Publications



2016

Seifert W.; Posor Y.; Schu P.; Stenbeck G.; Mundlos S.; Klaassen S.; Nuernberg P.; Haucke V.; Kornak U.; Kuehnisch J.
The progressive ankyloses protein ANK facilitates clathrin- and adaptor-mediated membrane traffic at the trans-Golgi network-to-endosome interface
Human Molecular Genetics 25 (17): 3836-3848 (2016-09-01)



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.; Wright C.F.; Firth H.V.; Barrett J.C.; Devriendt K.; FitzPatrick D.R.; Brook J.D.; Hurles M.E.
Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing
Nature Genetics 48 (9): 1060-1065 (2016-08-01)



2015

Schulze-Bahr E.; Klaassen S.; Abdul-Khaliq H.; Schunkert H.
Position paper of cardiovascular disease : genetic diagnostics in cardiovascular diseases [Positionspapier Kardiovaskulaere Erkrankungen: Gendiagnostik bei kardiovaskulaeren Erkrankungen ]
Deutsche Medizinische Wochenschrift 140 (20): 1538 (2015-10)



Klaassen S.
Malformations of the left ventricle: what comes first: form or function?
Circulation Cardiovascular Genetics 8 (4): 537-540 (2015-08)



Schulze-Bahr E.; Klaassen S.; Abdul-Khaliq H.; Schunkert H.
Molecular diagnostics of cardiovascular diseases: Expert consensus statement by the German Cardiac Society (DGK) and the German Society of Pediatric Cardiology (DGPK) [Gendiagnostik bei kardiovaskulaeren Erkrankungen: Positionspapier der Deutschen Gesellschaft fuer Kardiologie (DGK) und der Deutschen Gesellschaft fuer Paediatrische Kardiologie (DGPK)]
Kardiologe 9 (3): 213-243 (2015-06)



2014

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.; Bhattacharya S.; Devriendt K.; Fitzpatrick D.F.; Wilson D.I.; Mital S.; Hurles M.E.
Rare variants in NR2F2 cause congenital heart defects in humans
American Journal of Human Genetics 94 (4): 574-585 (2014-04-03)



Bansal V.; Dorn C.; Grunert M.; Klaassen S.; Hetzer R.; Berger F.; Sperling S.R.
Outlier-based identification of copy number variations using targeted resequencing in a small cohort of patients with tetralogy of fallot
PLoS ONE 9 (1): e85375 (2014-01-06)



Arndt A.K.; Macrae C.A.; Klaassen S.
Reponse to De Leeuw and Houge
American Journal of Human Genetics 94 (1): 154-155 (2014-01-02)



2013

Staehli B.E.; Gebhard C.; Biaggi P.; Klaassen S.; Valsangiacomo Buechel E.; Attenhofer Jost C.H.; Jenni R.; Tanner F.C.; Greutmann M.
Left ventricular non-compaction: prevalence in congenital heart disease
International Journal of Cardiology 167 (6): 2477-2481 (2013-09-01)



Vermeer A.M.; van Engelen K.; Postma A.V.; Baars M.J.; Christiaans I.; De Haij S.; Klaassen S.; Mulder B.J.; Keavney B.
Ebstein anomaly associated with left ventricular noncompaction: an autosomal dominant condition that can be caused by mutations in MYH7
American Journal of Medical Genetics C 163 (3): 178-184 (2013-08)



Arndt A.K.; Schaefer S.; Drenckhahn J.D.; Sabeh M.K.; Plovie E.R.; Caliebe A.; Klopocki E.; Musso G.; Werdich A.A.; Kalwa H.; Heinig M.; Padera R.F.; Wassilew K.; Bluhm J.; Harnack C.; Martitz J.; Barton P.J.; Greutmann M.; Berger F.; Huebner N.; Siebert R.; Kramer H.H.; Cook S.A.; Macrae C.A.; Klaassen S.
Fine mapping of the 1p36 deletion syndrome identifies mutation of PRDM16 as a cause of cardiomyopathy
American Journal of Human Genetics 93 (1): 67-77 (2013-07-11)



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.; Moorman A.F.M.; Keavney B.; Goodship J.; Klaassen S.; Mulder B.J.
Ebstein's anomaly may be caused by mutations in the sarcomere protein gene MYH7
Netherlands Heart Journal 21 (3): 113-117 (2013-03)



2012

Grothoff M.; Pachowsky M.; Hoffmann J.; Posch M.; Klaassen S.; Lehmkuhl L.; Gutberlet M.
Value of cardiovascular MR in diagnosing left ventricular non-compaction cardiomyopathy and in discriminating between other cardiomyopathies
European Radiology 22 (12): 2699-2709 (2012-12)



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.; Hoodless P.; Awadalla P.; Hussin J.; Idaghdour Y.; Nemer M.; Stewart A.F.; Boerkoel C.; Scherer S.W.; Richter A.; Dube M.P.; Andelfinger G.
Rare copy number variants contribute to congenital left-sided heart disease
PLoS Genetics 8 (9): e1002903 (2012-09-06)



Guo W.; Schafer S.; Greaser M.L.; Radke M.H.; Liss M.; Govindarajan T.; Maatz H.; Schulz H.; Lincoln S.E.; Parrish A.M.; Dauksaite V.; Vakeel P.; Klaassen S.; Gerull B.; Thierfelder L.; Regitz-Zagrosek V.; Hacker T.A.; Saupe K.W.; Dec G.W.; Ellinor P.T.; MacRae C.A.; Spallek B.; Fischer R.; Perrot A.; Ozcelik C.; Saar K.; Hubner N.; Gotthardt M.
RBM20, a gene for hereditary cardiomyopathy, regulates titin splicing
Nature Medicine 18 (5): 766-773 (2012-05)



Greutmann M.; Mah M.L.; Silversides C.K.; Klaassen S.; Attenhofer Jost C.H.; Jenni R.; Oechslin E.N.
Predictors of adverse outcome in adolescents and adults with isolated left ventricular noncompaction
American Journal of Cardiology 109 (2): 276-281 (2012-01-15)



2011

Probst S.; Oechslin E.; Schuler P.; Greutmann M.; Boye P.; Knirsch W.; Berger F.; Thierfelder L.; Jenni R.; Klaassen S.
Sarcomere gene mutations in isolated left ventricular noncompaction cardiomyopathy do not predict clinical phenotype
Circulation Cardiovascular Genetics 4 (4): 367-374 (2011-08-01)



Postma A.V.; van Engelen K.; van de Meerakker J.; Rahman T.; Probst S.; Baars M.J.; Bauer U.; Pickardt T.; Sperling S.R.; Berger F.; Moorman A.F.; Mulder B.J.; Thierfelder L.; Keavney B.; Goodship J.; Klaassen S.
Mutations in the sarcomere protein gene MYH7 in Ebstein's anomaly
Circulation Cardiovascular Genetics 4 (1): 43-50 (2011-02)



2009

Gramlich M.; Michely B.; Krohne C.; Heuser A.; Erdmann B.; Klaassen S.; Hudson B.; Magarin M.; Kirchner F.; Todiras M.; Granzier H.; Labeit S.; Thierfelder L.; Gerull B.
Stress-induced dilated cardiomyopathy in a knock-in mouse model mimicking human titin-based disease
Journal of Molecular and Cellular Cardiology 47 (3): 352-358 (2009-09)



2008

Klaassen S.; Probst S.; Oechslin E.; Gerull B.; Krings G.; Schuler P.; Greutmann M.; Huerlimann D.; Yegitbasi M.; Pons L.; Gramlich M.; Drenckhahn J.D.; Heuser A.; Berger F.; Jenni R.; Thierfelder L.
Mutations in sarcomere protein genes in left ventricular noncompaction
Circulation 117 (22): 2893-2901 (2008-06-03)



Klaassen S.
Focused Review: Ventricular noncompaction: an update
Braunwald's Heart Disease: a textbook of cardiovascular medicine Part VIII: Chapter 65 (2008)



2006

Heuser A.; Plovie E.R.; Ellinor P.T.; Grossmann K.S.; Shin J.T.; Wichter T.; Basson C.T.; Lerman B.B.; Sasse-Klaassen S.; Thierfelder L.; MacRae C.A.; Gerull B.
Mutant desmocollin-2 causes arrhythmogenic right ventricular cardiomyopathy
American Journal of Human Genetics 79 (6): 1081-1088 (2006-12)



Ellinor P.T.; Sasse-Klaassen S.; Probst S.; Gerull B.; Shin J.T.; Toeppel A.; Heuser A.; Michely B.; Yoerger D.M.; Song B.S.; Pilz B.; Krings G.; Coplin B.; Lange P.E.; Dec G.W.; Hennies H.C.; Thierfelder L.; MacRae C.A.
A novel locus for dilated cardiomyopathy, diffuse myocardial fibrosis, and sudden death on chromosome 10q25-26
Journal of the American College of Cardiology 48 (1): 106-111 (2006-07-04)



Gerull B.; Atherton J.; Geupel A.; Sasse-Klaassen S.; Heuser A.; Frenneaux M.; McNabb M.; Granzier H.; Labeit S.; Thierfelder L.
Identification of a novel frameshift mutation in the giant muscle filament titin in a large Australian family with dilated cardiomyopathy
Journal of Molecular Medicine 84 (6): 478-483 (2006-06)



2004

Gerull B.; Heuser A.; 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.; Michely B.; Sasse-Klaassen S.; Birchmeier W.; Dietz R.; Breithardt G.; Schulze-Bahr E.; Thierfelder L.
Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy
Nature Genetics 36 (11): 1162-1164 (2004-11)



Sasse-Klaassen S.; Probst S.; Gerull B.; Oechslin E.; Nuernberg P.; Heuser A.; Jenni R.; Hennies H.C.; Thierfelder L.
Novel gene locus for autosomal dominant left ventricular noncompaction maps to chromosome 11p15
Circulation 109 (22): 2720-2723 (2004-06-08)



2003

Sasse-Klaassen S.; Gerull B.; Oechslin E.; Jenni R.; Thierfelder L.
Isolated noncompaction of the left ventricular myocardium in the adult is an autosomal dominant disorder in the majority of patients
American Journal of Medical Genetics A 119A (2): 162-167 (2003-06-01)



2002

Gerull B.; Gramlich M.; Atherton J.; McNabb M.; Trombitas K.; Sasse-Klaassen S.; Seidman J.G.; Seidman C.; Granzier H.; Labeit S.; Frenneaux M.; Thierfelder L.
Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy
Nature Genetics 30 (2): 201-204 (2002-02)