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Article

Prdm16 mutation determines sex-specific cardiac metabolism and identifies two novel cardiac metabolic regulators.
Kühnisch, J. and Theisen, S. and Dartsch, J. and Fritsche-Guenther, R. and Kirchner, M. and Obermayer, B. and Bauer, A. and Kahlert, A.K. and Rothe, M. and Beule, D. and Heuser, A. and Mertins, P. and Kirwan, J.A. and Berndt, N. and MacRae, C.A. and Hubner, N. and Klaassen, S.
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. and Protonotarios, A. and Gimeno, J.R. and Arbustini, E. and Barriales-Villa, R. and Basso, C. and Bezzina, C.R. and Biagini, E. and Blom, N.A. and de Boer, R.A. and De Winter, T. and Elliott, P.M. and Flather, M. and Garcia-Pavia, P. and Haugaa, K.H. and Ingles, J. and Jurcut, R.O. and Klaassen, S. and Limongelli, G. and Loeys, B. and Mogensen, J. and Olivotto, I. and Pantazis, A. and Sharma, S. and Van Tintelen, J.P. and 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. and Protonotarios, A. and Gimeno, J.R. and Arbustini, E. and Barriales-Villa, R. and Basso, C. and Bezzina, C.R. and Biagini, E. and Blom, N.A. and de Boer, R.A. and De Winter, T. and Elliott, P.M. and Flather, M. and Garcia-Pavia, P. and Haugaa, K.H. and Ingles, J. and Jurcut, R.O. and Klaassen, S. and Limongelli, G. and Loeys, B. and Mogensen, J. and Olivotto, I. and Pantazis, A. and Sharma, S. and Van Tintelen, J.P. and Ware, J.S. and Kaski, J.P.
European Heart Journal 44 (37): 3503-3626. 1 October 2023

Myocarditis and sports in the young: data from a nationwide registry on myocarditis - "MYKKE-Sport".
Schöffl, I. and Holler, S. and Dittrich, S. and Pickardt, T. and Opgen-Rhein, B. and Boehne, M. and Wannenmacher, B. and Reineke, K. and Wiegand, G. and Hecht, T. and Kaestner, M. and Messroghli, D. and Schubert, S. and Seidel, F. 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. and Kammeraad, J.A.E. and Blom, N.A. and Happonen, J.M. and Janousek, J. and Klaassen, S. and Limongelli, G. and Östman-Smith, I. and Sarquella Brugada, G. and Ziolkowska, L.
Cardiology in the Young 33 (5): 681-698. May 2023

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

Acute myocarditis associated with desmosomal gene variants.
Ammirati, E. and Raimondi, F. and Piriou, N. and Sardo Infirri, L. and Mohiddin, S.A. and Mazzanti, A. and Shenoy, C. and Cavallari, U.A. and Imazio, M. and Aquaro, G.D. and Olivotto, I. and Pedrotti, P. and Sekhri, N. and Van de Heyning, C.M. and Broeckx, G. and Peretto, G. and Guttmann, O. and Dellegrottaglie, S. and Scatteia, A. and Gentile, P. and Merlo, M. and Goldberg, R.I. and Reyentovich, A. and Sciamanna, C. and Klaassen, S. and Poller, W. and Trankle, C.R. and Abbate, A. and Keren, A. and Horowitz-Cederboim, S. and Cadrin-Tourigny, J. and Tadros, R. and Annoni, G.A. and Bonoldi, E. and Toquet, C. and Marteau, L. and Probst, V. and Trochu, J.N. and Kissopoulou, A. and Grosu, A. and Kukavica, D. and Trancuccio, A. and Gil, C. and Tini, G. and Pedrazzini, M. and Torchio, M. and Sinagra, G. and Gimeno, J.R. and Bernasconi, D. and Valsecchi, M.G. and Klingel, K. and Adler, E.D. and 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. and Klaassen, S. and Klingel, K. and Knirsch, W. and Kretschmar, O. and Kühnisch, J. 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. and Laser, K.T. and Klingel, K. and Dartsch, J. and Theisen, S. and Pickardt, T. and Holtgrewe, M. and Gärtner, A. and Berger, F. and Beule, D. and Milting, H. and Schubert, S. and Klaassen, S. and Kühnisch, J.
Journal of Cardiovascular Development and Disease 9 (7): 216. 5 July 2022

Clinical characteristics and outcome of biopsy-proven myocarditis in children - Results of the German prospective multicentre registry "MYKKE".
Seidel, F. and Opgen-Rhein, B. and Rentzsch, A. and Boehne, M. and Wannenmacher, B. and Boecker, D. and Reineker, K. and Grafmann, M. and Wiegand, G. and Hecht, T. and Kiski, D. and Fischer, M. and Papakostas, K. and Ruf, B. and Kramp, J. and Khalil, M. and Kaestner, M. and Steinmetz, M. and Fischer, G. and Özcan, S. and Freudenthal, N. and Schweigmann, U. and Hellwig, R. and Pickardt, T. and Klingel, K. and 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. and Kühnisch, J. and 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. and Cleary, A. and Field, E. and Cervi, E. and Boleti, O. and Ziółkowska, L. and Olivotto, I. and Khraiche, D. and Limongelli, G. and Anastasakis, A. and Weintraub, R. and Biagini, E. and Ragni, L. and Prendiville, T. and Duignan, S. and McLeod, K. and Ilina, M. and Fernandez, A. and Marrone, C. and Bökenkamp, R. and Baban, A. and Kubus, P. and Daubeney, P.E.F. and Sarquella-Brugada, G. and Cesar, S. and Klaassen, S. and Ojala, T.H. and Bhole, V. and Medrano, C. and Uzun, O. and Brown, E. and Gran, F. and Sinagra, G. and Castro, F.J. and Stuart, G. and Yamazawa, H. and Barriales-Villa, R. and Garcia-Guereta, L. and Adwani, S. and Linter, K. and Bharucha, T. and Gonzales-Lopez, E. and Siles, A. and Rasmussen, T.B. and Calcagnino, M. and Jones, C.B. and De Wilde, H. and Kubo, T. and Felice, T. and Popoiu, A. and Mogensen, J. and Mathur, S. and Centeno, F. and Reinhardt, Z. and Schouvey, S. and 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. and Ding, T. and Field, E. and Cervi, E. and Ziółkowska, L. and Olivotto, I. and Khraiche, D. and Limongelli, G. and Anastasakis, A. and Weintraub, R. and Biagini, E. and Ragni, L. and Prendiville, T. and Duignan, S. and McLeod, K. and Ilina, M. and Fernandez, A. and Marrone, C. and Bökenkamp, R. and Baban, A. and Kubus, P. and Daubeney, P.E.F. and Sarquella-Brugada, G. and Cesar, S. and Klaassen, S. and Ojala, T.H. and Bhole, V. and Medrano, C. and Uzun, O. and Brown, E. and Gran, F. and Sinagra, G. and Castro, F.J. and Stuart, G. and Vignati, G. and Yamazawa, H. and Barriales-Villa, R. and Garcia-Guereta, L. and Adwani, S. and Linter, K. and Bharucha, T. and Garcia-Pavia, P. and Siles, A. and Rasmussen, T.B. and Calcagnino, M. and Jones, C.B. and De Wilde, H. and Kubo, T. and Felice, T. and Popoiu, A. and Mogensen, J. and Mathur, S. and Centeno, F. and Reinhardt, Z. and Schouvey, S. and O'Mahony, C. and Omar, R.Z. and 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. and Scheibenbogen, C. and Heidecke, H. and Opgen-Rhein, B. and Pickardt, T. and Klingel, K. and Berger, F. and Messroghli, D. and Schubert, S.
Frontiers in Pediatrics 10 : 881208. 28 April 2022

External validation of the HCM Risk-Kids model for predicting sudden cardiac death in childhood hypertrophic cardiomyopathy.
Norrish, G. and Qu, C. and Field, E. and Cervi, E. and Khraiche, D. and Klaassen, S. and Ojala, T.H. and Sinagra, G. and Yamazawa, H. and Marrone, C. and Popoiu, A. and Centeno, F. and Schouvey, S. and Olivotto, I. and Day, S.M. and Colan, S. and Rossano, J. and Wittekind, S.G. and Saberi, S. and Russell, M. and Helms, A. and Ingles, J. and Semsarian, C. and Elliott, P.M. and Ho, C.Y. and 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. and Escher, F. and Haas, J. and Heidecker, B. and Schultheiss, H.P. and Attanasio, P. and Skurk, C. and Haghikia, A. and Meder, B. and Klaassen, S.
JACC: Case Reports 4 (5): 280-286. 2 March 2022

Nationwide registry-based analysis of infective endocarditis risk after pulmonary valve replacement.
Stammnitz, Clara and Huscher, Dörte and Bauer, Ulrike M M and Urban, Aleksandra and Nordmeyer, Johannes and Schubert, Stephan and Photiadis, Joachim and Berger, Felix and Klaassen, S.
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. and Seidel, F. and Kühnisch, J. and Kuehne, T. and Berger, F. and Messroghli, D.R. and Klaassen, S.
Frontiers in Cardiovascular Medicine 8 : 810005. 17 February 2022

Reduced systolic function and not genetic variants determine outcome in pediatric and adult left ventricular noncompaction cardiomyopathy.
Schultze-Berndt, A. and Kühnisch, J. and Herbst, C. and Seidel, F. and Al-Wakeel-Marquard, N. and Dartsch, J. and Theisen, S. and Knirsch, W. and Jenni, R. and Greutmann, M. and Oechslin, E. and Berger, F. and Klaassen, S.
Frontiers in Pediatrics 9 : 722926. September 2021

Pathogenic variants associated with dilated cardiomyopathy predict outcome in pediatric myocarditis.
Seidel, F. and Holtgrewe, M. and Al-Wakeel-Marquard, N. and Opgen-Rhein, B. and Dartsch, J. and Herbst, C. and Beule, D. and Pickardt, T. and Klingel, K. and Messroghli, D. and Berger, F. and Schubert, S. and Kühnisch, J. and Klaassen, S.
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. and Ulmer, B.M. and Laufer, S.D. and Shibamiya, A. and Krämer, E. and Neuber, C. and Hanke, S. and Behrens, C. and Loos, M. and Münch, J. and Kühnisch, J. and Klaassen, S. and Eschenhagen, T. and Patten-Hamel, M. and 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. and Wilsdon, A. and Breckpot, J. and Izarzugaza, J.M. and Fitzgerald, T.W. and Kahlert, A.K. and Sifrim, A. and Wünnemann, F. and Perez-Riverol, Y. and Abdul-Khaliq, H. and Bak, M. and Bassett, A.S. and Benson, W.D. and Berger, F. and Daehnert, I. and Devriendt, K. and Dittrich, S. and Daubeney, P.E. and Garg, V. and Hackmann, K. and Hoff, K. and Hofmann, P. and Dombrowsky, G. and Pickardt, T. and Bauer, U. and Keavney, B.D. and Klaassen, S. and Kramer, H.H. and Marshall, C.R. and Milewicz, D.M. and Lemaire, S. and Coselli, J.S. and Mitchell, M.E. and Tomita-Mitchell, A. and Prakash, S.K. and Stamm, K. and Stewart, A.F.R. and Silversides, C.K. and Siebert, R. and Stiller, B. and Rosenfeld, J.A. and Vater, I. and Postma, A.V. and Caliebe, A. and Brook, J.D. and Andelfinger, G. and Hurles, M.E. and Thienpont, B. and Larsen, L.A. 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. and Seidel, F. and Herbst, C. and Kühnisch, J. and Kuehne, T. and Berger, F. and Klaassen, S. and Messroghli, D.R.
International Journal of Cardiology 333 : 219-225. 15 June 2021

Association for European Paediatric and Congenital Cardiology recommendations for basic training in paediatric and congenital cardiology 2020.
Heying, R. and Albert, D.C. and Voges, I. and Sendzikaite, S. and Sarquella-Brugada, G. and Pluchinotta, F. and Brzezinska-Rajszys, G. and 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. and Ellesøe, S.G. and Doganli, C. and Ehlers, N.S. and Dalgaard, M.D. and Audain, E. and Dombrowsky, G. and Banasik, K. and Sifrim, A. and Wilsdon, A. and Thienpont, B. and Breckpot, J. and Gewillig, M. and Brook, J.D. and Hitz, M.P. and Larsen, L.A. 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. and Haas, J. and Klingel, K. and Kühnisch, J. and Gast, M. and Kaya, Z. and Escher, F. and Kayvanpour, E. and Degener, F. and Opgen-Rhein, B. and Berger, F. and Mochmann, H.C. and Skurk, C. and Heidecker, B. and Schultheiss, H.P. and Monserrat, L. and Meder, B. and Landmesser, U. and Klaassen, S.
Journal of the American Heart Association 9 (10): e015289. 18 May 2020

Targeted panel sequencing in pediatric primary cardiomyopathy supports a critical role of TNNI3.
Kühnisch, J. and Herbst, C. and Al-Wakeel-Marquard, N. and Dartsch, J. and Holtgrewe, M. and Baban, A. and Mearini, G. and Hardt, J. and Kolokotronis, K. and Gerull, B. and Carrier, L. and Beule, D. and Schubert, S. and Messroghli, D. and Degener, F. and Berger, F. and Klaassen, S.
Clinical Genetics 96 (6): 549-559. December 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. and Opgen‐Rhein, B. and Boehne, M. and Weigelt, A. and Wagner, R. and Müller, G. and Rentzsch, A. and zu Knyphausen, E. and Fischer, M. and Papakostas, K. and Wiegand, G. and Ruf, B. and Hannes, T. and Reineker, K. and Kiski, D. and Khalil, M. and Steinmetz, M. and Fischer, G. and Pickardt, T. and Klingel, K. and 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. and Degener, F. and Herbst, C. and Kühnisch, J. and Dartsch, J. and Schmitt, B. and Kuehne, T. and Messroghli, D. and Berger, F. and Klaassen, S.
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. and Kühnisch, J. and Klopocki, E. and Dartsch, J. and Rost, S. and Huculak, C. and Mearini, G. and Störk, S. and Carrier, L. and Klaassen, S. and Gerull, B.
Human Mutation 40 (8): 1101-1114. August 2019

Loss of murine Gfi1 causes neutropenia and induces osteoporosis depending on the pathogen load and systemic inflammation.
Geissler, S. and Textor, M. and Stumpp, S. and Seitz, S. and Lekaj, A. and Brunk, S. and Klaassen, S. and Schinke, T. and Klein, C. and Mundlos, S. and Kornak, U. and Kühnisch, J.
PLoS ONE 13 (6): e0198510. 7 June 2018

Myokarditis im Kindes- und Jugendalter.
Schubert, S. and Messroghli, D. and Klaassen, S. and Berger, F.
Kardiologie up2date 13 (3): 275-293. 2017

The progressive ankyloses protein ANK facilitates clathrin- and adaptor-mediated membrane traffic at the trans-Golgi network-to-endosome interface.
Seifert, W. and Posor, Y. and Schu, P. and Stenbeck, G. and Mundlos, S. and Klaassen, S. and Nürnberg, P. and Haucke, V. and Kornak, U. and Kühnisch, J.
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. and Hitz, M.P. and Wilsdon, A. and Breckpot, J. and Turki, S.H.A. and Thienpont, B. and McRae, J. and Fitzgerald, T.W. and Singh, T. and Swaminathan, G.J. and Prigmore, E. and Rajan, D. and Abdul-Khaliq, H. and Banka, S. and Bauer, U.M.M. and Bentham, J. and Berger, F. and Bhattacharya, S. and Bu'Lock, F. and Canham, N. and Colgiu, I.G. and Cosgrove, C. and Cox, H. and Daehnert, I. and Daly, A. and Danesh, J. and Fryer, A. and Gewillig, M. and Hobson, E. and Hoff, K. and Homfray, T. and Kahlert, A.K. and Ketley, A. and Kramer, H.H. and Lachlan, K. and Lampe, A.K. and Louw, J.J. and Manickara, A.K. and Manase, D. and McCarthy, K.P. and Metcalfe, K. and Moore, C. and Newbury-Ecob, R. and Omer, S.O. and Ouwehand, W.H. and Park, S.M. and Parker, M.J. and Pickardt, T. and Pollard, M.O. and Robert, L. and Roberts, D.J. and Sambrook, J. and Setchfield, K. and Stiller, B. and Thornborough, C. and Toka, O. and Watkins, H. and Williams, D. and Wright, M. and Mital, S. and Daubeney, P.E.F. and Keavney, B. and Goodship, J. and Abu-Sulaiman, R.M. and Klaassen, S. and Wright, C.F. and Firth, H.V. and Barrett, J.C. and Devriendt, K. and FitzPatrick, D.R. and Brook, J.D. and Hurles, M.E.
Nature Genetics 48 (9): 1060-1065. 1 August 2016

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. and Klaassen, S. and Abdul-Khaliq, H. and Schunkert, H.
Kardiologe 9 (3): 213-243. June 2015

Rare variants in NR2F2 cause congenital heart defects in humans.
Al Turki, S. and Manickaraj, A.K. and Mercer, C.L. and Gerety, S.S. and Hitz, M.P. and Lindsay, S. and D'Alessandro, L.C.A. and Swaminathan, G.J. and Bentham, J. and Arndt, A.K. and Low, J. and Breckpot, J. and Gewillig, M. and Thienpont, B. and Abdul-Khaliq, H. and Harnack, C. and Hoff, K. and Kramer, H.H. and Schubert, S. and Siebert, R. and Toka, O. and Cosgrove, C. and Watkins, H. and Lucassen, A.M. and O'Kelly, I.M. and Salmon, A.P. and Bu'Lock, F.A. and Granados-Riveron, J. and Setchfield, K. and Thornborough, C. and Brook, J.D. and Mulder, B. and Klaassen, S. and Bhattacharya, S. and Devriendt, K. and Fitzpatrick, D.F. and Wilson, D.I. and 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. and Dorn, C. and Grunert, M. and Klaassen, S. and Hetzer, R. and Berger, F. and Sperling, S.R.
PLoS ONE 9 (1): e85375. 6 January 2014

Left ventricular non-compaction: prevalence in congenital heart disease.
Stähli, B.E. and Gebhard, C. and Biaggi, P. and Klaassen, S. and Valsangiacomo Buechel, E. and Attenhofer Jost, C.H. and Jenni, R. and 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. and van Engelen, K. and Postma, A.V. and Baars, M.J. and Christiaans, I. and De Haij, S. and Klaassen, S. and 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. and Schaefer, S. and Drenckhahn, J.D. and Sabeh, M.K. and Plovie, E.R. and Caliebe, A. and Klopocki, E. and Musso, G. and Werdich, A.A. and Kalwa, H. and Heinig, M. and Padera, R.F. and Wassilew, K. and Bluhm, J. and Harnack, C. and Martitz, J. and Barton, P.J. and Greutmann, M. and Berger, F. and Huebner, N. and Siebert, R. and Kramer, H.H. and Cook, S.A. and Macrae, C.A. and Klaassen, S.
American Journal of Human Genetics 93 (1): 67-77. 11 July 2013

Value of cardiovascular MR in diagnosing left ventricular non-compaction cardiomyopathy and in discriminating between other cardiomyopathies.
Grothoff, M. and Pachowsky, M. and Hoffmann, J. and Posch, M. and Klaassen, S. and 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. and Lemieux-Perreault, L.P. and Marshall, C. and Feroz-Zada, Y. and Davies, R. and Yang, S.W. and Lionel, A.C. and D'Amours, G. and Lemyre, E. and Cullum, R. and Bigras, J.L. and Thibeault, M. and Chetaille, P. and Montpetit, A. and Khairy, P. and Overduin, B. and Klaassen, S. and Hoodless, P. and Awadalla, P. and Hussin, J. and Idaghdour, Y. and Nemer, M. and Stewart, A.F. and Boerkoel, C. and Scherer, S.W. and Richter, A. and 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. and Schafer, S. and Greaser, M.L. and Radke, M.H. and Liss, M. and Govindarajan, T. and Maatz, H. and Schulz, H. and Lincoln, S.E. and Parrish, A.M. and Dauksaite, V. and Vakeel, P. and Klaassen, S. and Gerull, B. and Thierfelder, L. and Regitz-Zagrosek, V. and Hacker, T.A. and Saupe, K.W. and Dec, G.W. and Ellinor, P.T. and MacRae, C.A. and Spallek, B. and Fischer, R. and Perrot, A. and Ozcelik, C. and Saar, K. and Hubner, N. and Gotthardt, M.
Nature Medicine 18 (5): 766-773. May 2012

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

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

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

Stress-induced dilated cardiomyopathy in a knock-in mouse model mimicking human titin-based disease.
Gramlich, M. and Michely, B. and Krohne, C. and Heuser, A. and Erdmann, B. and Klaassen, S. and Hudson, B. and Magarin, M. and Kirchner, F. and Todiras, M. and Granzier, H. and Labeit, S. and Thierfelder, L. and Gerull, B.
Journal of Molecular and Cellular Cardiology 47 (3): 352-358. September 2009

Mutations in sarcomere protein genes in left ventricular noncompaction.
Klaassen, S. and Probst, S. and Oechslin, E. and Gerull, B. and Krings, G. and Schuler, P. and Greutmann, M. and Huerlimann, D. and Yegitbasi, M. and Pons, L. and Gramlich, M. and Drenckhahn, J.D. and Heuser, A. and Berger, F. and Jenni, R. and Thierfelder, L.
Circulation 117 (22): 2893-2901. 3 June 2008

Mutant desmocollin-2 causes arrhythmogenic right ventricular cardiomyopathy.
Heuser, A. and Plovie, E.R. and Ellinor, P.T. and Grossmann, K.S. and Shin, J.T. and Wichter, T. and Basson, C.T. and Lerman, B.B. and Sasse-Klaassen, S. and Thierfelder, L. and MacRae, C.A. and Gerull, B.
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. and Sasse-Klaassen, S. and Probst, S. and Gerull, B. and Shin, J.T. and Toeppel, A. and Heuser, A. and Michely, B. and Yoerger, D.M. and Song, B.S. and Pilz, B. and Krings, G. and Coplin, B. and Lange, P.E. and Dec, G.W. and Hennies, H.C. and 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. and Atherton, J. and Geupel, A. and Sasse-Klaassen, S. and Heuser, A. and Frenneaux, M. and McNabb, M. and Granzier, H. and Labeit, S. and Thierfelder, L.
Journal of Molecular Medicine 84 (6): 478-483. June 2006

Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy.
Gerull, B. and Heuser, A. and Wichter, T. and Paul, M. and Basson, C.T. and McDermott, D.A. and Lerman, B.B. and Markowitz, S.M. and Ellinor, P.T. and MacRae, C.A. and Peters, S. and Grossmann, K.S. and Drenckhahn, J. and Michely, B. and Sasse-Klaassen, S. and Birchmeier, W. and Dietz, R. and Breithardt, G. and 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. and Probst, S. and Gerull, B. and Oechslin, E. and Nuernberg, P. and Heuser, A. and Jenni, R. and Hennies, H.C. and Thierfelder, L.
Circulation 109 (22): 2720-2723. 8 June 2004

Isolated noncompaction of the left ventricular myocardium in the adult is an autosomal dominant disorder in the majority of patients.
Sasse-Klaassen, S. and Gerull, B. and Oechslin, E. and Jenni, R. and Thierfelder, L.
American Journal of Medical Genetics A 119A (2): 162-167. 1 June 2003

Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy.
Gerull, B. and Gramlich, M. and Atherton, J. and McNabb, M. and Trombitas, K. and Sasse-Klaassen, S. and Seidman, J.G. and Seidman, C. and Granzier, H. and Labeit, S. and Frenneaux, M. and Thierfelder, L.
Nature Genetics 30 (2): 201-204. February 2002

Book Section

Infectious cardiac diseases in children.
Klaassen, S. and Seidel, F. and Dalinghaus, M. and 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

Infectious cardiac diseases in children; Sabine Klaassen, Franziska Seidel, Michiel Dalinghaus, Thomas Salaets, Ruth Heying.
Klaassen, S. and Seidel, F. and Dalinghaus, M. and 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

The genetic landscape of cardiomyopathies.
Gerull, B. and Klaassen, S. 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

Left ventricular noncompaction.
Hoedemaekers, Y.M. and Klaassen, S.
In: Clinical Cardiogenetics. Springer, Cham, 113-135. ISBN 978-3-319-44202-0 2 December 2016

Focused Review: Ventricular noncompaction: an update.
Klaassen, S.
In: Braunwald's Heart Disease: a textbook of cardiovascular medicine. Saunders, Philadelphia, Pa., Chapter 65. ISBN 978-1-416-04104-7 2008

Review

Gendiagnostik bei kardiovaskulären Erkrankungen.
Schulze-Bahr, E. and Klaassen, S. and Gerull, B. and von Kodolitsch, Y. and Landmesser, U. and Rieß, O. and Meder, B. and Schunkert, H.
Kardiologie 17 : 300-349. September 2023

Left ventricular noncompaction in children: the role of genetics, morphology, and function for outcome.
Klaassen, S. and Kühnisch, J. and Schultze-Berndt, A. and Seidel, F.
Journal of Cardiovascular Development and Disease 9 (7): 206. 30 June 2022

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

Letter

Severe heart failure in the setting of inflammatory cardiomyopathy with likely pathogenic titin variant.
Mueller, M. and Zwinger, L. and Klaassen, S. and Poller, W. and Monserrat Iglesias, L. and Pablo Ochoa, J. and Klingel, K. and Landmesser, U. and Heidecker, B.
International Journal of Cardiology (IJC) Heart & Vasculature 39 : 100969. April 2022

Editorial

Left ventricular noncompaction is a myocardial phenotype: cardiomyopathy - yes or no?
Oechslin, E. and Jenni, R. and Klaassen, S.
Canadian Journal of Cardiology 37 (3): 366-369. March 2021

Left ventricular noncompaction: phenotype in an integrated model of cardiomyopathy?
Oechslin, E. and Klaassen, S.
Journal of the American College of Cardiology 73 (13): 1612-1615. 1 April 2019

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

Malformations of the left ventricle: what comes first: form or function?
Klaassen, S.
Circulation Cardiovascular Genetics 8 (4): 537-540. August 2015

Preprint

Prdm16 mutation determines sex-specific cardiac metabolism and identifies two novel cardiac metabolic regulators.
Kühnisch, J. and Theisen, S. and Dartsch, J. and Fritsche-Guenther, R. and Kirchner, M. and Obermayer, B. and Bauer, A. and Kahlert, A.K. and Rothe, M. and Beule, D. and Heuser, A. and Mertins, P. and Kirwan, J.A. and Berndt, N. and MacRae, C.A. and Hubner, N. and Klaassen, S.
bioRxiv : 2023.01.10.523243. 10 January 2023

Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart disease.
Audain, E. and Wilsdon, A. and Breckpot, J. and Izarzugaza, J.M.G. and Fitzgerald, T.W. and Kahlert, A.K. and Sifrim, A. and Wünnemann, F. and Perez-Riverol, Y. and Abdul-Khaliq, H. and Bak, M. and Bassett, A.S. and Belmont, J.W. and Benson, D.W. and Berger, F. and Daehnert, I. and Devriendt, K. and Dittrich, S. and Daubeney, P. and Garg, V. and Hackmann, K. and Hoff, K. and Hofmann, P. and Dombrowsky, G. and Pickardt, T. and Bauer, U. and Keavney, B.D. and Klaassen, S. and Kramer, H.H. and Marshall, C.R. and Milewicz, D.M. and Lemaire, S.A. and Coselli, J. and Mitchell, M.E. and Tomita-Mitchell, A. and Prakash, S.K. and Stamm, K. and Stewart, A.F.R. and Silversides, C.K. and Siebert, R. and Stiller, B. and Rosenfeld, J.A. and Vater, I. and Postma, A.V. and Caliebe, A. and Brook, J.D. and Andelfinger, G. and Hurles, M.E. and Thienpont, B. and Larsen, L.A. and Hitz, M.P.
bioRxiv : 2020.06.25.169573. 25 June 2020