Author Thiele, Holger

1 to 50 of 94 Items
  • 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 genetics75(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 Genetics41(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 Neurology11(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 genetics90(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 Genetics22(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 genetics93(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 Genetics22(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 Medicine370(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 genetics95(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 Genetics95(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 Genetics24(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 Cardiology104(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 Medicine373(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 Genetics99(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 Genetics89(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 A170(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 Genetics170(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 Genetics170(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 Genetics48(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 Chemistry397(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 Journal37(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 Genetics12(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 Genetics170(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 A173(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 Medicine377(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 A173(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 Communications8(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 VERFAHREN189(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 Genetics101(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 Cardiology70(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 Genetics49(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 Genetics103(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 Radiology28(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 Genetics103(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 Cardiology273 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 One13(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 Cardiology72(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) 
    Radiology293(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 Neurology320 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 Cardiology109(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 Genetics56(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 Neuropsychopharmacology29 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 Neuropsychopharmacology29 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 Imaging20(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 Association8(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 Association8(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 Mutation41(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 
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