Author Thiele, Holger

• 2004 | Journal Article | Research Paper
  ​ ​Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease​
  Uhlenberg, B.; Schuelke, M.; Ruschendorf, F.; Ruf, N.; Kaindl, A. M.; Henneke, M. & Thiele, H. et al.​ (2004) 
  American journal of human genetics, 75(2) pp. 251​-260​.​ DOI: https://doi.org/10.1086/422763 
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• 2009 | Journal Article | Research Paper | 
  ​ ​RNASET2-deficient cystic leukoencephalopathy resembles congenital cytomegalovirus brain infection​
  Henneke, M.; Diekmann, S.; Ohlenbusch, A. ; Kaiser, J.; Engelbrecht, V.; Kohlschuetter, A. & Kraetzner, R.  et al.​ (2009) 
  Nature Genetics, 41(7) pp. 773​-775​.​ DOI: https://doi.org/10.1038/ng.398 
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• 2012 | Journal Article | Research Paper | 
  ​ ​Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study​
  Rosewich, H. ; Thiele, H.; Ohlenbusch, A. ; Maschke, U.; Altmüller, J.; Frommolt, P. & Zim, B. et al.​ (2012) 
  The Lancet Neurology, 11(9) pp. 764​-773​.​ DOI: https://doi.org/10.1016/S1474-4422(12)70182-5 
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• 2012 | Journal Article | Research Paper
  ​ ​Attenuated BMP1 Function Compromises Osteogenesis, Leading to Bone Fragility in Humans and Zebrafish​
  Asharani, P. V.; Keupp, K.; Semler, O.; Wang, W.; Li, Y. ; Thiele, H. & Yigit, G.  et al.​ (2012) 
  American journal of human genetics, 90(4) pp. 661​-674​.​ DOI: https://doi.org/10.1016/j.ajhg.2012.02.026 
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• 2013 | Journal Article | Research Paper
  ​ ​CDK6 associates with the centrosome during mitosis and is mutated in a large Pakistani family with primary microcephaly​
  Hussain, M. S.; Baig, S. M.; Neumann, S.; Peche, V. S.; Szczepanski, S.; Nürnberg, G. & Tariq, M. et al.​ (2013) 
  Human Molecular Genetics, 22(25) pp. 5199​-5214​.​ DOI: https://doi.org/10.1093/hmg/ddt374 
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• 2013 | Journal Article | Research Paper
  ​ ​Recessive TRAPPC11 Mutations Cause a Disease Spectrum of Limb Girdle Muscular Dystrophy and Myopathy with Movement Disorder and Intellectual Disability​
  Boegershausen, N.; Shahrzad, N.; Chong, J. X.; von Kleist-Retzow, J.-C.; Stanga, D.; Li, Y.   & Bernier, F. P. et al.​ (2013) 
  American journal of human genetics, 93(1) pp. 181​-190​.​ DOI: https://doi.org/10.1016/j.ajhg.2013.05.028 
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• 2013 | Journal Article | Research Paper
  ​ ​A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling​
  Wieczorek, D.; Boegershausen, N.; Beleggia, F.; Steiner-Haldenstaett, S.; Pohl, E.; Li, Y.   & Milz, E. et al.​ (2013) 
  Human Molecular Genetics, 22(25) pp. 5121​-5135​.​ DOI: https://doi.org/10.1093/hmg/ddt366 
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• 2014 | Journal Article
  ​ ​Fibrinolysis for Patients with Intermediate-Risk Pulmonary Embolism​
  Meyer, G.; Vicaut, E.; Danays, T.; Agnelli, G.; Becattini, C.; Beyer-Westendorf, J. & Bluhmki, E. et al.​ (2014) 
  New England Journal of Medicine, 370(15) pp. 1402​-1411​.​ DOI: https://doi.org/10.1056/NEJMoa1302097 
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• 2014 | Journal Article | Research Paper
  ​ ​Mutations in CKAP2L, the Human Homo log of the Mouse Radmis Gene, Cause Filippi Syndrome​
  Hussain, M. S.; Battaglia, A.; Szczepanski, S.; Kaygusuz, E.; Toliat, M. R.; Sakakibara, S.-i. & Altmüller, J. et al.​ (2014) 
  American journal of human genetics, 95(5) pp. 622​-632​.​ DOI: https://doi.org/10.1016/j.ajhg.2014.10.008 
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• 2014 | Journal Article
  ​ ​Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome​
  Ehmke, N.; Caliebe, A.; Koenig, R.; Kant, S. G; Stark, Z.; Cormier-Daire, V. & Wieczorek, D. et al.​ (2014) 
  The American Journal of Human Genetics, 95(6) pp. 763​-770​.​ DOI: https://doi.org/10.1016/j.ajhg.2014.11.004 
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• 2015 | Review
  ​ ​Recommendations on pre-hospital & early hospital management of acute heart failure: a consensus paper from the Heart Failure Association of the European Society of Cardiology, the European Society of Emergency Medicine and the Society of Academic Emergency Medicine​
  Mebazaa, A.; Yilmaz, M. B.; Levy, P.; Ponikowski, P.; Peacock, W. F.; Laribi, S.& Ristic, A. D. et al.​ (2015)
  European Journal of Heart Failure, 17​(6) pp. 544​-558​.​
  Wiley-blackwell. DOI: https://doi.org/10.1002/ejhf.289 
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• 2015 | Journal Article | Research Paper
  ​ ​Mutations in XRCC4 cause primary microcephaly, short stature and increased genomic instability​
  Rosin, N. ; Elcioglu, N. H.; Beleggia, F.; Isguven, P.; Altmüller, J.; Thiele, H. & Steindl, K. et al.​ (2015) 
  Human Molecular Genetics, 24(13) pp. 3708​-3717​.​ DOI: https://doi.org/10.1093/hmg/ddv115 
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• 2015 | Journal Article | Research Paper
  ​ ​Economic implications of intra-aortic balloon support for myocardial infarction with cardiogenic shock: an analysis from the IABP-SHOCK II-trial​
  Schuster, A. ; Faulkner, M.; Zeymer, U.; Ouarrak, T.; Eitel, I.; Desch, S. & Hasenfuß, G.  et al.​ (2015) 
  Clinical Research in Cardiology, 104(7) pp. 566​-573​.​ DOI: https://doi.org/10.1007/s00392-015-0819-2 
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• 2015 | Journal Article | Research Paper | 
  ​ ​Clinical Features and Outcomes of Takotsubo (Stress) Cardiomyopathy​
  Templin, C.; Ghadri, J. R.; Diekmann, J.; Napp, L. C.; Bataiosu, D. R.; Jaguszewski, M. & Cammann, V. L. et al.​ (2015) 
  New England Journal of Medicine, 373(10) pp. 929​-938​.​ DOI: https://doi.org/10.1056/NEJMoa1406761 
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• 2016 | Journal Article
  ​ ​Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome​
  Basmanav, F. B. U.; Cau, L.; Tafazzoli, A.; Mechin, M.-C.; Wolf, S.; Romano, M. T. & Valentin, F. et al.​ (2016) 
  The American Journal of Human Genetics, 99(6) pp. 1292​-1304​.​ DOI: https://doi.org/10.1016/j.ajhg.2016.10.004 
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• 2016 | Journal Article | Letter Note
  ​ ​Mutations in SEC24D cause autosomal recessive osteogenesis imperfecta​
  Moosa, S.; Chung, B. H. Chung, B. H.-Y.; Tung, J. Y. Tung, J. Y.-L.; Altmueller, J.; Thiele, H.; Nuernberg, P. & Netzer, C. et al.​ (2016) 
  Clinical Genetics, 89(4) pp. 517​-519​.​ DOI: https://doi.org/10.1111/cge.12678 
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• 2016 | Journal Article
  ​ ​Cover Image, Volume 170A, Number 9, September 2016​
  Moosa, S. ; Fano, V.; Obregon, M. G.; Altmüller, J.; Thiele, H.; Nürnberg, P. & Nishimura, G. et al.​ (2016) 
  American Journal of Medical Genetics Part A, 170(9).​ DOI: https://doi.org/10.1002/ajmg.a.37884 
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• 2016 | Journal Article | Letter Note
  ​ ​A Novel Homozygous PAM16 Mutation in a Patient with a Milder Phenotype and Longer Survival​
  Moosa, S. ; Fano, V.; Obregon, M. G.; Altmüller, J.; Thiele, H.; Nürnberg, P. & Nishimura, G. et al.​ (2016) 
  American Journal of Medical Genetics, 170(9) pp. 2436​-2439​.​ DOI: https://doi.org/10.1002/ajmg.a.37823 
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• 2016 | Journal Article | Research Paper
  ​ ​Novel IFT122 Mutations in Three Argentinian Patients with Cranioectodermal Dysplasia: Expanding the Mutational Spectrum​
  Moosa, S. ; Obregon, M. G.; Altmüller, J.; Thiele, H.; Nürnberg, P.; Fano, V. & Wollnik, B. ​ (2016) 
  American Journal of Medical Genetics, 170(5) pp. 1295​-1301​.​ DOI: https://doi.org/10.1002/ajmg.a.37570 
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• 2016 | Journal Article | Research Paper
  ​ ​TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism​
  Harley, M. E.; Murina, O.; Leitch, A.; Higgs, M. R.; Bicknell, L. S.; Yigit, G.   & Blackford, A. N. et al.​ (2016) 
  Nature Genetics, 48(1) pp. 36​-+​.​ DOI: https://doi.org/10.1038/ng.3451 
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• 2016 | Journal Article | Research Paper
  ​ ​A systematic comparison of two new releases of exome sequencing products: the aim of use determines the choice of product​
  Altmüller, J.; Motameny, S.; Becker, C.; Thiele, H.; Chatterjee, S.; Wollnik, B.   & Nürnberg, P.​ (2016) 
  Biological Chemistry, 397(8) pp. 791​-801​.​ DOI: https://doi.org/10.1515/hsz-2015-0300 
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• 2016 | Journal Article
  ​ ​Happy heart syndrome: role of positive emotional stress in takotsubo syndrome​
  Ghadri, J. R.; Sarcon, A.; Diekmann, J.; Bataiosu, D. R.; Cammann, V. L.; Jurisic, S. & Napp, L. C. et al.​ (2016) 
  European Heart Journal, 37(37) pp. 2823​-2829​.​ DOI: https://doi.org/10.1093/eurheartj/ehv757 
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• 2016 | Journal Article | 
  ​ ​Identification and Functional Testing of ERCC2 Mutations in a Multi-national Cohort of Patients with Familial Breast- and Ovarian Cancer​
  Rump, A.; Benet-Pages, A.; Schubert, S.; Kuhlmann, J. D.; Janavičius, R.; Macháčková, E. & Foretová, L. et al.​ (2016) 
  PLOS Genetics, 12(8) art. e1006248​.​ DOI: https://doi.org/10.1371/journal.pgen.1006248 
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• 2016 | Journal Article | Research Paper
  ​ ​A Syndrome of Microcephaly, Short Stature, Polysyndactyly, and Dental Anomalies Caused by a Homozygous KATNB1 Mutation​
  Yigit, G. ; Wieczorek, D.; Boegershausen, N.; Beleggia, F.; Moeller-Hartmann, C.; Altmüller, J. & Thiele, H. et al.​ (2016) 
  American Journal of Medical Genetics, 170(3) pp. 728​-733​.​ DOI: https://doi.org/10.1002/ajmg.a.37484 
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• 2017 | Journal Article
  ​ ​Confirmation of CAGSSS syndrome as a distinct entity in a Danish patient with a novel homozygous mutation inIARS2​
  Moosa, S. ; Haagerup, A.; Gregersen, P. A.; Petersen, K. K.; Altmüller, J.; Thiele, H. & Nürnberg, P. et al.​ (2017) 
  American Journal of Medical Genetics Part A, 173(4) pp. 1102​-1108​.​ DOI: https://doi.org/10.1002/ajmg.a.38116 
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• 2017 | Journal Article
  ​ ​PCI Strategies in Patients with Acute Myocardial Infarction and Cardiogenic Shock​
  Thiele, H.; Akin, I.; Sandri, M.; Fuernau, G.; de Waha, S.; Meyer-Saraei, R. & Nordbeck, P. et al.​ (2017) 
  New England Journal of Medicine, 377(25) pp. 2419​-2432​.​ DOI: https://doi.org/10.1056/nejmoa1710261 
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• 2017 | Journal Article
  ​ ​A new CUL4B variant associated with a mild phenotype and an exceptional pattern of leukoencephalopathy​
  Weissbach, S. ; Reinert, M.-C. ; Altmüller, J.; Krätzner, R. ; Thiele, H.; Rosenbaum, T. & Nürnberg, P. et al.​ (2017) 
  American Journal of Medical Genetics Part A, 173(10) pp. 2803​-2807​.​ DOI: https://doi.org/10.1002/ajmg.a.38390 
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• 2017 | Journal Article | 
  ​ ​Activating de novo mutations in NFE2L2 encoding NRF2 cause a multisystem disorder​
  Huppke, P. ; Weissbach, S. ; Church, J. A.; Schnur, R.; Krusen, M.; Dreha-Kulaczewski, S.   & Kühn-Velten, W. N. et al.​ (2017) 
  Nature Communications, 8(1) art. 818​.​ DOI: https://doi.org/10.1038/s41467-017-00932-7 
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• 2017 | Journal Article | 
  ​ ​MR Imaging in Patients with Cardiac Pacemakers and Implantable Cardioverter Defibrillators Consensus Paper of the German Cardiac Society and the German Roentgen Society​
  Sommer, T.; Bauer, W.; Fischbach, K.; Kolb, C.; Luechinger, R.; Wiegand, U. & Lotz, J.  et al.​ (2017) 
  ROFO-FORTSCHRITTE AUF DEM GEBIET DER RONTGENSTRAHLEN UND DER BILDGEBENDEN VERFAHREN, 189(3) pp. 204​-217​.​ DOI: https://doi.org/10.1055/s-0043-102029 
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• 2017 | Journal Article | Research Paper
  ​ ​De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction​
  Ehmke, N.; Graul-Neumann, L.; Smorag, L. ; Koenig, R.; Segebrecht, L.; Magoulas, P. & Scaglia, F. et al.​ (2017) 
  The American Journal of Human Genetics, 101(5) pp. 833​-843​.​ DOI: https://doi.org/10.1016/j.ajhg.2017.09.016 
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• 2017 | Journal Article | Research Paper | 
  ​ ​Catecholamine-Dependent β-Adrenergic Signaling in a Pluripotent Stem Cell Model of Takotsubo Cardiomyopathy​
  Borchert, T. ; Hübscher, D. ; Guessoum, C. I. ; Lam, T. Lam, Tuan-Dinh D.; Ghadri, J. R.; Schellinger, I. N.   & Tiburcy, M.  et al.​ (2017) 
  Journal of the American College of Cardiology, 70(8) pp. 975​-991​.​ DOI: https://doi.org/10.1016/j.jacc.2017.06.061 
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• 2017 | Journal Article
  ​ ​De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development​
  Gordon, C. T.; Xue, S.; Yigit, G. ; Filali, H.; Chen, K.; Rosin, N.   & Yoshiura, K.-i. et al.​ (2017) 
  Nature Genetics, 49(2) pp. 249​-255​.​ DOI: https://doi.org/10.1038/ng.3765 
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• 2018 | Journal Article
  ​ ​Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency​
  Alston, C. L.; Heidler, J.; Dibley, M. G.; Kremer, L. S.; Taylor, L. S.; Fratter, C. & French, C. E. et al.​ (2018) 
  The American Journal of Human Genetics, 103(4) pp. 592​-601​.​ DOI: https://doi.org/10.1016/j.ajhg.2018.08.013 
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• 2018 | Journal Article
  ​ ​Left ventricular myocardial deformation in Takotsubo syndrome: a cardiovascular magnetic resonance myocardial feature tracking study​
  Stiermaier, T.; Lange, T.; Chiribiri, A.; Möller, C.; Graf, T.; Villnow, C. & Raaz, U.  et al.​ (2018) 
  European Radiology, 28(12) pp. 5160​-5170​.​ DOI: https://doi.org/10.1007/s00330-018-5475-2 
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• 2018 | Journal Article
  ​ ​Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex​
  Romano, M.-T.; Tafazzoli, A.; Mattern, M.; Sivalingam, S.; Wolf, S.; Rupp, A. & Thiele, H. et al.​ (2018) 
  The American Journal of Human Genetics, 103(5) pp. 777​-785​.​ DOI: https://doi.org/10.1016/j.ajhg.2018.09.011 
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• 2018 | Journal Article
  ​ ​Cardiac Magnetic Resonance Myocardial Feature Tracking for Optimized Prediction of Cardiovascular Events Following Myocardial Infarction​
  Eitel, I.; Stiermaier, T.; Lange, T.; Rommel, K.-P.; Koschalka, A.; Kowallick, J. T.   & Lotz, J.  et al.​ (2018) 
  JACC: Cardiovascular Imaging,.​ DOI: https://doi.org/10.1016/j.jcmg.2017.11.034 
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• 2018 | Journal Article
  ​ ​Temporal changes within mechanical dyssynchrony and rotational mechanics in Takotsubo syndrome: A cardiovascular magnetic resonance imaging study​
  Backhaus, S. J.; Stiermaier, T.; Lange, T.; Chiribiri, A.; Lamata, P.; Uhlig, J. & Kowallick, J. T.  et al.​ (2018) 
  International Journal of Cardiology, 273 pp. 256​-262​.​ DOI: https://doi.org/10.1016/j.ijcard.2018.04.088 
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• 2018 | Journal Article | 
  ​ ​Right ventricular strain assessment by cardiovascular magnetic resonance myocardial feature tracking allows optimized risk stratification in Takotsubo syndrome​
  Stiermaier, T.; Lange, T.; Chiribiri, A.; Möller, C.; Graf, T.; Raaz, U.   & Villa, A. et al.​ (2018) 
  PLoS One, 13(8) pp. e0202146​.​ DOI: https://doi.org/10.1371/journal.pone.0202146 
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• 2018 | Journal Article
  ​ ​Long-Term Prognosis of Patients With Takotsubo Syndrome​
  Ghadri, J. R; Kato, K.; Cammann, V. L; Gili, S.; Jurisic, S.; Di Vece, D. & Candreva, A. et al.​ (2018) 
  Journal of the American College of Cardiology, 72(8) pp. 874​-882​.​ DOI: https://doi.org/10.1016/j.jacc.2018.06.016 
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• 2019 | Journal Article
  ​ ​Left Atrial Function with MRI Enables Prediction of Cardiovascular Events after Myocardial Infarction: Insights from the AIDA STEMI and TATORT NSTEMI Trials​
  Schuster, A. ; Backhaus, S. J.; Stiermaier, T.; Navarra, J.-L.; Uhlig, J.; Rommel, K.-P. & Koschalka, A. et al.​ (2019) 
  Radiology, 293(2) pp. 292​-302​.​ DOI: https://doi.org/10.1148/radiol.2019190559 
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• 2019 | Journal Article
  ​ ​Homozygous NMNAT2 mutation in sisters with polyneuropathy and erythromelalgia​
  Huppke, P. ; Wegener, E.; Gilley, J.; Angeletti, C.; Kurth, I.; Drenth, J. P. & Stadelmann, C.  et al.​ (2019) 
  Experimental Neurology, 320 pp. 112958​.​ DOI: https://doi.org/10.1016/j.expneurol.2019.112958 
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• 2019 | Journal Article
  ​ ​Right atrial–right ventricular coupling in heart failure with preserved ejection fraction​
  von Roeder, M.; Kowallick, J. T. ; Rommel, K.-P.; Blazek, S.; Besler, C.; Fengler, K. & Lotz, J.  et al.​ (2019) 
  Clinical Research in Cardiology, 109(1) pp. 54​-66​.​ DOI: https://doi.org/10.1007/s00392-019-01484-0 
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• 2019 | Journal Article
  ​ ​Homozygosity for the c.428delG variant in KIAA0586 in a healthy individual: implications for molecular testing in patients with Joubert syndrome​
  Pauli, S. ; Altmüller, J.; Schröder, S.; Ohlenbusch, A. ; Dreha-Kulaczewski, S. ; Bergmann, C. & Nürnberg, P. et al.​ (2019) 
  Journal of Medical Genetics, 56(4) pp. 261​-264​.​ DOI: https://doi.org/10.1136/jmedgenet-2018-105470 
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• 2019 | Journal Article
  ​ ​F129EXOME SEQUENCING WITH SUBSEQUENT MULTI-TIER ANALYSES IN A LARGE COHORT OF MULTIPLY AFFECTED FAMILIES PROVIDES NEW INSIGHT INTO SCHIZOPHRENIA​
  Koller, A.; Greve, C.; Kaurani, L. ; Klockmeier, K.; Degenhardt, F. C.; Maaser, A. & Forstner, A. J. et al.​ (2019) 
  European Neuropsychopharmacology, 29 pp. S1180​-S1181​.​ DOI: https://doi.org/10.1016/j.euroneuro.2018.08.209 
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• 2019 | Journal Article
  ​ ​EXOME-SEQUENCING IN DENSLY AFFECTED PEDIGREES IDENTIFIES NEW CANDIDATE GENES FOR SCHIZOPHRENIA​
  Degenhardt, F.; Koller, A. C.; Kaurani, L. ; Worf, K.; Degenhardt, F. C.; Klockmeier, K. & Andlauer, T. et al.​ (2019) 
  European Neuropsychopharmacology, 29 pp. S1005​.​ DOI: https://doi.org/10.1016/j.euroneuro.2017.08.399 
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• 2019 | Journal Article
  ​ ​Atrial mechanics and their prognostic impact in Takotsubo syndrome: a cardiovascular magnetic resonance imaging study​
  Backhaus, S. J; Stiermaier, T.; Lange, T.; Chiribiri, A.; Uhlig, J.; Freund, A. & Kowallick, J. T  et al.​ (2019) 
  European Heart Journal - Cardiovascular Imaging, 20(9) pp. 1059​-1069​.​ DOI: https://doi.org/10.1093/ehjci/jey219 
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• 2019 | Journal Article | 
  ​ ​Cardiac Magnetic Resonance Left Ventricular Mechanical Uniformity Alterations for Risk Assessment After Acute Myocardial Infarction​
  Stiermaier, T.; Backhaus, S. J.; Lange, T.; Koschalka, A.; Navarra, J.; Boom, P. & Lamata, P. et al.​ (2019) 
  Journal of the American Heart Association, 8(16).​ DOI: https://doi.org/10.1161/JAHA.118.011576 
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• 2019 | Journal Article | 
  ​ ​Clinical Predictors and Prognostic Impact of Recovery of Wall Motion Abnormalities in Takotsubo Syndrome: Results From the International Takotsubo Registry​
  Jurisic, S.; Gili, S.; Cammann, V. L.; Kato, K.; Szawan, K. A.; D'Ascenzo, F. & Jaguszewski, M. et al.​ (2019) 
  Journal of the American Heart Association, 8(21).​ DOI: https://doi.org/10.1161/JAHA.118.011194 
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• 2019 | Journal Article | 
  ​ ​A rare heterozygous TREM2 coding variant identified in familial clustering of dementia affects an intrinsically disordered protein region and function of TREM2​
  Karsak, M.; Glebov, K.; Scheffold, M.; Bajaj, T.; Kawalia, A.; Karaca, I. & Rading, S. et al.​ (2019) 
  Human Mutation, 41(1) pp. 1​-13​.​ DOI: https://doi.org/10.1002/humu.23904 
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• 2019 | Journal Article
  ​ ​Culprit vessel-related myocardial mechanics and prognostic implications following acute myocardial infarction​
  Backhaus, S. J.; Kowallick, J. T. ; Stiermaier, T.; Lange, T.; Koschalka, A.; Navarra, J.-L. & Lotz, J.  et al.​ (2019) 
  Clinical Research in Cardiology, pp. 1​-11​.​ DOI: https://doi.org/10.1007/s00392-019-01514-x 
  ​Details  DOI  PMID  PMC 

• 2019 | Journal Article
  ​ ​Prediction of short- and long-term mortality in takotsubo syndrome: the InterTAK Prognostic Score​
  Wischnewsky, M. B; Candreva, A.; Bacchi, B.; Cammann, V. L; Kato, K.; Szawan, K. A & Gili, S. et al.​ (2019) 
  European Journal of Heart Failure, 21(11) pp. 1469​-1472​.​ DOI: https://doi.org/10.1002/ejhf.1561 
  ​Details  DOI  PMID  PMC 

• 2019 | Journal Article
  ​ ​Clinical Features and Outcomes of Patients With Malignancy and Takotsubo Syndrome: Observations From the International Takotsubo Registry​
  Cammann, V. L.; Sarcon, A.; Ding, K. J.; Seifert, B.; Kato, K.; Di Vece, D. & Szawan, K. A. et al.​ (2019) 
  Journal of the American Heart Association, 8(15) art. e010881​.​ DOI: https://doi.org/10.1161/JAHA.118.010881 
  ​Details  DOI  PMID  PMC 

• 2019 | Journal Article | 
  ​ ​Germline loss-of-function variants in the BARD1 gene are associated with early-onset familial breast cancer but not ovarian cancer​
  Weber-Lassalle, N.; Borde, J.; Weber-Lassalle, K.; Horváth, J.; Niederacher, D.; Arnold, N. & Kaulfuß, S. et al.​ (2019) 
  Breast Cancer Research, 21(1) art. 55​.​ DOI: https://doi.org/10.1186/s13058-019-1137-9 
  ​Details  DOI  PMID  PMC 

• 2019 | Journal Article
  ​ ​Outcomes Associated With Cardiogenic Shock in Takotsubo Syndrome​
  Di Vece, D.; Citro, R.; Cammann, V. L.; Kato, K.; Gili, S.; Szawan, K. A. & Micek, J. et al.​ (2019) 
  Circulation, 139(3) pp. 413​-415​.​ DOI: https://doi.org/10.1161/CIRCULATIONAHA.118.036164 
  ​Details  DOI  PMID  PMC 

• 2019 | Journal Article | 
  ​ ​Cardiac arrest in takotsubo syndrome: results from the InterTAK Registry​
  Gili, S.; Cammann, V. L.; Schlossbauer, S. A.; Kato, K.; D'Ascenzo, F.; Di Vece, D. & Jurisic, S. et al.​ (2019) 
  European Heart Journal, 40(26) pp. 2142​-2151​.​ DOI: https://doi.org/10.1093/eurheartj/ehz170 
  ​Details  DOI  PMID  PMC 

• 2019 | Journal Article
  ​ ​Atrioventricular mechanical coupling and major adverse cardiac events in female patients following acute ST elevation myocardial infarction​
  Backhaus, S. J.; Kowallick, J. T. ; Stiermaier, T.; Lange, T.; Koschalka, A.; Navarra, J.-L. & Uhlig, J. et al.​ (2019) 
  International Journal of Cardiology,.​ DOI: https://doi.org/10.1016/j.ijcard.2019.06.036 
  ​Details  DOI  PMID  PMC 

• 2019 | Journal Article
  ​ ​Fast manual long-axis strain assessment provides optimized cardiovascular event prediction following myocardial infarction​
  Schuster, A. ; Backhaus, S. J; Stiermaier, T.; Kowallick, J. T. ; Stulle, A.; Koschalka, A. & Lotz, J.  et al.​ (2019) 
  European Heart Journal - Cardiovascular Imaging, 20(11) pp. 1262​-1270​.​ DOI: https://doi.org/10.1093/ehjci/jez077 
  ​Details  DOI  PMID  PMC 

• 2020 | Journal Article
  ​ ​Cardiac Magnetic Resonance Myocardial Feature Tracking for Optimized Risk Assessment After Acute Myocardial Infarction in Patients With Type 2 Diabetes​
  Backhaus, S. J.; Kowallick, J. T. ; Stiermaier, T.; Lange, T.; Navarra, J.-L.; Koschalka, A. & Evertz, R. et al.​ (2020) 
  Diabetes, 69(7) pp. 1540​-1548​.​ DOI: https://doi.org/10.2337/db20-0001 
  ​Details  DOI 

• 2020 | Journal Article
  ​ ​Inferior vena cava ultrasound in acute decompensated heart failure: design rationale of the CAVA‐ADHF‐DZHK10 trial​
  Jobs, A.; Vonthein, R.; König, I. R.; Schäfer, J.; Nauck, M.; Haag, S. & Fichera, C. F. et al.​ (2020) 
  ESC Heart Failure, 7(3) pp. 973​-983​.​ DOI: https://doi.org/10.1002/ehf2.12598 
  ​Details  DOI 

• 2020 | Journal Article | 
  ​ ​Prognostic Value of Different CMR-Based Techniques to Assess Left Ventricular Myocardial Strain in Takotsubo Syndrome​
  Stiermaier, T.; Busch, K.; Lange, T.; Pätz, T.; Meusel, M.; Backhaus, S. J. & Frydrychowicz, A. et al.​ (2020) 
  Journal of Clinical Medicine, 9(12) pp. 3882​.​ DOI: https://doi.org/10.3390/jcm9123882 
  ​Details  DOI 

• 2020 | Journal Article | 
  ​ ​Fully Automated Cardiac Assessment for Diagnostic and Prognostic Stratification Following Myocardial Infarction​
  Schuster, A. ; Lange, T.; Backhaus, S. J.; Strohmeyer, C.; Boom, P. C.; Matz, J. & Kowallick, J. T.  et al.​ (2020) 
  Journal of the American Heart Association, 9(18).​ DOI: https://doi.org/10.1161/JAHA.120.016612 
  ​Details  DOI 

• 2020 | Journal Article | 
  ​ ​Impact of Right Atrial Physiology on Heart Failure and Adverse Events after Myocardial Infarction​
  Schuster, A. ; Backhaus, S. J.; Stiermaier, T.; Navarra, J.-L.; Uhlig, J.; Rommel, K.-P. & Koschalka, A. et al.​ (2020) 
  Journal of Clinical Medicine, 9(1) pp. 210​.​ DOI: https://doi.org/10.3390/jcm9010210 
  ​Details  DOI 

• 2020 | Journal Article | 
  ​ ​Functional and prognostic implications of cardiac magnetic resonance feature tracking-derived remote myocardial strain analyses in patients following acute myocardial infarction​
  Lange, T.; Stiermaier, T.; Boom, P. C.; Kowallick, J. T. ; de Waha-Thiele, S.; Lotz, J.   & Kutty, S. et al.​ (2020) 
  Clinical Research in Cardiology, 110(2) pp. 270​-280​.​ DOI: https://doi.org/10.1007/s00392-020-01747-1 
  ​Details  DOI 

• 2020 | Journal Article
  ​ ​Intraventricular Thrombus Formation and Embolism in Takotsubo Syndrome: Insights From the International Takotsubo Registry​
  Ding, K. J; Cammann, V. L; Szawan, K. A; Stähli, B. E; Wischnewsky, M.; Di Vece, D. & Citro, R. et al.​ (2020) 
  Arteriosclerosis, Thrombosis, and Vascular Biology, 40(1) pp. 279​-287​.​ DOI: https://doi.org/10.1161/ATVBAHA.119.313491 
  ​Details  DOI  PMID  PMC 

• 2020 | Journal Article | Research Paper | 
  ​ ​De novo mutations in FBRSL1 cause a novel recognizable malformation and intellectual disability syndrome​
  Ufartes, R.; Berger, H.; Till, K.; Salinas, G. ; Sturm, M.; Altmüller, J. & Nürnberg, P. et al.​ (2020) 
  Human Genetics, 139(11) pp. 1363​-1379​.​ DOI: https://doi.org/10.1007/s00439-020-02175-x 
  ​Details  DOI  PMID  PMC 

• 2020 | Journal Article | Research Paper | 
  ​ ​Bi-allelic missense disease-causing variants in RPL3L associate neonatal dilated cardiomyopathy with muscle-specific ribosome biogenesis​
  Ganapathi, M.; Argyriou, L.; Martínez-Azorín, F.; Morlot, S.; Yigit, G. ; Lee, T. M. & Auber, B. et al.​ (2020) 
  Human Genetics, 139(11) pp. 1443​-1454​.​ DOI: https://doi.org/10.1007/s00439-020-02188-6 
  ​Details  DOI  PMID  PMC 

• 2020 | Journal Article
  ​ ​Impact of aspirin on takotsubo syndrome: a propensity score-based analysis of the InterTAK Registry​
  D'Ascenzo, F.; Gili, S.; Bertaina, M.; Iannaccone, M.; Cammann, V. L; Di Vece, D. & Kato, K. et al.​ (2020) 
  European Journal of Heart Failure, 22(2) pp. 330​-337​.​ DOI: https://doi.org/10.1002/ejhf.1698 
  ​Details  DOI  PMID  PMC 

• 2020 | Journal Article
  ​ ​Coexistence and outcome of coronary artery disease in Takotsubo syndrome​
  Napp, L C.; Cammann, V. L; Jaguszewski, M.; Szawan, K. A; Wischnewsky, M.; Gili, S. & Knorr, M. et al.​ (2020) 
  European Heart Journal,.​ DOI: https://doi.org/10.1093/eurheartj/ehaa210 
  ​Details  DOI  PMID  PMC 

• 2021 | Journal Article
  ​ ​Frequency and prognostic impact of right ventricular involvement in acute myocardial infarction​
  Stiermaier, T.; Backhaus, S. J; Matz, J.; Koschalka, A.; Kowallick, J. ; de Waha-Thiele, S. & Desch, S. et al.​ (2021) 
  Heart, 107(7) pp. 563​-570​.​ DOI: https://doi.org/10.1136/heartjnl-2020-317184 
  ​Details  DOI 

• 2021 | Journal Article
  ​ ​Extracorporeal life support in patients with acute myocardial infarction complicated by cardiogenic shock - Design and rationale of the ECLS-SHOCK trial​
  Thiele, H.; Freund, A.; Gimenez, M. R.; de Waha-Thiele, S.; Akin, I.; Pöss, J. & Feistritzer, H.-J. et al.​ (2021) 
  American Heart Journal, 234 pp. 1​-11​.​ DOI: https://doi.org/10.1016/j.ahj.2021.01.002 
  ​Details  DOI 

• 2021 | Journal Article
  ​ ​Angiography after Out-of-Hospital Cardiac Arrest without ST-Segment Elevation​
  Desch, S.; Freund, A.; Akin, I.; Behnes, M.; Preusch, M. R.; Zelniker, T. A. & Skurk, C. et al.​ (2021) 
  New England Journal of Medicine, art. NEJMoa2101909​.​ DOI: https://doi.org/10.1056/NEJMoa2101909 
  ​Details  DOI 

• 2021 | Journal Article
  ​ ​Iron deficiency in heart failure​
  Loncar, G.; Obradovic, D.; Thiele, H.; von Haehling, S. & Lainscak, M.​ (2021) 
  ESC Heart Failure, 8(4) pp. 2368​-2379​.​ DOI: https://doi.org/10.1002/ehf2.13265 
  ​Details  DOI 

• 2021 | Journal Article
  ​ ​Kompetenz und Innovation in der kardiovaskulären MRT: Stellungnahme der Deutschen Gesellschaft für Kardiologie – Herz- und Kreislaufforschung​
  Schuster, A.; Thiele, H.; Katus, H.; Werdan, K.; Eitel, I.; Zeiher, A. M. & Baldus, S. et al.​ (2021) 
  Der Kardiologe, 15(5) pp. 471​-479​.​ DOI: https://doi.org/10.1007/s12181-021-00494-5 
  ​Details  DOI 

• 2021 | Journal Article | Research Paper | 
  ​ ​A novel remitting leukodystrophy associated with a variant in FBP2​
  Gizak, A.; Diegmann, S.; Dreha-Kulaczewski, S.; Wiśniewski, J.; Duda, P.; Ohlenbusch, A. & Huppke, B. et al.​ (2021) 
  Brain Communications, 3(2) pp. fcab036​.​ DOI: https://doi.org/10.1093/braincomms/fcab036 
  ​Details  DOI  PMID  PMC 

• 2021 | Journal Article | Research Paper
  ​ ​MFSD2A-associated primary microcephaly - Expanding the clinical and mutational spectrum of this ultra-rare disease​
  Khuller, K.; Yigit, G.; Martínez Grijalva, C.; Altmüller, J.; Thiele, H.; Nürnberg, P. & Elcioglu, N. H. et al.​ (2021) 
  European Journal of Medical Genetics, 64(10) art. S1769721221001762​.​ DOI: https://doi.org/10.1016/j.ejmg.2021.104310 
  ​Details  DOI  PMID  PMC 

• 2021 | Journal Article | Research Paper | 
  ​ ​Biallelic variants in YRDC cause a developmental disorder with progeroid features​
  Schmidt, J.; Goergens, J.; Pochechueva, T.; Kotter, A.; Schwenzer, N.; Sitte, M. & Werner, G. et al.​ (2021) 
  Human Genetics, 140(12) pp. 1679​-1693​.​ DOI: https://doi.org/10.1007/s00439-021-02347-3 
  ​Details  DOI  PMID  PMC 

• 2021 | Journal Article | Research Paper | 
  ​ ​Familial cleft tongue caused by a unique translation initiation codon variant in TP63​
  Schmidt, J.; Schreiber, G.; Altmüller, J.; Thiele, H.; Nürnberg, P.; Li, Y. & Kaulfuß, S. et al.​ (2021) 
  European Journal of Human Genetics, 30(2) pp. 211​-218​.​ DOI: https://doi.org/10.1038/s41431-021-00967-x 
  ​Details  DOI  PMID  PMC 

• 2022 | Journal Article
  ​ ​Phänotypische Vielfalt bei Varianten im TP63 ‐Gen​
  Schmetz, A.; Xiong, X.; Cesarato, N.; Basmanav, F. B.; Gierthmuehlen, P.; Schaper, J. & Schlieper, D. et al.​ (2022) 
  Journal der Deutschen Dermatologischen Gesellschaft, 20(6) pp. 871​-875​.​ DOI: https://doi.org/10.1111/ddg.14770_g 
  ​Details  DOI 

• 2022 | Journal Article
  ​ ​Phenotype diversity associated with TP63 mutations​
  Schmetz, A.; Xiong, X.; Cesarato, N.; Basmanav, F. B.; Gierthmuehlen, P.; Schaper, J. & Schlieper, D. et al.​ (2022) 
  Journal der Deutschen Dermatologischen Gesellschaft, art. ddg.14770​.​ DOI: https://doi.org/10.1111/ddg.14770 
  ​Details  DOI 

• 2022 | Journal Article | 
  ​ ​Understanding and Improving Risk Assessment After Myocardial Infarction Using Automated Left Ventricular Shape Analysis​
  Corral Acero, J.; Schuster, A. ; Zacur, E.; Lange, T.; Stiermaier, T.; Backhaus, S. J.   & Thiele, H. et al.​ (2022) 
  JACC: Cardiovascular Imaging, 15(9) pp. 1563​-1574​.​ DOI: https://doi.org/10.1016/j.jcmg.2021.11.027 
  ​Details  DOI 

• 2022 | Book Chapter
  ​ ​Post-Infarction Risk Prediction with Mesh Classification Networks​
  Beetz, M.; Acero, J. C.; Banerjee, A.; Eitel, I.; Zacur, E.; Lange, T.& Stiermaier, T. et al.​ (2022)
  In:​Camara, Oscar; Puyol-Antón, Esther; Qin, Chen; Sermesant, Maxime; Suinesiaputra, Avan; Wang, Shuo; Young, Alistair​ (Eds.), Statistical Atlases and Computational Models of the Heart. Regular and CMRxMotion Challenge Papers : 13th International Workshop, STACOM 2022, Held in Conjunction with MICCAI 2022, Singapore, September 18, 2022, Revised Selected Papers pp. 291​-301. ​Cham: ​Springer Nature Switzerland. DOI: https://doi.org/10.1007/978-3-031-23443-9_27 
  ​Details  DOI 

• 2022 | Book Chapter
  ​ ​Mesh U-Nets for 3D Cardiac Deformation Modeling​
  Beetz, M.; Acero, J. C.; Banerjee, A.; Eitel, I.; Zacur, E.; Lange, T.& Stiermaier, T. et al.​ (2022)
  In:​Camara, Oscar; Puyol-Antón, Esther; Qin, Chen; Sermesant, Maxime; Suinesiaputra, Avan; Wang, Shuo; Young, Alistair​ (Eds.), Statistical Atlases and Computational Models of the Heart. Regular and CMRxMotion Challenge Papers : 13th International Workshop, STACOM 2022, Held in Conjunction with MICCAI 2022, Singapore, September 18, 2022, Revised Selected Papers pp. 245​-257. ​Cham: ​Springer Nature Switzerland. DOI: https://doi.org/10.1007/978-3-031-23443-9_23 
  ​Details  DOI 

• 2022 | Journal Article | 
  ​ ​Artificial intelligence fully automated myocardial strain quantification for risk stratification following acute myocardial infarction​
  Backhaus, S. J. ; Aldehayat, H.; Kowallick, J. T. ; Evertz, R.; Lange, T.; Kutty, S. & Bigalke, B. et al.​ (2022) 
  Scientific Reports, 12(1).​ DOI: https://doi.org/10.1038/s41598-022-16228-w 
  ​Details  DOI 

• 2022 | Journal Article | 
  ​ ​Soluble ST2 Receptor: Biomarker of Left Ventricular Impairment and Functional Status in Patients with Inflammatory Cardiomyopathy​
  Obradovic, D. M.; Büttner, P.; Rommel, K.-P.; Blazek, S.; Loncar, G.; von Haehling, S. & von Roeder, M. et al.​ (2022) 
  Cells, 11(3).​ DOI: https://doi.org/10.3390/cells11030414 
  ​Details  DOI 

• 2022 | Journal Article | Research Paper | 
  ​ ​Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry​
  Dumont, M.; Weber-Lassalle, N.; Joly-Beauparlant, C.; Ernst, C.; Droit, A.; Feng, B.-J. & Dubois, S. et al.​ (2022) 
  Cancers, 14(14).​ DOI: https://doi.org/10.3390/cancers14143363 
  ​Details  DOI 

• 2022 | Journal Article | 
  ​ ​Somatic mosaicism in STAG2-associated cohesinopathies: Expansion of the genotypic and phenotypic spectrum​
  Schmidt, J. ; Dreha-Kulaczewski, S. ; Zafeiriou, M. P. ; Schreiber, M.-K.; Wilken, B.; Funke, R. & Neuhofer, C. M. et al.​ (2022) 
  Frontiers in Cell and Developmental Biology, 10.​ DOI: https://doi.org/10.3389/fcell.2022.1025332 
  ​Details  DOI  PMID  PMC 

• 2022 | Journal Article | 
  ​ ​Interpretable cardiac anatomy modeling using variational mesh autoencoders​
  Beetz, M.; Corral Acero, J.; Banerjee, A.; Eitel, I.; Zacur, E.; Lange, T. & Stiermaier, T. et al.​ (2022) 
  Frontiers in Cardiovascular Medicine, 9.​ DOI: https://doi.org/10.3389/fcvm.2022.983868 
  ​Details  DOI 

• 2023 | Journal Article | 
  ​ ​A cardiologist’s guide to machine learning in cardiovascular disease prognosis prediction​
  Kresoja, K.-P.; Unterhuber, M.; Wachter, R.; Thiele, H. & Lurz, P.​ (2023) 
  Basic Research in Cardiology, 118(1).​ DOI: https://doi.org/10.1007/s00395-023-00982-7 
  ​Details  DOI 

• 2023 | Journal Article
  ​ ​Extracorporeal Life Support in Infarct-Related Cardiogenic Shock​
  Thiele, H.; Zeymer, U.; Akin, I.; Behnes, M.; Rassaf, T.; Mahabadi, A. A. & Lehmann, R. et al.​ (2023) 
  New England Journal of Medicine, art. NEJMoa2307227​.​ DOI: https://doi.org/10.1056/NEJMoa2307227 
  ​Details  DOI 

• 2023 | Journal Article | 
  ​ ​Impact of myocardial deformation on risk prediction in patients following acute myocardial infarction​
  Lange, T.; Gertz, R. J.; Schulz, A.; Backhaus, S. J.; Evertz, R.; Kowallick, J. T. & Hasenfuß, G. et al.​ (2023) 
  Frontiers in Cardiovascular Medicine, 10 art. 1199936​.​ DOI: https://doi.org/10.3389/fcvm.2023.1199936 
  ​Details  DOI 

• 2023 | Journal Article
  ​ ​Short anagen hair syndrome: association with mono- and biallelic variants in WNT10A and a genetic overlap with male pattern hair loss​
  Cesarato, N.; Schwieger-Briel, A.; Gossmann, Y.; Henne, S. K; Hillmann, K.; Frommherz, L. H & Wehner, M. et al.​ (2023) 
  British Journal of Dermatology, art. ljad314​.​ DOI: https://doi.org/10.1093/bjd/ljad314 
  ​Details  DOI 

• 2023 | Journal Article
  ​ ​Treatment response to spironolactone in patients with heart failure with preserved ejection fraction: a machine learning-based analysis of two randomized controlled trials​
  Kresoja, K.-P.; Unterhuber, M.; Wachter, R.; Rommel, K.-P.; Besler, C.; Shah, S. & Thiele, H. et al.​ (2023) 
  EBioMedicine, 96 art. 104795​.​ DOI: https://doi.org/10.1016/j.ebiom.2023.104795 
  ​Details  DOI 

• 2023 | Journal Article | 
  ​ ​Cardiovascular magnetic resonance-derived left atrioventricular coupling index and major adverse cardiac events in patients following acute myocardial infarction​
  Lange, T.; Backhaus, S. J.; Schulz, A.; Evertz, R.; Kowallick, J. T.; Bigalke, B. & Hasenfuß, G. et al.​ (2023) 
  Journal of Cardiovascular Magnetic Resonance, 25(1) art. 24​.​ DOI: https://doi.org/10.1186/s12968-023-00929-w 
  ​Details  DOI 

• 2024 | Journal Article
  ​ ​Impact of anaemia and iron deficiency on outcomes in cardiogenic shock complicating acute myocardial infarction​
  Obradovic, D.; Loncar, G.; Zeymer, U.; Pöss, J.; Feistritzer, H.; Freund, A. & Jobs, A. et al.​ (2024) 
  European Journal of Heart Failure, art. ejhf.3099​.​ DOI: https://doi.org/10.1002/ejhf.3099 
  ​Details  DOI 

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