Author Thiele, Holger
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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
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