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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
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
Cyganek, L., Hanses, U., Li, Y., Tiburcy, M., Barbarics, B., Yigit, G., Altmueller, J., Paul, T., Zimmermann, W. H., Hasenfuss, G. and Wollnik, B. (2018). Exploring hypertrophic cardiomyopathy in iPSC-derived cardiomyocytes from patients with a novel autosomal recessive form of Noonan syndrome. Eur. Heart J., 39. S. 1089 - 1090. OXFORD: OXFORD UNIV PRESS. ISSN 1522-9645
Goedbloed, D. J., Czypionka, T., Altmueller, J., Rodriguez, A., Kuepfer, E., Segev, O., Blaustein, L., Templeton, A. R., Nolte, A. W. and Steinfartz, S. (2017). Parallel habitat acclimatization is realized by the expression of different genes in two closely related salamander species (genus Salamandra). Heredity, 119 (6). S. 429 - 438. LONDON: NATURE PUBLISHING GROUP. ISSN 1365-2540
Harms, F. L., Nampoothiri, S., Kortuem, F., Thomas, J., Panicker, V. V., Alawi, M., Altmueller, J., Yesodharan, D. and Kutsche, K. (2018). Coinheritance of biallelic SLURP1 and SLC39A4 mutations cause a severe genodermatosis with skin peeling and hair loss all over the body. Br. J. Dermatol., 179 (5). S. 1192 - 1195. 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
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
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
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
Nieuwenhuis, M. A., Siedlinski, M., van den Berge, M., Granell, R., Li, X., Niens, M., van der Vlies, P., Altmueller, J., Nuernberg, P., Kerkhof, M., van Schayck, O. C., Riemersma, R. A., van der Molen, T., de Monchy, J. G., Bosse, Y., Sandford, A., Bruijnzeel-Koomen, C. A., Gerth van Wijk, R., ten Hacken, N. H., Timens, W., Boezen, H. M., Henderson, J., Kabesch, M., Vonk, J. M., Postma, D. S. and Koppelman, G. H. (2016). Combining genomewide association study and lung eQTL analysis provides evidence for novel genes associated with asthma. Allergy, 71 (12). S. 1712 - 1721. HOBOKEN: WILEY-BLACKWELL. ISSN 1398-9995
Oberbeck, S., Schrader, A., Warner, K., Jungherz, D., Crispatzu, G., von Jan, J., Chmielewski, M., Ianevski, A., Diebner, H. H., Mayer, P., Ados, A. Kondo, Wahnschaffe, L., Braun, T., Mueller, T. A., Wagle, P., Bouska, A., Neumann, T., Puetzer, S., Varghese, L., Pflug, N., Thelen, M., Makalowski, J., Riet, N., Goex, H. J. M., Rappl, G., Altmueller, J., Kotrova, M., Persigehl, T., Hopfinger, G., Hansmann, M. L., Schloesser, H., Stilgenbauer, S., Duerig, J., Mougiakakos, D., Von Bergwelt-Baildon, M., Roeder, I, Hartmann, S., Hallek, M., Moriggl, R., Brueggemann, M., Aittokallio, T., Iqbal, J., Newrzela, S., Abken, H. and Herling, M. (2020). Noncanonical effector functions of the T-memory-like T-PLL cell are shaped by cooperative TCL1A and TCR signaling. Blood, 136 (24). S. 2786 - 2803. WASHINGTON: AMER SOC HEMATOLOGY. ISSN 1528-0020
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
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
Rosswog, C., Bartenhagen, C., Ackermann, S., Perner, S., Vogel, W., Altmueller, J., Nuernberg, P., Hertwig, F., Gohring, G., Lilienweiss, E., Stuetz, A., Korbel, J., Thomas, R., Peifer, M. and Fischer, M. (2020). Circular Recombination Drives Massive Oncogene Amplification and Over-Expression in Human Cancer. Pediatr. Blood Cancer, 67. S. S302 - 1. HOBOKEN: WILEY. ISSN 1545-5017
Schrader, A., Crispatzu, G., Oberbeck, S., Mayer, P., Putzer, S., von Jan, J., Vasyutina, E., Warner, K., Weit, N., Pflug, N., Braun, T., Andersson, E. I., Yadav, B., Riabinska, A., Maurer, B., Ferreira, M. S. Ventura, Beier, F., Altmueller, J., Lanasa, M., Herling, C. D., Haferlach, T., Stilgenbauer, S., Hopfinger, G., Peifer, M., Bruemmendorf, T. H., Nuernberg, P., Elenitoba-Johnson, K. S. J., Zha, S., Hallek, M., Moriggl, R., Reinhardt, H. C., Stern, M. -H., Mustjoki, S., Newrzela, S., Frommolt, P. and Herling, M. (2018). Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL. Nat. Commun., 9. LONDON: NATURE PUBLISHING GROUP. ISSN 2041-1723
Siede, D., Rapti, K., Gorska, A. A., Katus, H. A., Altmueller, J., Boeckel, J. N., Meder, B., Maack, C., Voelkers, M., Mueller, O. J., Backs, J. and Dieterich, C. (2017). Identification of circular RNAs with host gene-independent expression in human model systems for cardiac differentiation and disease. J. Mol. Cell. Cardiol., 109. S. 48 - 57. OXFORD: ELSEVIER SCI LTD. ISSN 1095-8584
Thomalla, D., Beckmann, L., Grimm, C., Oliverio, M., Meder, L., Herling, C. D., Nieper, P., Feldmann, T., Merkel, O., Lorsy, E., Guerreiro, A. da Palma, von Jan, J., Kisis, I., Wasserburger, E., Claasen, J., Faitschuk-Meyer, E., Altmueller, J., Nuernberg, P., Yang, T. -P., Lienhard, M., Herwig, R., Kreuzer, K. -A., Pallasch, C. P., Buettner, R., Schaefer, S. C., Hartley, J., Abken, H., Peifer, M., Kashkar, H., Knittel, G., Eichhorst, B., Ullrich, R. T., Herling, M., Reinhardt, H. C., Hallek, M., Schweiger, M. R. and Frenzel, L. P. (2022). Deregulation and epigenetic modification of BCL2-family genes cause resistance to venetoclax in hematologic malignancies. Blood, 140 (20). S. 2113 - 2127. WASHINGTON: AMER SOC HEMATOLOGY. ISSN 1528-0020
Waffenschmidt, L., Schneider, S., Altmueller, J., Thiele, H., Weber, S., Roesch, W., Merz, W. M., Feldkotter, M., Hoppe, B., Schalk, G., Zaniew, M., Reutter, H., Schreuder, M. F., Beckers, G. M. A., van Wijk, J. A. E. and Hilger, A. C. (2020). ZSCAN12, a candidate gene for congenital lower urinary tract obstruction (LUTO). Eur. J. Hum. Genet., 28 (SUPPL 1). S. 221 - 223. LONDON: SPRINGERNATURE. ISSN 1476-5438
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