Ronald H. Lekanne Dit Deprez

Research output

Research output per year 1997 2003 2010 2011 2013 2014 2015 2019 2021 2022

• 54 Article*
• 5 Editorial*
• 3 Review article*
• 2 Chapter*
• 3 More
  • 2 Comment/Letter to the editor*
  • 1 Letter*

Research output per year

Research output per year

Search results

• 2022

  Beneficial Effects of Cardiomyopathy-Associated Genetic Variants on Physical Performance: A Hypothesis-Generating Scoping Review

  Verwijs, S. M., Pinto, Y. M., Kuster, D. W. D., van der Velden, J., Limpens, J., van Hattum, J. C., van der Crabben, S. N., Lekanne Deprez, R. H., Wilde, A. A. M. & Jørstad, H. T., 1 Jan 2022, In: Cardiology. 147, 1, p. 90-97 8 p.

  Research output: Contribution to journal › Review article* › Academic › peer-review

  Open Access
• 2021

  BIO FOr CARE: biomarkers of hypertrophic cardiomyopathy development and progression in carriers of Dutch founder truncating MYBPC3 variants—design and status

  Jansen, M., Christiaans, I., van der Crabben, S. N., Michels, M., Huurman, R., Hoedemaekers, Y. M., Dooijes, D., Jongbloed, J. D. H., Boven, L. G., Lekanne Deprez, R. H., Wilde, A. A. M., Jans, J. J. M., van der Velden, J., de Boer, R. A., van Tintelen, J. P., Asselbergs, F. W. & Baas, A. F., Jun 2021, In: Netherlands Heart Journal. 29, 6, p. 318-329 12 p.

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

  Open Access

• Case series, chemotherapy-induced cardiomyopathy: Mind the family history!

  Moghadasi, S., Fijn, R., Beeres, S. L. M. A., Bikker, H., Jongbloed, J. D. H., Josephus Jitta, D., Kroep, J. R., Lekanne Deprez, R. H., Vos, Y. J., de Vreede, M. J. M., Antoni, M. L. & Barge-Schaapveld, D. Q. C. M., 1 Oct 2021, In: European Heart Journal - Case Reports. 5, 10, ytab333.

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

  Open Access

• Evidence-Based Assessment of Genes in Dilated Cardiomyopathy

  Jordan, E., Peterson, L., Ai, T., Asatryan, B., Bronicki, L., Brown, E., Celeghin, R., Edwards, M., Fan, J., Ingles, J., James, C. A., Jarinova, O., Johnson, R., Judge, D. P., Lahrouchi, N., Lekanne Deprez, R. H., Lumbers, R. T., Mazzarotto, F., Medeiros Domingo, A., Miller, R. L. & 14 others, Morales, A., Murray, B., Peters, S., Pilichou, K., Protonotarios, A., Semsarian, C., Shah, P., Syrris, P., Thaxton, C., van Tintelen, J. P., Walsh, R., Wang, J., Ware, J. & Hershberger, R. E., Jul 2021, In: Circulation. 144, 1, p. 7-19 13 p.

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

  Open Access

• International Evidence Based Reappraisal of Genes Associated with Arrhythmogenic Right Ventricular Cardiomyopathy Using the Clinical Genome Resource Framework

  James, C. A., Jongbloed, J. D. H., Hershberger, R. E., Morales, A., Judge, D. P., Syrris, P., Pilichou, K., Domingo, A. M., Murray, B., Cadrin-Tourigny, J., Lekanne Deprez, R., Celeghin, R., Protonotarios, A., Asatryan, B., Brown, E., Jordan, E., McGlaughon, J., Thaxton, C., Kurtz, C. L. & van Tintelen, J. P., Jun 2021, In: Circulation: Genomic and Precision Medicine. 14, 3, p. 273-284 12 p., e003273.

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

  Open Access

• Terminal osseous dysplasia with pigmentary defects and cardiomyopathy caused by a novel FLNA variant

  Rumping, L., Wessels, M. W., Postma, A. V., van Schuppen, J., van Slegtenhorst, M. A., Saris, J. J., van Tintelen, J. P., Robertson, S. P., Alders, M., Maas, S. M. & Deprez, R. H. L., Dec 2021, In: American Journal of Medical Genetics. Part A. 185, 12, p. 3814-3820 7 p.

  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., Helderman-van den Enden, A. T. J. M., Hoeijmakers, J. G. J., Hellebrekers, D. M. E. I., de Haan, A., Christiaans, I., Lekanne Deprez, R. H., Boen, H. M., van Craenenbroeck, E. M., Loeys, B. L., Hoedemaekers, Y. M., Marcelis, C., Kempers, M., Brusse, E., van Waning, J. I., Baas, A. F., Dooijes, D., Asselbergs, F. W. & 6 others, Barge-Schaapveld, D. Q. C. M., Koopman, P., van den Wijngaard, A., Heymans, S. R. B., Krapels, I. P. C. & Brunner, H. G., 1 Jun 2020, In: Human mutation. 41, 6, p. 1091-1111 21 p.

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

  Open Access

• Publisher Correction: Relevance of Titin Missense and Non-Frameshifting Insertions/Deletions Variants in Dilated Cardiomyopathy (Scientific Reports, (2019), 9, 1, (4093), 10.1038/s41598-019-39911-x)

  Akinrinade, O., Heliö, T., Lekanne Deprez, R. H., Jongbloed, J. D. H., Boven, L. G., van den Berg, M. P., Pinto, Y. M., Alastalo, T-P., Myllykangas, S., van Spaendonck-Zwarts, K., van Tintelen, J. P., van der Zwaag, P. A. & Koskenvuo, J., 1 Dec 2020, In: Scientific reports. 10, 1, 17264.

  Research output: Contribution to journal › Comment/Letter to the editor* › Academic

  Open Access
• 2019

  Arrhythmogenic Right Ventricular Cardiomyopathy-Associated Desmosomal Variants Are Rarely De Novo

  van Lint, F. H. M., Murray, B., Tichnell, C., Zwart, R., Amat, N., Lekanne Deprez, R. H., Dittmann, S., Stallmeyer, B., Calkins, H., van der Smagt, J. J., van den Wijngaard, A., Dooijes, D., van der Zwaag, P. A., Schulze-Bahr, E., Judge, D. P., Jongbloed, J. D. H., van Tintelen, J. P. & James, C. A., 2019, In: Circulation. Genomic and precision medicine. 12, 8, p. e002467

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

  Open Access

• Dutch genome diagnostic laboratories accelerated and improved variant interpretation and increased accuracy by sharing data

  Fokkema, I. F. A. C., van der Velde, K. J., Slofstra, M. K., Ruivenkamp, C. A. L., Vogel, M. J., Pfundt, R., Blok, M. J., Lekanne Deprez, R. H., Waisfisz, Q., Abbott, K. M., Sinke, R. J., Rahman, R., Nijman, I. J., de Koning, B., Thijs, G., Wieskamp, N., Moritz, R. J. G., Charbon, B., Saris, J. J., den Dunnen, J. T. & 3 others, Laros, J. F. J., Swertz, M. A. & van Gijn, M. E., 1 Dec 2019, In: Human mutation. 40, 12, p. 2230-2238 9 p.

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

  Open Access

• Large next-generation sequencing gene panels in genetic heart disease: challenges in clinical practice

  Christiaans, I., Mook, O. R. F., Alders, M., Bikker, H. & Lekanne dit Deprez, R. H., 2019, In: Netherlands Heart Journal. 27, 6, p. 299-303

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

  Open Access

• Large next-generation sequencing gene panels in genetic heart disease: yield of pathogenic variants and variants of unknown significance

  van Lint, F. H. M., Mook, O. R. F., Alders, M., Bikker, H., Lekanne dit Deprez, R. H. & Christiaans, I., 1 Jun 2019, In: Netherlands Heart Journal. 27, 6, p. 304-309

  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., Lekanne Deprez, R. H., 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., Peter van Tintelen, J., van den Berg, M. P., Wilde, A. A. M., Ploos van Amstel, H. K., Hennekam, E. A. M., Asselbergs, F. W. & 2 others, Sijbrands, E. J. G. & Dooijes, D., 1 May 2019, In: Circulation. Genomic and precision medicine. 12, 5, p. e002436

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

• Relevance of Titin Missense and Non-Frameshifting Insertions/Deletions Variants in Dilated Cardiomyopathy

  Akinrinade, O., Heliö, T., Lekanne Deprez, R. H., Jongbloed, J. D. H., Boven, L. G., van den Berg, M. P., Pinto, Y. M., Alastalo, T-P., Myllykangas, S., Spaendonck-Zwarts, K. V., Tintelen, J. P. V., van der Zwaag, P. A. & Koskenvuo, J., 2019, In: Scientific reports. 9, 1, 4093.

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

  Open Access
• 2018

  Genetics, Clinical Features, and Long-Term Outcome of Noncompaction Cardiomyopathy

  van Waning, J. I., Caliskan, K., Hoedemaekers, Y. M., van Spaendonck-Zwarts, K. Y., Baas, A. F., Boekholdt, S. M., van Melle, J. P., Teske, A. J., Asselbergs, F. W., Backx, A. P. C. M., du Marchie Sarvaas, G. J., Dalinghaus, M., Breur, J. M. P. J., Linschoten, M. P. M., Verlooij, L. A., Kardys, I., Dooijes, D., Lekanne Deprez, R. H., IJpma, A. S., van den Berg, M. P. & 4 others, Hofstra, R. M. W., van Slegtenhorst, M. A., Jongbloed, J. D. H. & Majoor-Krakauer, D., 2018, In: Journal of the American College of Cardiology. 71, 7, p. 711-722

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

• 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 Thüsen, J. H., Brosens, E., Christiaans, I., Dooijes, D., Helderman-van den Enden, A. T. J. M., Lekanne Deprez, R. H., 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., 2018, In: European journal of human genetics. 26, 11, p. 1603-1610

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

  Open Access

• The first titin (c.59926 + 1G > A) founder mutation associated with dilated cardiomyopathy

  Hoorntje, E. T., van Spaendonck-Zwarts, K. Y., Te Rijdt, W. P., Boven, L., Vink, A., van der Smagt, J. J., Asselbergs, F. W., van Wijngaarden, J., Hennekam, E. A., Pinto, Y. M., Lekanne Deprez, R. H., Barge-Schaapveld, D. Q. C. M., Bootsma, M., Regieli, J., Hoedemaekers, Y. M., Jongbloed, J. D. H., van den Berg, M. P. & van Tintelen, J. P., 1 Apr 2018, In: European journal of heart failure. 20, 4, p. 803-806 4 p.

  Research output: Contribution to journal › Letter* › Academic › peer-review
• 2017

  A Dutch MYH7 founder mutation, p.(Asn1918Lys), is associated with early onset cardiomyopathy and congenital heart defects

  van der Linde, I. H. M., Hiemstra, Y. L., Bökenkamp, R., van Mil, A. M., Breuning, M. H., Ruivenkamp, C., ten Broeke, S. W., Veldkamp, R. F., van Waning, J. I., van Slegtenhorst, M. A., van Spaendonck-Zwarts, K. Y., Lekanne Deprez, R. H., Herkert, J. C., Boven, L., van der Zwaag, P. A., Jongbloed, J. D. H., Bootsma, M. & Barge-Schaapveld, D. Q. C. M., 2017, In: Netherlands Heart Journal. 25, 12, p. 675-681

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

• Truncating titin mutations are associated with a mild and treatable form of dilated cardiomyopathy

  Jansweijer, J. A., Nieuwhof, K., Russo, F., Hoorntje, E. T., Jongbloed, J. D. H., Lekanne Deprez, R. H., Postma, A. V., Bronk, M., van Rijsingen, I. A. W., de Haij, S., Biagini, E., van Haelst, P. L., van Wijngaarden, J., van den Berg, M. P., Wilde, A. A. M., Mannens, M. M. A. M., de Boer, R. A., van Spaendonck-Zwarts, K. Y., van Tintelen, J. P. & Pinto, Y. M., 1 Apr 2017, In: European journal of heart failure. 19, 4, p. 512-521 10 p.

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

• Yield and pitfalls of ajmaline testing in the evaluation of unexplained cardiac arrest and sudden unexplained death: Single centre experience of 482 families.

  Tadros, R., Nannenberg, E. A., Lieve, K. V., Skoric-Milosavljevic, D., Lahrouchi, N., Lekanne Dit Deprez, R. H., Vendrik, J., Reckman, Y. J., Postema, P. G., Amin, A. S., Bezzina, C. R., Wilde, A. A. M. & Tan, H. L., 2017, In: Journal of the American College of Cardiology Clinical Electrophysiology. 3, 12, p. 1400-1408

  Research output: Contribution to journal › Article* › Academic › peer-review
• 2015

  Atlas of the clinical genetics of human dilated cardiomyopathy

  Haas, J., Frese, K. S., Peil, B., Kloos, W., Keller, A., Nietsch, R., Feng, Z., Müller, S., Kayvanpour, E., Vogel, B., Sedaghat-Hamedani, F., Lim, W-K., Zhao, X., Fradkin, D., Köhler, D., Fischer, S., Franke, J., Marquart, S., Barb, I., Li, D. T. & 40 others, Amr, A., Ehlermann, P., Mereles, D., Weis, T., Hassel, S., Kremer, A., King, V., Wirsz, E., Isnard, R., Komajda, M., Serio, A., Grasso, M., Syrris, P., Wicks, E., Plagnol, V., Lopes, L., Gadgaard, T., Eiskjær, H., Jørgensen, M., Garcia-Giustiniani, D., Ortiz-Genga, M., Crespo-Leiro, M. G., Deprez, R. H. L. D., Christiaans, I., van Rijsingen, I. A., Wilde, A. A., Waldenstrom, A., Bolognesi, M., Bellazzi, R., Mörner, S., Bermejo, J. L., Monserrat, L., Villard, E., Mogensen, J., Pinto, Y. M., Charron, P., Elliott, P., Arbustini, E., Katus, H. A. & Meder, B., 2015, In: European heart journal. 36, 18, p. 1123-135a

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

• Diagnostic dilemmas in Fabry disease: a case series study on GLA mutations of unknown clinical significance

  Smid, B. E., Hollak, C. E. M., Poorthuis, B. J. H. M., van den Bergh Weerman, M. A., Florquin, S., Kok, W. E. M., Lekanne Deprez, R. H., Timmermans, J. & Linthorst, G. E., 2015, In: Clinical genetics. 88, 2, p. 161-166

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

• Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects

  Vrijenhoek, T., Kraaijeveld, K., Elferink, M., de Ligt, J., Kranendonk, E., Santen, G., Nijman, I. J., Butler, D., Claes, G., Costessi, A., Dorlijn, W., van Eyndhoven, W., Halley, D. J. J., van den Hout, M. C. G. N., van Hove, S., Johansson, L. F., Jongbloed, J. D. H., Kamps, R., Kockx, C. E. M., de Koning, B. & 29 others, Kriek, M., Lekanne Dit Deprez, R., Lunstroo, H., Mannens, M., Mook, O. R., Nelen, M., Ploem, C., Rijnen, M., Saris, J. J., Sinke, R., Sistermans, E., van Slegtenhorst, M., Sleutels, F., van der Stoep, N., van Tienhoven, M., Vermaat, M., Vogel, M., Waisfisz, Q., Marjan Weiss, J., van den Wijngaard, A., van Workum, W., Ijntema, H., van der Zwaag, B., van Ijcken, W. F. J., den Dunnen, J., Veltman, J. A., Hennekam, R., Cuppen, E. & Weiss, M. M., 2015, In: European journal of human genetics. 23, 9, p. 1142-1150

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

• Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects (vol 23, pg 1142, 2015)

  Vrijenhoek, T., Kraaijeveld, K., Elferink, M., de Ligt, J., Kranendonk, E., Santen, G., Nijman, I. J., Butler, D., Claes, G., Costessi, A., Dorlijn, W., van Eyndhoven, W., Halley, D. J. J., van den Hout, M. C. G. N., van Hove, S., Johansson, L. F., Jongbloed, J. D. H., Kamps, R., Kockx, C. E. M., de Koning, B. & 28 others, Kriek, M., Deprez, R. L. D., Lunstroo, H., Mannens, M., Mook, O. R., Nelen, M., Ploem, C., Rijnen, M., Saris, J. J., Sinke, R., Sistermans, E., van Slegtenhorst, M., Sleutels, F., van der Stoep, N., van Tienhoven, M., Vermaat, M., Vogel, M., Waisfisz, Q., Weiss, J. M., van den Wijngaard, A., van Workum, W., Ijntema, H., van der Zwaag, B., van IJcken, W. F. J., den Dunnen, J. T., Veltman, J. A., Hennekam, R. & Cuppen, E., Sep 2015, In: European journal of human genetics. 23, 9, p. 1270-1270

  Research output: Contribution to journal › Article* › Academic › peer-review
• 2014

  A systematic review on screening for Fabry disease: prevalence of individuals with genetic variants of unknown significance

  van der Tol, L., Smid, B. E., Poorthuis, B. J. H. M., Biegstraaten, M., Deprez, R. H. L., Linthorst, G. E. & Hollak, C. E. M., 2014, In: Journal of Medical Genetics. 51, 1, p. 1-9

  Research output: Contribution to journal › Review article* › Academic › peer-review

• Outcome in phospholamban R14del carriers: results of a large multicentre cohort study

  van Rijsingen, I. A. W., van der Zwaag, P. A., Groeneweg, J. A., Nannenberg, E. A., Jongbloed, J. D. H., Zwinderman, A. H., Pinto, Y. M., Dit Deprez, R. H. L., Post, J. G., Tan, H. L., de Boer, R. A., Hauer, R. N. W., Christiaans, I., van den Berg, M. P., van Tintelen, J. P. & Wilde, A. A. M., 2014, In: Circulation. Cardiovascular genetics. 7, 4, p. 455-465

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

• Recurrent and founder mutations in the Netherlands: Cardiac Troponin i (TNNI3) gene mutations as a cause of severe forms of hypertrophic and restrictive cardiomyopathy

  Van Den Wijngaard, A., Volders, P., Van Tintelen, J. P., Jongbloed, J. D. H., Van Den Berg, M. P., Lekanne Deprez, R. H., Mannens, M. M. A. M., Hofmann, N., Slegtenhorst, M., Dooijes, D., Michels, M., Arens, Y., Jongbloed, R. & Smeets, B. J. M., 1 Nov 2014, Founder Mutations in Inherited Cardiac Diseases in the Netherlands. Bohn Stafleu van Loghum, p. 43-50 8 p.

  Research output: Chapter in Book/Report/Conference proceeding › Chapter* › Academic › peer-review

• Uncertain diagnosis of Fabry disease: consensus recommendation on diagnosis in adults with left ventricular hypertrophy and genetic variants of unknown significance

  Smid, B. E., van der Tol, L., Cecchi, F., Elliott, P. M., Hughes, D. A., Linthorst, G. E., Timmermans, J., Weidemann, F., West, M. L., Biegstraaten, M., Lekanne Deprez, R. H., Florquin, S., Postema, P. G., Tomberli, B., van der Wal, A. C., van den Bergh Weerman, M. A. & Hollak, C. E., 2014, In: International Journal of Cardiology. 177, 2, p. 400-408

  Research output: Contribution to journal › Article* › Academic › peer-review
• 2013

  A novel alpha-tropomyosin mutation associates with dilated and non-compaction cardiomyopathy and diminishes actin binding

  van de Meerakker, J. B. A., Christiaans, I., Barnett, P., Lekanne Deprez, R. H., Ilgun, A., Mook, O. R. F., Mannens, M. M. A. M., Lam, J., Wilde, A. A. M., Moorman, A. F. M. & Postma, A. V., 2013, In: Biochimica et Biophysica Acta-Molecular Cell Research. 1833, 4, p. 833-839

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

• A novel lamin A/C mutation in a Dutch family with premature atherosclerosis

  Weterings, A. A. W., van Rijsingen, I. A. W., Plomp, A. S., Zwinderman, A. H., Lekanne Deprez, R. H., Mannens, M. M., van den Bergh Weerman, M. A., van der Wal, A. C. & Pinto-Sietsma, S. J., 2013, In: Atherosclerosis. 229, 1, p. 169-173

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

• Best practice guidelines for the use of next-generation sequencing applications in genome diagnostics: a national collaborative study of dutch genome diagnostic laboratories

  Weiss, M. M., van der Zwaag, B., Jongbloed, J. D. H., Vogel, M. J., Brüggenwirth, H. T., Lekanne Deprez, R. H., Mook, O., Ruivenkamp, C. A. L., van Slegtenhorst, M. A., van den Wijngaard, A., Waisfisz, Q., Nelen, M. R. & van der Stoep, N., 2013, In: Human mutation. 34, 10, p. 1313-1321

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

• Genetic analysis in 418 index patients with idiopathic dilated cardiomyopathy: overview of 10 years' experience

  van Spaendonck-Zwarts, K. Y., van Rijsingen, I. A. W., van den Berg, M. P., Lekanne Deprez, R. H., Post, J. G., van Mil, A. M., Asselbergs, F. W., Christiaans, I., van Langen, I. M., Wilde, A. A. M., de Boer, R. A., Jongbloed, J. D. H., Pinto, Y. M. & van Tintelen, J. P., 2013, In: European journal of heart failure. 15, 6, p. 628-636

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

• Lamin A/C mutation is independently associated with an increased risk of arterial and venous thromboembolic complications

  van Rijsingen, I. A. W., Bakker, A., Azim, D., Hermans-van Ast, J. F., van der Kooi, A. J., van Tintelen, J. P., van den Berg, M. P., Christiaans, I., Lekanne dit Deprez, R. H., Wilde, A. A. M., Zwinderman, A. H., Meijers, J. C. M., Grootemaat, A. E., Nieuwland, R., Pinto, Y. M. & Pinto-Sietsma, S-J., 2013, In: International Journal of Cardiology. 168, 1, p. 472-477

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

• Targeted sequence capture and GS-FLX Titanium sequencing of 23 hypertrophic and dilated cardiomyopathy genes: implementation into diagnostics

  Mook, O. R. F., Haagmans, M. A., Soucy, J-F., van de Meerakker, J. B. A., Baas, F., Jakobs, M. E., Hofman, N., Christiaans, I., Lekanne Deprez, R. H. & Mannens, M. M. A. M., 2013, In: Journal of Medical Genetics. 50, 9, p. 614-626

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

• Yield of molecular and clinical testing for arrhythmia syndromes: report of 15 years' experience

  Hofman, N., Tan, H. L., Alders, M., Kolder, I., de Haij, S., Mannens, M. M. A. M., Lombardi, M. P., Lekanne Deprez, R. H., van Langen, I. & Wilde, A. A. M., 2013, In: Circulation. 128, 14, p. 1513-1521

  Research output: Contribution to journal › Article* › Academic › peer-review
• 2012

  Phospholamban R14del mutation in patients diagnosed with dilated cardiomyopathy or arrhythmogenic right ventricular cardiomyopathy: evidence supporting the concept of arrhythmogenic cardiomyopathy

  van der Zwaag, P. A., van Rijsingen, I. A. W., Asimaki, A., Jongbloed, J. D. H., van Veldhuisen, D. J., Wiesfeld, A. C. P., Cox, M. G. P. J., van Lochem, L. T., de Boer, R. A., Hofstra, R. M. W., Christiaans, I., van Spaendonck-Zwarts, K. Y., Lekanne dit Deprez, R. H., Judge, D. P., Calkins, H., Suurmeijer, A. J. H., Hauer, R. N. W., Saffitz, J. E., Wilde, A. A. M., van den Berg, M. P. & 1 others, van Tintelen, J. P., 2012, In: European journal of heart failure. 14, 11, p. 1199-1207

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

• The role of renin-angiotensin-aldosterone system polymorphisms in phenotypic expression of MYBPC3-related hypertrophic cardiomyopathy

  Kolder, I. C. R. M., Michels, M., Christiaans, I., ten Cate, F. J., Majoor-Krakauer, D., Danser, A. H. J., Lekanne Deprez, R. H., Tanck, M. W. T., Wilde, A. A. M., Bezzina, C. R. & Dooijes, D., 2012, In: European journal of human genetics. 20, 10, p. 1071-1077

  Research output: Contribution to journal › Article* › Academic › peer-review
• 2011

  A complex double deletion in LMNA underlies progressive cardiac conduction disease, atrial arrhythmias, and sudden death

  Marsman, R. F., Bardai, A., Postma, A. V., Res, J. C. J., Koopmann, T. T., Beekman, L., van der Wal, A. C., Pinto, Y. M., Lekanne Deprez, R. H., Wilde, A. A. M., Jordaens, L. J. & Bezzina, C. R., 2011, In: Circulation. Cardiovascular genetics. 4, 3, p. 280-287

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

• A novel autosomal dominant condition consisting of congenital heart defects and low atrial rhythm maps to chromosome 9q

  Van De Meerakker, J. B. A., Van Engelen, K., Mathijssen, I. B., Lekanne Dit Deprez, R. H., Lam, J., Wilde, A. A. M., Baars, M. J. H., Mannens, M. M. A. M., Mulder, B. J. M., Moorman, A. F. M. & Postma, A. V., Jul 2011, In: European journal of human genetics. 19, 7, p. 820-826 7 p.

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

• Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14)

  Pinto, Y. M., Wilde, A. A. A. M., van Rijsingen, I. A. W., Christiaans, I., Deprez, R. H. L. & Elliott, P. M., 2011, In: European journal of human genetics. 19, 8, p. 10.1038/ejhg.2010.24

  Research output: Contribution to journal › Editorial* › Academic › peer-review

• Early cerebral manifestations in a young female with Fabry disease with skewed X-inactivation

  Bouwman, M. G., Rombach, S. M., Linthorst, G. E., Poorthuis, B. J. H. M., Deprez, R. H. L., Aerts, J. M. F. G. & Wijburg, F. A., 2011, In: Clinical genetics. 80, 5, p. 500-502

  Research output: Contribution to journal › Comment/Letter to the editor* › Academic

• Recurrent and founder mutations in the Netherlands: cardiac Troponin I (TNNI3) gene mutations as a cause of severe forms of hypertrophic and restrictive cardiomyopathy

  van den Wijngaard, A., Volders, P., van Tintelen, J. P., Jongbloed, J. D. H., van den Berg, M. P., Lekanne Deprez, R. H., Mannens, M. M. A. M., Hofmann, N., Slegtenhorst, M., Dooijes, D., Michels, M., Arens, Y., Jongbloed, R. & Smeets, B. J. M., 2011, In: Netherlands Heart Journal. 19, 7-8, p. 344-351

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

  ABCB4 deficiency: A family saga of early onset cholelithiasis, sclerosing cholangitis and cirrhosis and a novel mutation in the ABCB4 gene

  Denk, G. U., Bikker, H., Lekanne dit Deprez, R. H., Terpstra, V., van der Loos, C., Beuers, U., Rust, C. & Pusl, T., 2010, In: Hepatology Research. 40, 9, p. 937-941

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

• Genetic diagnostics and genetic counselling in Hypertrophic Cardiomyopathy (HCM)

  van Langen, I. M., Arens, Y., Baars, H., Bokenkamp, R., Delhaas, T., Dooijes, D., Lekanne Deprez, R. H., Majoor-Krakauer, D., ten Cate, F. J., Michels, M., van Mil, A., Pinto, Y., Schiphorst, A., van der Smagt, J. J. & van Tintelen, J. P., 2010, In: Netherlands Heart Journal. 18, 3, p. 144-+

  Research output: Contribution to journal › Editorial* › Academic › peer-review

• Novel tools for extraction and validation of disease-related mutations applied to fabry disease

  Kuipers, R., van den Bergh, T., Joosten, H-J., Lekanne dit Deprez, R. H., Mannens, M. M. A. M. & Schaap, P. J., 2010, In: Human mutation. 31, 9, p. 1026-1032

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

• Recurrent and founder mutations in the Netherlands: mutation p.K217del in troponin T2, causing dilated cardiomyopathy

  Otten, E., Lekanne dit Deprez, R. H., Weiss, M. M., van Slegtenhorst, M., Joosten, M., van der Smagt, J. J., de Jonge, N., Kerstjens-Frederikse, W. S., Roofthooft, M. T. R., Balk, A. H. M. M., van den Berg, M. P., Ruiter, J. S. & van Tintelen, J. P., 2010, In: Netherlands Heart Journal. 18, 10, p. 478-485

  Research output: Contribution to journal › Article* › Academic › peer-review
• 2009

  Ventricular fibrillation in MYH7-related hypertrophic cardiomyopathy before onset of ventricular hypertrophy

  Christiaans, I., Lekanne dit Deprez, R. H., van Langen, I. M. & Wilde, A. A. M., 2009, In: Heart rhythm. 6, 9, p. 1366-1369

  Research output: Contribution to journal › Article* › Academic › peer-review
• 2008

  A gain-of-function TBX5 mutation is associated with atypical Holt-Oram syndrome and paroxysmal atrial fibrillation

  Postma, A. V., van de Meerakker, J. B. A., Mathijssen, I. B., Barnett, P., Christoffels, V. M., Ilgun, A., Lam, J., Wilde, A. A. M., Lekanne Deprez, R. H. & Moorman, A. F. M., 2008, In: Circulation Research. 102, 11, p. 1433-1442

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

• Extension of the clinical spectrum of Danon disease

  van der Kooi, A. J., van Langen, I. M., Aronica, E., van Doorn, P. A., Wokke, J. H. J., Brusse, E., Langerhorst, C. T., Bergin, P., Dekker, L. R. C., Deprez, R. H. L. D. & de Visser, M., 2008, In: Neurology. 70, 16, p. 1358-1359

  Research output: Contribution to journal › Editorial* › Academic › peer-review
• 2007

  Gene symbol: GLA

  Spanu, C., Lekanne dit Deprez, R. H., Groener, J. E. M. & Nita, C. C., 2007, In: Human genetics. 121, 2, p. 295

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