2026

A homozygous variant in cardiac troponin I3, TNNI3, causes severe pediatric restrictive cardiomyopathy.
Kühnisch, Jirko ORCID: https://orcid.org/0000-0003-4744-5421, Barnett, Cara L. ORCID: https://orcid.org/0000-0003-2980-4005, Brendel, Josephine ORCID: https://orcid.org/0000-0002-7947-2881, Berklite, Lara ORCID: https://orcid.org/0009-0000-7341-1642, Villa, Chet ORCID: https://orcid.org/0000-0002-8195-0694, Seifert, Wenke ORCID: https://orcid.org/0000-0003-1432-9862, Klaassen, Sabine ORCID: https://orcid.org/0000-0001-5925-9912, Klingel, Karin ORCID: https://orcid.org/0000-0003-0203-2498 and Weaver, K. Nicole ORCID: https://orcid.org/0000-0002-3991-135X
Human Genetics and Genomics Advances 7 (3): 100598. 9 July 2026

Assessing the contribution of rare variants to congenital heart disease through a large-scale case-control exome study.
Audain, Enrique, Wilsdon, Anna, Dombrowsky, Gregor, Sifrim, Alejandro, Breckpot, Jeroen, Perez-Riverol, Yasset, Loughna, Siobhan, Daly, Allan, Antoniou, Pavlos, Hofmann, Philipp, Perez-Riverol, Amilcar, Kahlert, Anne-Karin, Bauer, Ulrike, Pickardt, Thomas, Klaassen, Sabine ORCID: https://orcid.org/0000-0001-5925-9912, Berger, Felix, Daehnert, Ingo, Dittrich, Sven, Stiller, Brigitte, Abdul-Khaliq, Hashim, Bu'lock, Frances, Uebing, Anselm, Kramer, Hans-Heiner, Iyer, Vivek, Larsen, Lars Allan, Brook, J. David and Hitz, Marc-Phillip
NPJ Genomic Medicine 11 (1): 30. 2 June 2026

Additional file 1 of DNA methylation analysis of NOTCH1 variants reveals the first episignature for non-syndromic congenital heart defects.
Klaassen, Sabine ORCID: https://orcid.org/0000-0001-5925-9912
[Dataset] 8 January 2026

DNA methylation analysis of NOTCH1 variants reveals the first episignature for non-syndromic congenital heart defects.
Dombrowsky, Gregor ORCID: https://orcid.org/0000-0003-2591-2682, van der Laan, Liselot ORCID: https://orcid.org/0000-0002-7800-8665, Silva, Ananília ORCID: https://orcid.org/0000-0002-4730-9676, Breckpot, Jeroen ORCID: https://orcid.org/0000-0002-0734-5154, Audain, Enrique ORCID: https://orcid.org/0000-0002-9201-7840, Wilsdon, Anna, Levy, Michael A., Vos, Niels ORCID: https://orcid.org/0000-0001-6001-3426, Mannens, Marcel ORCID: https://orcid.org/0000-0001-7137-119X, Wang, Jiao, Jain, Anjali, Lesurf, Robert ORCID: https://orcid.org/0000-0001-7095-1491, Winlaw, David ORCID: https://orcid.org/0000-0001-8005-3361, Bezzina, Connie R. ORCID: https://orcid.org/0000-0002-0633-3514, Thomas, Mary Ann ORCID: https://orcid.org/0009-0006-8855-7445, Caliebe, Almuth ORCID: https://orcid.org/0000-0003-2157-425X, Klaassen, Sabine ORCID: https://orcid.org/0000-0001-5925-9912, Berger, Felix ORCID: https://orcid.org/0000-0001-7881-1557, Dittrich, Sven ORCID: https://orcid.org/0000-0002-8455-3416, Stiller, Brigitte ORCID: https://orcid.org/0000-0002-7657-4647, Abdul-Khaliq, Hashim, Dähnert, Ingo, Bu'Lock, Frances, Loughna, Siobhan ORCID: https://orcid.org/0000-0002-3277-1438, Brook, J. David ORCID: https://orcid.org/0000-0002-5946-6740, Mital, Seema ORCID: https://orcid.org/0000-0002-7643-4484, Russell, Robert B. ORCID: https://orcid.org/0000-0002-1905-4717, Pickardt, Thomas, Bauer, Ulrike, Kramer, Hans-Heiner, Uebing, Anselm ORCID: https://orcid.org/0000-0001-8504-0228, Henneman, Peter ORCID: https://orcid.org/0000-0003-2179-7808, Sadikovic, Bekim ORCID: https://orcid.org/0000-0001-6363-0016, Postma, Alex ORCID: https://orcid.org/0000-0003-4874-2487 and Hitz, Marc-Phillip ORCID: https://orcid.org/0000-0001-9894-6897
Genome Medicine 18 (1): 2. 7 January 2026

Linee guida ESC 2025 per il trattamento delle miocarditi e pericarditi - [2025 ESC Guidelines for the management of myocarditis and pericarditis].
Schulz-Menger, Jeanette ORCID: https://orcid.org/0000-0003-3100-1092, Collini, Valentino, Gröschel, Jan ORCID: https://orcid.org/0000-0002-7268-9041, Adler, Yehuda, Brucato, Antonio, Christian, Vanessa, Ferreira, Vanessa M., Gandjbakhch, Estelle, Heidecker, Bettina, Kerneis, Mathieu, Klein, Allan L., Klingel, Karin, Lazaros, George, Lorusso, Roberto, Nesukay, Elena G., Rahimi, Kazem, Ristić, Arsen D., Rucinski, Marcin, Sade, Leyla Elif, Schaubroeck, Hannah, Semb, Anne Grete, Sinagra, Gianfranco, Thune, Jens Jakob and Imazio, Massimo
Giornale Italiano di Cardiologia 27 (1 Suppl. 1): e1-e93. January 2026

2025

Key priorities for the implementation of the 2023 ESC Guidelines for the management of cardiomyopathies in low-resource settings.
Jurcut, Ruxandra, Barriales-Villa, Roberto, Biagini, Elena, Garcia-Pavia, Pablo, Olivotto, Iacopo, Protonotarios, Alexandros, Arbustini, Eloisa, Mogensen, Jens, Elliott, Perry, Arbelo, Elena and Kaski, Juan Pablo
European Heart Journal - Quality of Care and Clinical Outcome 11 (7): 910-918. November 2025

2025 ESC Guidelines for the management of myocarditis and pericarditis - developed by the task for ce for the management of myocarditis and pericarditis of the European Society of Cardiology (ESC) - endorsed by the Association for European Paediatric and Congenital Cardiology (AEPC) and the European Association for Cardio-Thoracic Surgery (EACTS).
Schulz-Menger, Jeanette ORCID: https://orcid.org/0000-0003-3100-1092, Collini, Valentino ORCID: https://orcid.org/0000-0003-0008-4630, Gröschel, Jan ORCID: https://orcid.org/0000-0002-7268-9041, Adler, Yehuda, Brucato, Antonio ORCID: https://orcid.org/0000-0002-7566-5600, Christian, Vanessa, Ferreira, Vanessa M. ORCID: https://orcid.org/0000-0002-0046-7634, Gandjbakhch, Estelle ORCID: https://orcid.org/0000-0002-4846-5021, Heidecker, Bettina ORCID: https://orcid.org/0000-0002-3811-7920, Kerneis, Mathieu ORCID: https://orcid.org/0000-0002-7141-5209, Klein, Allan L. ORCID: https://orcid.org/0000-0001-9240-8369, Klingel, Karin ORCID: https://orcid.org/0000-0003-0203-2498, Lazaros, George ORCID: https://orcid.org/0000-0003-2802-9617, Lorusso, Roberto ORCID: https://orcid.org/0000-0002-1777-2045, Nesukay, Elena G. ORCID: https://orcid.org/0000-0003-0904-7406, Rahimi, Kazem ORCID: https://orcid.org/0000-0002-4807-4610, Ristić, Arsen D. ORCID: https://orcid.org/0000-0002-0713-1180, Rucinski, Marcin ORCID: https://orcid.org/0009-0009-1265-1613, Sade, Leyla Elif ORCID: https://orcid.org/0000-0003-3737-8595, Schaubroeck, Hannah, Semb, Anne Grete ORCID: https://orcid.org/0000-0003-2730-2853, Sinagra, Gianfranco ORCID: https://orcid.org/0000-0003-2700-8478, Thune, Jens Jakob ORCID: https://orcid.org/0000-0002-3621-3775 and Imazio, Massimo ORCID: https://orcid.org/0000-0002-5722-0245
European Heart Journal 46 (40): 3952-4041. 21 October 2025

Contemporary practice and resource availability for genetic testing in paediatric hypertrophic cardiomyopathy.
Sandmann, Christoph ORCID: https://orcid.org/0000-0002-3389-6582, Klaassen, Sabine ORCID: https://orcid.org/0000-0001-5925-9912, Kaski, Juan Pablo ORCID: https://orcid.org/0000-0002-0014-9927 and Norrish, Gabrielle ORCID: https://orcid.org/0000-0003-2064-237X
Journal of Medical Genetics 62 (8): 528-530. August 2025

Sex differences in children and adolescents with hypertrophic cardiomyopathy.
Norrish, Gabrielle, Hall, Kimberley, Field, Ella, Cervi, Elena, Boleti, Olga, Ziółkowska, Lidia, Olivotto, Iacopo, Passantino, Sylvia, Khraiche, Diala, Limongelli, Giuseppe, Weintraub, Robert G., Anastasakis, Aris, Biagini, Elena, Ragni, Luca, Sarquella-Brugada, Georgia, Cesar, Sergi, Prendiville, Terrence, McLeod, Karen, Ilina, Maria, Baban, Anwar, Ojala, Tiina H., Spentzou, Georgia, Bhole, Vinay, Gran, Feran, Brown, Elspeth, Delle Donne, Grazia, Khodaghalian, Bernadette, Fernandez, Adrian, Daubeney, Piers E. F., Linter, Katie, Kubus, Peter, Uzun, Orhan, Bökenkamp, Regina, Raimondi, Francesca, Marrone, Chiara, Medrano, Constantio, Gonzalez-Lopez, Esther, Siles, Ana, Luczak-Wozniak, Katarzyna, Bharucha, Tara, Adwani, Satish, Klaassen, Sabine ORCID: https://orcid.org/0000-0001-5925-9912, Castro, Fernando J., Guereta, Luis, Yamazawa, Hirokuni, Sinagra, Gianfranco, Popoiu, Anca, Perin, Francesca ORCID: https://orcid.org/0000-0003-1041-930X, Chana, B., De Wilde, Hans, Rasmussen, Torsten B., Mogensen, Jens, Mathur, Sujeev, Centeno, Fernando, Reinhardt, Zdenka, Barriales-Villa, Roberto, Kubo, Toru, Felice, Tiziana, Radulescu, Cristina ORCID: https://orcid.org/0000-0003-4625-9344, Schouvey, Sylvie ORCID: https://orcid.org/0000-0002-5950-5615, Chaker, Melissa and Kaski, Juan Pablo ORCID: https://orcid.org/0000-0002-0014-9927
JACC: Advances 4 (8): 101907. August 2025

Enhancing mental health in adults with congenital heart disease: comparison of depression and anxiety screening tools.
Ehmann, Anna-Lena ORCID: https://orcid.org/0009-0002-0607-3529, Schütte, Emily, Semmler, Janina, Berger, Felix, Bauer, Ulrike M. M., Schmitt, Katharina, Pfitzer, Constanze and Helm, Paul C.
European Journal of Cardio-Thoracic Surgery 67 (5): ezaf145. May 2025

2024

Impact of genetic test interpretation on a VPS13B missense variant in Cohen syndrome.
Schottmann, G., Martínez Almudéver, C., Knop, J.C.M., Suk, E.K., Meyer, Z., Kohlhase, J., Himmelreich, N., Kühnisch, J. ORCID: https://orcid.org/0000-0003-4744-5421, Ott, C.E. and Seifert, W.
Frontiers in Neuroscience 18 : 1488133. 11 December 2024

Infectious cardiac diseases in children.
Klaassen, S. ORCID: https://orcid.org/0000-0001-5925-9912, Seidel, F. ORCID: https://orcid.org/0000-0002-1328-1580, Dalinghaus, M., Salaets, T. and Heying, R.
In: Pediatric cardiology: fetal, pediatric, and adult congenital heart diseases. Springer Nature Switzerland AG, Cham, Switzerland, 2537-2567. ISBN 978-3-031-07562-9 17 September 2024

Kommentar zu den Leitlinien 2023 der ESC zum Management von Kardiomyopathien.
Meder, B., Eckardt, L., Falk, V., Klaassen, S. ORCID: https://orcid.org/0000-0001-5925-9912, Klingenheben, T., Knebel, F., Schulze-Bahr, E. and Schulz-Menger, J. ORCID: https://orcid.org/0000-0003-3100-1092
Kardiologie 9 April 2024

2023

Prdm16 mutation determines sex-specific cardiac metabolism and identifies two novel cardiac metabolic regulators.
Kühnisch, J. ORCID: https://orcid.org/0000-0003-4744-5421, Theisen, S., Dartsch, J. ORCID: https://orcid.org/0000-0002-7947-2881, Fritsche-Guenther, R. ORCID: https://orcid.org/0000-0002-6965-0226, Kirchner, M. ORCID: https://orcid.org/0000-0002-7049-534X, Obermayer, B. ORCID: https://orcid.org/0000-0002-9116-630X, Bauer, A., Kahlert, A.K., Rothe, M. ORCID: https://orcid.org/0000-0002-6813-4705, Beule, D. ORCID: https://orcid.org/0000-0002-3284-0632, Heuser, A. ORCID: https://orcid.org/0000-0002-3334-960X, Mertins, P. ORCID: https://orcid.org/0000-0002-2245-528X, Kirwan, J.A. ORCID: https://orcid.org/0000-0002-5423-1651, Berndt, N., MacRae, C.A., Hubner, N. ORCID: https://orcid.org/0000-0002-1218-6223 and Klaassen, S. ORCID: https://orcid.org/0000-0001-5925-9912
Cardiovascular Research 119 (18): 2902-2916. December 2023

Linee guida ESC 2023 per il trattamento delle cardiomiopatie [2023 ESC Guidelines for the management of cardiomyopathies].
Arbelo, E., Protonotarios, A., Gimeno, J.R., Arbustini, E., Barriales-Villa, R., Basso, C., Bezzina, C.R., Biagini, E., Blom, N.A., de Boer, R.A., De Winter, T., Elliott, P.M., Flather, M., Garcia-Pavia, P., Haugaa, K.H., Ingles, J., Jurcut, R.O., Klaassen, S. ORCID: https://orcid.org/0000-0001-5925-9912, Limongelli, G., Loeys, B., Mogensen, J., Olivotto, I., Pantazis, A., Sharma, S., Van Tintelen, J.P., Ware, J.S. and Kaski, J.P.
Giornale Italiano di Cardiologia 24 (11): 1e-127e. November 2023

2023 ESC Guidelines for the management of cardiomyopathies: developed by the task force on the management of cardiomyopathies of the European Society of Cardiology (ESC).
Arbelo, E. ORCID: https://orcid.org/0000-0003-0424-6393, Protonotarios, A. ORCID: https://orcid.org/0000-0001-8595-7212, Gimeno, J.R. ORCID: https://orcid.org/0000-0001-5818-1754, Arbustini, E. ORCID: https://orcid.org/0000-0003-2948-7994, Barriales-Villa, R. ORCID: https://orcid.org/0000-0002-6721-3487, Basso, C. ORCID: https://orcid.org/0000-0002-0195-9753, Bezzina, C.R. ORCID: https://orcid.org/0000-0002-0633-3514, Biagini, E. ORCID: https://orcid.org/0000-0003-0295-0440, Blom, N.A., de Boer, R.A. ORCID: https://orcid.org/0000-0002-4775-9140, De Winter, T., Elliott, P.M. ORCID: https://orcid.org/0000-0003-3383-3984, Flather, M. ORCID: https://orcid.org/0000-0001-5644-3116, Garcia-Pavia, P. ORCID: https://orcid.org/0000-0002-5470-2257, Haugaa, K.H. ORCID: https://orcid.org/0000-0002-4900-0453, Ingles, J. ORCID: https://orcid.org/0000-0002-4846-7676, Jurcut, R.O. ORCID: https://orcid.org/0000-0002-3438-2612, Klaassen, S. ORCID: https://orcid.org/0000-0001-5925-9912, Limongelli, G. ORCID: https://orcid.org/0000-0002-8291-9517, Loeys, B. ORCID: https://orcid.org/0000-0003-3703-9518, Mogensen, J. ORCID: https://orcid.org/0000-0002-8813-573X, Olivotto, I. ORCID: https://orcid.org/0000-0003-1751-9266, Pantazis, A. ORCID: https://orcid.org/0000-0001-5952-6187, Sharma, S. ORCID: https://orcid.org/0000-0002-3630-6138, Van Tintelen, J.P. ORCID: https://orcid.org/0000-0003-3854-6749, Ware, J.S. ORCID: https://orcid.org/0000-0002-6110-5880 and Kaski, J.P. ORCID: https://orcid.org/0000-0002-0014-9927
European Heart Journal 44 (37): 3503-3626. 1 October 2023

Infectious cardiac diseases in children.
Klaassen, S. ORCID: https://orcid.org/0000-0001-5925-9912, Seidel, F. ORCID: https://orcid.org/0000-0002-1328-1580, Dalinghaus, M., Salaets, T. and Heying, R.
In: Pediatric cardiology: fetal, pediatric, and adult congenital heart diseases. Springer, Cham, 1-31. ISBN 978-3-030-42937-9 30 September 2023

Gendiagnostik bei kardiovaskulären Erkrankungen.
Schulze-Bahr, E., Klaassen, S. ORCID: https://orcid.org/0000-0001-5925-9912, Gerull, B., von Kodolitsch, Y., Landmesser, U., Rieß, O., Meder, B. and Schunkert, H.
Kardiologie 17 : 300-349. September 2023

Infectious cardiac diseases in children; Sabine Klaassen, Franziska Seidel, Michiel Dalinghaus, Thomas Salaets, Ruth Heying.
Klaassen, S. ORCID: https://orcid.org/0000-0001-5925-9912, Seidel, F. ORCID: https://orcid.org/0000-0002-1328-1580, Dalinghaus, M., Salaets, T. and Heying, R.
In: Pediatric cardiology : fetal, pediatric, and adult congenital heart diseases. Springer, Cham. ISBN 978-3-030-42937-9 21 July 2023

Myocarditis and sports in the young: data from a nationwide registry on myocarditis - "MYKKE-Sport".
Schöffl, I., Holler, S., Dittrich, S., Pickardt, T., Opgen-Rhein, B., Boehne, M., Wannenmacher, B., Reineke, K., Wiegand, G., Hecht, T., Kaestner, M., Messroghli, D., Schubert, S., Seidel, F. ORCID: https://orcid.org/0000-0002-1328-1580 and Weigelt, A.
Frontiers in Sports and Active Living 5 : 1197640. 26 June 2023

Indications and management of implantable cardioverter-defibrillator therapy in childhood hypertrophic cardiomyopathy.
Kaski, J.P. ORCID: https://orcid.org/0000-0002-0014-9927, Kammeraad, J.A.E., Blom, N.A., Happonen, J.M., Janousek, J. ORCID: https://orcid.org/0000-0002-4932-1150, Klaassen, S. ORCID: https://orcid.org/0000-0001-5925-9912, Limongelli, G. ORCID: https://orcid.org/0000-0002-8291-9517, Östman-Smith, I., Sarquella Brugada, G. and Ziolkowska, L.
Cardiology in the Young 33 (5): 681-698. May 2023

2022

Cardiovascular magnetic resonance in children with suspected myocarditis: current practice and applicability of adult protocols.
Pitak, B., Opgen-Rhein, B., Schubert, S., Reineker, K., Wiegand, G., Boecker, D., Rentzsch, A., Ruf, B., Özcan, S., Wannenmacher, B., Pickardt, T., Seidel, F. ORCID: https://orcid.org/0000-0002-1328-1580 and Messroghli, D.
Cardiology in the Young 32 (12): 1957-1965. December 2022

Acute myocarditis associated with desmosomal gene variants.
Ammirati, E., Raimondi, F., Piriou, N., Sardo Infirri, L., Mohiddin, S.A., Mazzanti, A., Shenoy, C., Cavallari, U.A., Imazio, M., Aquaro, G.D., Olivotto, I., Pedrotti, P., Sekhri, N., Van de Heyning, C.M., Broeckx, G., Peretto, G., Guttmann, O., Dellegrottaglie, S., Scatteia, A., Gentile, P., Merlo, M., Goldberg, R.I., Reyentovich, A., Sciamanna, C., Klaassen, S. ORCID: https://orcid.org/0000-0001-5925-9912, Poller, W., Trankle, C.R., Abbate, A., Keren, A., Horowitz-Cederboim, S., Cadrin-Tourigny, J., Tadros, R., Annoni, G.A., Bonoldi, E., Toquet, C., Marteau, L., Probst, V., Trochu, J.N., Kissopoulou, A., Grosu, A., Kukavica, D., Trancuccio, A., Gil, C., Tini, G., Pedrazzini, M., Torchio, M., Sinagra, G., Gimeno, J.R., Bernasconi, D., Valsecchi, M.G., Klingel, K., Adler, E.D., Camici, P.G. and Cooper, L.T.
JACC Heart Fail 10 (10): 714-727. October 2022

Kardiomyopathie im Neugeborenenalter: Forschungsfortschritte eröffnen neue diagnostische Möglichkeiten [Cardiomyopathy in neonatal age: advances in research open up new diagnostic possibilities].
Frenzel, M., Klaassen, S. ORCID: https://orcid.org/0000-0001-5925-9912, Klingel, K., Knirsch, W., Kretschmar, O., Kühnisch, J. ORCID: https://orcid.org/0000-0003-4744-5421 and Oxenius, A.
Monatsschrift Kinderheilkunde 170 : 912–916. October 2022

Pathogenic variants in cardiomyopathy disorder genes underlie pediatric myocarditis - Further impact of heterozygous immune disorder gene variants?
Seidel, F. ORCID: https://orcid.org/0000-0002-1328-1580, Laser, K.T., Klingel, K. ORCID: https://orcid.org/0000-0003-0203-2498, Dartsch, J. ORCID: https://orcid.org/0000-0002-7947-2881, Theisen, S., Pickardt, T. ORCID: https://orcid.org/0000-0003-0019-6325, Holtgrewe, M. ORCID: https://orcid.org/0000-0002-3051-1763, Gärtner, A. ORCID: https://orcid.org/0000-0001-6899-7693, Berger, F., Beule, D. ORCID: https://orcid.org/0000-0002-3284-0632, Milting, H. ORCID: https://orcid.org/0000-0001-9722-0007, Schubert, S., Klaassen, S. ORCID: https://orcid.org/0000-0001-5925-9912 and Kühnisch, J. ORCID: https://orcid.org/0000-0003-4744-5421
Journal of Cardiovascular Development and Disease 9 (7): 216. 5 July 2022

Left ventricular noncompaction in children: the role of genetics, morphology, and function for outcome.
Klaassen, S. ORCID: https://orcid.org/0000-0001-5925-9912, Kühnisch, J. ORCID: https://orcid.org/0000-0003-4744-5421, Schultze-Berndt, A. and Seidel, F. ORCID: https://orcid.org/0000-0002-1328-1580
Journal of Cardiovascular Development and Disease 9 (7): 206. 30 June 2022

Clinical characteristics and outcome of biopsy-proven myocarditis in children - Results of the German prospective multicentre registry "MYKKE".
Seidel, F. ORCID: https://orcid.org/0000-0002-1328-1580, Opgen-Rhein, B., Rentzsch, A., Boehne, M., Wannenmacher, B., Boecker, D., Reineker, K., Grafmann, M., Wiegand, G., Hecht, T., Kiski, D., Fischer, M., Papakostas, K., Ruf, B., Kramp, J., Khalil, M., Kaestner, M., Steinmetz, M., Fischer, G., Özcan, S., Freudenthal, N., Schweigmann, U., Hellwig, R., Pickardt, T., Klingel, K., Messroghli, D. and Schubert, S.
International Journal of Cardiology 357 : 95-104. 15 June 2022

Disease relevance of rare VPS13B missense variants for neurodevelopmental Cohen syndrome.
Zorn, M., Kühnisch, J. ORCID: https://orcid.org/0000-0003-4744-5421, Bachmann, S. and Seifert, W.
Scientific Reports 12 (1): 9686. 11 June 2022

Clinical features and natural history of preadolescent nonsyndromic hypertrophic cardiomyopathy.
Norrish, G., Cleary, A., Field, E., Cervi, E., Boleti, O., Ziółkowska, L., Olivotto, I., Khraiche, D., Limongelli, G., Anastasakis, A., Weintraub, R., Biagini, E., Ragni, L., Prendiville, T., Duignan, S., McLeod, K., Ilina, M., Fernandez, A., Marrone, C., Bökenkamp, R., Baban, A., Kubus, P., Daubeney, P.E.F., Sarquella-Brugada, G., Cesar, S., Klaassen, S. ORCID: https://orcid.org/0000-0001-5925-9912, Ojala, T.H., Bhole, V., Medrano, C., Uzun, O., Brown, E., Gran, F., Sinagra, G., Castro, F.J., Stuart, G., Yamazawa, H., Barriales-Villa, R., Garcia-Guereta, L., Adwani, S., Linter, K., Bharucha, T., Gonzales-Lopez, E., Siles, A., Rasmussen, T.B., Calcagnino, M., Jones, C.B., De Wilde, H., Kubo, T., Felice, T., Popoiu, A., Mogensen, J., Mathur, S., Centeno, F., Reinhardt, Z., Schouvey, S., Elliott, P.M. and Kaski, J.P.
Journal of the American College of Cardiology 79 (20): 1986-1997. 24 May 2022

Relationship between maximal left ventricular wall thickness and sudden cardiac death in childhood onset hypertrophic cardiomyopathy.
Norrish, G., Ding, T., Field, E., Cervi, E., Ziółkowska, L., Olivotto, I., Khraiche, D., Limongelli, G., Anastasakis, A., Weintraub, R., Biagini, E., Ragni, L., Prendiville, T., Duignan, S., McLeod, K., Ilina, M., Fernandez, A., Marrone, C., Bökenkamp, R., Baban, A., Kubus, P., Daubeney, P.E.F., Sarquella-Brugada, G., Cesar, S., Klaassen, S. ORCID: https://orcid.org/0000-0001-5925-9912, Ojala, T.H., Bhole, V., Medrano, C., Uzun, O., Brown, E., Gran, F., Sinagra, G., Castro, F.J., Stuart, G., Vignati, G., Yamazawa, H., Barriales-Villa, R., Garcia-Guereta, L., Adwani, S., Linter, K., Bharucha, T., Garcia-Pavia, P., Siles, A., Rasmussen, T.B., Calcagnino, M., Jones, C.B., De Wilde, H., Kubo, T., Felice, T., Popoiu, A., Mogensen, J., Mathur, S., Centeno, F., Reinhardt, Z., Schouvey, S., O'Mahony, C., Omar, R.Z., Elliott, P.M. and Kaski, J.P.
Circulation Arrhythmia and Electrophysiology 15 (5): e010075. May 2022

Compensatory upregulation of anti-beta-adrenergic receptor antibody levels might prevent heart failure presentation in pediatric myocarditis.
Seidel, F. ORCID: https://orcid.org/0000-0002-1328-1580, Scheibenbogen, C., Heidecke, H., Opgen-Rhein, B., Pickardt, T., Klingel, K., Berger, F., Messroghli, D. and Schubert, S.
Frontiers in Pediatrics 10 : 881208. 28 April 2022

Severe heart failure in the setting of inflammatory cardiomyopathy with likely pathogenic titin variant.
Mueller, M. ORCID: https://orcid.org/0000-0001-6300-0751, Zwinger, L., Klaassen, S. ORCID: https://orcid.org/0000-0001-5925-9912, Poller, W., Monserrat Iglesias, L., Pablo Ochoa, J., Klingel, K., Landmesser, U. and Heidecker, B. ORCID: https://orcid.org/0000-0002-3811-7920
International Journal of Cardiology (IJC) Heart & Vasculature 39 : 100969. April 2022

External validation of the HCM Risk-Kids model for predicting sudden cardiac death in childhood hypertrophic cardiomyopathy.
Norrish, G. ORCID: https://orcid.org/0000-0003-2064-237X, Qu, C., Field, E., Cervi, E., Khraiche, D., Klaassen, S. ORCID: https://orcid.org/0000-0001-5925-9912, Ojala, T.H. ORCID: https://orcid.org/0000-0001-9092-7763, Sinagra, G., Yamazawa, H., Marrone, C., Popoiu, A., Centeno, F., Schouvey, S., Olivotto, I. ORCID: https://orcid.org/0000-0003-1751-9266, Day, S.M., Colan, S., Rossano, J., Wittekind, S.G., Saberi, S., Russell, M., Helms, A., Ingles, J. ORCID: https://orcid.org/0000-0002-4846-7676, Semsarian, C., Elliott, P.M., Ho, C.Y., Omar, R.Z. and Kaski, J.P.
European Journal of Preventive Cardiology 29 (4): 678-686. 30 March 2022

Missense variant E1295K of sodium channel SCN5A associated with recurrent ventricular fibrillation and myocardial inflammation.
Poller, W., Escher, F., Haas, J., Heidecker, B., Schultheiss, H.P., Attanasio, P., Skurk, C., Haghikia, A., Meder, B. and Klaassen, S. ORCID: https://orcid.org/0000-0001-5925-9912
JACC: Case Reports 4 (5): 280-286. 2 March 2022

Nationwide registry-based analysis of infective endocarditis risk after pulmonary valve replacement.
Stammnitz, Clara ORCID: https://orcid.org/0000-0002-8615-5470, Huscher, Dörte ORCID: https://orcid.org/0000-0001-9070-0761, Bauer, Ulrike M M, Urban, Aleksandra, Nordmeyer, Johannes, Schubert, Stephan ORCID: https://orcid.org/0000-0003-2894-6490, Photiadis, Joachim, Berger, Felix ORCID: https://orcid.org/0000-0001-7881-1557 and Klaassen, S. ORCID: https://orcid.org/0000-0001-5925-9912
Journal of the American Heart Association 11 (5): e022231. 18 February 2022

Midwall fibrosis and cardiac mechanics: rigid body rotation is a novel marker of disease severity in pediatric primary dilated cardiomyopathy.
Al-Wakeel-Marquard, N., Seidel, F. ORCID: https://orcid.org/0000-0002-1328-1580, Kühnisch, J. ORCID: https://orcid.org/0000-0003-4744-5421, Kuehne, T., Berger, F., Messroghli, D.R. and Klaassen, S. ORCID: https://orcid.org/0000-0001-5925-9912
Frontiers in Cardiovascular Medicine 8 : 810005. 17 February 2022

2021

Reduced systolic function and not genetic variants determine outcome in pediatric and adult left ventricular noncompaction cardiomyopathy.
Schultze-Berndt, A., Kühnisch, J. ORCID: https://orcid.org/0000-0003-4744-5421, Herbst, C. ORCID: https://orcid.org/0000-0003-2044-5181, Seidel, F. ORCID: https://orcid.org/0000-0002-1328-1580, Al-Wakeel-Marquard, N., Dartsch, J. ORCID: https://orcid.org/0000-0002-7947-2881, Theisen, S., Knirsch, W., Jenni, R., Greutmann, M., Oechslin, E., Berger, F. and Klaassen, S. ORCID: https://orcid.org/0000-0001-5925-9912
Frontiers in Pediatrics 9 : 722926. September 2021

Pathogenic variants associated with dilated cardiomyopathy predict outcome in pediatric myocarditis.
Seidel, F. ORCID: https://orcid.org/0000-0002-1328-1580, Holtgrewe, M. ORCID: https://orcid.org/0000-0002-3051-1763, Al-Wakeel-Marquard, N., Opgen-Rhein, B. ORCID: https://orcid.org/0000-0002-4535-4529, Dartsch, J. ORCID: https://orcid.org/0000-0002-7947-2881, Herbst, C. ORCID: https://orcid.org/0000-0003-2044-5181, Beule, D. ORCID: https://orcid.org/0000-0002-3284-0632, Pickardt, T. ORCID: https://orcid.org/0000-0003-0019-6325, Klingel, K. ORCID: https://orcid.org/0000-0003-0203-2498, Messroghli, D. ORCID: https://orcid.org/0000-0003-1331-5004, Berger, F. ORCID: https://orcid.org/0000-0001-7881-1557, Schubert, S. ORCID: https://orcid.org/0000-0003-2894-6490, Kühnisch, J. ORCID: https://orcid.org/0000-0003-4744-5421 and Klaassen, S. ORCID: https://orcid.org/0000-0001-5925-9912
Circulation Genomic and Precision Medicine 14 (4): e003250. 4 August 2021

Generation of bi-allelic MYBPC3 truncating mutant and isogenic control from an iPSC line of a patient with hypertrophic cardiomyopathy.
Warnecke, N., Ulmer, B.M., Laufer, S.D., Shibamiya, A., Krämer, E., Neuber, C., Hanke, S., Behrens, C., Loos, M., Münch, J., Kühnisch, J. ORCID: https://orcid.org/0000-0003-4744-5421, Klaassen, S. ORCID: https://orcid.org/0000-0001-5925-9912, Eschenhagen, T., Patten-Hamel, M., Carrier, L. and Mearini, G.
Stem Cell Research 55 : 102489. August 2021

Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart disease.
Audain, E. ORCID: https://orcid.org/0000-0002-9201-7840, Wilsdon, A. ORCID: https://orcid.org/0000-0003-2686-1039, Breckpot, J., Izarzugaza, J.M., Fitzgerald, T.W. ORCID: https://orcid.org/0000-0002-2370-8496, Kahlert, A.K., Sifrim, A. ORCID: https://orcid.org/0000-0001-8247-4020, Wünnemann, F. ORCID: https://orcid.org/0000-0002-0978-6076, Perez-Riverol, Y. ORCID: https://orcid.org/0000-0001-6579-6941, Abdul-Khaliq, H., Bak, M. ORCID: https://orcid.org/0000-0003-2762-1002, Bassett, A.S. ORCID: https://orcid.org/0000-0002-0681-7279, Benson, W.D., Berger, F. ORCID: https://orcid.org/0000-0001-7881-1557, Daehnert, I. ORCID: https://orcid.org/0000-0002-2773-689X, Devriendt, K. ORCID: https://orcid.org/0000-0002-3651-2548, Dittrich, S. ORCID: https://orcid.org/0000-0002-8455-3416, Daubeney, P.E. ORCID: https://orcid.org/0000-0001-7573-8235, Garg, V. ORCID: https://orcid.org/0000-0002-3778-5927, Hackmann, K. ORCID: https://orcid.org/0000-0003-4181-2120, Hoff, K. ORCID: https://orcid.org/0000-0002-3259-2536, Hofmann, P., Dombrowsky, G. ORCID: https://orcid.org/0000-0003-2591-2682, Pickardt, T. ORCID: https://orcid.org/0000-0003-0019-6325, Bauer, U., Keavney, B.D. ORCID: https://orcid.org/0000-0001-9573-0812, Klaassen, S. ORCID: https://orcid.org/0000-0001-5925-9912, Kramer, H.H., Marshall, C.R., Milewicz, D.M. ORCID: https://orcid.org/0000-0002-7806-0068, Lemaire, S., Coselli, J.S., Mitchell, M.E., Tomita-Mitchell, A., Prakash, S.K. ORCID: https://orcid.org/0000-0001-6341-9624, Stamm, K. ORCID: https://orcid.org/0000-0002-7844-7326, Stewart, A.F.R. ORCID: https://orcid.org/0000-0003-2673-9164, Silversides, C.K., Siebert, R., Stiller, B. ORCID: https://orcid.org/0000-0002-7657-4647, Rosenfeld, J.A. ORCID: https://orcid.org/0000-0001-5664-7987, Vater, I., Postma, A.V., Caliebe, A. ORCID: https://orcid.org/0000-0003-2157-425X, Brook, J.D., Andelfinger, G. ORCID: https://orcid.org/0000-0002-9047-0502, Hurles, M.E. ORCID: https://orcid.org/0000-0002-2333-7015, Thienpont, B. ORCID: https://orcid.org/0000-0002-8772-6845, Larsen, L.A. ORCID: https://orcid.org/0000-0002-7536-1172 and Hitz, M.P.
PLoS Genetics 17 (7): e1009679. 29 July 2021

Diffuse myocardial fibrosis by T1 mapping is associated with heart failure in pediatric primary dilated cardiomyopathy.
Al-Wakeel-Marquard, N., Seidel, F. ORCID: https://orcid.org/0000-0002-1328-1580, Herbst, C. ORCID: https://orcid.org/0000-0003-2044-5181, Kühnisch, J. ORCID: https://orcid.org/0000-0003-4744-5421, Kuehne, T., Berger, F., Klaassen, S. ORCID: https://orcid.org/0000-0001-5925-9912 and Messroghli, D.R.
International Journal of Cardiology 333 : 219-225. 15 June 2021

Left ventricular noncompaction is a myocardial phenotype: cardiomyopathy - yes or no?
Oechslin, E., Jenni, R. and Klaassen, S. ORCID: https://orcid.org/0000-0001-5925-9912
Canadian Journal of Cardiology 37 (3): 366-369. March 2021

2020

Association for European Paediatric and Congenital Cardiology recommendations for basic training in paediatric and congenital cardiology 2020.
Heying, R. ORCID: https://orcid.org/0000-0003-0743-0823, Albert, D.C., Voges, I., Sendzikaite, S. ORCID: https://orcid.org/0000-0002-0242-9586, Sarquella-Brugada, G., Pluchinotta, F., Brzezinska-Rajszys, G. ORCID: https://orcid.org/0000-0002-4958-4276, Stein, J.I. and Milanesi, O.
Cardiology in the Young 30 (11): 1572-1587. November 2020

Systems genetics analysis identifies calcium-signaling defects as novel cause of congenital heart disease.
Izarzugaza, J.M.G., Ellesøe, S.G., Doganli, C., Ehlers, N.S., Dalgaard, M.D., Audain, E., Dombrowsky, G., Banasik, K., Sifrim, A., Wilsdon, A., Thienpont, B., Breckpot, J., Gewillig, M., Brook, J.D., Hitz, M.P., Larsen, L.A. ORCID: https://orcid.org/0000-0002-7536-1172 and Brunak, S.
Genome Medicine 12 (1): 76. 28 August 2020

Familial recurrent myocarditis triggered by exercise in patients with a truncating variant of the desmoplakin gene.
Poller, W., Haas, J., Klingel, K., Kühnisch, J. ORCID: https://orcid.org/0000-0003-4744-5421, Gast, M., Kaya, Z., Escher, F., Kayvanpour, E., Degener, F., Opgen-Rhein, B., Berger, F., Mochmann, H.C., Skurk, C., Heidecker, B., Schultheiss, H.P., Monserrat, L., Meder, B., Landmesser, U. and Klaassen, S. ORCID: https://orcid.org/0000-0001-5925-9912
Journal of the American Heart Association 9 (10): e015289. 18 May 2020

2019

Targeted panel sequencing in pediatric primary cardiomyopathy supports a critical role of TNNI3.
Kühnisch, J. ORCID: https://orcid.org/0000-0003-4744-5421, Herbst, C. ORCID: https://orcid.org/0000-0003-2044-5181, Al-Wakeel-Marquard, N., Dartsch, J. ORCID: https://orcid.org/0000-0002-7947-2881, Holtgrewe, M. ORCID: https://orcid.org/0000-0002-3051-1763, Baban, A., Mearini, G., Hardt, J., Kolokotronis, K., Gerull, B. ORCID: https://orcid.org/0000-0002-1363-8826, Carrier, L. ORCID: https://orcid.org/0000-0001-8776-5820, Beule, D. ORCID: https://orcid.org/0000-0002-3284-0632, Schubert, S., Messroghli, D. ORCID: https://orcid.org/0000-0003-1331-5004, Degener, F., Berger, F. ORCID: https://orcid.org/0000-0001-7881-1557 and Klaassen, S. ORCID: https://orcid.org/0000-0001-5925-9912
Clinical Genetics 96 (6): 549-559. December 2019

The genetic landscape of cardiomyopathies.
Gerull, B. ORCID: https://orcid.org/0000-0002-1363-8826, Klaassen, S. ORCID: https://orcid.org/0000-0001-5925-9912 and Brodehl, A.
In: Genetic Causes of Cardiac Disease. Cardiac and Vascular Biology, 7 (7). Springer, Cham, 45-91. ISBN 978-3-030-27370-5 28 November 2019

Severe heart failure and the need for mechanical circulatory support and heart transplantation in pediatric patients with myocarditis: results from the prospective multicenter registry "MYKKE".
Schubert, S. ORCID: https://orcid.org/0000-0002-2517-386X, Opgen‐Rhein, B., Boehne, M., Weigelt, A., Wagner, R., Müller, G., Rentzsch, A., zu Knyphausen, E., Fischer, M., Papakostas, K., Wiegand, G., Ruf, B., Hannes, T., Reineker, K., Kiski, D., Khalil, M., Steinmetz, M., Fischer, G., Pickardt, T., Klingel, K., Messroghli, D.R. and Degener, F.
Pediatric Transplantation 23 (7): e13548. November 2019

RIKADA study reveals risk factors in pediatric primary cardiomyopathy.
Al-Wakeel-Marquard, N., Degener, F., Herbst, C. ORCID: https://orcid.org/0000-0003-2044-5181, Kühnisch, J. ORCID: https://orcid.org/0000-0003-4744-5421, Dartsch, J. ORCID: https://orcid.org/0000-0002-7947-2881, Schmitt, B., Kuehne, T., Messroghli, D., Berger, F. and Klaassen, S. ORCID: https://orcid.org/0000-0001-5925-9912
Journal of the American Heart Association 8 (15): e012531. 6 August 2019

Biallelic mutation in MYH7 and MYBPC3 leads to severe cardiomyopathy with left ventricular noncompaction phenotype.
Kolokotronis, K., Kühnisch, J. ORCID: https://orcid.org/0000-0003-4744-5421, Klopocki, E. ORCID: https://orcid.org/0000-0003-1438-2081, Dartsch, J. ORCID: https://orcid.org/0000-0002-7947-2881, Rost, S., Huculak, C., Mearini, G., Störk, S. ORCID: https://orcid.org/0000-0002-1771-7249, Carrier, L. ORCID: https://orcid.org/0000-0001-8776-5820, Klaassen, S. ORCID: https://orcid.org/0000-0001-5925-9912 and Gerull, B. ORCID: https://orcid.org/0000-0002-1363-8826
Human Mutation 40 (8): 1101-1114. August 2019

Left ventricular noncompaction: phenotype in an integrated model of cardiomyopathy?
Oechslin, E. and Klaassen, S. ORCID: https://orcid.org/0000-0001-5925-9912
Journal of the American College of Cardiology 73 (13): 1612-1615. 1 April 2019

2018

Loss of murine Gfi1 causes neutropenia and induces osteoporosis depending on the pathogen load and systemic inflammation.
Geissler, S. ORCID: https://orcid.org/0000-0002-8750-6324, Textor, M. ORCID: https://orcid.org/0000-0001-8162-930X, Stumpp, S., Seitz, S., Lekaj, A., Brunk, S., Klaassen, S. ORCID: https://orcid.org/0000-0001-5925-9912, Schinke, T., Klein, C., Mundlos, S., Kornak, U. and Kühnisch, J. ORCID: https://orcid.org/0000-0003-4744-5421
PLoS ONE 13 (6): e0198510. 7 June 2018

2017

Myokarditis im Kindes- und Jugendalter.
Schubert, S., Messroghli, D., Klaassen, S. ORCID: https://orcid.org/0000-0001-5925-9912 and Berger, F.
Kardiologie up2date 13 (3): 275-293. 2017

2016

Left ventricular noncompaction.
Hoedemaekers, Y.M. and Klaassen, S. ORCID: https://orcid.org/0000-0001-5925-9912
In: Clinical Cardiogenetics. Springer, Cham, 113-135. ISBN 978-3-319-44202-0 2 December 2016

The progressive ankyloses protein ANK facilitates clathrin- and adaptor-mediated membrane traffic at the trans-Golgi network-to-endosome interface.
Seifert, W., Posor, Y., Schu, P., Stenbeck, G., Mundlos, S., Klaassen, S. ORCID: https://orcid.org/0000-0001-5925-9912, Nürnberg, P., Haucke, V., Kornak, U. and Kühnisch, J. ORCID: https://orcid.org/0000-0003-4744-5421
Human Molecular Genetics 25 (17): 3836-3848. 1 September 2016

Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing.
Sifrim, A., Hitz, M.P., Wilsdon, A., Breckpot, J., Turki, S.H.A., Thienpont, B., McRae, J., Fitzgerald, T.W., Singh, T., Swaminathan, G.J., Prigmore, E., Rajan, D., Abdul-Khaliq, H., Banka, S., Bauer, U.M.M., Bentham, J., Berger, F., Bhattacharya, S., Bu'Lock, F., Canham, N., Colgiu, I.G., Cosgrove, C., Cox, H., Daehnert, I., Daly, A., Danesh, J., Fryer, A., Gewillig, M., Hobson, E., Hoff, K., Homfray, T., Kahlert, A.K., Ketley, A., Kramer, H.H., Lachlan, K., Lampe, A.K., Louw, J.J., Manickara, A.K., Manase, D., McCarthy, K.P., Metcalfe, K., Moore, C., Newbury-Ecob, R., Omer, S.O., Ouwehand, W.H., Park, S.M., Parker, M.J., Pickardt, T., Pollard, M.O., Robert, L., Roberts, D.J., Sambrook, J., Setchfield, K., Stiller, B., Thornborough, C., Toka, O., Watkins, H., Williams, D., Wright, M., Mital, S., Daubeney, P.E.F., Keavney, B., Goodship, J., Abu-Sulaiman, R.M., Klaassen, S. ORCID: https://orcid.org/0000-0001-5925-9912, Wright, C.F., Firth, H.V., Barrett, J.C., Devriendt, K., FitzPatrick, D.R., Brook, J.D. and Hurles, M.E.
Nature Genetics 48 (9): 1060-1065. 1 August 2016

2015

Positionspapier Kardiovaskulaere Erkrankungen: Gendiagnostik bei kardiovaskulaeren Erkrankungen [Position paper of cardiovascular disease : genetic diagnostics in cardiovascular diseases].
Schulze-Bahr, E., Klaassen, S. ORCID: https://orcid.org/0000-0001-5925-9912, Abdul-Khaliq, H. and Schunkert, H.
Deutsche Medizinische Wochenschrift 140 (20): 1538. October 2015

Myokarditis.
Schubert, S., Messroghli, D., Klaassen, S. ORCID: https://orcid.org/0000-0001-5925-9912 and Berger, F.
Pädiatrie up2date 10 (03): 223-242. September 2015

Malformations of the left ventricle: what comes first: form or function?
Klaassen, S. ORCID: https://orcid.org/0000-0001-5925-9912
Circulation Cardiovascular Genetics 8 (4): 537-540. August 2015

Gendiagnostik bei kardiovaskulären Erkrankungen: Positionspapier der Deutschen Gesellschaft für Kardiologie (DGK) und der Deutschen Gesellschaft für Pädiatrische Kardiologie (DGPK) [Molecular diagnostics of cardiovascular diseases: Expert consensus statement by the German Cardiac Society (DGK) and the German Society of Pediatric Cardiology (DGPK)].
Schulze-Bahr, E., Klaassen, S. ORCID: https://orcid.org/0000-0001-5925-9912, Abdul-Khaliq, H. and Schunkert, H.
Kardiologe 9 (3): 213-243. June 2015

2014

Rare variants in NR2F2 cause congenital heart defects in humans.
Al Turki, S., Manickaraj, A.K., Mercer, C.L., Gerety, S.S., Hitz, M.P., Lindsay, S., D'Alessandro, L.C.A., Swaminathan, G.J., Bentham, J., Arndt, A.K., Low, J., Breckpot, J., Gewillig, M., Thienpont, B., Abdul-Khaliq, H., Harnack, C., Hoff, K., Kramer, H.H., Schubert, S., Siebert, R., Toka, O., Cosgrove, C., Watkins, H., Lucassen, A.M., O'Kelly, I.M., Salmon, A.P., Bu'Lock, F.A., Granados-Riveron, J., Setchfield, K., Thornborough, C., Brook, J.D., Mulder, B., Klaassen, S. ORCID: https://orcid.org/0000-0001-5925-9912, Bhattacharya, S., Devriendt, K., Fitzpatrick, D.F., Wilson, D.I., Mital, S. and Hurles, M.E.
American Journal of Human Genetics 94 (4): 574-585. 3 April 2014

Outlier-based identification of copy number variations using targeted resequencing in a small cohort of patients with tetralogy of fallot.
Bansal, V., Dorn, C., Grunert, M. ORCID: https://orcid.org/0000-0002-2375-6404, Klaassen, S. ORCID: https://orcid.org/0000-0001-5925-9912, Hetzer, R., Berger, F. and Sperling, S.R. ORCID: https://orcid.org/0000-0002-7135-3298
PLoS ONE 9 (1): e85375. 6 January 2014

2013

Left ventricular non-compaction: prevalence in congenital heart disease.
Stähli, B.E., Gebhard, C., Biaggi, P., Klaassen, S. ORCID: https://orcid.org/0000-0001-5925-9912, Valsangiacomo Buechel, E., Attenhofer Jost, C.H., Jenni, R., Tanner, F.C. and Greutmann, M.
International Journal of Cardiology 167 (6): 2477-2481. 1 September 2013

Ebstein anomaly associated with left ventricular noncompaction: an autosomal dominant condition that can be caused by mutations in MYH7.
Vermeer, A.M., van Engelen, K., Postma, A.V., Baars, M.J., Christiaans, I., De Haij, S., Klaassen, S. ORCID: https://orcid.org/0000-0001-5925-9912, Mulder, B.J. and Keavney, B.
American Journal of Medical Genetics C 163 (3): 178-184. August 2013

Fine mapping of the 1p36 deletion syndrome identifies mutation of PRDM16 as a cause of cardiomyopathy.
Arndt, A.K., Schaefer, S., Drenckhahn, J.D. ORCID: https://orcid.org/0000-0001-8347-7696, Sabeh, M.K., Plovie, E.R., Caliebe, A., Klopocki, E., Musso, G., Werdich, A.A., Kalwa, H., Heinig, M. ORCID: https://orcid.org/0000-0002-5612-1720, Padera, R.F., Wassilew, K., Bluhm, J., Harnack, C., Martitz, J., Barton, P.J., Greutmann, M., Berger, F., Huebner, N. ORCID: https://orcid.org/0000-0002-1218-6223, Siebert, R., Kramer, H.H., Cook, S.A., Macrae, C.A. and Klaassen, S. ORCID: https://orcid.org/0000-0001-5925-9912
American Journal of Human Genetics 93 (1): 67-77. 11 July 2013

Ebstein's anomaly may be caused by mutations in the sarcomere protein gene MYH7.
van Engelen, K., Postma, A.V., van de Meerakker, J.B.A., Roos-Hesselink, J.W., Helderman-van den Enden, A.T.J.M., Vliegen, H.W., Rahman, T., Baars, M.J.H., Sels, J.W., Bauer, U., Pickardt, T., Sperling, S.R. ORCID: https://orcid.org/0000-0002-7135-3298, Moorman, A.F.M., Keavney, B., Goodship, J., Klaassen, S. ORCID: https://orcid.org/0000-0001-5925-9912 and Mulder, B.J.
Netherlands Heart Journal 21 (3): 113-117. March 2013

2012

Value of cardiovascular MR in diagnosing left ventricular non-compaction cardiomyopathy and in discriminating between other cardiomyopathies.
Grothoff, M., Pachowsky, M., Hoffmann, J., Posch, M., Klaassen, S. ORCID: https://orcid.org/0000-0001-5925-9912, Lehmkuhl, L. and Gutberlet, M.
European Radiology 22 (12): 2699-2709. December 2012

Rare copy number variants contribute to congenital left-sided heart disease.
Hitz, M.P., Lemieux-Perreault, L.P., Marshall, C., Feroz-Zada, Y., Davies, R., Yang, S.W., Lionel, A.C., D'Amours, G., Lemyre, E., Cullum, R., Bigras, J.L., Thibeault, M., Chetaille, P., Montpetit, A., Khairy, P., Overduin, B., Klaassen, S. ORCID: https://orcid.org/0000-0001-5925-9912, Hoodless, P., Awadalla, P., Hussin, J., Idaghdour, Y., Nemer, M., Stewart, A.F., Boerkoel, C., Scherer, S.W., Richter, A., Dube, M.P. and Andelfinger, G.
PLoS Genetics 8 (9): e1002903. 6 September 2012

RBM20, a gene for hereditary cardiomyopathy, regulates titin splicing.
Guo, W., Schafer, S., Greaser, M.L., Radke, M.H. ORCID: https://orcid.org/0000-0003-0112-9917, Liss, M. ORCID: https://orcid.org/0000-0002-0585-7850, Govindarajan, T., Maatz, H. ORCID: https://orcid.org/0000-0002-9232-6272, Schulz, H. ORCID: https://orcid.org/0000-0002-0226-964X, Lincoln, S.E., Parrish, A.M., Dauksaite, V. ORCID: https://orcid.org/0000-0002-9399-4731, Vakeel, P., Klaassen, S. ORCID: https://orcid.org/0000-0001-5925-9912, Gerull, B. ORCID: https://orcid.org/0000-0002-1363-8826, Thierfelder, L., Regitz-Zagrosek, V., Hacker, T.A., Saupe, K.W., Dec, G.W., Ellinor, P.T., MacRae, C.A., Spallek, B., Fischer, R. ORCID: https://orcid.org/0000-0002-4828-2882, Perrot, A. ORCID: https://orcid.org/0000-0002-8800-342X, Ozcelik, C., Saar, K. ORCID: https://orcid.org/0000-0002-4483-1557, Hubner, N. ORCID: https://orcid.org/0000-0002-1218-6223 and Gotthardt, M. ORCID: https://orcid.org/0000-0003-1788-3172
Nature Medicine 18 (5): 766-773. May 2012

Predictors of adverse outcome in adolescents and adults with isolated left ventricular noncompaction.
Greutmann, M., Mah, M.L., Silversides, C.K., Klaassen, S. ORCID: https://orcid.org/0000-0001-5925-9912, Attenhofer Jost, C.H., Jenni, R. and Oechslin, E.N.
American Journal of Cardiology 109 (2): 276-281. 15 January 2012

2011

Sarcomere gene mutations in isolated left ventricular noncompaction cardiomyopathy do not predict clinical phenotype.
Probst, S., Oechslin, E., Schuler, P., Greutmann, M., Boye, P., Knirsch, W., Berger, F., Thierfelder, L., Jenni, R. and Klaassen, S. ORCID: https://orcid.org/0000-0001-5925-9912
Circulation Cardiovascular Genetics 4 (4): 367-374. 1 August 2011

Mutations in the sarcomere protein gene MYH7 in Ebstein's anomaly.
Postma, A.V., van Engelen, K., van de Meerakker, J., Rahman, T., Probst, S., Baars, M.J., Bauer, U., Pickardt, T., Sperling, S.R. ORCID: https://orcid.org/0000-0002-7135-3298, Berger, F., Moorman, A.F., Mulder, B.J., Thierfelder, L., Keavney, B., Goodship, J. and Klaassen, S. ORCID: https://orcid.org/0000-0001-5925-9912
Circulation Cardiovascular Genetics 4 (1): 43-50. February 2011

2009

Stress-induced dilated cardiomyopathy in a knock-in mouse model mimicking human titin-based disease.
Gramlich, M., Michely, B., Krohne, C., Heuser, A. ORCID: https://orcid.org/0000-0002-3334-960X, Erdmann, B., Klaassen, S. ORCID: https://orcid.org/0000-0001-5925-9912, Hudson, B., Magarin, M., Kirchner, F., Todiras, M. ORCID: https://orcid.org/0000-0002-9373-4753, Granzier, H. ORCID: https://orcid.org/0000-0002-9516-407X, Labeit, S., Thierfelder, L. and Gerull, B. ORCID: https://orcid.org/0000-0002-1363-8826
Journal of Molecular and Cellular Cardiology 47 (3): 352-358. September 2009

2008

Mutations in sarcomere protein genes in left ventricular noncompaction.
Klaassen, S. ORCID: https://orcid.org/0000-0001-5925-9912, Probst, S., Oechslin, E., Gerull, B. ORCID: https://orcid.org/0000-0002-1363-8826, Krings, G., Schuler, P., Greutmann, M., Huerlimann, D., Yegitbasi, M., Pons, L., Gramlich, M., Drenckhahn, J.D. ORCID: https://orcid.org/0000-0001-8347-7696, Heuser, A. ORCID: https://orcid.org/0000-0002-3334-960X, Berger, F., Jenni, R. and Thierfelder, L.
Circulation 117 (22): 2893-2901. 3 June 2008

Focused Review: Ventricular noncompaction: an update.
Klaassen, S. ORCID: https://orcid.org/0000-0001-5925-9912
In: Braunwald's Heart Disease: a textbook of cardiovascular medicine. Saunders, Philadelphia, Pa., Chapter 65. ISBN 978-1-416-04104-7 2008

2006

Mutant desmocollin-2 causes arrhythmogenic right ventricular cardiomyopathy.
Heuser, A. ORCID: https://orcid.org/0000-0002-3334-960X, Plovie, E.R., Ellinor, P.T., Grossmann, K.S., Shin, J.T., Wichter, T., Basson, C.T., Lerman, B.B., Sasse-Klaassen, S. ORCID: https://orcid.org/0000-0001-5925-9912, Thierfelder, L., MacRae, C.A. and Gerull, B. ORCID: https://orcid.org/0000-0002-1363-8826
American Journal of Human Genetics 79 (6): 1081-1088. December 2006

A novel locus for dilated cardiomyopathy, diffuse myocardial fibrosis, and sudden death on chromosome 10q25-26.
Ellinor, P.T., Sasse-Klaassen, S. ORCID: https://orcid.org/0000-0001-5925-9912, Probst, S., Gerull, B. ORCID: https://orcid.org/0000-0002-1363-8826, Shin, J.T., Toeppel, A., Heuser, A. ORCID: https://orcid.org/0000-0002-3334-960X, Michely, B., Yoerger, D.M., Song, B.S., Pilz, B., Krings, G., Coplin, B., Lange, P.E., Dec, G.W., Hennies, H.C. ORCID: https://orcid.org/0000-0001-7210-2389, Thierfelder, L. and MacRae, C.A.
Journal of the American College of Cardiology 48 (1): 106-111. 4 July 2006

Identification of a novel frameshift mutation in the giant muscle filament titin in a large Australian family with dilated cardiomyopathy.
Gerull, B. ORCID: https://orcid.org/0000-0002-1363-8826, Atherton, J., Geupel, A., Sasse-Klaassen, S. ORCID: https://orcid.org/0000-0001-5925-9912, Heuser, A. ORCID: https://orcid.org/0000-0002-3334-960X, Frenneaux, M., McNabb, M., Granzier, H. ORCID: https://orcid.org/0000-0002-9516-407X, Labeit, S. and Thierfelder, L.
Journal of Molecular Medicine 84 (6): 478-483. June 2006

2004

Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy.
Gerull, B. ORCID: https://orcid.org/0000-0002-1363-8826, Heuser, A. ORCID: https://orcid.org/0000-0002-3334-960X, Wichter, T., Paul, M., Basson, C.T., McDermott, D.A., Lerman, B.B., Markowitz, S.M., Ellinor, P.T., MacRae, C.A., Peters, S., Grossmann, K.S., Drenckhahn, J. ORCID: https://orcid.org/0000-0001-8347-7696, Michely, B., Sasse-Klaassen, S. ORCID: https://orcid.org/0000-0001-5925-9912, Birchmeier, W. ORCID: https://orcid.org/0000-0003-1173-0829, Dietz, R., Breithardt, G., Schulze-Bahr, E. and Thierfelder, L.
Nature Genetics 36 (11): 1162-1164. November 2004

Novel gene locus for autosomal dominant left ventricular noncompaction maps to chromosome 11p15.
Sasse-Klaassen, S. ORCID: https://orcid.org/0000-0001-5925-9912, Probst, S., Gerull, B. ORCID: https://orcid.org/0000-0002-1363-8826, Oechslin, E., Nuernberg, P., Heuser, A., Jenni, R., Hennies, H.C. ORCID: https://orcid.org/0000-0001-7210-2389 and Thierfelder, L.
Circulation 109 (22): 2720-2723. 8 June 2004

2003

Isolated noncompaction of the left ventricular myocardium in the adult is an autosomal dominant disorder in the majority of patients.
Sasse-Klaassen, S. ORCID: https://orcid.org/0000-0001-5925-9912, Gerull, B. ORCID: https://orcid.org/0000-0002-1363-8826, Oechslin, E., Jenni, R. and Thierfelder, L.
American Journal of Medical Genetics A 119A (2): 162-167. 1 June 2003

2002

Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy.
Gerull, B. ORCID: https://orcid.org/0000-0002-1363-8826, Gramlich, M., Atherton, J., McNabb, M., Trombitas, K., Sasse-Klaassen, S. ORCID: https://orcid.org/0000-0001-5925-9912, Seidman, J.G., Seidman, C., Granzier, H. ORCID: https://orcid.org/0000-0002-9516-407X, Labeit, S., Frenneaux, M. and Thierfelder, L.
Nature Genetics 30 (2): 201-204. February 2002