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1. Penetrance and Prognosis of MYH7 Variant-Associated Cardiomyopathies: Results From a Dutch Multicenter Cohort Study

Author

Jansen, Mark, de Brouwer, Remco, Hassanzada, Fahima, Schoemaker, Angela E., Schmidt, Amand F., Kooijman-Reumerman, Maria D., Bracun, Valentina, Slieker, Martijn G., Dooijes, Dennis, Vermeer, Alexa M.C., Wilde, Arthur A.M., Amin, Ahmad S., Lekanne Deprez, Ronald H., Herkert, Johanna C., Christiaans, Imke, de Boer, Rudolf A., Jongbloed, Jan D.H., van Tintelen, J. Peter, Asselbergs, Folkert W., and Baas, Annette F.

Published
2024
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3. Individualized Family Screening for Arrhythmogenic Right Ventricular Cardiomyopathy

Author

Muller, Steven A., Gasperetti, Alessio, Bosman, Laurens P., Schmidt, Amand F., Baas, Annette F., Amin, Ahmad S., Houweling, Arjan C., Wilde, Arthur A.M., Compagnucci, Paolo, Targetti, Mattia, Casella, Michela, Calò, Leonardo, Tondo, Claudio, van der Harst, Pim, Asselbergs, Folkert W., van Tintelen, J. Peter, Oerlemans, Marish I.F.J., and te Riele, Anneline S.J.M.

Published
2023
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6. Vascular Ehlers-Danlos Syndrome: A Comprehensive Natural History Study in a Dutch National Cohort of 142 Patients

Author

Demirdas, Serwet, primary, van den Bersselaar, Lisa M., additional, Lechner, Rosan, additional, Bos, Jessica, additional, Alsters, Suzanne I.M., additional, Baars, Marieke J.H., additional, Baas, Annette F., additional, Baysal, Özlem, additional, van der Crabben, Saskia N., additional, Dulfer, Eelco, additional, Giesbertz, Noor A.A., additional, Helderman-van den Enden, Apollonia T.J.M., additional, Hilhorst-Hofstee, Yvonne, additional, Kempers, Marlies J.E., additional, Komdeur, Fenne L., additional, Loeys, Bart, additional, Majoor-Krakauer, Daniëlle, additional, Ockeloen, Charlotte W., additional, Overwater, Eline, additional, van Tintelen, Peter J., additional, Voorendt, Marsha, additional, de Waard, Vivian, additional, Maugeri, Alessandra, additional, Brüggenwirth, Hennie T., additional, van de Laar, Ingrid M.B.H., additional, and Houweling, Arjan C., additional

Published
2024
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8. Mitochondrial Cardiomyopathies

Author

Blank, Andreas C., Breur, Johannes M. P. J., Fuchs, Sabine A., Koop, Klaas, Baas, Annette F., Baars, Hubert F., editor, Doevendans, Pieter A. F. M., editor, Houweling, Arjan C., editor, and van Tintelen, J. Peter, editor

Published
2020
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9. Genotype-phenotype correlation in pseudoxanthoma elasticum

Author

Bartstra, Jonas W., Risseeuw, Sara, de Jong, Pim A., van Os, Bram, Kalsbeek, Lianne, Mol, Chris, Baas, Annette F., Verschuere, Shana, Vanakker, Olivier, Florijn, Ralph J., Hendrikse, Jeroen, Mali, Willem, Imhof, Saskia, Ossewaarde-van Norel, Jeannette, van Leeuwen, Redmer, and Spiering, Wilko

Published
2021
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10. Association Between Telomere Length and Risk of Cancer and Non-Neoplastic Diseases: A Mendelian Randomization Study

Author

Haycock, Philip C, Burgess, Stephen, Nounu, Aayah, Zheng, Jie, Okoli, George N, Bowden, Jack, Wade, Kaitlin Hazel, Timpson, Nicholas J, Evans, David M, Willeit, Peter, Aviv, Abraham, Gaunt, Tom R, Hemani, Gibran, Mangino, Massimo, Ellis, Hayley Patricia, Kurian, Kathreena M, Pooley, Karen A, Eeles, Rosalind A, Lee, Jeffrey E, Fang, Shenying, Chen, Wei V, Law, Matthew H, Bowdler, Lisa M, Iles, Mark M, Yang, Qiong, Worrall, Bradford B, Markus, Hugh Stephen, Hung, Rayjean J, Amos, Chris I, Spurdle, Amanda B, Thompson, Deborah J, O’Mara, Tracy A, Wolpin, Brian, Amundadottir, Laufey, Stolzenberg-Solomon, Rachael, Trichopoulou, Antonia, Onland-Moret, N Charlotte, Lund, Eiliv, Duell, Eric J, Canzian, Federico, Severi, Gianluca, Overvad, Kim, Gunter, Marc J, Tumino, Rosario, Svenson, Ulrika, van Rij, Andre, Baas, Annette F, Bown, Matthew J, Samani, Nilesh J, van t’Hof, Femke NG, Tromp, Gerard, Jones, Gregory T, Kuivaniemi, Helena, Elmore, James R, Johansson, Mattias, Mckay, James, Scelo, Ghislaine, Carreras-Torres, Robert, Gaborieau, Valerie, Brennan, Paul, Bracci, Paige M, Neale, Rachel E, Olson, Sara H, Gallinger, Steven, Li, Donghui, Petersen, Gloria M, Risch, Harvey A, Klein, Alison P, Han, Jiali, Abnet, Christian C, Freedman, Neal D, Taylor, Philip R, Maris, John M, Aben, Katja K, Kiemeney, Lambertus A, Vermeulen, Sita H, Wiencke, John K, Walsh, Kyle M, Wrensch, Margaret, Rice, Terri, Turnbull, Clare, Litchfield, Kevin, Paternoster, Lavinia, Standl, Marie, Abecasis, Gonçalo R, SanGiovanni, John Paul, Li, Yong, Mijatovic, Vladan, Sapkota, Yadav, Low, Siew-Kee, Zondervan, Krina T, Montgomery, Grant W, Nyholt, Dale R, van Heel, David A, Hunt, Karen, Arking, Dan E, Ashar, Foram N, Sotoodehnia, Nona, Woo, Daniel, and Rosand, Jonathan

Subjects
Biomedical and Clinical Sciences, Oncology and Carcinogenesis, Rare Diseases, Clinical Research, Cancer, Prevention, Genetics, Aetiology, 2.1 Biological and endogenous factors, Adult, Aged, Aged, 80 and over, Cardiovascular Diseases, Female, Genetic Predisposition to Disease, Genome-Wide Association Study, Germ-Line Mutation, Humans, Male, Mendelian Randomization Analysis, Middle Aged, Neoplasms, Polymorphism, Single Nucleotide, Risk Assessment, Telomere, Telomere Homeostasis, Telomeres Mendelian Randomization Collaboration, Public Health and Health Services, Oncology and carcinogenesis
Abstract

ImportanceThe causal direction and magnitude of the association between telomere length and incidence of cancer and non-neoplastic diseases is uncertain owing to the susceptibility of observational studies to confounding and reverse causation.ObjectiveTo conduct a Mendelian randomization study, using germline genetic variants as instrumental variables, to appraise the causal relevance of telomere length for risk of cancer and non-neoplastic diseases.Data sourcesGenomewide association studies (GWAS) published up to January 15, 2015.Study selectionGWAS of noncommunicable diseases that assayed germline genetic variation and did not select cohort or control participants on the basis of preexisting diseases. Of 163 GWAS of noncommunicable diseases identified, summary data from 103 were available.Data extraction and synthesisSummary association statistics for single nucleotide polymorphisms (SNPs) that are strongly associated with telomere length in the general population.Main outcomes and measuresOdds ratios (ORs) and 95% confidence intervals (CIs) for disease per standard deviation (SD) higher telomere length due to germline genetic variation.ResultsSummary data were available for 35 cancers and 48 non-neoplastic diseases, corresponding to 420 081 cases (median cases, 2526 per disease) and 1 093 105 controls (median, 6789 per disease). Increased telomere length due to germline genetic variation was generally associated with increased risk for site-specific cancers. The strongest associations (ORs [95% CIs] per 1-SD change in genetically increased telomere length) were observed for glioma, 5.27 (3.15-8.81); serous low-malignant-potential ovarian cancer, 4.35 (2.39-7.94); lung adenocarcinoma, 3.19 (2.40-4.22); neuroblastoma, 2.98 (1.92-4.62); bladder cancer, 2.19 (1.32-3.66); melanoma, 1.87 (1.55-2.26); testicular cancer, 1.76 (1.02-3.04); kidney cancer, 1.55 (1.08-2.23); and endometrial cancer, 1.31 (1.07-1.61). Associations were stronger for rarer cancers and at tissue sites with lower rates of stem cell division. There was generally little evidence of association between genetically increased telomere length and risk of psychiatric, autoimmune, inflammatory, diabetic, and other non-neoplastic diseases, except for coronary heart disease (OR, 0.78 [95% CI, 0.67-0.90]), abdominal aortic aneurysm (OR, 0.63 [95% CI, 0.49-0.81]), celiac disease (OR, 0.42 [95% CI, 0.28-0.61]) and interstitial lung disease (OR, 0.09 [95% CI, 0.05-0.15]).Conclusions and relevanceIt is likely that longer telomeres increase risk for several cancers but reduce risk for some non-neoplastic diseases, including cardiovascular diseases.

Published
2017

11. Association Between Telomere Length and Risk of Cancer and Non-Neoplastic Diseases: A Mendelian Randomization Study.

Author

Telomeres Mendelian Randomization Collaboration, Haycock, Philip C, Burgess, Stephen, Nounu, Aayah, Zheng, Jie, Okoli, George N, Bowden, Jack, Wade, Kaitlin Hazel, Timpson, Nicholas J, Evans, David M, Willeit, Peter, Aviv, Abraham, Gaunt, Tom R, Hemani, Gibran, Mangino, Massimo, Ellis, Hayley Patricia, Kurian, Kathreena M, Pooley, Karen A, Eeles, Rosalind A, Lee, Jeffrey E, Fang, Shenying, Chen, Wei V, Law, Matthew H, Bowdler, Lisa M, Iles, Mark M, Yang, Qiong, Worrall, Bradford B, Markus, Hugh Stephen, Hung, Rayjean J, Amos, Chris I, Spurdle, Amanda B, Thompson, Deborah J, O'Mara, Tracy A, Wolpin, Brian, Amundadottir, Laufey, Stolzenberg-Solomon, Rachael, Trichopoulou, Antonia, Onland-Moret, N Charlotte, Lund, Eiliv, Duell, Eric J, Canzian, Federico, Severi, Gianluca, Overvad, Kim, Gunter, Marc J, Tumino, Rosario, Svenson, Ulrika, van Rij, Andre, Baas, Annette F, Bown, Matthew J, Samani, Nilesh J, van t'Hof, Femke NG, Tromp, Gerard, Jones, Gregory T, Kuivaniemi, Helena, Elmore, James R, Johansson, Mattias, Mckay, James, Scelo, Ghislaine, Carreras-Torres, Robert, Gaborieau, Valerie, Brennan, Paul, Bracci, Paige M, Neale, Rachel E, Olson, Sara H, Gallinger, Steven, Li, Donghui, Petersen, Gloria M, Risch, Harvey A, Klein, Alison P, Han, Jiali, Abnet, Christian C, Freedman, Neal D, Taylor, Philip R, Maris, John M, Aben, Katja K, Kiemeney, Lambertus A, Vermeulen, Sita H, Wiencke, John K, Walsh, Kyle M, Wrensch, Margaret, Rice, Terri, Turnbull, Clare, Litchfield, Kevin, Paternoster, Lavinia, Standl, Marie, Abecasis, Gonçalo R, SanGiovanni, John Paul, Li, Yong, Mijatovic, Vladan, Sapkota, Yadav, Low, Siew-Kee, Zondervan, Krina T, Montgomery, Grant W, Nyholt, Dale R, van Heel, David A, Hunt, Karen, Arking, Dan E, Ashar, Foram N, Sotoodehnia, Nona, and Woo, Daniel

Subjects
Telomeres Mendelian Randomization Collaboration, Telomere, Humans, Neoplasms, Cardiovascular Diseases, Genetic Predisposition to Disease, Risk Assessment, Germ-Line Mutation, Polymorphism, Single Nucleotide, Adult, Aged, Aged, 80 and over, Middle Aged, Female, Male, Genome-Wide Association Study, Mendelian Randomization Analysis, Telomere Homeostasis, Polymorphism, Single Nucleotide, and over, Prevention, Clinical Research, Cancer, Genetics, Rare Diseases, 2.1 Biological and endogenous factors, Oncology and Carcinogenesis, Public Health and Health Services
Abstract

ImportanceThe causal direction and magnitude of the association between telomere length and incidence of cancer and non-neoplastic diseases is uncertain owing to the susceptibility of observational studies to confounding and reverse causation.ObjectiveTo conduct a Mendelian randomization study, using germline genetic variants as instrumental variables, to appraise the causal relevance of telomere length for risk of cancer and non-neoplastic diseases.Data sourcesGenomewide association studies (GWAS) published up to January 15, 2015.Study selectionGWAS of noncommunicable diseases that assayed germline genetic variation and did not select cohort or control participants on the basis of preexisting diseases. Of 163 GWAS of noncommunicable diseases identified, summary data from 103 were available.Data extraction and synthesisSummary association statistics for single nucleotide polymorphisms (SNPs) that are strongly associated with telomere length in the general population.Main outcomes and measuresOdds ratios (ORs) and 95% confidence intervals (CIs) for disease per standard deviation (SD) higher telomere length due to germline genetic variation.ResultsSummary data were available for 35 cancers and 48 non-neoplastic diseases, corresponding to 420 081 cases (median cases, 2526 per disease) and 1 093 105 controls (median, 6789 per disease). Increased telomere length due to germline genetic variation was generally associated with increased risk for site-specific cancers. The strongest associations (ORs [95% CIs] per 1-SD change in genetically increased telomere length) were observed for glioma, 5.27 (3.15-8.81); serous low-malignant-potential ovarian cancer, 4.35 (2.39-7.94); lung adenocarcinoma, 3.19 (2.40-4.22); neuroblastoma, 2.98 (1.92-4.62); bladder cancer, 2.19 (1.32-3.66); melanoma, 1.87 (1.55-2.26); testicular cancer, 1.76 (1.02-3.04); kidney cancer, 1.55 (1.08-2.23); and endometrial cancer, 1.31 (1.07-1.61). Associations were stronger for rarer cancers and at tissue sites with lower rates of stem cell division. There was generally little evidence of association between genetically increased telomere length and risk of psychiatric, autoimmune, inflammatory, diabetic, and other non-neoplastic diseases, except for coronary heart disease (OR, 0.78 [95% CI, 0.67-0.90]), abdominal aortic aneurysm (OR, 0.63 [95% CI, 0.49-0.81]), celiac disease (OR, 0.42 [95% CI, 0.28-0.61]) and interstitial lung disease (OR, 0.09 [95% CI, 0.05-0.15]).Conclusions and relevanceIt is likely that longer telomeres increase risk for several cancers but reduce risk for some non-neoplastic diseases, including cardiovascular diseases.

Published
2017

12. Vascular Ehlers-Danlos Syndrome: A Comprehensive Natural History Study in a Dutch National Cohort of 142 Patients

Author

Genetica Klinische Genetica, Circulatory Health, Regenerative Medicine and Stem Cells, Genetica, Genetica Groep Van Tintelen, Cancer, Child Health, Demirdas, Serwet, van den Bersselaar, Lisa M, Lechner, Rosan, Bos, Jessica, Alsters, Suzanne I M, Baars, Marieke J H, Baas, Annette F, Baysal, Özlem, van der Crabben, Saskia N, Dulfer, Eelco, Giesbertz, Noor A A, Helderman-van den Enden, Apollonia T J M, Hilhorst-Hofstee, Yvonne, Kempers, Marlies J E, Komdeur, Fenne L, Loeys, Bart, Majoor-Krakauer, Daniëlle, Ockeloen, Charlotte W, Overwater, Eline, van Tintelen, Peter J, Voorendt, Marsha, de Waard, Vivian, Maugeri, Alessandra, Brüggenwirth, Hennie T, van de Laar, Ingrid M B H, Houweling, Arjan C, Genetica Klinische Genetica, Circulatory Health, Regenerative Medicine and Stem Cells, Genetica, Genetica Groep Van Tintelen, Cancer, Child Health, Demirdas, Serwet, van den Bersselaar, Lisa M, Lechner, Rosan, Bos, Jessica, Alsters, Suzanne I M, Baars, Marieke J H, Baas, Annette F, Baysal, Özlem, van der Crabben, Saskia N, Dulfer, Eelco, Giesbertz, Noor A A, Helderman-van den Enden, Apollonia T J M, Hilhorst-Hofstee, Yvonne, Kempers, Marlies J E, Komdeur, Fenne L, Loeys, Bart, Majoor-Krakauer, Daniëlle, Ockeloen, Charlotte W, Overwater, Eline, van Tintelen, Peter J, Voorendt, Marsha, de Waard, Vivian, Maugeri, Alessandra, Brüggenwirth, Hennie T, van de Laar, Ingrid M B H, and Houweling, Arjan C

Published
2024

13. Vascular Ehlers-Danlos Syndrome:A Comprehensive Natural History Study in a Dutch National Cohort of 142 Patients

Author

Demirdas, Serwet, van den Bersselaar, Lisa M., Lechner, Rosan, Bos, Jessica, Alsters, Suzanne I.M., Baars, Marieke J.H., Baas, Annette F., Baysal, Özlem, van der Crabben, Saskia N., Dulfer, Eelco, Giesbertz, Noor A.A., Helderman-Van den Enden, Apollonia T.J.M., Hilhorst-Hofstee, Yvonne, Kempers, Marlies J.E., Komdeur, Fenne L., Loeys, Bart, Majoor-Krakauer, Daniëlle, Ockeloen, Charlotte W., Overwater, Eline, van Tintelen, Peter J., Voorendt, Marsha, de Waard, Vivian, Maugeri, Alessandra, Brüggenwirth, Hennie T., van de Laar, Ingrid M.B.H., Houweling, Arjan C., Demirdas, Serwet, van den Bersselaar, Lisa M., Lechner, Rosan, Bos, Jessica, Alsters, Suzanne I.M., Baars, Marieke J.H., Baas, Annette F., Baysal, Özlem, van der Crabben, Saskia N., Dulfer, Eelco, Giesbertz, Noor A.A., Helderman-Van den Enden, Apollonia T.J.M., Hilhorst-Hofstee, Yvonne, Kempers, Marlies J.E., Komdeur, Fenne L., Loeys, Bart, Majoor-Krakauer, Daniëlle, Ockeloen, Charlotte W., Overwater, Eline, van Tintelen, Peter J., Voorendt, Marsha, de Waard, Vivian, Maugeri, Alessandra, Brüggenwirth, Hennie T., van de Laar, Ingrid M.B.H., and Houweling, Arjan C.

Abstract

BACKGROUND: Vascular Ehlers-Danlos syndrome (vEDS) is a rare connective tissue disorder with a high risk for arterial, bowel, and uterine rupture, caused by heterozygous pathogenic variants in COL3A1. The aim of this cohort study is to provide further insights into the natural history of vEDS and describe genotype-phenotype correlations in a Dutch multicenter cohort to optimize patient care and increase awareness of the disease. METHODS: Individuals with vEDS throughout the Netherlands were included. The phenotype was charted by retrospective analysis of molecular and clinical data, combined with a one-time physical examination. RESULTS: A total of 142 individuals (50% female) participated the study, including 46 index patients (32%). The overall median age at genetic diagnosis was 41.0 years. More than half of the index patients (54.3%) and relatives (53.1%) had a physical appearance highly suggestive of vEDS. In these individuals, major events were not more frequent (P=0.90), but occurred at a younger age (P=0.01). A major event occurred more often and at a younger age in men compared with women (P<0.001 and P=0.004, respectively). Aortic aneurysms (P=0.003) and pneumothoraces (P=0.029) were more frequent in men. Aortic dissection was more frequent in individuals with a COL3A1 variant in the first quarter of the collagen helical domain (P=0.03). CONCLUSIONS: Male sex, type and location of the COL3A1 variant, and physical appearance highly suggestive of vEDS are risk factors for the occurrence and early age of onset of major events. This national multicenter cohort study of Dutch individuals with vEDS provides a valuable basis for improving guidelines for the diagnosing, follow-up, and treatment of individuals with vEDS.

Published
2024

14. Penetrance and Prognosis of MYH7 Variant-Associated Cardiomyopathies: Results From a Dutch Multicenter Cohort Study

Author

Onderzoek Precision medicine, Genetica Klinische Genetica, Cardiologie patientenzorg, Child Health, Circulatory Health, Genetica Sectie Genoomdiagnostiek, Genetica Groep Van Tintelen, Cancer, Team Medisch, Jansen, Mark, de Brouwer, Remco, Hassanzada, Fahima, Schoemaker, Angela E, Schmidt, Amand F, Kooijman-Reumerman, Maria D, Bracun, Valentina, Slieker, Martijn G, Dooijes, Dennis, Vermeer, Alexa M C, Wilde, Arthur A M, Amin, Ahmad S, Lekanne Deprez, Ronald H, Herkert, Johanna C, Christiaans, Imke, de Boer, Rudolf A, Jongbloed, Jan D H, van Tintelen, J Peter, Asselbergs, Folkert W, Baas, Annette F, Onderzoek Precision medicine, Genetica Klinische Genetica, Cardiologie patientenzorg, Child Health, Circulatory Health, Genetica Sectie Genoomdiagnostiek, Genetica Groep Van Tintelen, Cancer, Team Medisch, Jansen, Mark, de Brouwer, Remco, Hassanzada, Fahima, Schoemaker, Angela E, Schmidt, Amand F, Kooijman-Reumerman, Maria D, Bracun, Valentina, Slieker, Martijn G, Dooijes, Dennis, Vermeer, Alexa M C, Wilde, Arthur A M, Amin, Ahmad S, Lekanne Deprez, Ronald H, Herkert, Johanna C, Christiaans, Imke, de Boer, Rudolf A, Jongbloed, Jan D H, van Tintelen, J Peter, Asselbergs, Folkert W, and Baas, Annette F

Published
2024

17. The Genetic Basis of Apparently Idiopathic Ventricular Fibrillation – a Retrospective Overview

Author

Verheul, Lisa M, primary, van der Ree, Martijn H, additional, Groeneveld, Sanne A, additional, Mulder, Bart A, additional, Christiaans, Imke, additional, Kapel, Gijs F L, additional, Alings, Marco, additional, Bootsma, Marianne, additional, Barge-Schaapveld, Daniela Q C M, additional, Balt, Jippe C, additional, Yap, Sing-Chien, additional, Krapels, Ingrid P C, additional, Ter Bekke, Rachel M A, additional, Volders, Paul G A, additional, van der Crabben, Saskia N, additional, Postema, Pieter G, additional, Wilde, Arthur A M, additional, Dooijes, Dennis, additional, Baas, Annette F, additional, and Hassink, Rutger J, additional

Published
2023
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18. Genetics, Clinical Features, and Long-Term Outcome of Noncompaction Cardiomyopathy

Author

van Waning, Jaap I., Caliskan, Kadir, Hoedemaekers, Yvonne M., van Spaendonck-Zwarts, Karin Y., Baas, Annette F., Boekholdt, S. Matthijs, van Melle, Joost P., Teske, Arco J., Asselbergs, Folkert W., Backx, Ad P.C.M., du Marchie Sarvaas, Gideon J., Dalinghaus, Michiel, Breur, Johannes M.P.J., Linschoten, Marijke P.M., Verlooij, Laura A., Kardys, Isabella, Dooijes, Dennis, Lekanne Deprez, Ronald H., IJpma, Arne S., van den Berg, Maarten P., Hofstra, Robert M.W., van Slegtenhorst, Marjon A., Jongbloed, Jan D.H., and Majoor-Krakauer, Danielle

Published
2018
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20. Penetrance and Prognosis of MYH7 Variant-Associated Cardiomyopathies

Author

Jansen, Mark, primary, de Brouwer, Remco, additional, Hassanzada, Fahima, additional, Schoemaker, Angela E., additional, Schmidt, Amand F., additional, Kooijman-Reumerman, Maria D., additional, Bracun, Valentina, additional, Slieker, Martijn G., additional, Dooijes, Dennis, additional, Vermeer, Alexa M.C., additional, Wilde, Arthur A.M., additional, Amin, Ahmad S., additional, Lekanne Deprez, Ronald H., additional, Herkert, Johanna C., additional, Christiaans, Imke, additional, de Boer, Rudolf A., additional, Jongbloed, Jan D.H., additional, van Tintelen, J. Peter, additional, Asselbergs, Folkert W., additional, and Baas, Annette F., additional

Published
2023
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22. Variants in members of the cadherin–catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome

Author

Kievit, Anneke, Tessadori, Federico, Douben, Hannie, Jordens, Ingrid, Maurice, Madelon, Hoogeboom, Jeannette, Hennekam, Raoul, Nampoothiri, Sheela, Kayserili, Hülya, Castori, Marco, Whiteford, Margo, Motter, Connie, Melver, Catherine, Cunningham, Michael, Hing, Anne, Kokitsu-Nakata, Nancy M., Vendramini-Pittoli, Siulan, Richieri-Costa, Antonio, Baas, Annette F., Breugem, Corstiaan C., Duran, Karen, Massink, Maarten, Derksen, Patrick W. B., van IJcken, Wilfred F. J., van Unen, Leontine, Santos-Simarro, Fernando, Lapunzina, Pablo, Gil-da Silva Lopes, Vera L., Lustosa-Mendes, Elaine, Krall, Max, Slavotinek, Anne, Martinez-Glez, Victor, Bakkers, Jeroen, van Gassen, Koen L. I., de Klein, Annelies, van den Boogaard, Marie-José H., and van Haaften, Gijs

Published
2018
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24. Untargeted Metabolomics Identifies Potential Hypertrophic Cardiomyopathy Biomarkers in Carriers of MYBPC3 Founder Variants

Author

Jansen, M.M.P.M., Schuldt, Maike, Driel, Beau O. van, Schmidt, Amand F., Christiaans, Imke, Crabben, Saskia N. van der, Hoedemaekers, Y.M., Asselbergs, Folkert W., Baas, Annette F., Jansen, M.M.P.M., Schuldt, Maike, Driel, Beau O. van, Schmidt, Amand F., Christiaans, Imke, Crabben, Saskia N. van der, Hoedemaekers, Y.M., Asselbergs, Folkert W., and Baas, Annette F.

Abstract

Item does not contain fulltext

Published
2023

25. Untargeted Metabolomics Identifies Potential Hypertrophic Cardiomyopathy Biomarkers in Carriers of MYBPC3 Founder Variants

Author

Jansen, Mark, Schuldt, Maike, Driel, Beau O. van, Schmidt, Amand F., Christiaans, Imke, Crabben, Saskia N. van der, Hoedemaekers, Y.M., Asselbergs, Folkert W., Baas, Annette F., Jansen, Mark, Schuldt, Maike, Driel, Beau O. van, Schmidt, Amand F., Christiaans, Imke, Crabben, Saskia N. van der, Hoedemaekers, Y.M., Asselbergs, Folkert W., and Baas, Annette F.

Abstract

Contains fulltext : 290549.pdf (Publisher’s version ) (Open Access)

Published
2023

26. The genetic basis of apparently idiopathic ventricular fibrillation:A retrospective overview

Author

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., 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., and Hassink, Rutger J.

Abstract

Aims: During the diagnostic work-up of patients with idiopathic ventricular fibrillation (VF), next-generation sequencing panels can be considered to identify genotypes associated with arrhythmias. However, consensus for gene panel testing is still lacking, and variants of uncertain significance (VUS) are often identified. The aim of this study was to evaluate genetic testing and its results in idiopathic VF patients. Methods and results: We investigated 419 patients with available medical records from the Dutch Idiopathic VF Registry. Genetic testing was performed in 379 (91%) patients [median age at event 39 years (27-51), 60% male]. Single-gene testing was performed in 87 patients (23%) and was initiated more often in patients with idiopathic VF before 2010. Panel testing was performed in 292 patients (77%). The majority of causal (likely) pathogenic variants (LP/P, n = 56, 15%) entailed the DPP6 risk haplotype (n = 39, 70%). Moreover, 10 LP/P variants were found in cardiomyopathy genes (FLNC, MYL2, MYH7, PLN (two), TTN (four), RBM20), and 7 LP/P variants were identified in genes associated with cardiac arrhythmias (KCNQ1, SCN5A (2), RYR2 (four)). For eight patients (2%), identification of an LP/P variant resulted in a change of diagnosis. In 113 patients (30%), a VUS was identified. Broad panel testing resulted in a higher incidence of VUS in comparison to single-gene testing (38% vs. 3%, P < 0.001). Conclusion: Almost all patients from the registry underwent, albeit not broad, genetic testing. The genetic yield of causal LP/P variants in idiopathic VF patients is 5%, increasing to 15% when including DPP6. In specific cases, the LP/P variant is the underlying diagnosis. A gene panel specifically for idiopathic VF patients is proposed.

Published
2023

27. The Genetic Basis of Apparently Idiopathic Ventricular Fibrillation - a Retrospective Overview

Author

Team Onderzoek, Cardiovasculaire Epi Team 10, Genetica, Genetica Sectie Genoomdiagnostiek, Circulatory Health, Genetica Klinische Genetica, Team Medisch, 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, Team Onderzoek, Cardiovasculaire Epi Team 10, Genetica, Genetica Sectie Genoomdiagnostiek, Circulatory Health, Genetica Klinische Genetica, Team Medisch, 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, and Hassink, Rutger J

Published
2023

28. Individualized Family Screening for Arrhythmogenic Right Ventricular Cardiomyopathy

Author

Team Onderzoek, Arts Assistenten Cardiologie, Onderzoek Precision medicine, Genetica Klinische Genetica, Circulatory Health, Gezonde Vaten, Genetica Groep Van Tintelen, Cancer, Child Health, Team Medisch, Muller, Steven A, Gasperetti, Alessio, Bosman, Laurens P, Schmidt, Amand F, Baas, Annette F, Amin, Ahmad S, Houweling, Arjan C, Wilde, Arthur A M, Compagnucci, Paolo, Targetti, Mattia, Casella, Michela, Calò, Leonardo, Tondo, Claudio, van der Harst, Pim, Asselbergs, Folkert W, van Tintelen, J Peter, Oerlemans, Marish I F J, Te Riele, Anneline S J M, Team Onderzoek, Arts Assistenten Cardiologie, Onderzoek Precision medicine, Genetica Klinische Genetica, Circulatory Health, Gezonde Vaten, Genetica Groep Van Tintelen, Cancer, Child Health, Team Medisch, Muller, Steven A, Gasperetti, Alessio, Bosman, Laurens P, Schmidt, Amand F, Baas, Annette F, Amin, Ahmad S, Houweling, Arjan C, Wilde, Arthur A M, Compagnucci, Paolo, Targetti, Mattia, Casella, Michela, Calò, Leonardo, Tondo, Claudio, van der Harst, Pim, Asselbergs, Folkert W, van Tintelen, J Peter, Oerlemans, Marish I F J, and Te Riele, Anneline S J M

Published
2023

29. Untargeted Metabolomics Identifies Potential Hypertrophic Cardiomyopathy Biomarkers in Carriers of MYBPC3 Founder Variants

Author

Onderzoek Precision medicine, Genetica, Genetica Sectie Genoomdiagnostiek, Circulatory Health, Genetica Sectie Metabole Diagnostiek, Brain, Child Health, Cancer, Team Medisch, Genetica Klinische Genetica, Jansen, Mark, Schuldt, Maike, van Driel, Beau O, Schmidt, Amand F, Christiaans, Imke, van der Crabben, Saskia N, Hoedemaekers, Yvonne M, Dooijes, Dennis, Jongbloed, Jan D H, Boven, Ludolf G, Deprez, Ronald H Lekanne, Wilde, Arthur A M, Jans, Judith J M, van der Velden, Jolanda, de Boer, Rudolf A, van Tintelen, J Peter, Asselbergs, Folkert W, Baas, Annette F, Onderzoek Precision medicine, Genetica, Genetica Sectie Genoomdiagnostiek, Circulatory Health, Genetica Sectie Metabole Diagnostiek, Brain, Child Health, Cancer, Team Medisch, Genetica Klinische Genetica, Jansen, Mark, Schuldt, Maike, van Driel, Beau O, Schmidt, Amand F, Christiaans, Imke, van der Crabben, Saskia N, Hoedemaekers, Yvonne M, Dooijes, Dennis, Jongbloed, Jan D H, Boven, Ludolf G, Deprez, Ronald H Lekanne, Wilde, Arthur A M, Jans, Judith J M, van der Velden, Jolanda, de Boer, Rudolf A, van Tintelen, J Peter, Asselbergs, Folkert W, and Baas, Annette F

Published
2023

30. Penetrance and Prognosis of MYH7Variant-Associated Cardiomyopathies

Author

Jansen, Mark, de Brouwer, Remco, Hassanzada, Fahima, Schoemaker, Angela E., Schmidt, Amand F., Kooijman-Reumerman, Maria D., Bracun, Valentina, Slieker, Martijn G., Dooijes, Dennis, Vermeer, Alexa M.C., Wilde, Arthur A.M., Amin, Ahmad S., Lekanne Deprez, Ronald H., Herkert, Johanna C., Christiaans, Imke, de Boer, Rudolf A., Jongbloed, Jan D.H., van Tintelen, J. Peter, Asselbergs, Folkert W., and Baas, Annette F.

Abstract

MYH7variants cause hypertrophic cardiomyopathy (HCM), noncompaction cardiomyopathy (NCCM), and dilated cardiomyopathy (DCM). Screening of relatives of patients with genetic cardiomyopathy is recommended from 10 to 12 years of age onward, irrespective of the affected gene.

Published
2024
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31. Untargeted Metabolomics Identifies Potential Hypertrophic Cardiomyopathy Biomarkers in Carriers of MYBPC3 Founder Variants

Author

Jansen, Mark, primary, Schuldt, Maike, additional, van Driel, Beau O., additional, Schmidt, Amand F., additional, Christiaans, Imke, additional, van der Crabben, Saskia N., additional, Hoedemaekers, Yvonne M., additional, Dooijes, Dennis, additional, Jongbloed, Jan D. H., additional, Boven, Ludolf G., additional, Deprez, Ronald H. Lekanne, additional, Wilde, Arthur A. M., additional, Jans, Judith J. M., additional, van der Velden, Jolanda, additional, de Boer, Rudolf A., additional, van Tintelen, J. Peter, additional, Asselbergs, Folkert W., additional, and Baas, Annette F., additional

Published
2023
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32. Prevalence and Disease Expression of Pathogenic and Likely Pathogenic Variants Associated With Inherited Cardiomyopathies in the General Population

Author

Bourfiss, Mimount, primary, van Vugt, Marion, additional, Alasiri, Abdulrahman I., additional, Ruijsink, Bram, additional, van Setten, Jessica, additional, Schmidt, A. Floriaan, additional, Dooijes, Dennis, additional, Puyol-Antón, Esther, additional, Velthuis, Birgitta K., additional, van Tintelen, J. Peter, additional, te Riele, Anneline S.J.M., additional, Baas, Annette F., additional, and Asselbergs, Folkert W., additional

Published
2022
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35. Surveillance and monitoring in vascular Ehlers-Danlos syndrome in European Reference Network For Rare Vascular Diseases (VASCERN)

Author

Laar, I. van de, Baas, Annette F., Backer, J. De, Blankenstein, Jan D., Dulfer, Eelco, Helderman-van den Enden, Apollonia T. J. M., Kempers, M.J.E., Loeys, B.L., Tanteles, George, Frank, Michael, Laar, I. van de, Baas, Annette F., Backer, J. De, Blankenstein, Jan D., Dulfer, Eelco, Helderman-van den Enden, Apollonia T. J. M., Kempers, M.J.E., Loeys, B.L., Tanteles, George, and Frank, Michael

Abstract

Contains fulltext : 253367.pdf (Publisher’s version ) (Open Access)

Published
2022

36. Genetic Evaluation of A Nation-Wide Dutch Pediatric DCM Cohort:The Use of Genetic Testing in Risk Stratification

Author

van der Meulen, Marijke H., Herkert, Johanna C., den Boer, Susanna L., du Marchie Sarvaas, Gideon J., Blom, Nico A., Ten Harkel, Arend D.J., Breur, Hans M.P.J., Rammeloo, Lukas A.J., Tanke, Ronald B., Marcelis, Carlo, van de Laar, Ingrid M.B.H., Verhagen, Judith M.A., Lekanne Dit Deprez, Ronald H., Barge-Schaapveld, Daniela Q.C.M., Baas, Annette F., Sammani, Arjan, Christiaans, Imke, van Tintelen, J. Peter, Dalinghaus, Michiel, van der Meulen, Marijke H., Herkert, Johanna C., den Boer, Susanna L., du Marchie Sarvaas, Gideon J., Blom, Nico A., Ten Harkel, Arend D.J., Breur, Hans M.P.J., Rammeloo, Lukas A.J., Tanke, Ronald B., Marcelis, Carlo, van de Laar, Ingrid M.B.H., Verhagen, Judith M.A., Lekanne Dit Deprez, Ronald H., Barge-Schaapveld, Daniela Q.C.M., Baas, Annette F., Sammani, Arjan, Christiaans, Imke, van Tintelen, J. Peter, and Dalinghaus, Michiel

Abstract

BACKGROUND: This study aimed to describe the current practice and results of genetic evaluation in Dutch children with dilated cardiomyopathy and to evaluate genotype-phenotype correlations that may guide prognosis.METHODS: We performed a multicenter observational study in children diagnosed with dilated cardiomyopathy, from 2010 to 2017.RESULTS: One hundred forty-four children were included. Initial diagnostic categories were idiopathic dilated cardiomyopathy in 67 children (47%), myocarditis in 23 (16%), neuromuscular in 7 (5%), familial in 18 (13%), inborn error of metabolism in 4 (3%), malformation syndrome in 2 (1%), and "other" in 23 (16%). Median follow-up time was 2.1 years [IQR 1.0-4.3]. Hundred-seven patients (74%) underwent genetic testing. We found a likely pathogenic or pathogenic variant in 38 children (36%), most often in MYH7 (n = 8). In 1 patient initially diagnosed with myocarditis, a pathogenic LMNA variant was found. During the study, 39 patients (27%) reached study endpoint (SE: all-cause death or heart transplantation). Patients with a likely pathogenic or pathogenic variant were more likely to reach SE compared with those without (hazard ratio 2.8; 95% CI 1.3-5.8, P = 0.007), while transplant-free survival was significantly lower (P = 0.006). Clinical characteristics at diagnosis did not differ between the 2 groups.CONCLUSIONS: Genetic testing is a valuable tool for predicting prognosis in children with dilated cardiomyopathy, with carriers of a likely pathogenic or pathogenic variant having a worse prognosis overall. Genetic testing should be incorporated in clinical work-up of all children with dilated cardiomyopathy regardless of presumed disease pathogenesis.

Published
2022

37. Prevalence and Disease Expression of Pathogenic and Likely Pathogenic Variants Associated with Inherited Cardiomyopathies in the General Population

Author

Onderzoek Precision medicine, Arts Assistenten Cardiologie, Circulatory Health, Genetica Sectie Genoomdiagnostiek, Researchgr. Hart-brein as., Brain, Genetica Groep Van Tintelen, Cancer, Child Health, Genetica, Genetica Klinische Genetica, Team Medisch, Bourfiss, Mimount, Van Vugt, Marion, Alasiri, Abdulrahman I., Ruijsink, Bram, Van Setten, Jessica, Schmidt, A. Floriaan, Dooijes, Dennis, Puyol-Antón, Esther, Velthuis, Birgitta K., Van Tintelen, J. Peter, Te Riele, Anneline S.J.M., Baas, Annette F., Asselbergs, Folkert W., Onderzoek Precision medicine, Arts Assistenten Cardiologie, Circulatory Health, Genetica Sectie Genoomdiagnostiek, Researchgr. Hart-brein as., Brain, Genetica Groep Van Tintelen, Cancer, Child Health, Genetica, Genetica Klinische Genetica, Team Medisch, Bourfiss, Mimount, Van Vugt, Marion, Alasiri, Abdulrahman I., Ruijsink, Bram, Van Setten, Jessica, Schmidt, A. Floriaan, Dooijes, Dennis, Puyol-Antón, Esther, Velthuis, Birgitta K., Van Tintelen, J. Peter, Te Riele, Anneline S.J.M., Baas, Annette F., and Asselbergs, Folkert W.

Published
2022

38. Blood-based biomarkers for the prediction of hypertrophic cardiomyopathy prognosis: a systematic review and meta-analysis

Author

Onderzoek Precision medicine, Genetica, Child Health, Circulatory Health, Team Medisch, Genetica Klinische Genetica, Jansen, Mark, Algül, Sila, Bosman, Laurens P, Michels, Michelle, van der Velden, Jolanda, de Boer, Rudolf A, van Tintelen, J Peter, Asselbergs, Folkert W, Baas, Annette F, Onderzoek Precision medicine, Genetica, Child Health, Circulatory Health, Team Medisch, Genetica Klinische Genetica, Jansen, Mark, Algül, Sila, Bosman, Laurens P, Michels, Michelle, van der Velden, Jolanda, de Boer, Rudolf A, van Tintelen, J Peter, Asselbergs, Folkert W, and Baas, Annette F

Published
2022

39. Evaluation of the cardiac amyloidosis clinical pathway implementation: a real-world experience

Author

Verpleegkundig Specialisten Cardiologie, Onderzoek Precision medicine, HAG Hart- Vaatziekten, Circulatory Health, JC onderzoeksprogramma Cardiovasculaire Epidemiologie, Team Medisch, Neurologen, Brain, MS Hematologie, Infection & Immunity, Regenerative Medicine and Stem Cells, Cancer, Genetica Klinische Genetica, Brons, Maaike, Muller, Steven A, Rutten, Frans H, van der Meer, Manon G, Vrancken, Alexander F J E, Minnema, Monique C, Baas, Annette F, Asselbergs, Folkert W, Oerlemans, Marish I F J, Verpleegkundig Specialisten Cardiologie, Onderzoek Precision medicine, HAG Hart- Vaatziekten, Circulatory Health, JC onderzoeksprogramma Cardiovasculaire Epidemiologie, Team Medisch, Neurologen, Brain, MS Hematologie, Infection & Immunity, Regenerative Medicine and Stem Cells, Cancer, Genetica Klinische Genetica, Brons, Maaike, Muller, Steven A, Rutten, Frans H, van der Meer, Manon G, Vrancken, Alexander F J E, Minnema, Monique C, Baas, Annette F, Asselbergs, Folkert W, and Oerlemans, Marish I F J

Published
2022

40. Automatic Identification of Patients With Unexplained Left Ventricular Hypertrophy in Electronic Health Record Data to Improve Targeted Treatment and Family Screening

Author

Onderzoek Precision medicine, Genetica Klinische Genetica, Team Medisch, Circulatory Health, Arts Assistenten Cardiologie, Sammani, Arjan, Jansen, Mark, de Vries, Nynke M, de Jonge, Nicolaas, Baas, Annette F, Te Riele, Anneline S J M, Asselbergs, Folkert W, Oerlemans, Marish I F J, Onderzoek Precision medicine, Genetica Klinische Genetica, Team Medisch, Circulatory Health, Arts Assistenten Cardiologie, Sammani, Arjan, Jansen, Mark, de Vries, Nynke M, de Jonge, Nicolaas, Baas, Annette F, Te Riele, Anneline S J M, Asselbergs, Folkert W, and Oerlemans, Marish I F J

Published
2022

41. A tailored approach to informing relatives at risk of inherited cardiac conditions: results of a randomised controlled trial

Author

Genetica Klinische Genetica, Circulatory Health, Genetica, Child Health, van den Heuvel, Lieke M, Hoedemaekers, Yvonne M, Baas, Annette F, Baars, Marieke J H, van Tintelen, J Peter, Smets, Ellen M A, Christiaans, Imke, Genetica Klinische Genetica, Circulatory Health, Genetica, Child Health, van den Heuvel, Lieke M, Hoedemaekers, Yvonne M, Baas, Annette F, Baars, Marieke J H, van Tintelen, J Peter, Smets, Ellen M A, and Christiaans, Imke

Published
2022

43. Meta-Analysis of Genome-Wide Association Studies for Abdominal Aortic Aneurysm Identifies Four New Disease-Specific Risk Loci

Author

Jones, Gregory T., Tromp, Gerard, Kuivaniemi, Helena, Gretarsdottir, Solveig, Baas, Annette F., Giusti, Betti, Strauss, Ewa, van‘t Hof, Femke N.G., Webb, Thomas R., Erdman, Robert, Ritchie, Marylyn D., Elmore, James R., Verma, Anurag, Pendergrass, Sarah, Kullo, Iftikhar J., Ye, Zi, Peissig, Peggy L., Gottesman, Omri, Verma, Shefali S., Malinowski, Jennifer, Rasmussen-Torvik, Laura J., Borthwick, Kenneth M., Smelser, Diane T., Crosslin, David R., de Andrade, Mariza, Ryer, Evan J., McCarty, Catherine A., Böttinger, Erwin P., Pacheco, Jennifer A., Crawford, Dana C., Carrell, David S., Gerhard, Glenn S., Franklin, David P., Carey, David J., Phillips, Victoria L., Williams, Michael J.A., Wei, Wenhua, Blair, Ross, Hill, Andrew A., Vasudevan, Thodor M., Lewis, David R., Thomson, Ian A., Krysa, Jo, Hill, Geraldine B., Roake, Justin, Merriman, Tony R., Oszkinis, Grzegorz, Galora, Silvia, Saracini, Claudia, Abbate, Rosanna, Pulli, Raffaele, Pratesi, Carlo, Saratzis, Athanasios, Verissimo, Ana R., Bumpstead, Suzannah, Badger, Stephen A., Clough, Rachel E., Cockerill, Gillian, Hafez, Hany, Scott, D. Julian A., Futers, T. Simon, Romaine, Simon P.R., Bridge, Katherine, Griffin, Kathryn J., Bailey, Marc A., Smith, Alberto, Thompson, Matthew M., van Bockxmeer, Frank M., Matthiasson, Stefan E., Thorleifsson, Gudmar, Thorsteinsdottir, Unnur, Blankensteijn, Jan D., Teijink, Joep A.W., Wijmenga, Cisca, de Graaf, Jacqueline, Kiemeney, Lambertus A., Lindholt, Jes S., Hughes, Anne, Bradley, Declan T., Stirrups, Kathleen, Golledge, Jonathan, Norman, Paul E., Powell, Janet T., Humphries, Steve E., Hamby, Stephen E., Goodall, Alison H., Nelson, Christopher P., Sakalihasan, Natzi, Courtois, Audrey, Ferrell, Robert E., Eriksson, Per, Folkersen, Lasse, Franco-Cereceda, Anders, Eicher, John D., Johnson, Andrew D., Betsholtz, Christer, Ruusalepp, Arno, Franzén, Oscar, Schadt, Eric E., Björkegren, Johan L.M., Lipovich, Leonard, Drolet, Anne M., Verhoeven, Eric L., Zeebregts, Clark J., Geelkerken, Robert H., van Sambeek, Marc R., van Sterkenburg, Steven M., de Vries, Jean-Paul, Stefansson, Kari, Thompson, John R., de Bakker, Paul I.W., Deloukas, Panos, Sayers, Robert D., Harrison, Seamus C., van Rij, Andre M., Samani, Nilesh J., and Bown, Matthew J.

Published
2017
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46. Penetrance and disease expression of (likely) pathogenic variants associated with inherited cardiomyopathies in the general population

Author

Bourfiss, Mimount, primary, van Vugt, Marion, additional, Alasiri, Abdulrahman I, additional, Ruijsink, Bram, additional, van Setten, Jessica, additional, Schmidt, Amand Floriaan, additional, Dooijes, Dennis, additional, Puyol-Antón, Esther, additional, Velthuis, Birgitta K, additional, van Tintelen, Peter JP, additional, te Riele, Anneline SJM, additional, Baas, Annette F, additional, and Asselbergs, Folkert W, additional

Published
2022
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49. Distinct Metabolomic Signatures in Preclinical and Obstructive Hypertrophic Cardiomyopathy

Author

Schuldt, Maike, primary, van Driel, Beau, additional, Algül, Sila, additional, Parbhudayal, Rahana Y., additional, Barge-Schaapveld, Daniela Q. C. M., additional, Güçlü, Ahmet, additional, Jansen, Mark, additional, Michels, Michelle, additional, Baas, Annette F., additional, van de Wiel, Mark A., additional, Nieuwdorp, Max, additional, Levin, Evgeni, additional, Germans, Tjeerd, additional, Jans, Judith J. M., additional, and van der Velden, Jolanda, additional

Published
2021
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