. J. M., Houweling, A. C., de Boer, K., van der Smagt, J. J., Hauer, R. N. W., Marcelis, C. L. M., Timmermans, J., & 2 othersvan Langen, I. M. & Wilde, A. A. M., May 2011, In: European Heart Journal. 32, 9, p. 1161-1170

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

• X-chromosome duplications in males with mental retardation: pathogenic or benign variants?

  Gijsbers, A. C. J., Den Hollander, N. S., Helderman-van den Enden, A. T. J. M., Schuurs-Hoeijmakers, J. H. M., Vijfhuizen, L., Bijlsma, E. K., van Haeringen, A., Hansson, K. B. M., Bakker, E., Breuning, M. H. & Ruivenkamp, C. A. L., Jan 2011, In: Clinical Genetics. 79, 1, p. 71-78

  Research output: Contribution to journal › Article › Academic › peer-review
• 2010

  The yield of risk stratification for sudden cardiac death in hypertrophic cardiomyopathy myosin-binding protein C gene mutation carriers: focus on predictive screening

  Christiaans, I., Birnie, E., van Langen, I. M., van Spaendonck-Zwarts, K. Y., van Tintelen, J. P., Van den Berg, M. P., Atsma, D. E., Helderman-van den Enden, A. T. J. M., Pinto, Y. M., Hermans-van Ast, J. F., Bonsel, G. J. & Wilde, A. A. M., Apr 2010, In: European Heart Journal. 31, 7, p. 842-848

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access