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Ahmad, I., Baig, S. M., Abdulkareem, A. R., Hussain, M. S., Sur, I., Toliat, M. R., Nuernberg, G., Dalibor, N., Moawia, A., Waseem, S. S., Asif, M., Nagra, H., Sher, M., Khan, M. M. A., Hassan, I., Rehman, S. Ur, Thiele, H., Altmueller, J., Noegel, A. A. and Nuernberg, P. (2017). Genetic heterogeneity in Pakistani microcephaly families revisited. Clin. Genet., 92 (1). S. 62 - 69. HOBOKEN: WILEY. ISSN 1399-0004
Baessler, B., Luecke, C., Klinge, K., Kandolf, R., Schuler, G., Maintz, D., Thiele, H. and Lurz, P. (2017). Texture analysis and machine learning applied on cardiac magnetic resonance T2 mapping: incremental diagnostic value in biopsy-proven acute myocarditis. Eur. Heart J., 38. S. 544 - 545. OXFORD: OXFORD UNIV PRESS. ISSN 1522-9645
Basmanav, B., Oprisoreanu, A., Fritz, G., Wenzel, J., Lestringant, G., Thiele, H., Hanneken, S., Bygum, A. and Betz, R. (2014). Mutations in POGLUT1 and POFUT1 cause Dowling-Degos disease and elucidate a gene-phenotype correlation. J. Invest. Dermatol., 134. S. S53 - 1. NEW YORK: NATURE PUBLISHING GROUP. ISSN 1523-1747
Basmanav, F. B., Cau, L., Tafazzoli, A., Mechin, M., Wolf, S., Romano, M. T., Valentin, F., Wiegmann, H., Huchenq, A., Kandil, R., Bartels, N. Garcia, Kilic, A., George, S., Ralser, D. J., Bergner, S., Ferguson, D. J., Oprisoreanu, A., Wehner, M., Thiele, H., Altmueller, J., Nuernberg, P., Swan, D., Houniet, D., Buechner, 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. and Betz, R. C. (2017). Mutations in three genes encoding proteins involved in hair shaft formation cause uncombable hair syndrome. Exp. Dermatol., 26 (3). S. E48 - 1. HOBOKEN: WILEY. ISSN 1600-0625
Basmanav, F. U., Cau, L., Tafazzoli, A., Mechin, M., Wolf, S., Romano, M., Valentin, F., Wiegmann, H., Huchenq, A., Bartels, N. Garcia, Kilic, A., George, S., Ralser, D. J., Ferguson, D. J., Thiele, H., Altmueller, J., Nuernberg, P., Buchner, A., Weibel, L., Wagner, N., Grimalt, R., Bygum, A., Serre, G., Blume-Peytavi, U., Sprecher, E., Oji, V., Hamm, H., Farrant, P., Simon, M. and Betz, R. C. (2018). Mutations in three genes encoding proteins involved in hair shaft formation cause uncombable hair syndrome. Eur. J. Hum. Genet., 26. S. 45 - 47. LONDON: NATURE PUBLISHING GROUP. ISSN 1476-5438
Cesarato, N., Malki, L., Sarig, O., Mohamad, J., Canter, T., Assaf, S., Pavlovsky, M., Vodo, D., Anis, Y., Bihari, O., Malovitski, K., Gat, A., Thiele, H., White, B. E. Perez, Samuelov, L., Nanda, A., Paller, A. S., Betz, R. C. and Sprecher, E. (2020). Loss-of-function variants in C3ORF52 result in localized autosomal recessive hypotrichosis. Eur. J. Hum. Genet., 28 (SUPPL 1). S. 233 - 235. LONDON: SPRINGERNATURE. ISSN 1476-5438
Dworschak, G. C., Punetha, J., Kalanithy, J. C., Mingardo, E., Erdem, H. B., Akdemir, Z. C., Karaca, E., Mitani, T., Marafi, D., Fatih, J. M., Jhangiani, S. N., Hunter, J. V., Dakal, T., Dhabhai, B., Dabbagh, O., Alsaif, H. S., Alkuraya, F. S., Maroofian, R., Houlden, H., Efthymiou, S., Dominik, N., Salpietro, V., Sultan, T., Haider, S., Bibi, F., Thiele, H., Hoefele, J., Riedhammer, K. M., Wagner, M., Guella, I., Demos, M., Keren, B., Buratti, J., Charles, P., Nava, C., Valkanas, E., Waddell, L. B., Jones, K. J., Oates, E. C., Cooper, S. T., MacArthur, D., Schnur, R. E., Hoganson, G. E., Burton, J. E., McEntagart, M., Pehlivan, D., Posey, J. E., Lupski, J. R. and Reutter, H. (2020). Biallelic and monoallelic variants in PLXNA1 cause a syndromic disorder with neurodevelopmental and oculo-cerebral anomalies. Eur. J. Hum. Genet., 28 (SUPPL 1). S. 130 - 132. LONDON: SPRINGERNATURE. ISSN 1476-5438
Gruber, R., Rainer, G., Weiss, A., Udvardi, A., Thiele, H., Eckl, K. M., Schupart, R., Nuernberg, P., Zschocke, J., Schmuth, M., Volc-Platzer, B. and Hennies, H. C. (2017). Morphological alterations in two siblings with autosomal recessive congenital ichthyosis associated with CYP4F22 mutations. Br. J. Dermatol., 176 (4). S. 1068 - 1074. HOBOKEN: WILEY. ISSN 1365-2133
Hedergott, A., Volk, A. E., Herkenrath, P., Thiele, H., Fricke, J., Altmueller, J., Nuernberg, P., Kubisch, C. and Neugebauer, A. (2015). Clinical and genetic findings in a family with NMNAT1-associated Leber congenital amaurosis: case report and review of the literature. Graefes Arch. Clin. Exp. Ophthalmol., 253 (12). S. 2239 - 2247. NEW YORK: SPRINGER. ISSN 1435-702X
Heimbach, A., Hauke, J., Richters, L., Kroeber, S., Altmueller, J., Becker, C., Thiele, H., Nuernberg, P., Bluemcke, B., Neidhardt, G., Riehm, K., Schmutzler, R. and Hahnen, E. (2016). TruRisk (R) based next-generation sequencing reveals a high prevalence of deleterious ATM mutations in BRCA1/2-negative breast and ovarian cancer families. Oncol. Res. Treat., 39. S. 52 - 53. BASEL: KARGER. ISSN 2296-5262
Hoebel, A. K., Drichel, D., van de Vorst, M., Boehmer, A. C., Sivalingam, S., Ishorst, N., Klamt, J., Goelz, L., Alblas, M., Maaser, A., Keppler, K., Zink, A. M., Dixon, M. J., Dixon, J., Hemprich, A., Kruse, T., Graf, I., Dunsche, A., Schmidt, G., Daratsianos, N., Nowak, S., Aldhorae, K. A., Noethen, M. M., Knapp, M., Thiele, H., Gilissen, C., Reutter, H., Hoischen, A., Mangold, E. and Ludwig, K. U. (2017). Candidate Genes for Nonsyndromic Cleft Palate Detected by Exome Sequencing. J. Dent. Res., 96 (11). S. 1314 - 1322. THOUSAND OAKS: SAGE PUBLICATIONS INC. ISSN 1544-0591
Karakaya, M., Keller, N., Altmueller, J., Motameny, S., Thiele, H., Wunderlich, G., Kirschner, J., Schrank, B., Maroofian, R., Paketci, C., Yis, U., Nuernberg, P. and Wirth, B. (2020). Variants causing mitochondrial dysfunction are not rare in non-5q SMA: Re-evaluation of thirty families by exome sequencing. Eur. J. Hum. Genet., 28 (SUPPL 1). S. 442 - 443. LONDON: SPRINGERNATURE. ISSN 1476-5438
Keupp, K., Ernst, C., Bluemcke, B., Versmold, B., Waha, A., Driesen, J., Baasner, A., Larsen, M., Buelow, L., Kroeber, S., Altmueller, J., Thiele, H., Nuernberg, P., Wappenschmidt, B., Neidhardt, G., Rhiem, K., Schmutzler, R., Hahnen, E. and Hauke, J. (2018). Next-generation sequencing via TruRisk (R) genepanel reveal high mutation prevalence in additional risk genes in German BRCA1/2-negative breast and ovarian cancer families. Eur. J. Hum. Genet., 26. S. 541 - 543. LONDON: NATURE PUBLISHING GROUP. ISSN 1476-5438
Keupp, K., Richters, L., Buelow, L., Kroeber, S., Ernst, C., Bluemcke, B., Versmold, B., Waha, A., Driesen, J., Baasner, A., Altmueller, J., Thiele, H., Nuernberg, P., Wappenschmidt, B., Neidhardt, G., Rhiem, K., Schmutzler, R., Hahnen, E. and Hauke, J. (2017). TruRisk (R) based next-generation sequencing in BRCA1/2-negative breast and ovarian cancer families reveal high mutation prevalence in additional risk genes. Cancer Res., 77. PHILADELPHIA: AMER ASSOC CANCER RESEARCH. ISSN 1538-7445
Koller, A. C., Strohmaier, J., Ludwig, K. U., Degenhardt, F. C., Wulff, M., Breuer, D., Winkler, L., Neukirch, F., Maaser, A., Forstner, A., Sivalingam, S., Reif, A., Ramirez, A., Maier, W., Rujescu, D., Giegling, I., Thiele, H., Nuernberg, P., Heilmann-Heimbach, S., Andlauer, T., Fischer, A., Jain, G., Kaurani, L., Klockmeier, K., Worf, K., Krumsiek, J., Wildenauer, D., Schwab, S., Rietschel, M., Noethen, M. M. and Degenhardt, F. (2018). Large family-based exome sequencing study provides new insight into schizophrenia. Eur. J. Hum. Genet., 26. S. 417 - 419. LONDON: NATURE PUBLISHING GROUP. ISSN 1476-5438
Kolvenbach, C. M. K., Weitensteiner, V., Thiele, H., Altmueller, J., Ludwig, M., Ludwig, K., Hilger, A. C., Zhang, R., Hepping, N. and Reutter, H. (2018). Whole-exome sequencing in a three generation family with autosomal-dominant inherited omphalocele. Eur. J. Hum. Genet., 26. S. 982 - 984. LONDON: NATURE PUBLISHING GROUP. ISSN 1476-5438
Larsen, M., Bluemcke, J., Bluemcke, B., Ernst, C., Keupp, K., Buelow, L., Altmueller, J., Thiele, H., Nuernberg, P., Hahnen, E. and Schmutzler, R. (2018). Association of MUTYH with familial breast and ovarian cancer. Eur. J. Hum. Genet., 26. S. 540 - 541. LONDON: NATURE PUBLISHING GROUP. ISSN 1476-5438
Michels, G., Thiele, H., Kluge, S. and Pfister, R. (2017). Do prognostic Prognosticators for extracorporeal cardiopulmonary Resuscitation (ECPR) exist during the non-clinical Circulatory Arrest? Med. Klin.-Intensivmed Notfallmed., 112 (7). S. 634 - 637. NEW YORK: SPRINGER. ISSN 2193-6218
Michels, G., Wengenmayer, F., Hagl, C., Dohmen, C., Boettiger, B. W., Bauersachs, J., Markewitz, A., Bauer, A., Graesner, J-T, Pfister, R., Ghanem, A., Busch, H-J, Kreimeier, U., Beckmann, A., Fischer, M., Kill, C., Janssens, U., Kluge, S., Born, F., Hoffmeister, H. M., Preusch, M., Boeken, U., Riessen, R. and Thiele, H. (2019). Recommendations for extracorporeal cardiopulmonary resuscitation (eCPR): Consensus statement of DGIIN, DGK, DGTHG, DGfK, DGNI, DGAI, DIVI and GRC. Anasthesiol. Intensivmed., 60. S. 84 - 94. EBELSBACH: AKTIV DRUCK & VERLAG GMBH. ISSN 1439-0256
Michels, G., Wengenmayer, T., Hagl, C., Dohmen, C., Boettiger, B. W., Bauersachs, J., Markewitz, A., Bauer, A., Graesner, J. -T., Pfister, R., Ghanem, A., Busch, H. -J., Kreimeier, U., Beckmann, A., Fischer, M., Kill, C., Janssens, U., Kluge, S., Born, F., Hoffmeister, H. M., Preusch, M., Boeken, U., Riessen, R. and Thiele, H. (2019). Recommendations for extracorporeal cardiopulmonary resuscitation (eCPR). Consensus statement of DGIIN, DGK, DGTHG, DGfK, DGNI, DGAI, DIVI and GRC. Z. Herz Thorax Gefasschir., 33 (3). S. 190 - 199. HEIDELBERG: SPRINGER HEIDELBERG. ISSN 1435-1277
Michels, G., Wengenmayer, T., Hagl, C., Dohmen, C., Boettiger, B. W., Bauersachs, J., Markewitz, A., Bauer, A., Graesner, J. -T., Pfister, R., Ghanem, A., Busch, H. -J., Kreimeier, U., Beckmann, A., Fischer, M., Kill, C., Janssens, U., Kluge, S., Born, F., Hoffmeister, H. M., Preusch, M., Boeken, U., Riessen, R. and Thiele, H. (2018). Recommendations for extracorporeal cardiopulmonary resuscitation (eCPR). Consensus statement of DGIIN, DGK, DGTHG, DGfK, DGNI, DGAI, DIVI and GRC. Kardiologe, 12 (5). S. 332 - 342. HEIDELBERG: SPRINGER HEIDELBERG. ISSN 1864-9726
Michels, G., Wengenmayer, T., Hagl, C., Dohmen, C., Boettiger, B. W., Bauersachs, J., Markewitz, A., Bauer, A., Graesner, J. -T., Pfister, R., Ghanem, A., Busch, H. -J., Kreimeier, U., Beckmann, A., Fischer, M., Kill, C., Janssens, U., Kluge, S., Born, F., Hoffmeister, H. M., Preusch, M., Boeken, U., Riessen, R. and Thiele, H. (2018). Recommendations for extracorporeal cardiopulmonary resuscitation (eCPR). Consensus statement of DGIIN, DGK, DGTHG, DGfK, DGNI, DGAI, DIVI and GRC. Med. Klin.-Intensivmed Notfallmed., 113 (6). S. 478 - 487. HEIDELBERG: SPRINGER HEIDELBERG. ISSN 2193-6226
Michels, G., Wengenmayer, T., Hagl, C., Dohmen, C., Boettiger, B. W., Bauersachs, J., Rkewitz, A. Ma, Bauer, A., Graesner, J-T, Pfister, R., Ghanem, A., Busch, H-J, Kreimeier, U., Beckmann, A., Fischer, M., Kill, C., Janssens, U., Kluge, S., Born, F., Hoffmeister, H. M., Preusch, M., Boeken, U., Riessee, R. and Thiele, H. (2018). Recommendations for extracorporeal cardiopulmonary resuscitation (eCPR). Consensus statement of DGIIN, DGK, DGTHG, DGfK, DGNI, DGAI, DIVI and GRC. Anaesthesist, 67 (8). S. 607 - 617. HEIDELBERG: SPRINGER HEIDELBERG. ISSN 1432-055X
Mobascher, A., Diaz-Lacava, A., Wagner, M., Gallinat, J., Wienker, T. F., Drichel, D., Becker, T., Steffens, M., Dahmen, N., Gruender, G., Thuerauf, N., Kiefer, F., Kornhuber, J., Toliat, M. R., Thiele, H., Nuernberg, P., Steinlein, O. and Winterer, G. (2016). Association of Common Polymorphisms in the Nicotinic Acetylcholine Receptor Alpha4 Subunit Gene with an Electrophysiological Endophenotype in a Large Population-Based Sample. PLoS One, 11 (4). SAN FRANCISCO: PUBLIC LIBRARY SCIENCE. ISSN 1932-6203
Moosa, S., Chung, B. H. -Y., Tung, J. Y. -L., Altmueller, J., Thiele, H., Nuernberg, P., Netzer, C., Nishimura, G. and Wollnik, B. (2016). Mutations in SEC24D cause autosomal recessive osteogenesis imperfecta. Clin. Genet., 89 (4). S. 517 - 520. HOBOKEN: WILEY-BLACKWELL. ISSN 1399-0004
Neidhardt, G., Hauke, J., Heilmann, S., Hellebrand, H., Surowy, H. M., Klaschik, K., Honisch, E., Gehrig, A., Sutter, C., Rump, A., Bogdanova-Markov, N., Bugert, P., Mangold, E., Steinemann, D., Ramirez, A., Ditsch, N., Arnold, N., Niederacher, D., Burwinkel, B., Thiele, H., Altmueller, I., Nuernberg, P., Engel, C., Wappenschmidt, B., Rhiem, K., Meindl, A., Schmutzler, R. K. and Hahnen, E. (2016). Compelling evidence for FANCM as a breast cancer susceptibility gene. Oncol. Res. Treat., 39. S. 54 - 55. BASEL: KARGER. ISSN 2296-5262
Peters, S., Trueck, C., Altmueller, J., Kayser, K., Mangold, E., Holzapfel, S., Adam, R., Thiele, H., Spier, I. and Aretz, S. (2018). Exome sequencing identified potential candidate genes for serrated polyposis syndrome. Eur. J. Hum. Genet., 26. S. 602 - 604. LONDON: NATURE PUBLISHING GROUP. ISSN 1476-5438
Pilarczyk, K., Bauer, A., Boening, A., von der Brelie, M., Eichler, I., Gohrbandt, B., Groesdonk, H. V., Haake, N., Heringlake, M., Langebartels, G., Marggraf, G., Markewitz, A., Thiele, H. and Trummer, G. (2015). S3-Guideline: Use of intra aortic Counterpulsation in Cardiac Surgery. Anasthesiol. Intensivmed., 56. S. 568 - 574. EBELSBACH: AKTIV DRUCK & VERLAG GMBH. ISSN 0170-5334
Ralser, D. J., Lestringant, G. G., Du-Thanh, A., Kokordelis, P., Fischer, J., Basmanav, F. B. Uenalan, Wolf, S., Thiele, H., Altmueller, J., Nuernberg, P., Oji, V., Fritz, G., Frank, J. and Betz, R. C. (2017). Functional implications of novel ADAM10 mutations in reticulate acropigmentation of Kitamura. Br. J. Dermatol., 177 (6). S. E340 - 4. HOBOKEN: WILEY. ISSN 1365-2133
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Wagener, R., Schnaudt, C., Kleinheinz, K., Ammerpohl, O., Altmueller, J., Thiele, H., Kolarova, J., Agirre, X., Nurnberg, P., Brousset, P., Klapper, W., Laurent, C., Martin-Subero, I., Propser, F., Woessmann, W., Xerri, L., Schlesner, M. and Siebert, R. (2018). Large B-cell lymphomas with ALK-rearrangement display a different genetic and epigenetic profile than diffuse large B-cell lymphoma. Br. J. Haematol., 182. S. 43 - 45. HOBOKEN: WILEY. ISSN 1365-2141
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