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Holger Thiele

TitleDr.
InstitutionUniversity of Cologne
DepartmentUniversity of Cologne, Cologne Center for Genomics
AddressCologne 50931
Phone+49 22147896814
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    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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    PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
    1. Uddin SA, Cesarato N, Humbatova A, Schmidt A, urRehman F, Naeem M, Tareen AS, Wolf S, Panezai MA, Thiele H, Wali A, Fölster-Holst R, Basit S, Ayub M, Betz RC. Apparent Missense Variant in COL7A1 Causes a Severe Form of Recessive Dystrophic Epidermolysis Bullosa via Effects on Splicing. Acta Derm Venereol. 2020 Sep 30; 100(16):adv00275. PMID: 32926178.
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    2. Schuster A, Lange T, Backhaus SJ, Strohmeyer C, Boom PC, Matz J, Kowallick JT, Lotz J, Steinmetz M, Kutty S, Bigalke B, Gutberlet M, de Waha-Thiele S, Desch S, Hasenfuß G, Thiele H, Stiermaier T, Eitel I. Fully Automated Cardiac Assessment for Diagnostic and Prognostic Stratification Following Myocardial Infarction. J Am Heart Assoc. 2020 Sep 15; 9(18):e016612. PMID: 32873121.
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    3. Barthélémy O, Jobs A, Meliga E, Mueller C, Rutten FH, Siontis GCM, Thiele H, Collet JP. Questions and answers on workup diagnosis and risk stratification: a companion document of the 2020 ESC Guidelines for the management of acute coronary syndromes in patients presenting without persistent ST-segment elevation. Eur Heart J. 2020 Aug 29. PMID: 32860030.
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    4. Orban M, Karam N, Lubos E, Kalbacher D, Braun D, Deseive S, Neuss M, Butter C, Praz F, Kassar M, Petrescu A, Pfister R, Iliadis C, Unterhuber M, Lurz P, Thiele H, Baldus S, Stephan von Bardeleben R, Blankenberg S, Massberg S, Windecker S, Hausleiter J. Impact of Proportionality of Secondary Mitral Regurgitation on Outcome After Transcatheter Mitral Valve Repair. JACC Cardiovasc Imaging. 2020 Aug 24. PMID: 32861652.
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    5. Rieke JM, Zhang R, Braun D, Yilmaz Ö, Japp AS, Lopes FM, Pleschka M, Hilger AC, Schneider S, Newman WG, Beaman GM, Nordenskjöld A, Ebert AK, Promm M, Rösch WH, Stein R, Hirsch K, Schäfer FM, Schmiedeke E, Boemers TM, Lacher M, Kluth D, Gosemann JH, Anderberg M, Barker G, Holmdahl G, Läckgren G, Keene D, Cervellione RM, Giorgio E, Di Grazia M, Feitz WFJ, Marcelis CLM, Van Rooij IALM, Bökenkamp A, Beckers GMA, Keegan CE, Sharma A, Dakal TC, Wittler L, Grote P, Zwink N, Jenetzky E, Brusco A, Thiele H, Ludwig M, Schweizer U, Woolf AS, Odermatt B, Reutter H. SLC20A1 Is Involved in Urinary Tract and Urorectal Development. Front Cell Dev Biol. 2020; 8:567. PMID: 32850778.
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    6. Pergande M, Motameny S, Özdemir Ö, Kreutzer M, Wang H, Daimagüler HS, Becker K, Karakaya M, Ehrhardt H, Elcioglu N, Ostojic S, Chao CM, Kawalia A, Duman Ö, Koy A, Hahn A, Reimann J, Schoner K, Schänzer A, Westhoff JH, Schwaibold EMC, Cossee M, Imbert-Bouteille M, von Pein H, Haliloglu G, Topaloglu H, Altmüller J, Nürnberg P, Thiele H, Heller R, Cirak S. Correction: The genomic and clinical landscape of fetal akinesia. Genet Med. 2020 Aug; 22(8):1426-1428. PMID: 32451403.
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    7. Balogh E, Chandler JC, Varga M, Tahoun M, Menyhárd DK, Schay G, Goncalves T, Hamar R, Légrádi R, Szekeres Á, Gribouval O, Kleta R, Stanescu H, Bockenhauer D, Kerti A, Williams H, Kinsler V, Di WL, Curtis D, Kolatsi-Joannou M, Hammid H, Szocs A, Perczel K, Maka E, Toldi G, Sava F, Arrondel C, Kardos M, Fintha A, Hossain A, D'Arco F, Kaliakatsos M, Koeglmeier J, Mifsud W, Moosajee M, Faro A, Jávorszky E, Rudas G, Saied MH, Marzouk S, Kelen K, Götze J, Reusz G, Tulassay T, Dragon F, Mollet G, Motameny S, Thiele H, Dorval G, Nürnberg P, Perczel A, Szabó AJ, Long DA, Tomita K, Antignac C, Waters AM, Tory K. Pseudouridylation defect due to DKC1 and NOP10 mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis. Proc Natl Acad Sci U S A. 2020 06 30; 117(26):15137-15147. PMID: 32554502.
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    8. Büttner P, Okun JG, Hauke J, Holzwirth E, Obradovic D, Hindricks G, Thiele H, Kornej J. Trimethylamine N-oxide in atrial fibrillation progression. Int J Cardiol Heart Vasc. 2020 Aug; 29:100554. PMID: 32885030.
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    9. Ganapathi M, Argyriou L, Martínez-Azorín F, Morlot S, Yigit G, Lee TM, Auber B, von Gise A, Petrey DS, Thiele H, Cyganek L, Sabater-Molina M, Ahimaz P, Cabezas-Herrera J, Sorlí-García M, Zibat A, Siegelin MD, Burfeind P, Buchovecky CM, Hasenfuss G, Honig B, Li Y, Iglesias AD, Wollnik B. Bi-allelic missense disease-causing variants in RPL3L associate neonatal dilated cardiomyopathy with muscle-specific ribosome biogenesis. Hum Genet. 2020 Nov; 139(11):1443-1454. PMID: 32514796.
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    10. Zhang R, Gehlen J, Kawalia A, Melissari MT, Dakal TC, Menon AM, Höfele J, Riedhammer K, Waffenschmidt L, Fabian J, Breuer K, Kalanithy J, Hilger AC, Sharma A, Hölscher A, Boemers TM, Pauly M, Leutner A, Fuchs J, Seitz G, Ludwikowski BM, Gomez B, Hubertus J, Heydweiller A, Kurz R, Leonhardt J, Kosch F, Holland-Cunz S, Münsterer O, Ure B, Schmiedeke E, Neser J, Degenhardt P, Märzheuser S, Kleine K, Schäfer M, Spychalski N, Deffaa OJ, Gosemann JH, Lacher M, Heilmann-Heimbach S, Zwink N, Jenetzky E, Ludwig M, Grote P, Schumacher J, Thiele H, Reutter H. Human exome and mouse embryonic expression data implicate ZFHX3, TRPS1, and CHD7 in human esophageal atresia. PLoS One. 2020; 15(6):e0234246. PMID: 32502225.
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    11. Freund A, Jobs A, Lurz P, Feistritzer HJ, de Waha-Thiele S, Meyer-Saraei R, Montalescot G, Huber K, Noc M, Windecker S, Zeymer U, Ouarrak T, Schneider S, Thiele H, Desch S. Frequency and Impact of Bleeding on Outcome in Patients With Cardiogenic Shock. JACC Cardiovasc Interv. 2020 May 25; 13(10):1182-1193. PMID: 32438988.
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    12. Ufartes R, Berger H, Till K, Salinas G, Sturm M, Altmüller J, Nürnberg P, Thiele H, Funke R, Apeshiotis N, Langen H, Wollnik B, Borchers A, Pauli S. De novo mutations in FBRSL1 cause a novel recognizable malformation and intellectual disability syndrome. Hum Genet. 2020 Nov; 139(11):1363-1379. PMID: 32424618.
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    13. Hashmi JA, Fadhli F, Almatrafi A, Afzal S, Ramzan K, Thiele H, Nürnberg P, Basit S. Homozygosity mapping and whole exome sequencing provide exact diagnosis of Cohen syndrome in a Saudi family. Brain Dev. 2020 Sep; 42(8):587-593. PMID: 32402540.
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    14. Pohl-Rescigno E, Hauke J, Loibl S, Möbus V, Denkert C, Fasching PA, Kayali M, Ernst C, Weber-Lassalle N, Hanusch C, Tesch H, Müller V, Altmüller J, Thiele H, Untch M, Lübbe K, Nürnberg P, Rhiem K, Furlanetto J, Lederer B, Jackisch C, Nekljudova V, Schmutzler RK, Schneeweiss A, Hahnen E. Association of Germline Variant Status With Therapy Response in High-risk Early-Stage Breast Cancer: A Secondary Analysis of the GeparOcto Randomized Clinical Trial. JAMA Oncol. 2020 May 01; 6(5):744-748. PMID: 32163106.
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    15. Keller N, Mendoza-Ferreira N, Maroofian R, Chelban V, Khalil Y, Mills PB, Boostani R, Torbati PN, Karimiani EG, Thiele H, Houlden H, Wirth B, Karakaya M. Hereditary polyneuropathy with optic atrophy due to PDXK variant leading to impaired Vitamin B6 metabolism. Neuromuscul Disord. 2020 Jul; 30(7):583-589. PMID: 32522499.
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    16. Malki L, Sarig O, Cesarato N, Mohamad J, Canter T, Assaf S, Pavlovsky M, Vodo D, Anis Y, Bihari O, Malovitski K, Gat A, Thiele H, White BEP, Samuelov L, Nanda A, Paller AS, Betz RC, Sprecher E. Loss-of-function variants in C3ORF52 result in localized autosomal recessive hypotrichosis. Genet Med. 2020 Jul; 22(7):1227-1234. PMID: 32336749.
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    17. Backhaus SJ, Kowallick JT, Stiermaier T, Lange T, Navarra JL, Koschalka A, Evertz R, Lotz J, Kutty S, Hasenfuß G, Gutberlet M, Thiele H, Eitel I, Schuster A. Cardiac Magnetic Resonance Myocardial Feature Tracking for Optimized Risk Assessment After Acute Myocardial Infarction in Patients With Type 2 Diabetes. Diabetes. 2020 Jul; 69(7):1540-1548. PMID: 32335515.
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    18. Budde BS, Aly MA, Mohamed MR, Breß A, Altmüller J, Motameny S, Kawalia A, Thiele H, Konrad K, Becker C, Toliat MR, Nürnberg G, Sayed EAF, Mohamed ES, Pfister M, Nürnberg P. Comprehensive molecular analysis of 61 Egyptian families with hereditary nonsyndromic hearing loss. Clin Genet. 2020 Jul; 98(1):32-42. PMID: 32279305.
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    19. Orban M, Rommel KP, Ho EC, Unterhuber M, Pozzoli A, Connelly KA, Deseive S, Besler C, Ong G, Braun D, Edwards J, Miura M, Gülmez G, Stolz L, Gavazzoni M, Zuber M, Orban M, Nabauer M, Maisano F, Thiele H, Massberg S, Taramasso M, Fam NP, Lurz P, Hausleiter J. Transcatheter Edge-to-Edge Tricuspid Repair for Severe Tricuspid Regurgitation Reduces Hospitalizations for Heart Failure. JACC Heart Fail. 2020 04; 8(4):265-276. PMID: 32241534.
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    20. Figulla HR, Lauten A, Maier LS, Sechtem U, Silber S, Thiele H. Percutaneous Coronary Intervention in Stable Coronary Heart Disease -Is Less More? Dtsch Arztebl Int. 2020 Feb 28; 117(9):137-144. PMID: 32234189.
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    21. Lessel I, Chen MJ, Lüttgen S, Arndt F, Fuchs S, Meien S, Thiele H, Jones JR, Shaw BR, Crossman DK, Nürnberg P, Korf BR, Kubisch C, Lessel D. Two novel cases further expand the phenotype of TOR1AIP1-associated nuclear envelopathies. Hum Genet. 2020 Apr; 139(4):483-498. PMID: 32055997.
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    22. Forstner AJ, Fischer SB, Schenk LM, Strohmaier J, Maaser-Hecker A, Reinbold CS, Sivalingam S, Hecker J, Streit F, Degenhardt F, Witt SH, Schumacher J, Thiele H, Nürnberg P, Guzman-Parra J, Orozco Diaz G, Auburger G, Albus M, Borrmann-Hassenbach M, González MJ, Gil Flores S, Cabaleiro Fabeiro FJ, Del Río Noriega F, Perez Perez F, Haro González J, Rivas F, Mayoral F, Bauer M, Pfennig A, Reif A, Herms S, Hoffmann P, Pirooznia M, Goes FS, Rietschel M, Nöthen MM, Cichon S. Whole-exome sequencing of 81 individuals from 27 multiply affected bipolar disorder families. Transl Psychiatry. 2020 02 04; 10(1):57. PMID: 32066727.
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    23. Lurz P, Kresoja KP, Rommel KP, von Roeder M, Besler C, Lücke C, Gutberlet M, Schmieder RE, Mahfoud F, Thiele H, Desch S, Fengler K. Changes in Stroke Volume After Renal Denervation: Insight From Cardiac Magnetic Resonance Imaging. Hypertension. 2020 Mar; 75(3):707-713. PMID: 32008429.
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    24. Schuster A, Backhaus SJ, Stiermaier T, Navarra JL, Uhlig J, Rommel KP, Koschalka A, Kowallick JT, Bigalke B, Kutty S, Gutberlet M, Hasenfuß G, Thiele H, Eitel I. Impact of Right Atrial Physiology on Heart Failure and Adverse Events after Myocardial Infarction. J Clin Med. 2020 Jan 12; 9(1). PMID: 31940959.
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    25. Dafsari HS, Kawalia A, Sprute R, Karakaya M, Malenica A, Herkenrath P, Nürnberg P, Motameny S, Thiele H, Cirak S. Novel mutations in SLC6A5 with benign course in hyperekplexia. Cold Spring Harb Mol Case Stud. 2019 12; 5(6). PMID: 31604777.
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    26. Pergande M, Motameny S, Özdemir Ö, Kreutzer M, Wang H, Daimagüler HS, Becker K, Karakaya M, Ehrhardt H, Elcioglu N, Ostojic S, Chao CM, Kawalia A, Duman Ö, Koy A, Hahn A, Reimann J, Schoner K, Schänzer A, Westhoff JH, Schwaibold EMC, Cossee M, Imbert-Bouteille M, von Pein H, Haliloglu G, Topaloglu H, Altmüller J, Nürnberg P, Thiele H, Heller R, Cirak S. The genomic and clinical landscape of fetal akinesia. Genet Med. 2020 03; 22(3):511-523. PMID: 31680123.
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    27. Schuster A, Backhaus SJ, Stiermaier T, Kowallick JT, Stulle A, Koschalka A, Lotz J, Kutty S, Bigalke B, Gutberlet M, Hasenfuß G, Thiele H, Eitel I. Fast manual long-axis strain assessment provides optimized cardiovascular event prediction following myocardial infarction. Eur Heart J Cardiovasc Imaging. 2019 Nov 01; 20(11):1262-1270. PMID: 31329854.
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    28. Wallmeier J, Frank D, Shoemark A, Nöthe-Menchen T, Cindric S, Olbrich H, Loges NT, Aprea I, Dougherty GW, Pennekamp P, Kaiser T, Mitchison HM, Hogg C, Carr SB, Zariwala MA, Ferkol T, Leigh MW, Davis SD, Atkinson J, Dutcher SK, Knowles MR, Thiele H, Altmüller J, Krenz H, Wöste M, Brentrup A, Ahrens F, Vogelberg C, Morris-Rosendahl DJ, Omran H. De Novo Mutations in FOXJ1 Result in a Motile Ciliopathy with Hydrocephalus and Randomization of Left/Right Body Asymmetry. Am J Hum Genet. 2019 11 07; 105(5):1030-1039. PMID: 31630787.
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    29. Dafsari HS, Sprute R, Wunderlich G, Daimagüler HS, Karaca E, Contreras A, Becker K, Schulze-Rhonhof M, Kiening K, Karakulak T, Kloss M, Horn A, Pauls A, Nürnberg P, Altmüller J, Thiele H, Assmann B, Koy A, Cirak S. Correction to: Novel mutations in KMT2B offer pathophysiological insights on childhood-onset progressive dystonia. J Hum Genet. 2019 Oct; 64(10):1051-1054. PMID: 31388109.
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    30. Schuster A, Backhaus SJ, Stiermaier T, Navarra JL, Uhlig J, Rommel KP, Koschalka A, Kowallick JT, Lotz J, Gutberlet M, Bigalke B, Kutty S, Hasenfuss G, Thiele H, Eitel I. Left Atrial Function with MRI Enables Prediction of Cardiovascular Events after Myocardial Infarction: Insights from the AIDA STEMI and TATORT NSTEMI Trials. Radiology. 2019 11; 293(2):292-302. PMID: 31526253.
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    31. Karsak M, Glebov K, Scheffold M, Bajaj T, Kawalia A, Karaca I, Rading S, Kornhuber J, Peters O, Diez-Fairen M, Frölich L, Hüll M, Wiltfang J, Scherer M, Riedel-Heller S, Schneider A, Heneka MT, Fliessbach K, Sharaf A, Thiele H, Lennarz M, Jessen F, Maier W, Kubisch C, Ignatova Z, Nürnberg P, Pastor P, Walter J, Ramirez A. A rare heterozygous TREM2 coding variant identified in familial clustering of dementia affects an intrinsically disordered protein region and function of TREM2. Hum Mutat. 2020 01; 41(1):169-181. PMID: 31464095.
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    32. Kornej J, Zeynalova S, Büttner P, Burkhardt R, Bae YJ, Willenberg A, Baber R, Thaler A, Hindricks G, Loeffler M, Hagendorff A, Thiele H, Thiery J. Differentiation of atrial fibrillation progression phenotypes using Troponin T. Int J Cardiol. 2019 12 15; 297:61-65. PMID: 31521439.
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    33. Ledwoch J, Nommensen A, Keelani A, Meyer-Saraei R, Stiermaier T, Saad M, Pöss J, Desch S, Tilz R, Thiele H, Eitel I, Eitel C. Impact of transcatheter mitral valve repair on ventricular arrhythmias. Europace. 2019 Sep 01; 21(9):1385-1391. PMID: 31505617.
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    34. Backhaus SJ, Stiermaier T, Lange T, Chiribiri A, Uhlig J, Freund A, Kowallick JT, Gertz RJ, Bigalke B, Villa A, Lotz J, Hasenfuß G, Thiele H, Eitel I, Schuster A. Atrial mechanics and their prognostic impact in Takotsubo syndrome: a cardiovascular magnetic resonance imaging study. Eur Heart J Cardiovasc Imaging. 2019 Sep 01; 20(9):1059-1069. PMID: 30649241.
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    35. Jurkute N, Leu C, Pogoda HM, Arno G, Robson AG, Nürnberg G, Altmüller J, Thiele H, Motameny S, Toliat MR, Powell K, Höhne W, Michaelides M, Webster AR, Moore AT, Hammerschmidt M, Nürnberg P, Yu-Wai-Man P, Votruba M. SSBP1 mutations in dominant optic atrophy with variable retinal degeneration. Ann Neurol. 2019 09; 86(3):368-383. PMID: 31298765.
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    36. Baessler B, Luecke C, Lurz J, Klingel K, Das A, von Roeder M, de Waha-Thiele S, Besler C, Rommel KP, Maintz D, Gutberlet M, Thiele H, Lurz P. Cardiac MRI and Texture Analysis of Myocardial T1 and T2 Maps in Myocarditis with Acute versus Chronic Symptoms of Heart Failure. Radiology. 2019 09; 292(3):608-617. PMID: 31361205.
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    37. Niestroj LM, May P, Artomov M, Kobow K, Coras R, Pérez-Palma E, Altmüller J, Thiele H, Nürnberg P, Leu C, Palotie A, Daly MJ, Klein KM, Beschorner R, Weber YG, Blümcke I, Lal D. Assessment of genetic variant burden in epilepsy-associated brain lesions. Eur J Hum Genet. 2019 11; 27(11):1738-1744. PMID: 31358956.
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    38. Backhaus SJ, Kowallick JT, Stiermaier T, Lange T, Koschalka A, Navarra JL, Lotz J, Kutty S, Bigalke B, Gutberlet M, Feistritzer HJ, Hasenfuß G, Thiele H, Schuster A, Eitel I. Culprit vessel-related myocardial mechanics and prognostic implications following acute myocardial infarction. Clin Res Cardiol. 2020 Mar; 109(3):339-349. PMID: 31278521.
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    39. Pätz T, Stelzig K, Pfeifer R, Pittl U, Thiele H, Busch HJ, Reinhard I, Wolfrum S. Age-associated outcomes after survived out-of-hospital cardiac arrest and subsequent target temperature management. Acta Anaesthesiol Scand. 2019 09; 63(8):1079-1088. PMID: 31206587.
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    40. Backhaus SJ, Kowallick JT, Stiermaier T, Lange T, Koschalka A, Navarra JL, Uhlig J, Lotz J, Kutty S, Bigalke B, Gutberlet M, Hasenfuß G, Thiele H, Eitel I, Schuster A. Atrioventricular mechanical coupling and major adverse cardiac events in female patients following acute ST elevation myocardial infarction. Int J Cardiol. 2020 01 15; 299:31-36. PMID: 31300172.
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    41. Lindner A, Marbach F, Tschernitz S, Ortner C, Berneburg M, Felthaus O, Prantl L, Kye MJ, Rappl G, Altmüller J, Thiele H, Schreml S, Schreml J. Calcyphosine-like (CAPSL) is regulated in Multiple Symmetric Lipomatosis and is involved in Adipogenesis. Sci Rep. 2019 06 11; 9(1):8444. PMID: 31186450.
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    42. Dafsari HS, Sprute R, Wunderlich G, Daimagüler HS, Karaca E, Contreras A, Becker K, Schulze-Rhonhof M, Kiening K, Karakulak T, Kloss M, Horn A, Pauls A, Nürnberg P, Altmüller J, Thiele H, Assmann B, Koy A, Cirak S. Novel mutations in KMT2B offer pathophysiological insights into childhood-onset progressive dystonia. J Hum Genet. 2019 Aug; 64(8):803-813. PMID: 31165786.
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    43. Huppke P, Wegener E, Gilley J, Angeletti C, Kurth I, Drenth JPH, Stadelmann C, Barrantes-Freer A, Brück W, Thiele H, Nürnberg P, Gärtner J, Orsomando G, Coleman MP. Homozygous NMNAT2 mutation in sisters with polyneuropathy and erythromelalgia. Exp Neurol. 2019 10; 320:112958. PMID: 31132363.
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    44. Karakaya M, Paketci C, Altmueller J, Thiele H, Hoelker I, Yis U, Wirth B. Biallelic variant in AGTPBP1 causes infantile lower motor neuron degeneration and cerebellar atrophy. . 2019 08; 179(8):1580-1584. PMID: 31102495.
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    45. Stiermaier T, Jensen JO, Rommel KP, de Waha-Thiele S, Fuernau G, Desch S, Thiele H, Eitel I. Combined Intrahospital Remote Ischemic Perconditioning and Postconditioning Improves Clinical Outcome in ST-Elevation Myocardial Infarction. Circ Res. 2019 05 10; 124(10):1482-1491. PMID: 30929570.
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    46. Kolvenbach CM, Dworschak GC, Frese S, Japp AS, Schuster P, Wenzlitschke N, Yilmaz Ö, Lopes FM, Pryalukhin A, Schierbaum L, van der Zanden LFM, Kause F, Schneider R, Taranta-Janusz K, Szczepanska M, Pawlaczyk K, Newman WG, Beaman GM, Stuart HM, Cervellione RM, Feitz WFJ, van Rooij IALM, Schreuder MF, Steffens M, Weber S, Merz WM, Feldkötter M, Hoppe B, Thiele H, Altmüller J, Berg C, Kristiansen G, Ludwig M, Reutter H, Woolf AS, Hildebrandt F, Grote P, Zaniew M, Odermatt B, Hilger AC. Rare Variants in BNC2 Are Implicated in Autosomal-Dominant Congenital Lower Urinary-Tract Obstruction. Am J Hum Genet. 2019 05 02; 104(5):994-1006. PMID: 31051115.
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    47. Weber-Lassalle N, Borde J, Weber-Lassalle K, Horváth J, Niederacher D, Arnold N, Kaulfuß S, Ernst C, Paul VG, Honisch E, Klaschik K, Volk AE, Kubisch C, Rapp S, Lichey N, Altmüller J, Lepkes L, Pohl-Rescigno E, Thiele H, Nürnberg P, Larsen M, Richters L, Rhiem K, Wappenschmidt B, Engel C, Meindl A, Schmutzler RK, Hahnen E, Hauke J. Germline loss-of-function variants in the BARD1 gene are associated with early-onset familial breast cancer but not ovarian cancer. Breast Cancer Res. 2019 04 29; 21(1):55. PMID: 31036035.
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    48. Ullah I, Kakar N, Schrauwen I, Hussain S, Chakchouk I, Liaqat K, Acharya A, Wasif N, Santos-Cortez RLP, Khan S, Aziz A, Lee K, Couthouis J, Horn D, Kragesteen BK, Spielmann M, Thiele H, Nickerson DA, Bamshad MJ, Gitler AD, Ahmad J, Ansar M, Borck G, Ahmad W, Leal SM. Variants in KIAA0825 underlie autosomal recessive postaxial polydactyly. Hum Genet. 2019 Jun; 138(6):593-600. PMID: 30982135.
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    49. Hauke J, Hahnen E, Schneider S, Reuss A, Richters L, Kommoss S, Heimbach A, Marmé F, Schmidt S, Prieske K, Gevensleben H, Burges A, Borde J, De Gregorio N, Nürnberg P, El-Balat A, Thiele H, Hilpert F, Altmüller J, Meier W, Dietrich D, Kimmig R, Schoemig-Markiefka B, Kast K, Braicu E, Baumann K, Jackisch C, Park-Simon TW, Ernst C, Hanker L, Pfisterer J, Schnelzer A, du Bois A, Schmutzler RK, Harter P. Deleterious somatic variants in 473 consecutive individuals with ovarian cancer: results of the observational AGO-TR1 study (NCT02222883). J Med Genet. 2019 09; 56(9):574-580. PMID: 30979843.
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    50. Kause F, Zhang R, Ludwig M, Schmiedeke E, Rissmann A, Thiele H, Altmueller J, Herms S, Hilger AC, Hildebrandt F, Reutter H. HSPA6: A new autosomal recessive candidate gene for the VATER/VACTERL malformation spectrum. Birth Defects Res. 2019 06 01; 111(10):591-597. PMID: 30887706.
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    51. Lopes RD, Heizer G, Aronson R, Vora AN, Massaro T, Mehran R, Goodman SG, Windecker S, Darius H, Li J, Averkov O, Bahit MC, Berwanger O, Budaj A, Hijazi Z, Parkhomenko A, Sinnaeve P, Storey RF, Thiele H, Vinereanu D, Granger CB, Alexander JH. Antithrombotic Therapy after Acute Coronary Syndrome or PCI in Atrial Fibrillation. N Engl J Med. 2019 04 18; 380(16):1509-1524. PMID: 30883055.
      Citations:    
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    78. Thiele H, Desch S. CULPRIT-SHOCK (Culprit Lesion Only PCI Versus Multivessel Percutaneous Coronary Intervention in Cardiogenic Shock): Implications on Guideline Recommendations. Circulation. 2018 03 27; 137(13):1314-1316. PMID: 29581361.
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    108. Lessel D, Wu D, Trujillo C, Ramezani T, Lessel I, Alwasiyah MK, Saha B, Hisama FM, Rading K, Goebel I, Schütz P, Speit G, Högel J, Thiele H, Nürnberg G, Nürnberg P, Hammerschmidt M, Zhu Y, Tong DR, Katz C, Martin GM, Oshima J, Prives C, Kubisch C. Dysfunction of the MDM2/p53 axis is linked to premature aging. J Clin Invest. 2017 Oct 02; 127(10):3598-3608. PMID: 28846075.
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    110. Borchert T, Hübscher D, Guessoum CI, Lam TD, Ghadri JR, Schellinger IN, Tiburcy M, Liaw NY, Li Y, Haas J, Sossalla S, Huber MA, Cyganek L, Jacobshagen C, Dressel R, Raaz U, Nikolaev VO, Guan K, Thiele H, Meder B, Wollnik B, Zimmermann WH, Lüscher TF, Hasenfuss G, Templin C, Streckfuss-Bömeke K. Catecholamine-Dependent ß-Adrenergic Signaling in a Pluripotent Stem Cell Model of Takotsubo Cardiomyopathy. J Am Coll Cardiol. 2017 Aug 22; 70(8):975-991. PMID: 28818208.
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    111. Weissbach S, Reinert MC, Altmüller J, Krätzner R, Thiele H, Rosenbaum T, Nürnberg P, Gärtner J. A new CUL4B variant associated with a mild phenotype and an exceptional pattern of leukoencephalopathy. . 2017 Oct; 173(10):2803-2807. PMID: 28817236.
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    113. Jobs A, Mehta SR, Montalescot G, Vicaut E, Van't Hof AWJ, Badings EA, Neumann FJ, Kastrati A, Sciahbasi A, Reuter PG, Lapostolle F, Milosevic A, Stankovic G, Milasinovic D, Vonthein R, Desch S, Thiele H. Optimal timing of an invasive strategy in patients with non-ST-elevation acute coronary syndrome: a meta-analysis of randomised trials. Lancet. 2017 Aug 19; 390(10096):737-746. PMID: 28778541.
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    114. Reinstadler SJ, Stiermaier T, Eitel C, Metzler B, de Waha S, Fuernau G, Desch S, Thiele H, Eitel I. Relationship between diabetes and ischaemic injury among patients with revascularized ST-elevation myocardial infarction. Diabetes Obes Metab. 2017 12; 19(12):1706-1713. PMID: 28474817.
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    115. Stiermaier T, Thiele H, Eitel I. Early myocardial edema after acute myocardial infarction is stable and not bimodal in humans - Evidence from a large CMR multicenter study. Int J Cardiol. 2017 Nov 01; 246:87-89. PMID: 28733072.
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    116. de Waha S, Jobs A, Eitel I, Pöss J, Stiermaier T, Meyer-Saraei R, Fuernau G, Zeymer U, Desch S, Thiele H. Multivessel versus culprit lesion only percutaneous coronary intervention in cardiogenic shock complicating acute myocardial infarction: A systematic review and meta-analysis. Eur Heart J Acute Cardiovasc Care. 2018 Feb; 7(1):28-37. PMID: 28703046.
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    119. Minnerop M, Kurzwelly D, Wagner H, Soehn AS, Reichbauer J, Tao F, Rattay TW, Peitz M, Rehbach K, Giorgetti A, Pyle A, Thiele H, Altmüller J, Timmann D, Karaca I, Lennarz M, Baets J, Hengel H, Synofzik M, Atasu B, Feely S, Kennerson M, Stendel C, Lindig T, Gonzalez MA, Stirnberg R, Sturm M, Roeske S, Jung J, Bauer P, Lohmann E, Herms S, Heilmann-Heimbach S, Nicholson G, Mahanjah M, Sharkia R, Carloni P, Brüstle O, Klopstock T, Mathews KD, Shy ME, de Jonghe P, Chinnery PF, Horvath R, Kohlhase J, Schmitt I, Wolf M, Greschus S, Amunts K, Maier W, Schöls L, Nürnberg P, Zuchner S, Klockgether T, Ramirez A, Schüle R. Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia. Brain. 2017 06 01; 140(6):1561-1578. PMID: 28459997.
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    120. Usluer S, Kayserili MA, Eken AG, Yis U, Leu C, Altmüller J, Thiele H, Nürnberg P, Sander T, Çaglayan SH. Association of a synonymous SCN1B variant affecting splicing efficiency with Benign Familial Infantile Epilepsy (BFIE). Eur J Paediatr Neurol. 2017 Sep; 21(5):773-782. PMID: 28566192.
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    121. Pöss J, Köster J, Fuernau G, Eitel I, de Waha S, Ouarrak T, Lassus J, Harjola VP, Zeymer U, Thiele H, Desch S. Risk Stratification for Patients in Cardiogenic Shock After Acute Myocardial Infarction. J Am Coll Cardiol. 2017 Apr 18; 69(15):1913-1920. PMID: 28408020.
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    122. Moosa S, Haagerup A, Gregersen PA, Petersen KK, Altmüller J, Thiele H, Nürnberg P, Cho TJ, Kim OH, Nishimura G, Wollnik B, Vogel I. Confirmation of CAGSSS syndrome as a distinct entity in a Danish patient with a novel homozygous mutation in IARS2. . 2017 Apr; 173(4):1102-1108. PMID: 28328135.
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    123. Jobs A, Simon R, de Waha S, Rogacev K, Katalinic A, Babaev V, Thiele H. Pneumonia and inflammation in acute decompensated heart failure: a registry-based analysis of 1939 patients. Eur Heart J Acute Cardiovasc Care. 2018 Jun; 7(4):362-370. PMID: 28357890.
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    124. Ralser DJ, Basmanav FB, Tafazzoli A, Wititsuwannakul J, Delker S, Danda S, Thiele H, Wolf S, Busch M, Pulimood SA, Altmüller J, Nürnberg P, Lacombe D, Hillen U, Wenzel J, Frank J, Odermatt B, Betz RC. Mutations in ?-secretase subunit-encoding PSENEN underlie Dowling-Degos disease associated with acne inversa. J Clin Invest. 2017 Apr 03; 127(4):1485-1490. PMID: 28287404.
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    125. Besler C, Lang D, Urban D, Rommel KP, von Roeder M, Fengler K, Blazek S, Kandolf R, Klingel K, Thiele H, Linke A, Schuler G, Adams V, Lurz P. Plasma and Cardiac Galectin-3 in Patients With Heart Failure Reflects Both Inflammation and Fibrosis: Implications for Its Use as a Biomarker. Circ Heart Fail. 2017 Mar; 10(3). PMID: 28288987.
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    126. Neidhardt G, Becker A, Hauke J, Horváth J, Bogdanova Markov N, Heilmann-Heimbach S, Hellebrand H, Thiele H, Altmüller J, Nürnberg P, Meindl A, Rhiem K, Blümcke B, Wappenschmidt B, Schmutzler RK, Hahnen E. The RAD51C exonic splice-site mutations c.404G>C and c.404G>T are associated with familial breast and ovarian cancer. Eur J Cancer Prev. 2017 03; 26(2):165-169. PMID: 27622768.
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    127. Selker HP, Udelson JE, Ruthazer R, D'Agostino RB, Nichols M, Ben-Yehuda O, Eitel I, Granger CB, Jenkins P, Maehara A, Patel MR, Ohman EM, Thiele H, Stone GW. Relationship between therapeutic effects on infarct size in acute myocardial infarction and therapeutic effects on 1-year outcomes: A patient-level analysis of randomized clinical trials. Am Heart J. 2017 Jun; 188:18-25. PMID: 28577674.
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    128. Kudin AP, Baron G, Zsurka G, Hampel KG, Elger CE, Grote A, Weber Y, Lerche H, Thiele H, Nürnberg P, Schulz H, Ruppert AK, Sander T, Cheng Q, Arnér ES, Schomburg L, Seeher S, Fradejas-Villar N, Schweizer U, Kunz WS. Homozygous mutation in TXNRD1 is associated with genetic generalized epilepsy. Free Radic Biol Med. 2017 05; 106:270-277. PMID: 28232204.
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    131. Gordon CT, Xue S, Yigit G, Filali H, Chen K, Rosin N, Yoshiura KI, Oufadem M, Beck TJ, McGowan R, Magee AC, Altmüller J, Dion C, Thiele H, Gurzau AD, Nürnberg P, Meschede D, Mühlbauer W, Okamoto N, Varghese V, Irving R, Sigaudy S, Williams D, Ahmed SF, Bonnard C, Kong MK, Ratbi I, Fejjal N, Fikri M, Elalaoui SC, Reigstad H, Bole-Feysot C, Nitschké P, Ragge N, Lévy N, Tunçbilek G, Teo AS, Cunningham ML, Sefiani A, Kayserili H, Murphy JM, Chatdokmaiprai C, Hillmer AM, Wattanasirichaigoon D, Lyonnet S, Magdinier F, Javed A, Blewitt ME, Amiel J, Wollnik B, Reversade B. De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development. Nat Genet. 2017 Feb; 49(2):249-255. PMID: 28067911.
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    132. Bogs T, Zwink N, Chonitzki V, Hölscher A, Boemers TM, Münsterer O, Kurz R, Heydweiller A, Pauly M, Leutner A, Ure BM, Lacher M, Deffaa OJ, Thiele H, Bagci S, Jenetzky E, Schumacher J, Reutter H. Esophageal Atresia with or without Tracheoesophageal Fistula (EA/TEF): Association of Different EA/TEF Subtypes with Specific Co-occurring Congenital Anomalies and Implications for Diagnostic Workup. Eur J Pediatr Surg. 2018 Apr; 28(2):176-182. PMID: 28061520.
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    133. Sukumaran SK, Stumpf M, Salamon S, Ahmad I, Bhattacharya K, Fischer S, Müller R, Altmüller J, Budde B, Thiele H, Tariq M, Malik NA, Nürnberg P, Baig SM, Hussain MS, Noegel AA. CDK5RAP2 interaction with components of the Hippo signaling pathway may play a role in primary microcephaly. Mol Genet Genomics. 2017 Apr; 292(2):365-383. PMID: 28004182.
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    135. Ü Basmanav FB, Cau L, Tafazzoli A, Méchin MC, Wolf S, Romano MT, Valentin F, Wiegmann H, Huchenq A, Kandil R, Garcia Bartels N, Kilic A, George S, Ralser DJ, Bergner S, Ferguson DJP, Oprisoreanu AM, Wehner M, Thiele H, Altmüller J, Nürnberg P, Swan D, Houniet D, Büchner A, Weibel L, Wagner N, Grimalt R, Bygum A, Serre G, Blume-Peytavi U, Sprecher E, Schoch S, Oji V, Hamm H, Farrant P, Simon M, Betz RC. Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome. Am J Hum Genet. 2016 Dec 01; 99(6):1292-1304. PMID: 27866708.
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    137. Reiff C, Owczarek-Lipska M, Spital G, Röger C, Hinz H, Jüschke C, Thiele H, Altmüller J, Nürnberg P, Da Costa R, Neidhardt J. The mutation p.E113K in the Schiff base counterion of rhodopsin is associated with two distinct retinal phenotypes within the same family. Sci Rep. 2016 11 04; 6:36208. PMID: 27812022.
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    138. Meyer-Saraei R, de Waha S, Eitel I, Desch S, Scheller B, Böhm M, Lauer B, Gawaz M, Geisler T, Gunkel O, Bruch L, Klein N, Pfeiffer D, Schuler G, Zeymer U, Thiele H. Thrombus aspiration in non-ST-elevation myocardial infarction - 12-month clinical outcome of the randomised TATORT-NSTEMI trial. Eur Heart J Acute Cardiovasc Care. 2017 Feb; 6(1):10-17. PMID: 26582910.
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    142. Adam R, Spier I, Zhao B, Kloth M, Marquez J, Hinrichsen I, Kirfel J, Tafazzoli A, Horpaopan S, Uhlhaas S, Stienen D, Friedrichs N, Altmüller J, Laner A, Holzapfel S, Peters S, Kayser K, Thiele H, Holinski-Feder E, Marra G, Kristiansen G, Nöthen MM, Büttner R, Möslein G, Betz RC, Brieger A, Lifton RP, Aretz S. Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis. Am J Hum Genet. 2016 Aug 04; 99(2):337-51. PMID: 27476653.
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    143. Tiwari A, Lemke J, Altmueller J, Thiele H, Glaus E, Fleischhauer J, Nürnberg P, Neidhardt J, Berger W. Identification of Novel and Recurrent Disease-Causing Mutations in Retinal Dystrophies Using Whole Exome Sequencing (WES): Benefits and Limitations. PLoS One. 2016; 11(7):e0158692. PMID: 27391102.
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    150. Lal D, Reinthaler EM, Dejanovic B, May P, Thiele H, Lehesjoki AE, Schwarz G, Riesch E, Ikram MA, van Duijn CM, Uitterlinden AG, Hofman A, Steinböck H, Gruber-Sedlmayr U, Neophytou B, Zara F, Hahn A, Gormley P, Becker F, Weber YG, Cilio MR, Kunz WS, Krause R, Zimprich F, Lemke JR, Nürnberg P, Sander T, Lerche H, Neubauer BA. Evaluation of Presumably Disease Causing SCN1A Variants in a Cohort of Common Epilepsy Syndromes. PLoS One. 2016; 11(3):e0150426. PMID: 26990884.
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    155. Di Donato N, Neuhann T, Kahlert AK, Klink B, Hackmann K, Neuhann I, Novotna B, Schallner J, Krause C, Glass IA, Parnell SE, Benet-Pages A, Nissen AM, Berger W, Altmüller J, Thiele H, Weber BH, Schrock E, Dobyns WB, Bier A, Rump A. Mutations in EXOSC2 are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestalt. J Med Genet. 2016 06; 53(6):419-25. PMID: 26843489.
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    156. Reutter H, Keppler-Noreuil K, E Keegan C, Thiele H, Yamada G, Ludwig M. Genetics of Bladder-Exstrophy-Epispadias Complex (BEEC): Systematic Elucidation of Mendelian and Multifactorial Phenotypes. Curr Genomics. 2016 Feb; 17(1):4-13. PMID: 27013921.
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    157. Reinstadler SJ, Stiermaier T, Fuernau G, de Waha S, Desch S, Metzler B, Thiele H, Eitel I. The challenges and impact of microvascular injury in ST-elevation myocardial infarction. Expert Rev Cardiovasc Ther. 2016; 14(4):431-43. PMID: 26794717.
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    158. Moosa S, Obregon MG, Altmüller J, Thiele H, Nürnberg P, Fano V, Wollnik B. Novel IFT122 mutations in three Argentinian patients with cranioectodermal dysplasia: Expanding the mutational spectrum. . 2016 May; 170A(5):1295-301. PMID: 26792575.
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    159. Korenke GC, Eggert M, Thiele H, Nürnberg P, Sander T, Steinlein OK. Nocturnal frontal lobe epilepsy caused by a mutation in the GATOR1 complex gene NPRL3. Epilepsia. 2016 Mar; 57(3):e60-3. PMID: 26786403.
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    160. Lal D, Neubauer BA, Toliat MR, Altmüller J, Thiele H, Nürnberg P, Kamrath C, Schänzer A, Sander T, Hahn A, Nothnagel M. Increased Probability of Co-Occurrence of Two Rare Diseases in Consanguineous Families and Resolution of a Complex Phenotype by Next Generation Sequencing. PLoS One. 2016; 11(1):e0146040. PMID: 26789268.
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    161. Spielmann M, Kakar N, Tayebi N, Leettola C, Nürnberg G, Sowada N, Lupiáñez DG, Harabula I, Flöttmann R, Horn D, Chan WL, Wittler L, Yilmaz R, Altmüller J, Thiele H, van Bokhoven H, Schwartz CE, Nürnberg P, Bowie JU, Ahmad J, Kubisch C, Mundlos S, Borck G. Exome sequencing and CRISPR/Cas genome editing identify mutations of ZAK as a cause of limb defects in humans and mice. Genome Res. 2016 Feb; 26(2):183-91. PMID: 26755636.
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    162. Ammann S, Schulz A, Krägeloh-Mann I, Dieckmann NM, Niethammer K, Fuchs S, Eckl KM, Plank R, Werner R, Altmüller J, Thiele H, Nürnberg P, Bank J, Strauss A, von Bernuth H, Zur Stadt U, Grieve S, Griffiths GM, Lehmberg K, Hennies HC, Ehl S. Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome. Blood. 2016 Feb 25; 127(8):997-1006. PMID: 26744459.
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    163. Bartram MP, Habbig S, Pahmeyer C, Höhne M, Weber LT, Thiele H, Altmüller J, Kottoor N, Wenzel A, Krueger M, Schermer B, Benzing T, Rinschen MM, Beck BB. Three-layered proteomic characterization of a novel ACTN4 mutation unravels its pathogenic potential in FSGS. Hum Mol Genet. 2016 Mar 15; 25(6):1152-64. PMID: 26740551.
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    164. Zhang R, Thiele H, Bartmann P, Hilger AC, Berg C, Herberg U, Klingmüller D, Nürnberg P, Ludwig M, Reutter H. Whole-Exome Sequencing in Nine Monozygotic Discordant Twins. Twin Res Hum Genet. 2016 Feb; 19(1):60-5. PMID: 26681452.
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    165. de Waha S, Seeburger J, Ender J, Desch S, Eitel I, Reinhardt A, Pöss J, Fuernau G, Noack T, Merk DR, Schuler G, Sievers HH, Mohr FW, Thiele H. Deep sedation versus general anesthesia in percutaneous edge-to-edge mitral valve reconstruction using the MitraClip system. Clin Res Cardiol. 2016 Jun; 105(6):535-43. PMID: 26683202.
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    166. Hallmann K, Kudin AP, Zsurka G, Kornblum C, Reimann J, Stüve B, Waltz S, Hattingen E, Thiele H, Nürnberg P, Rüb C, Voos W, Kopatz J, Neumann H, Kunz WS. Loss of the smallest subunit of cytochrome c oxidase, COX8A, causes Leigh-like syndrome and epilepsy. Brain. 2016 Feb; 139(Pt 2):338-45. PMID: 26685157.
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    167. Zaki MS, Heller R, Thoenes M, Nürnberg G, Stern-Schneider G, Nürnberg P, Karnati S, Swan D, Fateen E, Nagel-Wolfrum K, Mostafa MI, Thiele H, Wolfrum U, Baumgart-Vogt E, Bolz HJ. PEX6 is Expressed in Photoreceptor Cilia and Mutated in Deafblindness with Enamel Dysplasia and Microcephaly. Hum Mutat. 2016 Feb; 37(2):170-4. PMID: 26593283.
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    168. Yigit G, Wieczorek D, Bögershausen N, Beleggia F, Möller-Hartmann C, Altmüller J, Thiele H, Nürnberg P, Wollnik B. A syndrome of microcephaly, short stature, polysyndactyly, and dental anomalies caused by a homozygous KATNB1 mutation. . 2016 Mar; 170(3):728-33. PMID: 26640080.
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    169. Abdin A, Eitel I, de Waha S, Thiele H. Apical hypertrophic cardiomyopathy presenting as acute coronary syndrome. Eur Heart J Acute Cardiovasc Care. 2016 Jun; 5(3):289-91. PMID: 26628684.
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    170. Szczepanski S, Hussain MS, Sur I, Altmüller J, Thiele H, Abdullah U, Waseem SS, Moawia A, Nürnberg G, Noegel AA, Baig SM, Nürnberg P. A novel homozygous splicing mutation of CASC5 causes primary microcephaly in a large Pakistani family. Hum Genet. 2016 Feb; 135(2):157-70. PMID: 26621532.
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    171. Harley ME, Murina O, Leitch A, Higgs MR, Bicknell LS, Yigit G, Blackford AN, Zlatanou A, Mackenzie KJ, Reddy K, Halachev M, McGlasson S, Reijns MAM, Fluteau A, Martin CA, Sabbioneda S, Elcioglu NH, Altmüller J, Thiele H, Greenhalgh L, Chessa L, Maghnie M, Salim M, Bober MB, Nürnberg P, Jackson SP, Hurles ME, Wollnik B, Stewart GS, Jackson AP. TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism. Nat Genet. 2016 Jan; 48(1):36-43. PMID: 26595769.
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    172. Reinstadler SJ, Thiele H, Eitel I. Risk stratification by cardiac magnetic resonance imaging after ST-elevation myocardial infarction. Curr Opin Cardiol. 2015 Nov; 30(6):681-9. PMID: 26398412.
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    173. Pöss J, Desch S, Eitel C, de Waha S, Thiele H, Eitel I. Left Ventricular Thrombus Formation After ST-Segment-Elevation Myocardial Infarction: Insights From a Cardiac Magnetic Resonance Multicenter Study. Circ Cardiovasc Imaging. 2015 Oct; 8(10):e003417. PMID: 26481162.
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    174. Stephen LA, Tawamie H, Davis GM, Tebbe L, Nürnberg P, Nürnberg G, Thiele H, Thoenes M, Boltshauser E, Uebe S, Rompel O, Reis A, Ekici AB, McTeir L, Fraser AM, Hall EA, Mill P, Daudet N, Cross C, Wolfrum U, Jamra RA, Davey MG, Bolz HJ. TALPID3 controls centrosome and cell polarity and the human ortholog KIAA0586 is mutated in Joubert syndrome (JBTS23). Elife. 2015 Sep 19; 4. PMID: 26386247.
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    175. Reinstadler SJ, Baum A, Rommel KP, Eitel C, Desch S, Mende M, Metzler B, Poess J, Thiele H, Eitel I. ST-segment depression resolution predicts infarct size and reperfusion injury in ST-elevation myocardial infarction. Heart. 2015 Nov; 101(22):1819-25. PMID: 26385452.
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    176. Olbrich H, Cremers C, Loges NT, Werner C, Nielsen KG, Marthin JK, Philipsen M, Wallmeier J, Pennekamp P, Menchen T, Edelbusch C, Dougherty GW, Schwartz O, Thiele H, Altmüller J, Rommelmann F, Omran H. Loss-of-Function GAS8 Mutations Cause Primary Ciliary Dyskinesia and Disrupt the Nexin-Dynein Regulatory Complex. Am J Hum Genet. 2015 Oct 01; 97(4):546-54. PMID: 26387594.
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    177. Hardies K, de Kovel CG, Weckhuysen S, Asselbergh B, Geuens T, Deconinck T, Azmi A, May P, Brilstra E, Becker F, Barisic N, Craiu D, Braun KP, Lal D, Thiele H, Schubert J, Weber Y, van 't Slot R, Nürnberg P, Balling R, Timmerman V, Lerche H, Maudsley S, Helbig I, Suls A, Koeleman BP, De Jonghe P. Recessive mutations in SLC13A5 result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia. Brain. 2015 Nov; 138(Pt 11):3238-50. PMID: 26384929.
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    178. Templin C, Ghadri JR, Diekmann J, Napp LC, Bataiosu DR, Jaguszewski M, Cammann VL, Sarcon A, Geyer V, Neumann CA, Seifert B, Hellermann J, Schwyzer M, Eisenhardt K, Jenewein J, Franke J, Katus HA, Burgdorf C, Schunkert H, Moeller C, Thiele H, Bauersachs J, Tschöpe C, Schultheiss HP, Laney CA, Rajan L, Michels G, Pfister R, Ukena C, Böhm M, Erbel R, Cuneo A, Kuck KH, Jacobshagen C, Hasenfuss G, Karakas M, Koenig W, Rottbauer W, Said SM, Braun-Dullaeus RC, Cuculi F, Banning A, Fischer TA, Vasankari T, Airaksinen KE, Fijalkowski M, Rynkiewicz A, Pawlak M, Opolski G, Dworakowski R, MacCarthy P, Kaiser C, Osswald S, Galiuto L, Crea F, Dichtl W, Franz WM, Empen K, Felix SB, Delmas C, Lairez O, Erne P, Bax JJ, Ford I, Ruschitzka F, Prasad A, Lüscher TF. Clinical Features and Outcomes of Takotsubo (Stress) Cardiomyopathy. N Engl J Med. 2015 Sep 03; 373(10):929-38. PMID: 26332547.
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    179. Hübers A, Just W, Rosenbohm A, Müller K, Marroquin N, Goebel I, Högel J, Thiele H, Altmüller J, Nürnberg P, Weishaupt JH, Kubisch C, Ludolph AC, Volk AE. De novo FUS mutations are the most frequent genetic cause in early-onset German ALS patients. Neurobiol Aging. 2015 Nov; 36(11):3117.e1-3117.e6. PMID: 26362943.
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    180. Jobs A, Eitel C, Pöss J, Desch S, Thiele H, Eitel I. Effect of Pericardial Effusion Complicating ST-Elevation Myocardial Infarction as Predictor of Extensive Myocardial Damage and Prognosis. Am J Cardiol. 2015 Oct 01; 116(7):1010-6. PMID: 26235929.
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    181. Gollasch B, Basmanav FB, Nanda A, Fritz G, Mahmoudi H, Thiele H, Wehner M, Wolf S, Altmüller J, Nürnberg P, Frank J, Betz RC. Identification of a novel mutation in RIPK4 in a kindred with phenotypic features of Bartsocas-Papas and CHAND syndromes. . 2015 Nov; 167A(11):2555-62. PMID: 26129644.
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    182. Lal D, Steinbrücker S, Schubert J, Sander T, Becker F, Weber Y, Lerche H, Thiele H, Krause R, Lehesjoki AE, Nürnberg P, Palotie A, Neubauer BA, Muhle H, Stephani U, Helbig I, Becker AJ, Schoch S, Hansen J, Dorn T, Hohl C, Lüscher N, von Spiczak S, Lemke JR. Investigation of GRIN2A in common epilepsy phenotypes. Epilepsy Res. 2015 Sep; 115:95-9. PMID: 26220384.
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    183. Kawalia A, Motameny S, Wonczak S, Thiele H, Nieroda L, Jabbari K, Borowski S, Sinha V, Gunia W, Lang U, Achter V, Nürnberg P. Leveraging the power of high performance computing for next generation sequencing data analysis: tricks and twists from a high throughput exome workflow. PLoS One. 2015; 10(5):e0126321. PMID: 25942438.
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    184. Budde BS, Mizumoto S, Kogawa R, Becker C, Altmüller J, Thiele H, Rüschendorf F, Toliat MR, Kaleschke G, Hämmerle JM, Höhne W, Sugahara K, Nürnberg P, Kennerknecht I. Skeletal dysplasia in a consanguineous clan from the island of Nias/Indonesia is caused by a novel mutation in B3GAT3. Hum Genet. 2015 Jul; 134(7):691-704. PMID: 25893793.
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    185. Rosin N, Elcioglu NH, Beleggia F, Isgüven P, Altmüller J, Thiele H, Steindl K, Joset P, Rauch A, Nürnberg P, Wollnik B, Yigit G. Mutations in XRCC4 cause primary microcephaly, short stature and increased genomic instability. Hum Mol Genet. 2015 Jul 01; 24(13):3708-17. PMID: 25839420.
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    186. Desch S, Okon T, Heinemann D, Kulle K, Röhnert K, Sonnabend M, Petzold M, Müller U, Schuler G, Eitel I, Thiele H, Lurz P. Randomized sham-controlled trial of renal sympathetic denervation in mild resistant hypertension. Hypertension. 2015 Jun; 65(6):1202-8. PMID: 25824248.
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    187. Reinthaler EM, Dejanovic B, Lal D, Semtner M, Merkler Y, Reinhold A, Pittrich DA, Hotzy C, Feucht M, Steinböck H, Gruber-Sedlmayr U, Ronen GM, Neophytou B, Geldner J, Haberlandt E, Muhle H, Ikram MA, van Duijn CM, Uitterlinden AG, Hofman A, Altmüller J, Kawalia A, Toliat MR, Nürnberg P, Lerche H, Nothnagel M, Thiele H, Sander T, Meier JC, Schwarz G, Neubauer BA, Zimprich F. Rare variants in ?-aminobutyric acid type A receptor genes in rolandic epilepsy and related syndromes. Ann Neurol. 2015 Jun; 77(6):972-86. PMID: 25726841.
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    188. Galizia EC, Myers CT, Leu C, de Kovel CG, Afrikanova T, Cordero-Maldonado ML, Martins TG, Jacmin M, Drury S, Krishna Chinthapalli V, Muhle H, Pendziwiat M, Sander T, Ruppert AK, Møller RS, Thiele H, Krause R, Schubert J, Lehesjoki AE, Nürnberg P, Lerche H, Palotie A, Coppola A, Striano S, Gaudio LD, Boustred C, Schneider AL, Lench N, Jocic-Jakubi B, Covanis A, Capovilla G, Veggiotti P, Piccioli M, Parisi P, Cantonetti L, Sadleir LG, Mullen SA, Berkovic SF, Stephani U, Helbig I, Crawford AD, Esguerra CV, Kasteleijn-Nolst Trenité DG, Koeleman BP, Mefford HC, Scheffer IE, Sisodiya SM. CHD2 variants are a risk factor for photosensitivity in epilepsy. Brain. 2015 May; 138(Pt 5):1198-207. PMID: 25783594.
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    189. Eitel I, Thiele H. Reply: Is the electrocardiogram different in recurrent episodes of Takotsubo syndrome involving 2 different left ventricular territories in the same patient? Int J Cardiol. 2015 Apr 15; 185:218. PMID: 25814209.
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    190. Thoenes M, Zimmermann U, Ebermann I, Ptok M, Lewis MA, Thiele H, Morlot S, Hess MM, Gal A, Eisenberger T, Bergmann C, Nürnberg G, Nürnberg P, Steel KP, Knipper M, Bolz HJ. OSBPL2 encodes a protein of inner and outer hair cell stereocilia and is mutated in autosomal dominant hearing loss (DFNA67). Orphanet J Rare Dis. 2015 Feb 10; 10:15. PMID: 25759012.
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    191. Schuster A, Faulkner M, Zeymer U, Ouarrak T, Eitel I, Desch S, Hasenfuß G, Thiele H. Economic implications of intra-aortic balloon support for myocardial infarction with cardiogenic shock: an analysis from the IABP-SHOCK II-trial. Clin Res Cardiol. 2015 Jul; 104(7):566-73. PMID: 25637294.
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    192. Elsayed SM, Phillips JB, Heller R, Thoenes M, Elsobky E, Nürnberg G, Nürnberg P, Seland S, Ebermann I, Altmüller J, Thiele H, Toliat M, Körber F, Hu XJ, Wu YD, Zaki MS, Abdel-Salam G, Gleeson J, Boltshauser E, Westerfield M, Bolz HJ. Non-manifesting AHI1 truncations indicate localized loss-of-function tolerance in a severe Mendelian disease gene. Hum Mol Genet. 2015 May 01; 24(9):2594-603. PMID: 25616960.
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    193. Rutsch F, MacDougall M, Lu C, Buers I, Mamaeva O, Nitschke Y, Rice GI, Erlandsen H, Kehl HG, Thiele H, Nürnberg P, Höhne W, Crow YJ, Feigenbaum A, Hennekam RC. A specific IFIH1 gain-of-function mutation causes Singleton-Merten syndrome. Am J Hum Genet. 2015 Feb 05; 96(2):275-82. PMID: 25620204.
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    194. Spier I, Holzapfel S, Altmüller J, Zhao B, Horpaopan S, Vogt S, Chen S, Morak M, Raeder S, Kayser K, Stienen D, Adam R, Nürnberg P, Plotz G, Holinski-Feder E, Lifton RP, Thiele H, Hoffmann P, Steinke V, Aretz S. Frequency and phenotypic spectrum of germline mutations in POLE and seven other polymerase genes in 266 patients with colorectal adenomas and carcinomas. Int J Cancer. 2015 Jul 15; 137(2):320-31. PMID: 25529843.
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    195. Borck G, Hög F, Dentici ML, Tan PL, Sowada N, Medeira A, Gueneau L, Thiele H, Kousi M, Lepri F, Wenzeck L, Blumenthal I, Radicioni A, Schwarzenberg TL, Mandriani B, Fischetto R, Morris-Rosendahl DJ, Altmüller J, Reymond A, Nürnberg P, Merla G, Dallapiccola B, Katsanis N, Cramer P, Kubisch C. BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies. Genome Res. 2015 Feb; 25(2):155-66. PMID: 25561519.
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    196. Ehmke N, Caliebe A, Koenig R, Kant SG, Stark Z, Cormier-Daire V, Wieczorek D, Gillessen-Kaesbach G, Hoff K, Kawalia A, Thiele H, Altmüller J, Fischer-Zirnsak B, Knaus A, Zhu N, Heinrich V, Huber C, Harabula I, Spielmann M, Horn D, Kornak U, Hecht J, Krawitz PM, Nürnberg P, Siebert R, Manzke H, Mundlos S. Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome. Am J Hum Genet. 2014 Dec 04; 95(6):763-70. PMID: 25480037.
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    197. Hussain MS, Battaglia A, Szczepanski S, Kaygusuz E, Toliat MR, Sakakibara S, Altmüller J, Thiele H, Nürnberg G, Moosa S, Yigit G, Beleggia F, Tinschert S, Clayton-Smith J, Vasudevan P, Urquhart JE, Donnai D, Fryer A, Percin F, Brancati F, Dobbie A, Smigiel R, Gillessen-Kaesbach G, Wollnik B, Noegel AA, Newman WG, Nürnberg P. Mutations in CKAP2L, the human homolog of the mouse Radmis gene, cause Filippi syndrome. Am J Hum Genet. 2014 Nov 06; 95(5):622-32. PMID: 25439729.
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    198. Schubert J, Siekierska A, Langlois M, May P, Huneau C, Becker F, Muhle H, Suls A, Lemke JR, de Kovel CG, Thiele H, Konrad K, Kawalia A, Toliat MR, Sander T, Rüschendorf F, Caliebe A, Nagel I, Kohl B, Kecskés A, Jacmin M, Hardies K, Weckhuysen S, Riesch E, Dorn T, Brilstra EH, Baulac S, Møller RS, Hjalgrim H, Koeleman BP, Jurkat-Rott K, Lehman-Horn F, Roach JC, Glusman G, Hood L, Galas DJ, Martin B, de Witte PA, Biskup S, De Jonghe P, Helbig I, Balling R, Nürnberg P, Crawford AD, Esguerra CV, Weber YG, Lerche H. Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes. Nat Genet. 2014 Dec; 46(12):1327-32. PMID: 25362483.
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    199. Hallmann K, Zsurka G, Moskau-Hartmann S, Kirschner J, Korinthenberg R, Ruppert AK, Ozdemir O, Weber Y, Becker F, Lerche H, Elger CE, Thiele H, Nürnberg P, Sander T, Kunz WS. A homozygous splice-site mutation in CARS2 is associated with progressive myoclonic epilepsy. Neurology. 2014 Dec 02; 83(23):2183-7. PMID: 25361775.
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    200. Martin CA, Ahmad I, Klingseisen A, Hussain MS, Bicknell LS, Leitch A, Nürnberg G, Toliat MR, Murray JE, Hunt D, Khan F, Ali Z, Tinschert S, Ding J, Keith C, Harley ME, Heyn P, Müller R, Hoffmann I, Cormier-Daire V, Dollfus H, Dupuis L, Bashamboo A, McElreavey K, Kariminejad A, Mendoza-Londono R, Moore AT, Saggar A, Schlechter C, Weleber R, Thiele H, Altmüller J, Höhne W, Hurles ME, Noegel AA, Baig SM, Nürnberg P, Jackson AP. Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy. Nat Genet. 2014 Dec; 46(12):1283-1292. PMID: 25344692.
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    201. Horpaopan S, Spier I, Zink AM, Altmüller J, Holzapfel S, Laner A, Vogt S, Uhlhaas S, Heilmann S, Stienen D, Pasternack SM, Keppler K, Adam R, Kayser K, Moebus S, Draaken M, Degenhardt F, Engels H, Hofmann A, Nöthen MM, Steinke V, Perez-Bouza A, Herms S, Holinski-Feder E, Fröhlich H, Thiele H, Hoffmann P, Aretz S. Genome-wide CNV analysis in 221 unrelated patients and targeted high-throughput sequencing reveal novel causative candidate genes for colorectal adenomatous polyposis. Int J Cancer. 2015 Mar 15; 136(6):E578-89. PMID: 25219767.
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    202. Lessel D, Vaz B, Halder S, Lockhart PJ, Marinovic-Terzic I, Lopez-Mosqueda J, Philipp M, Sim JC, Smith KR, Oehler J, Cabrera E, Freire R, Pope K, Nahid A, Norris F, Leventer RJ, Delatycki MB, Barbi G, von Ameln S, Högel J, Degoricija M, Fertig R, Burkhalter MD, Hofmann K, Thiele H, Altmüller J, Nürnberg G, Nürnberg P, Bahlo M, Martin GM, Aalfs CM, Oshima J, Terzic J, Amor DJ, Dikic I, Ramadan K, Kubisch C. Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features. Nat Genet. 2014 Nov; 46(11):1239-44. PMID: 25261934.
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    203. Buket Basmanav F, Fritz G, Lestringant GG, Pachat D, Hoffjan S, Fischer J, Wehner M, Wolf S, Thiele H, Altmüller J, Pulimood SA, Rütten A, Kruse R, Hanneken S, Frank J, Danda S, Bygum A, Betz RC. Pathogenicity of POFUT1 in Dowling-Degos disease: additional mutations and clinical overlap with reticulate acropigmentation of kitamura. J Invest Dermatol. 2015 Feb; 135(2):615-618. PMID: 25229252.
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    204. Beck BB, Phillips JB, Bartram MP, Wegner J, Thoenes M, Pannes A, Sampson J, Heller R, Göbel H, Koerber F, Neugebauer A, Hedergott A, Nürnberg G, Nürnberg P, Thiele H, Altmüller J, Toliat MR, Staubach S, Boycott KM, Valente EM, Janecke AR, Eisenberger T, Bergmann C, Tebbe L, Wang Y, Wu Y, Fry AM, Westerfield M, Wolfrum U, Bolz HJ. Mutation of POC1B in a severe syndromic retinal ciliopathy. Hum Mutat. 2014 Oct; 35(10):1153-62. PMID: 25044745.
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    205. Reinthaler EM, Lal D, Jurkowski W, Feucht M, Steinböck H, Gruber-Sedlmayr U, Ronen GM, Geldner J, Haberlandt E, Neophytou B, Hahn A, Altmüller J, Thiele H, Toliat MR, Lerche H, Nürnberg P, Sander T, Neubauer BA, Zimprich F. Analysis of ELP4, SRPX2, and interacting genes in typical and atypical rolandic epilepsy. Epilepsia. 2014 Aug; 55(8):e89-93. PMID: 24995671.
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    206. Lessel D, Saha B, Hisama F, Kaymakamzade B, Nurlu G, Gursoy-Özdemir Y, Thiele H, Nürnberg P, Martin GM, Kubisch C, Oshima J. Atypical Aicardi-Goutieres syndrome: is the WRN locus a modifier? . 2014 Oct; 164A(10):2510-3. PMID: 24989684.
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    207. Khan MA, Rupp VM, Orpinell M, Hussain MS, Altmüller J, Steinmetz MO, Enzinger C, Thiele H, Höhne W, Nürnberg G, Baig SM, Ansar M, Nürnberg P, Vincent JB, Speicher MR, Gönczy P, Windpassinger C. A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family. Hum Mol Genet. 2014 Nov 15; 23(22):5940-9. PMID: 24951542.
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    208. Eitel I, Thiele H. Importance of visualization the myocardium at risk in myocardial infarction. Eur Heart J Cardiovasc Imaging. 2014 Sep; 15(9):1054-5. PMID: 24925146.
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    209. Lal D, Reinthaler EM, Schubert J, Muhle H, Riesch E, Kluger G, Jabbari K, Kawalia A, Bäumel C, Holthausen H, Hahn A, Feucht M, Neophytou B, Haberlandt E, Becker F, Altmüller J, Thiele H, Lemke JR, Lerche H, Nürnberg P, Sander T, Weber Y, Zimprich F, Neubauer BA. DEPDC5 mutations in genetic focal epilepsies of childhood. Ann Neurol. 2014 May; 75(5):788-92. PMID: 24591017.
      Citations:    
    210. Ng J, Zhen J, Meyer E, Erreger K, Li Y, Kakar N, Ahmad J, Thiele H, Kubisch C, Rider NL, Morton DH, Strauss KA, Puffenberger EG, D'Agnano D, Anikster Y, Carducci C, Hyland K, Rotstein M, Leuzzi V, Borck G, Reith ME, Kurian MA. Dopamine transporter deficiency syndrome: phenotypic spectrum from infancy to adulthood. Brain. 2014 Apr; 137(Pt 4):1107-19. PMID: 24613933.
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    211. Basmanav FB, Oprisoreanu AM, Pasternack SM, Thiele H, Fritz G, Wenzel J, Größer L, Wehner M, Wolf S, Fagerberg C, Bygum A, Altmüller J, Rütten A, Parmentier L, El Shabrawi-Caelen L, Hafner C, Nürnberg P, Kruse R, Schoch S, Hanneken S, Betz RC. Mutations in POGLUT1, encoding protein O-glucosyltransferase 1, cause autosomal-dominant Dowling-Degos disease. Am J Hum Genet. 2014 Jan 02; 94(1):135-43. PMID: 24387993.
      Citations:    
    212. Leipold E, Liebmann L, Korenke GC, Heinrich T, Giesselmann S, Baets J, Ebbinghaus M, Goral RO, Stödberg T, Hennings JC, Bergmann M, Altmüller J, Thiele H, Wetzel A, Nürnberg P, Timmerman V, De Jonghe P, Blum R, Schaible HG, Weis J, Heinemann SH, Hübner CA, Kurth I. A de novo gain-of-function mutation in SCN11A causes loss of pain perception. Nat Genet. 2013 Nov; 45(11):1399-404. PMID: 24036948.
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    213. Koehler K, Malik M, Mahmood S, Gießelmann S, Beetz C, Hennings JC, Huebner AK, Grahn A, Reunert J, Nürnberg G, Thiele H, Altmüller J, Nürnberg P, Mumtaz R, Babovic-Vuksanovic D, Basel-Vanagaite L, Borck G, Brämswig J, Mühlenberg R, Sarda P, Sikiric A, Anyane-Yeboa K, Zeharia A, Ahmad A, Coubes C, Wada Y, Marquardt T, Vanderschaeghe D, Van Schaftingen E, Kurth I, Huebner A, Hübner CA. Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunction. Am J Hum Genet. 2013 Oct 03; 93(4):727-34. PMID: 24035193.
      Citations:    
    214. Lal D, Reinthaler EM, Altmüller J, Toliat MR, Thiele H, Nürnberg P, Lerche H, Hahn A, Møller RS, Muhle H, Sander T, Zimprich F, Neubauer BA. RBFOX1 and RBFOX3 mutations in rolandic epilepsy. PLoS One. 2013; 8(9):e73323. PMID: 24039908.
      Citations:    
    215. Lemke JR, Lal D, Reinthaler EM, Steiner I, Nothnagel M, Alber M, Geider K, Laube B, Schwake M, Finsterwalder K, Franke A, Schilhabel M, Jähn JA, Muhle H, Boor R, Van Paesschen W, Caraballo R, Fejerman N, Weckhuysen S, De Jonghe P, Larsen J, Møller RS, Hjalgrim H, Addis L, Tang S, Hughes E, Pal DK, Veri K, Vaher U, Talvik T, Dimova P, Guerrero López R, Serratosa JM, Linnankivi T, Lehesjoki AE, Ruf S, Wolff M, Buerki S, Wohlrab G, Kroell J, Datta AN, Fiedler B, Kurlemann G, Kluger G, Hahn A, Haberlandt DE, Kutzer C, Sperner J, Becker F, Weber YG, Feucht M, Steinböck H, Neophythou B, Ronen GM, Gruber-Sedlmayr U, Geldner J, Harvey RJ, Hoffmann P, Herms S, Altmüller J, Toliat MR, Thiele H, Nürnberg P, Wilhelm C, Stephani U, Helbig I, Lerche H, Zimprich F, Neubauer BA, Biskup S, von Spiczak S. Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes. Nat Genet. 2013 Sep; 45(9):1067-72. PMID: 23933819.
      Citations:    
    216. Basel-Vanagaite L, Hershkovitz T, Heyman E, Raspall-Chaure M, Kakar N, Smirin-Yosef P, Vila-Pueyo M, Kornreich L, Thiele H, Bode H, Lagovsky I, Dahary D, Haviv A, Hubshman MW, Pasmanik-Chor M, Nürnberg P, Gothelf D, Kubisch C, Shohat M, Macaya A, Borck G. Biallelic SZT2 mutations cause infantile encephalopathy with epilepsy and dysmorphic corpus callosum. Am J Hum Genet. 2013 Sep 05; 93(3):524-9. PMID: 23932106.
      Citations:    
    217. Hussain MS, Baig SM, Neumann S, Peche VS, Szczepanski S, Nürnberg G, Tariq M, Jameel M, Khan TN, Fatima A, Malik NA, Ahmad I, Altmüller J, Frommolt P, Thiele H, Höhne W, Yigit G, Wollnik B, Neubauer BA, Nürnberg P, Noegel AA. CDK6 associates with the centrosome during mitosis and is mutated in a large Pakistani family with primary microcephaly. Hum Mol Genet. 2013 Dec 20; 22(25):5199-214. PMID: 23918663.
      Citations:    
    218. Wieczorek D, Bögershausen N, Beleggia F, Steiner-Haldenstätt S, Pohl E, Li Y, Milz E, Martin M, Thiele H, Altmüller J, Alanay Y, Kayserili H, Klein-Hitpass L, Böhringer S, Wollstein A, Albrecht B, Boduroglu K, Caliebe A, Chrzanowska K, Cogulu O, Cristofoli F, Czeschik JC, Devriendt K, Dotti MT, Elcioglu N, Gener B, Goecke TO, Krajewska-Walasek M, Guillén-Navarro E, Hayek J, Houge G, Kilic E, Simsek-Kiper PÖ, López-González V, Kuechler A, Lyonnet S, Mari F, Marozza A, Mathieu Dramard M, Mikat B, Morin G, Morice-Picard F, Ozkinay F, Rauch A, Renieri A, Tinschert S, Utine GE, Vilain C, Vivarelli R, Zweier C, Nürnberg P, Rahmann S, Vermeesch J, Lüdecke HJ, Zeschnigk M, Wollnik B. A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling. Hum Mol Genet. 2013 Dec 20; 22(25):5121-35. PMID: 23906836.
      Citations:    
    219. Bögershausen N, Shahrzad N, Chong JX, von Kleist-Retzow JC, Stanga D, Li Y, Bernier FP, Loucks CM, Wirth R, Puffenberger EG, Hegele RA, Schreml J, Lapointe G, Keupp K, Brett CL, Anderson R, Hahn A, Innes AM, Suchowersky O, Mets MB, Nürnberg G, McLeod DR, Thiele H, Waggoner D, Altmüller J, Boycott KM, Schoser B, Nürnberg P, Ober C, Heller R, Parboosingh JS, Wollnik B, Sacher M, Lamont RE. Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability. Am J Hum Genet. 2013 Jul 11; 93(1):181-90. PMID: 23830518.
      Citations:    
    220. Arif B, Kumar KR, Seibler P, Vulinovic F, Fatima A, Winkler S, Nürnberg G, Thiele H, Nürnberg P, Jamil AZ, Brüggemann A, Abbas G, Klein C, Naz S, Lohmann K. A novel OPA3 mutation revealed by exome sequencing: an example of reverse phenotyping. JAMA Neurol. 2013 Jun; 70(6):783-7. PMID: 23700088.
      Citations:    
    221. Varga RE, Schüle R, Fadel H, Valenzuela I, Speziani F, Gonzalez M, Rudenskaia G, Nürnberg G, Thiele H, Altmüller J, Alvarez V, Gamez J, Garbern JY, Nürnberg P, Zuchner S, Beetz C. Do not trust the pedigree: reduced and sex-dependent penetrance at a novel mutation hotspot in ATL1 blurs autosomal dominant inheritance of spastic paraplegia. Hum Mutat. 2013 Jun; 34(6):860-3. PMID: 23483706.
      Citations:    
    222. Eckl KM, Tidhar R, Thiele H, Oji V, Hausser I, Brodesser S, Preil ML, Onal-Akan A, Stock F, Müller D, Becker K, Casper R, Nürnberg G, Altmüller J, Nürnberg P, Traupe H, Futerman AH, Hennies HC. Impaired epidermal ceramide synthesis causes autosomal recessive congenital ichthyosis and reveals the importance of ceramide acyl chain length. J Invest Dermatol. 2013 Sep; 133(9):2202-11. PMID: 23549421.
      Citations:    
    223. Lemaire M, Frémeaux-Bacchi V, Schaefer F, Choi M, Tang WH, Le Quintrec M, Fakhouri F, Taque S, Nobili F, Martinez F, Ji W, Overton JD, Mane SM, Nürnberg G, Altmüller J, Thiele H, Morin D, Deschenes G, Baudouin V, Llanas B, Collard L, Majid MA, Simkova E, Nürnberg P, Rioux-Leclerc N, Moeckel GW, Gubler MC, Hwa J, Loirat C, Lifton RP. Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome. Nat Genet. 2013 May; 45(5):531-6. PMID: 23542698.
      Citations:    
    224. Beetz C, Johnson A, Schuh AL, Thakur S, Varga RE, Fothergill T, Hertel N, Bomba-Warczak E, Thiele H, Nürnberg G, Altmüller J, Saxena R, Chapman ER, Dent EW, Nürnberg P, Audhya A. Inhibition of TFG function causes hereditary axon degeneration by impairing endoplasmic reticulum structure. Proc Natl Acad Sci U S A. 2013 Mar 26; 110(13):5091-6. PMID: 23479643.
      Citations:    
    225. Hämmerer D, Biele G, Müller V, Thiele H, Nürnberg P, Heekeren HR, Li SC. Effects of PPP1R1B (DARPP-32) Polymorphism on Feedback-Related Brain Potentials Across the Life Span. Front Psychol. 2013; 4:89. PMID: 23459765.
      Citations:    
    226. Lal D, Becker K, Motameny S, Altmüller J, Thiele H, Nürnberg P, Ahting U, Rolinski B, Neubauer BA, Hahn A. Homozygous missense mutation of NDUFV1 as the cause of infantile bilateral striatal necrosis. Neurogenetics. 2013 Feb; 14(1):85-7. PMID: 23334465.
      Citations:    
    227. Mutschler J, Abbruzzese E, von der Goltz C, Dinter C, Mobascher A, Thiele H, Diaz-Lacava A, Dahmen N, Gallinat J, Majic T, Petrovsky N, Thuerauf N, Kornhuber J, Gründer G, Rademacher L, Brinkmeyer J, Wienker T, Wagner M, Winterer G, Kiefer F. Lack of association of a functional catechol-O-methyltransferase gene polymorphism with risk of tobacco smoking: results from a multicenter case-control study. Nicotine Tob Res. 2013 Jul; 15(7):1322-7. PMID: 23288874.
      Citations:    
    228. Basel-Vanagaite L, Dallapiccola B, Ramirez-Solis R, Segref A, Thiele H, Edwards A, Arends MJ, Miró X, White JK, Désir J, Abramowicz M, Dentici ML, Lepri F, Hofmann K, Har-Zahav A, Ryder E, Karp NA, Estabel J, Gerdin AK, Podrini C, Ingham NJ, Altmüller J, Nürnberg G, Frommolt P, Abdelhak S, Pasmanik-Chor M, Konen O, Kelley RI, Shohat M, Nürnberg P, Flint J, Steel KP, Hoppe T, Kubisch C, Adams DJ, Borck G. Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome. Am J Hum Genet. 2012 Dec 07; 91(6):998-1010. PMID: 23200864.
      Citations:    
    229. Borck G, Shin BS, Stiller B, Mimouni-Bloch A, Thiele H, Kim JR, Thakur M, Skinner C, Aschenbach L, Smirin-Yosef P, Har-Zahav A, Nürnberg G, Altmüller J, Frommolt P, Hofmann K, Konen O, Nürnberg P, Munnich A, Schwartz CE, Gothelf D, Colleaux L, Dever TE, Kubisch C, Basel-Vanagaite L. eIF2? mutation that disrupts eIF2 complex integrity links intellectual disability to impaired translation initiation. Mol Cell. 2012 Nov 30; 48(4):641-6. PMID: 23063529.
      Citations:    
    230. Coelho D, Kim JC, Miousse IR, Fung S, du Moulin M, Buers I, Suormala T, Burda P, Frapolli M, Stucki M, Nürnberg P, Thiele H, Robenek H, Höhne W, Longo N, Pasquali M, Mengel E, Watkins D, Shoubridge EA, Majewski J, Rosenblatt DS, Fowler B, Rutsch F, Baumgartner MR. Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism. Nat Genet. 2012 Oct; 44(10):1152-5. PMID: 22922874.
      Citations:    
    231. Helmstaedter C, Mihov Y, Toliat MR, Thiele H, Nuernberg P, Schoch S, Surges R, Elger CE, Kunz WS, Hurlemann R. Genetic variation in dopaminergic activity is associated with the risk for psychiatric side effects of levetiracetam. Epilepsia. 2013 Jan; 54(1):36-44. PMID: 22881836.
      Citations:    
    232. Rosewich H, Thiele H, Ohlenbusch A, Maschke U, Altmüller J, Frommolt P, Zirn B, Ebinger F, Siemes H, Nürnberg P, Brockmann K, Gärtner J. Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study. Lancet Neurol. 2012 Sep; 11(9):764-73. PMID: 22850527.
      Citations:    
    233. Mutschler J, Abbruzzese E, von der Goltz C, Dinter C, Mobascher A, Thiele H, Diaz-Lacava A, Dahmen N, Gallinat J, Majic T, Petrovsky N, Kornhuber J, Thuerauf N, Gründer G, Brinkmeyer J, Wienker T, Wagner M, Winterer G, Kiefer F. Genetic variation in the neuropeptide Y gene promoter is associated with increased risk of tobacco smoking. Eur Addict Res. 2012; 18(5):246-52. PMID: 22584873.
      Citations:    
    234. Hussain MS, Baig SM, Neumann S, Nürnberg G, Farooq M, Ahmad I, Alef T, Hennies HC, Technau M, Altmüller J, Frommolt P, Thiele H, Noegel AA, Nürnberg P. A truncating mutation of CEP135 causes primary microcephaly and disturbed centrosomal function. Am J Hum Genet. 2012 May 04; 90(5):871-8. PMID: 22521416.
      Citations:    
    235. Ender J, Singh R, Nakahira J, Subramanian S, Thiele H, Mukherjee C. Echo didactic: visualization of the circumflex artery in the perioperative setting with transesophageal echocardiography. Anesth Analg. 2012 Jul; 115(1):22-6. PMID: 22504216.
      Citations:    
    236. Asharani PV, Keupp K, Semler O, Wang W, Li Y, Thiele H, Yigit G, Pohl E, Becker J, Frommolt P, Sonntag C, Altmüller J, Zimmermann K, Greenspan DS, Akarsu NA, Netzer C, Schönau E, Wirth R, Hammerschmidt M, Nürnberg P, Wollnik B, Carney TJ. Attenuated BMP1 function compromises osteogenesis, leading to bone fragility in humans and zebrafish. Am J Hum Genet. 2012 Apr 06; 90(4):661-74. PMID: 22482805.
      Citations:    
    237. Quednow BB, Brinkmeyer J, Mobascher A, Nothnagel M, Musso F, Gründer G, Savary N, Petrovsky N, Frommann I, Lennertz L, Spreckelmeyer KN, Wienker TF, Dahmen N, Thuerauf N, Clepce M, Kiefer F, Majic T, Mössner R, Maier W, Gallinat J, Diaz-Lacava A, Toliat MR, Thiele H, Nürnberg P, Wagner M, Winterer G. Schizophrenia risk polymorphisms in the TCF4 gene interact with smoking in the modulation of auditory sensory gating. Proc Natl Acad Sci U S A. 2012 Apr 17; 109(16):6271-6. PMID: 22451930.
      Citations:    
    238. Frommolt P, Abdallah AT, Altmüller J, Motameny S, Thiele H, Becker C, Stemshorn K, Fischer M, Freilinger T, Nürnberg P. Assessing the enrichment performance in targeted resequencing experiments. Hum Mutat. 2012 Apr; 33(4):635-41. PMID: 22290614.
      Citations:    
    239. Weber S, Thiele H, Mir S, Toliat MR, Sozeri B, Reutter H, Draaken M, Ludwig M, Altmüller J, Frommolt P, Stuart HM, Ranjzad P, Hanley NA, Jennings R, Newman WG, Wilcox DT, Thiel U, Schlingmann KP, Beetz R, Hoyer PF, Konrad M, Schaefer F, Nürnberg P, Woolf AS. Muscarinic Acetylcholine Receptor M3 Mutation Causes Urinary Bladder Disease and a Prune-Belly-like Syndrome. Am J Hum Genet. 2011 Nov 11; 89(5):668-74. PMID: 22077972.
      Citations:    
    240. Thiele H, Fürnau G, Fischer J, Schuler G. Tools & techniques: Percutaneous left ventricular assist devices. EuroIntervention. 2011 Sep; 7(5):636-7. PMID: 21930469.
      Citations:    
    241. Patel MR, Thiele H, Smalling RW, Chandra P, Zhou Y, Cohen M, Perera D, Ohman EM. A multicenter, randomized, controlled study of mechanical left ventricular unloading with counterpulsation to reduce infarct size prepercutaneous coronary intervention for acute myocardial infarction: rationale and design of the Counterpulsation Reduces Infarct Size Acute Myocardial Infarction trial. Am Heart J. 2011 Jul; 162(1):47-55.e1. PMID: 21742089.
      Citations:    
    242. Huebner AK, Gandia M, Frommolt P, Maak A, Wicklein EM, Thiele H, Altmüller J, Wagner F, Viñuela A, Aguirre LA, Moreno F, Maier H, Rau I, Giesselmann S, Nürnberg G, Gal A, Nürnberg P, Hübner CA, del Castillo I, Kurth I. Nonsense mutations in SMPX, encoding a protein responsive to physical force, result in X-chromosomal hearing loss. Am J Hum Genet. 2011 May 13; 88(5):621-7. PMID: 21549336.
      Citations:    
    243. Thiele H, du Moulin M, Barczyk K, George C, Schwindt W, Nürnberg G, Frosch M, Kurlemann G, Roth J, Nürnberg P, Rutsch F. Cerebral arterial stenoses and stroke: novel features of Aicardi-Goutières syndrome caused by the Arg164X mutation in SAMHD1 are associated with altered cytokine expression. Hum Mutat. 2010 Nov; 31(11):E1836-50. PMID: 20842748.
      Citations:    
    244. Mobascher A, Brinkmeyer J, Thiele H, Toliat MR, Steffens M, Warbrick T, Musso F, Wittsack HJ, Saleh A, Schnitzler A, Winterer G. The val158met polymorphism of human catechol-O-methyltransferase (COMT) affects anterior cingulate cortex activation in response to painful laser stimulation. Mol Pain. 2010 May 31; 6:32. PMID: 20509977.
      Citations:    
    245. Henneke M, Diekmann S, Ohlenbusch A, Kaiser J, Engelbrecht V, Kohlschütter A, Krätzner R, Madruga-Garrido M, Mayer M, Opitz L, Rodriguez D, Rüschendorf F, Schumacher J, Thiele H, Thoms S, Steinfeld R, Nürnberg P, Gärtner J. RNASET2-deficient cystic leukoencephalopathy resembles congenital cytomegalovirus brain infection. Nat Genet. 2009 Jul; 41(7):773-5. PMID: 19525954.
      Citations:    
    246. Dill T, Schächinger V, Rolf A, Möllmann S, Thiele H, Tillmanns H, Assmus B, Dimmeler S, Zeiher AM, Hamm C. Intracoronary administration of bone marrow-derived progenitor cells improves left ventricular function in patients at risk for adverse remodeling after acute ST-segment elevation myocardial infarction: results of the Reinfusion of Enriched Progenitor cells And Infarct Remodeling in Acute Myocardial Infarction study (REPAIR-AMI) cardiac magnetic resonance imaging substudy. Am Heart J. 2009 Mar; 157(3):541-7. PMID: 19249426.
      Citations:    
    247. Qureischie H, Heun R, Lütjohann D, Popp J, Jessen F, Ledschbor-Frahnert C, Thiele H, Maier W, Hentschel F, Kelemen P, Kölsch H. CETP polymorphisms influence cholesterol metabolism but not Alzheimer's disease risk. Brain Res. 2008 Sep 26; 1232:1-6. PMID: 18680734.
      Citations:    
    248. Kemp C, Thiele H, Dankof A, Schmidt G, Lauster C, Fernahl G, Lauster R. Cleft lip and/or palate with monogenic autosomal recessive transmission in Pyrenees shepherd dogs. Cleft Palate Craniofac J. 2009 Jan; 46(1):81-8. PMID: 19115787.
      Citations:    
    249. Hillmer AM, Flaquer A, Hanneken S, Eigelshoven S, Kortüm AK, Brockschmidt FF, Golla A, Metzen C, Thiele H, Kolberg S, Reinartz R, Betz RC, Ruzicka T, Hennies HC, Kruse R, Nöthen MM. Genome-wide scan and fine-mapping linkage study of androgenetic alopecia reveals a locus on chromosome 3q26. Am J Hum Genet. 2008 Mar; 82(3):737-43. PMID: 18304493.
      Citations:    
    250. Netzer C, Freudenberg J, Toliat MR, Heinze A, Heinze-Kuhn K, Thiele H, Goebel I, Nürnberg P, Ptácek LJ, Göbel H, Todt U, Kubisch C. Genetic association studies of the chromosome 15 GABA-A receptor cluster in migraine with aura. . 2008 Jan 05; 147B(1):37-41. PMID: 17680603.
      Citations:    
    251. Jenne DE, Kley RA, Vorgerd M, Schröder JM, Weis J, Reimann H, Albrecht B, Nürnberg P, Thiele H, Müller CR, Meng G, Witt CC, Labeit S. Limb girdle muscular dystrophy in a sibling pair with a homozygous Ser606Leu mutation in the alternatively spliced IS2 region of calpain 3. Biol Chem. 2005 Jan; 386(1):61-7. PMID: 15843148.
      Citations:    
    252. Thiele H, Nürnberg P. HaploPainter: a tool for drawing pedigrees with complex haplotypes. Bioinformatics. 2005 Apr 15; 21(8):1730-2. PMID: 15377505.
      Citations:    
    253. Thiele H, Sakano M, Kitagawa H, Sugahara K, Rajab A, Höhne W, Ritter H, Leschik G, Nürnberg P, Mundlos S. Loss of chondroitin 6-O-sulfotransferase-1 function results in severe human chondrodysplasia with progressive spinal involvement. Proc Natl Acad Sci U S A. 2004 Jul 06; 101(27):10155-60. PMID: 15215498.
      Citations:    
    254. Uhlenberg B, Schuelke M, Rüschendorf F, Ruf N, Kaindl AM, Henneke M, Thiele H, Stoltenburg-Didinger G, Aksu F, Topaloglu H, Nürnberg P, Hübner C, Weschke B, Gärtner J. Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease. Am J Hum Genet. 2004 Aug; 75(2):251-60. PMID: 15192806.
      Citations:    
    255. Pfister M, Thiele H, Van Camp G, Fransen E, Apaydin F, Aydin O, Leistenschneider P, Devoto M, Zenner HP, Blin N, Nürnberg P, Ozkarakas H, Kupka S. A genotype-phenotype correlation with gender-effect for hearing impairment caused by TECTA mutations. Cell Physiol Biochem. 2004; 14(4-6):369-76. PMID: 15319541.
      Citations:    
    256. Pfister M, Tóth T, Thiele H, Haack B, Blin N, Zenner HP, Sziklai I, Nürnberg P, Kupka S. A 4-bp insertion in the eya-homologous region (eyaHR) of EYA4 causes hearing impairment in a Hungarian family linked to DFNA10. Mol Med. 2002 Oct; 8(10):607-11. PMID: 12477971.
      Citations:    
    257. Cryns K, Pfister M, Pennings RJ, Bom SJ, Flothmann K, Caethoven G, Kremer H, Schatteman I, Köln KA, Tóth T, Kupka S, Blin N, Nürnberg P, Thiele H, van de Heyning PH, Reardon W, Stephens D, Cremers CW, Smith RJ, Van Camp G. Mutations in the WFS1 gene that cause low-frequency sensorineural hearing loss are small non-inactivating mutations. Hum Genet. 2002 May; 110(5):389-94. PMID: 12073007.
      Citations:    
    258. Fang J, Rothenburg S, Koch-Nolte F, Thiele HG, Haag F. Mutation of a putative TATA motif does not affect transcription by the promoter of the rat T cell differentiation marker RT6. Transplant Proc. 1999 May; 31(3):1629-30. PMID: 10331029.
      Citations:    
    259. Koch-Nolte F, Kühl M, Haag F, Cetkovic-Cvrlje M, Leiter EH, Thiele HG. Assignment of the human and mouse genes for muscle ecto mono (ADPribosyl)transferase to a conserved linkage group on human chromosome 11p15 and mouse chromosome 7. Genomics. 1996 Aug 15; 36(1):215-6. PMID: 8812442.
      Citations:    
    260. Koch-Nolte F, Petersen D, Balasubramanian S, Haag F, Kahlke D, Willer T, Kastelein R, Bazan F, Thiele HG. Mouse T cell membrane proteins Rt6-1 and Rt6-2 are arginine/protein mono(ADPribosyl)transferases and share secondary structure motifs with ADP-ribosylating bacterial toxins. J Biol Chem. 1996 Mar 29; 271(13):7686-93. PMID: 8631807.
      Citations:    
    261. Koch-Nolte F, Klein J, Hollmann C, Kühl M, Haag F, Gaskins HR, Leiter E, Thiele HG. Defects in the structure and expression of the genes for the T cell marker Rt6 in NZW and (NZB x NZW)F1 mice. Int Immunol. 1995 May; 7(5):883-90. PMID: 7547715.
      Citations:    
    262. Koch-Nolte F, Singh S, Haag F, Kühl M, Thiele HG. BglII identifies a frequent biallelic DNA polymorphism of the human RT6 gene. Hum Genet. 1994 Jun; 93(6):724. PMID: 8005606.
      Citations:    
    263. Raedler A, Schreiber S, Schulz KH, Peters S, Greten H, Thiele HG. Activated Fc alpha T cells in Crohn's disease are involved in regulation of IgA. Adv Exp Med Biol. 1988; 237:665-73. PMID: 3267066.
      Citations:    
    264. Arndt R, Stark R, Klein P, Müller A, Thiele HG. Solubilization and molecular characterization of membrane-bound antigens shared by thymocytes and brain. Eur J Immunol. 1976 May; 6(5):333-40. PMID: 62668.
      Citations:    
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