Ingrid Krapels

Research output

Research output per year 2011 2020 2021 2022 2023 2024

• 39 Article
• 4 Comment/Letter to the editor
• 2 Erratum / corrigendum / retractions
• 1 Preprint

Research output per year

Research output per year

Search results

• After the Introduction into the National Newborn Screening Program: Who Is Receiving Genetic Counseling for Hemoglobinopathies in The Netherlands?

  Kaufmann, J. O., Krapels, I. P. C., Van Brussel, B. T. J., Zekveld-Vroon, R. C., Oosterwijk, J. C., van Erp, F., van Echtelt, J., Zwijnenburg, P. J. G., Petrij, F., Bakker, E. & Giordano, P. C., 2014, In: Public Health Genomics. 17, 1, p. 16-22

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

• A global longitudinal strain cut-off value to predict adverse outcomes in individuals with a normal ejection fraction

  Verdonschot, J. A. J., Henkens, M. T. H. M., Wang, P., Schummers, G., Raafs, A. G., Krapels, I. P. C., van Empel, V., Heymans, S. R. B., Brunner-La Rocca, H-P. & Knackstedt, C., Oct 2021, In: Esc heart failure. 8, 5, p. 4343-4345 3 p.

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

  Open Access

• All-in-one whole exome sequencing strategy with simultaneous copy number variant, single nucleotide variant and absence-of-heterozygosity analysis in fetuses with structural ultrasound anomalies: A 1-year experience

  Faas, B. H. W., Westra, D., de Munnik, S. A., van Rij, M., Marcelis, C., Joosten, S., Krapels, I., Vernimmen, V., Heijligers, M., Willemsen, M. H., de Leeuw, N., Rinne, T., Pfundt, R., Smeekens, S. P., Stegmann, S. P. A., Macville, M., Sikkel, E., Coumans, A., Wijnberger, L., Derks, I., & 6 othersvan Lent-Albrechts, J., Hofste, T., Timmermans, R., van den End, J., Stevens, S. J. C. & Feenstra, I., Apr 2023, In: Prenatal Diagnosis. 43, 4, p. 527-543 17 p.

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

  Open Access

• 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

• Assessment of fibroblast nuclear morphology aids interpretation of LMNA variants

  van Tienen, F., Lindsey, P., Kamps, M., Krapels, I., Ramaekers, F., Brunner, H., van den Wijngaard, A. & Broers, J., Mar 2019, In: European Journal of Human Genetics. 27, 3, p. 389–399 11 p.

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

  Open Access

• Beauty and the beat: A complicated case of multifocal ectopic Purkinje-related premature contractions

  Ter Bekke, R. M. A., David, M., Krapels, I. P. C., Crijns, H. J. G. M. & Volders, P. G. A., Sept 2018, In: HeartRhythm Case Reports. 4, 9, p. 429-433 5 p.

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

  Open Access

• Clinical impact of re-evaluating genes and variants implicated in dilated cardiomyopathy

  Stroeks, S. L. V. M., Hellebrekers, D. M. E. I., Claes, G. R. F., Tayal, U., Krapels, I. P. C., Vanhoutte, E. K., van den Wijngaard, A., Henkens, M. T. H. M., Ware, J. S., Heymans, S. R. B., Brunner, H. G. & Verdonschot, J. A. J., Nov 2021, In: Genetics in Medicine. 23, 11, p. 2186-2193 8 p.

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

  Open Access

• Clinical Phenotype and Genotype Associations With Improvement in Left Ventricular Function in Dilated Cardiomyopathy

  Verdonschot, J. A. J., Hazebroek, M. R., Wang, P., Sanders-van Wijk, S., Merken, J. J., Adriaansen, Y. A., van den Wijngaard, A., Krapels, I. P. C., Brunner-La Rocca, H-P., Brunner, H. G. & Heymans, S. R. B., Nov 2018, In: Circulation-Heart Failure. 11, 11, 10 p., 005220.

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

  Open Access

• Clinical Risk Score to Predict Pathogenic Genotypes in Patients With Dilated Cardiomyopathy

  Escobar-Lopez, L., Ochoa, J. P., Royuela, A., Verdonschot, J. A. J., Dal Ferro, M., Espinosa, M. A., Sabater-Molina, M., Gallego-Delgado, M., Larrañaga-Moreira, J. M., Garcia-Pinilla, J. M., Basurte-Elorz, M. T., Rodríguez-Palomares, J. F., Climent, V., Bermudez-Jimenez, F. J., Mogollón-Jiménez, M. V., Lopez, J., Peña-Peña, M. L., Garcia-Alvarez, A., López-Abel, B., Ripoll-Vera, T., & 16 othersPalomino-Doza, J., Bayes-Genis, A., Brugada, R., Idiazabal, U., Mirelis, J. G., Dominguez, F., Henkens, M. T. H. M., Krapels, I. P. C., Brunner, H. G., Paldino, A., Zaffalon, D., Mestroni, L., Sinagra, G., Heymans, S. R. B., Merlo, M. & Garcia-Pavia, P., 20 Sept 2022, In: Journal of the American College of Cardiology. 80, 12, p. 1115-1126 12 p.

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

  Open Access

• Clustering of Cardiac Transcriptome Profiles Reveals Unique Subgroups of Dilated Cardiomyopathy Patients

  Verdonschot, J. A. J., Wang, P., Derks, K. W. J., Adriaens, M. E., Stroeks, S. L. V. M., Henkens, M. T. H. M., Raafs, A. G., Sikking, M., de Koning, B., van den Wijngaard, A., Krapels, I. P. C., Nabben, M., Brunner, H. G. & Heymans, S. R. B., 1 Apr 2023, In: JACC: Basic to Translational Science. 8, 4, p. 406-418 13 p.

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

  Open Access

• Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome

  Albers, C. A., Paul, D. S., Schulze, H., Freson, K., Stephens, J. C., Smethurst, P. A., Jolley, J. D., Cvejic, A., Kostadima, M., Bertone, P., Breuning, M. H., Debili, N., Deloukas, P., Favier, R., Fiedler, J., Hobbs, C. M., Huang, N., Hurles, M. E., Kiddle, G., Krapels, I., & 11 othersNurden, P., Ruivenkamp, C. A. L., Sambrook, J. G., Smith, K., Stemple, D. L., Strauss, G., Thys, C., van Geet, C., Newbury-Ecob, R., Ouwehand, W. H. & Ghevaert, C., Apr 2012, In: Nature Genetics. 44, 4, p. 435-U248

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

• Cytoplasmic localization of PML particles in laminopathies

  Houben, F., De Vos, W. H., Krapels, I. P. C., Coorens, M., Kierkels, G. J. J., Kamps, M. A. F., Verstraeten, V. L. R. M., Marcelis, C. L. M., van den Wijngaard, A., Ramaekers, F. C. S. & Broers, J. L. V., Jan 2013, In: Histochemistry and Cell Biology. 139, 1, p. 119-134

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

• 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

• Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls

  Walsh, R., Lahrouchi, N., Tadros, R., Kyndt, F., Glinge, C., Postema, P. G., Amin, A. S., Nannenberg, E. A., Ware, J. S., Whiffin, N., Mazzarotto, F., Skoric-Milosavljevic, D., Krijger, C., Arbelo, E., Babuty, D., Barajas-Martinez, H., Beckmann, B. M., Bezieau, S., Bos, J. M., Breckpot, J., & 31 othersCampuzano, O., Castelletti, S., Celen, C., Clauss, S., Corveleyn, A., Crotti, L., Dagradi, F., de Asmundis, C., Denjoy, I., Dittmann, S., Ellinor, P. T., Ortuno, C. G., Giustetto, C., Gourraud, J-B., Hazeki, D., Horie, M., Ishikawa, T., Itoh, H., Kaneko, Y., Kanters, J. K., Kimoto, H., Kotta, M-C., Krapels, I. P. C., Kurabayashi, M., Lazarte, J., Leenhardt, A., Loeys, B. L., Lundin, C., Makiyama, T., Volders, P. G. A. & Nantes Referral Center for inherited cardiac arrhythmia, Jan 2021, In: Genetics in Medicine. 23, 1, p. 47-58 12 p.

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

  Open Access

• Expanding the genetic and phenotypic spectrum of ACTA2-related vasculopathies in a Dutch cohort

  van den Bersselaar, L. M., Verhagen, J. M. A., Bekkers, J. A., Kempers, M., Houweling, A. C., Baars, M., Overwater, E., Hilhorst-Hofstee, Y., Barge-Schaapveld, D. Q. C. M., Rompen, E., Krapels, I. P. C., Dulfer, E., Wessels, M. W., Loeys, B. L., Verhagen, H. J. M., Maugeri, A., Roos-Hesselink, J. W., Bruggenwirth, H. T. & Van De Laar, I. M. B. H., 1 Oct 2022, In: Genetics in Medicine. 24, 10, p. 2112-2122 11 p.

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

  Open Access

• Familial Evaluation in Idiopathic Ventricular Fibrillation: Diagnostic Yield and Significance of J Wave Syndromes

  Mellor, G. J., Blom, L. J., Groeneveld, S. A., Winkel, B. G., Ensam, B., Bargehr, J., van Rees, B., Scrocco, C., Krapels, I. P. C., Volders, P. G. A., Tfelt-Hansen, J., Krahn, A. D., Hassink, R. J. & Behr, E. R., 1 Mar 2021, In: Circulation-Arrhythmia and Electrophysiology. 14, 3, p. 296-305 10 p., 009089.

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

  Open Access

• Growth charts for Marfan syndrome in the Netherlands and analysis of genotype-phenotype relationships

  Lauffer, P., Pals, G., Zwinderman, A. H., Postema, F. A. M., Baars, M. J. H., Dulfer, E., Hilhorst-Hofstee, Y., Houweling, A. C., Kempers, M., Krapels, I. P. C., van de Laar, I. M. B. H., Loeys, B., Spaans, A. M. J., Warnink-Kavelaars, J., de Waard, V., Wit, J. M. & Menke, L. A., Feb 2023, In: American Journal of Medical Genetics Part A. 191, 2, p. 479-489 11 p.

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

  Open Access

• Hereditary leiomyomatosis and renal cell cancer in families referred for fumarate hydratase germline mutation analysis

  Smit, D. L., Mensenkamp, A. R., Badeloe, S., Breuning, M. H., Simon, M. E. H., van Spaendonck-Zwarts, K. Y., Aalfs, C. M., Post, J. G., Shanley, S., Krapels, I. P. C., Hoefsloot, L. H., van Moorselaar, R. J. A., Starink, T. M., Bayley, J-P., Frank, J., van Steensel, M. A. M. & Menko, F. H., Jan 2011, In: Clinical Genetics. 79, 1, p. 49-59

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

• Heritable Connective Tissue Disorders in Childhood: Increased Fatigue, Pain, Disability and Decreased General Health

  Warnink-Kavelaars, J., de Koning, L. E., Rombaut, L., Alsem, M. W., Menke, L. A., Oosterlaan, J., Buizer, A. I., Engelbert, R. H. H., Baars, M. J. H., de Boer, R., Braam, K., Dulfer, E., Hilhorst-Hofstee, Y., Kempers, M. J. E., Krapels, I. P. C., Loeys, B. L., van der Looven, R., Malfait, F., van Rossum, M. A. J., Stoelinga, F., & 1 othersPediatric Heritable Connective Tissue Disorders Study Group, 1 Jun 2021, In: Genes. 12, 6, 12 p., 831.

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

  Open Access

• 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

• Implications of Genetic Testing in Dilated Cardiomyopathy

  Verdonschot, J. A. J., Hazebroek, M. R., Krapels, I. P. C., Henkens, M. T. H. M., Raafs, A., Wang, P., Merken, J. J., Claes, G. R. F., Vanhoutte, E. K., van den Wijngaard, A., Heymans, S. R. B. & Brunner, H. G., Oct 2020, In: Circulation: Genomic and Precision Medicine. 13, 5, p. 476-487 12 p., 003031.

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

  Open Access

• Improving diagnosis and risk stratification across the ejection fraction spectrum: the Maastricht Cardiomyopathy registry

  Henkens, M. T. H. M., Weerts, J., Verdonschot, J. A. J., Raafs, A. G., Stroeks, S., Sikking, M. A., Amin, H., Mourmans, S. G. J., Geraeds, C. B. G., Sanders-van Wijk, S., Aizpurua, A. B., Uszko-Lencer, N. H. M. K., Krapels, I. P. C., Wolffs, P. F. G., Brunner, H. G., Leeuwen, R. E. W., Verhesen, W., Schalla, S. M., van Stipdonk, A. W. M., Knackstedt, C., & 8 othersLi, X. F., Hamid, M. A. A., van Paassen, P., Hazebroek, M. R., Vernooy, K., Brunner-La Rocca, H. P., van Empel, V. P. M. & Heymans, S. R. B., Apr 2022, In: Esc heart failure. 9, 2, p. 1463-1470 8 p.

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

  Open Access

• Left Atrial Function in Patients with Titin Cardiomyopathy

  HENKENS, MICHIEL. T. H. M., RAAFS, ANNE. G., VANLOON, T. I. M., 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., Jan 2024, In: Journal of Cardiac Failure. 30, 1, p. 51-60 10 p.

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

  Open Access

• Metabolic Profiling Associates with Disease Severity in Nonischemic Dilated Cardiomyopathy

  Verdonschot, J. A. J., Wang, P., Van Bilsen, M., Hazebroek, M. R., Merken, J. J., Vanhoutte, E. K., Henkens, M. T. H. M., Van Den Wijngaard, A., Glatz, J. F. C., Krapels, I. P. C., Brunner, H. G., Heymans, S. R. B. & Bierau, J., Mar 2020, In: Journal of Cardiac Failure. 26, 3, p. 212-222 11 p.

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

  Open Access

• Mutations in PDLIM5 are rare in dilated cardiomyopathy but are emerging as potential disease modifiers

  Verdonschot, J. A. J., Robinson, E. L., James, K. N., Mohamed, M. W., Claes, G. R. F., Casas, K., Vanhoutte, E. K., Hazebroek, M. R., Kringlen, G., Pasierb, M. M., van den Wijngaard, A., Glatz, J. F. C., Heymans, S. R. B., Krapels, I. P. C., Nahas, S., Brunner, H. G. & Szklarczyk, R., 8 Feb 2020, In: Molecular genetics & genomic medicine. 8, 2, 14 p., e1049.

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

  Open Access

• Mutations in PIEZO2 Cause Gordon Syndrome, Marden-Walker Syndrome, and Distal Arthrogryposis Type 5

  University of Washington Center for Mendelian Genomics, 1 May 2014, In: American Journal of Human Genetics. 94, 5, p. 734-744

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

  Open Access

• NGS panel analysis in 24 ectopia lentis patients; a clinically relevant test with a high diagnostic yield

  Overwater, E., Floor, K., van Beek, D., de Boer, K., van Dijk, T., Hilhorst-Hofstee, Y., Hoogeboom, A. J. M., van Kaam, K. J., van de Kamp, J. M., Kempers, M., Krapels, I. P. C., Kroes, H. Y., Loeys, B., Salemink, S., Stumpel, C. T. R. M., Verhoeven, V. J. M., Wijnands-van den Berg, E., Cobben, J. M., van Tintelen, J. P., Weiss, M. M., & 2 othersHouweling, A. C. & Maugeri, A., Sept 2017, In: European Journal of Medical Genetics. 60, 9, p. 465-473 9 p.

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

• Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic Service

  Westra, D., Schouten, M. I., Stunnenberg, B. C., Kusters, B., Saris, C. G. J., Erasmus, C. E., van Engelen, B. G., Bulk, S., Verschuuren-Bemelmans, C. C., Gerkes, E. H., de Geus, C., van der Zwaag, P. A., Chan, S., Chung, B., Barge-Schaapveld, D. Q. C. M., Kriek, M., Sznajer, Y., van Spaendonck-Zwarts, K., van der Kooi, A. J., Krause, A., & 13 othersSchönewolf-Greulich, B., de Die-Smulders, C., Sallevelt, S. C. E. H., Krapels, I. P. C., Rasmussen, M., Maystadt, I., Kievit, A. J. A., Witting, N., Pennings, M., Meijer, R., Gillissen, C., Kamsteeg, E-J. & Voermans, N. C., 2019, In: Journal of neuromuscular diseases. 6, 2, p. 241-258 18 p.

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

• Pathogenic variants inTNRC6Bcause a genetic disorder characterised by developmental delay/intellectual disability and a spectrum of neurobehavioural phenotypes including autism and ADHD

  Granadillo, J. L., Stegmann, A. P. A., Guo, H., Xia, K., Angle, B., Bontempo, K., Ranells, J. D., Newkirk, P., Costin, C., Viront, J., Stumpel, C. T., Sinnema, M., Panis, B., Pfundt, R., Krapels, I. P. C., Klaassens, M., Nicolai, J., Li, J. L., Jiang, Y. W., Marco, E., & 15 othersCanton, A., Latronico, A. C., Montenegro, L., Leheup, B., Bonnet, C., Amudhavalli, S. M., Lawson, C. E., McWalter, K., Telegrafi, A., Pearson, R., Kvarnung, M., Wang, X., Bi, W. M., Rosenfeld, J. A. & Shinawi, M., 1 Oct 2020, In: Journal of Medical Genetics. 57, 10, p. 717-724 8 p.

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

• Phenotypic clustering of dilated cardiomyopathy patients highlights important pathophysiological differences

  Verdonschot, J. A. J., Merlo, M., Dominguez, F., Wang, P., Henkens, M. T. H. M., Adriaens, M. E., Hazebroek, M. R., Mase, M., Escobar, L. E., Cobas-Paz, R., Derks, K. W. J., van den Wijngaard, A., Krapels, I. P. C., Brunner, H. G., Sinagra, G., Garcia-Pavia, P. & Heymans, S. R. B., 7 Jan 2021, In: European Heart Journal. 42, 2, p. 162-174 14 p.

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

  Open Access

• Prevalence and Clinical Consequences of Multiple Pathogenic Variants in Dilated Cardiomyopathy

  Stroeks, S. L. V. M., Lunde, I. G. G., Hellebrekers, D. M. E. I., Claes, G. R. F., Wakimoto, H., Gorham, J., Krapels, I. P. C., Vanhoutte, E. K. K., van den Wijngaard, A., Henkens, M. T. H. M., Raafs, A. G. G., Sikking, M. A. A., Broers, J. L. V., Nabben, M., Jones, E. A. V., Heymans, S. R. B., Brunner, H. G. G. & Verdonschot, J. A. J., 1 Apr 2023, In: Circulation: Genomic and Precision Medicine. 16, 2, 12 p., e003788.

  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

• Rare novel variants in the ZIC3 gene cause X-linked heterotaxy

  Paulussen, A. D. C., Steyls, A., Vanoevelen, J., van Tienen, F. H. J., Krapels, I. P. C., Claes, G. R. F., Chocron, S., Velter, C., Tan-Sindhunata, G. M., Lundin, C., Valenzuela, I., Nagy, B., Bache, I., Maroun, L. L., Avela, K., Brunner, H. G., Smeets, H. J. M., Bakkers, J. & van den Wijngaard, A., Dec 2016, In: European Journal of Human Genetics. 24, 12, p. 1783-1791

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

  Open Access

• Results of next-generation sequencing gene panel diagnostics including copy-number variation analysis in 810 patients suspected of heritable thoracic aortic disorders

  Overwater, E., Marsili, L., Baars, M. J. H., Baas, A. F., van de Beek, I., Dulfer, E., van Hagen, J. M., Hilhorst-Hofstee, Y., Kempers, M., Krapels, I. P., Menke, L. A., Verhagen, J. M. A., Yeung, K. K., Zwijnenburg, P. J. G., Groenink, M., van Rijn, P., Weiss, M. M., Voorhoeve, E., van Tintelen, J. P., Houweling, A. C., & 1 othersMaugeri, A., 1 Sept 2018, In: Human Mutation. 39, 9, p. 1173-1192 20 p.

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

  Open Access

• The clinical-phenotype continuum in DYNC1H1-related disorders-genomic profiling and proposal for a novel classification

  Becker, L-L., Dafsari, H. S., Schallner, J., Abdin, D., Seifert, M., Petit, F., Smol, T., Bok, L., Rodan, L., Krapels, I., Spranger, S., Weschke, B., Johnson, K., Straub, V., Kaindl, A. M., Di Donato, N., von der Hagen, M. & Cirak, S., Nov 2020, In: Journal of Human Genetics. 65, 11, p. 1003-1017 15 p.

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

  Open Access

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

  Verheul, L. M., van der Ree, M. H., Groeneveld, S. A., Mulder, B. A., Christiaans, I., Kapel, G. F. L., Alings, M., Bootsma, M., Barge-Schaapveld, D. Q. C. M., Balt, J. C., Yap, S-C., Krapels, I. P. C., Ter Bekke, R. M. A., Volders, P. G. A., van der Crabben, S. N., Postema, P. G., Wilde, A. A. M., Dooijes, D., Baas, A. F. & Hassink, R. J., 2 Nov 2023, In: EP Europace. 25, 11, 11 p., euad336.

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

  Open Access

• The Maastricht Acquisition Platform for Studying Mechanisms of Cell-Matrix Crosstalk (MAPEX): An Interdisciplinary and Systems Approach towards Understanding Thoracic Aortic Disease

  Ganizada, B. H., Reesink, K. D., Parikh, S., Ramaekers, M. J. F. G., Akbulut, A. C., Saraber, P. J. M. H., Debeij, G. P., Jaminon, A. M., Natour, E., Lorusso, R., Wildberger, J. E., Mees, B., Schurink, G. W., Jacobs, M. J., Cleutjens, J., Krapels, I., Gombert, A., Maessen, J. G., Accord, R., Delhaas, T., & 4 othersSchalla, S., Schurgers, L. J., Bidar, E. & MUMC TAA Student Team, 1 Aug 2023, In: Biomedicines. 11, 8, 18 p., 2095.

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• Titin cardiomyopathy leads to altered mitochondrial energetics, increased fibrosis and long-termlife-threatening arrhythmias

  Verdonschot, J. A. J., Hazebroek, M. R., Derks, K. W. J., Aizpurua, A. B., Merken, J. J., Wang, P., Bierau, J., van den Wijngaard, A., Schalla, S. M., Hamid, M. A. A., van Bilsen, M., van Empel, V. P. M., Knackstedt, C., Brunner-La Rocca, H-P., Brunner, H. G., Krapels, I. P. C. & Heymans, S. R. B., 7 Mar 2018, In: European Heart Journal. 39, 10, p. 864-873 10 p.

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• Value of Speckle Tracking-Based Deformation Analysis in Screening Relatives of Patients With Asymptomatic Dilated Cardiomyopathy

  Verdonschot, J. A. J., Merken, J. J., Brunner-La Rocca, H-P., Hazebroek, M. R., Eurlings, C. G. M. J., Thijssen, E., Wang, P., Weerts, J., van Empel, V., Schummers, G., Schreckenberg, M., van den Wijngaard, A., Lumens, J., Brunner, H. G., Heymans, S. R. B., Krapels, I. P. C. & Knackstedt, C., Feb 2020, In: JACC-Cardiovascular Imaging. 13, 2, p. 549-558 10 p.

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