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2022
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
2020
Asif, M., Kaygusuz, E., Shinawi, M., Nickelsen, A., Hochscherf, J., Lindenblatt, D., Noegel, A. A., Tinschert, S., Niefind, K., Fortugno, P., Jose, J., Brancati, F., Nuernberg, P. and Hussain, M. S. (2020). De novo pathogenic variants in CSNK2B cause a new intellectual disability-craniodigital syndrome distinguished from Poirier-Bienvenu neurodevelopmental syndrome. Eur. J. Hum. Genet., 28 (SUPPL 1). S. 129 - 131. LONDON: SPRINGERNATURE. ISSN 1476-5438
Iqbal, M., Baig, S. M., Abdullah, U., Makhdoom, E. U. H., Ali, Z., Khan, S., Jameel, M., Noegel, A. A., Nuernberg, P., Osmond, M. and Hussain, M. S. (2020). Mutations of PCDHGC4 encoding protocadherin gamma-C4 cause primary microcephaly and intellectual disability. Eur. J. Hum. Genet., 28 (SUPPL 1). S. 399 - 401. LONDON: SPRINGERNATURE. ISSN 1476-5438
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
Moinzadeh, P., Frommolt, P., Franitza, M., Toliat, M. R., Becker, K., Nuernberg, P., Nihtyanova, S. I., Ahrazoglu, M., Belz, D., Hunzelmann, N., Abraham, D., Ong, V. H., Mouthon, L., Hesselstrand, R., Denton, C. P. and Krieg, T. (2020). Whole blood gene expression profiling distinguishes systemic sclerosis-overlap syndromes from other subsets. J. Eur. Acad. Dermatol. Venereol., 34 (5). S. E236 - 3. HOBOKEN: WILEY. ISSN 1468-3083
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
2019
Alcala, N., Leblay, N., Gabriel, A. A. G., Mangiante, L., Hervas, D., Giffon, T., Sertier, A. S., Ferrari, A., Derks, J., Ghantous, A., Delhomme, T. M., Chabrier, A., Cuenin, C., Abedi-Ardekani, B., Boland, A., Olaso, R., Meyer, V, Altmuller, J., Le Calvez-Kelm, F., Durand, G., Voegele, C., Boyault, S., Moonen, L., Lemaitre, N., Lorimier, P., Toffart, A. C., Soltermann, A., Clement, J. H., Saenger, J., Field, J. K., Brevet, M., Blanc-Fournier, C., Galateau-Salle, F., Le Stang, N., Russell, P. A., Wright, G., Sozzi, G., Pastorino, U., Lacomme, S., Vignaud, J. M., Hofman, V, Hofman, P., Brustugun, O. T., Lund-Iversen, M., de Montpreville, V. Thomas, Muscarella, L. A., Graziano, P., Popper, H., Stojsic, J., Deleuze, J. F., Herceg, Z., Viari, A., Nuernberg, P., Pelosi, G., Dingemans, A. M. C., Milione, M., Roz, L., Brcic, L., Volante, M., Papotti, M. G., Caux, C., Sandoval, J., Hernandez-Vargas, H., Brambilla, E., Speel, E. J. M., Girard, N., Lantuejoul, S., McKay, J. D., Foll, M. and Fernandez-Cuesta, L. (2019). Integrative and comparative genomic analyses identify clinically relevant pulmonary carcinoid groups and unveil the supra-carcinoids. Nat. Commun., 10. LONDON: NATURE PUBLISHING GROUP. ISSN 2041-1723
2018
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
Capecchi, G., Baldassarri, M., Ferranti, S., Guidoni, E., Cioni, M., Nuernberg, P., Mencarelli, M. A., Renieri, A. and Grosso, S. (2018). CKAP2L mutation confirms the diagnosis of Filippi syndrome. Clin. Genet., 93 (5). S. 1109 - 1111. HOBOKEN: WILEY. ISSN 1399-0004
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
Khan, A. O., Budde, B. S., Nuernberg, P., Kawalia, A., Lenzner, S. and Bolz, H. J. (2018). Genome-wide linkage and sequence analysis challenge CCDC66 as a human retinal dystrophy candidate gene and support a distinct NMNAT1-related fundus phenotype. Clin. Genet., 93 (1). S. 149 - 155. HOBOKEN: WILEY. ISSN 1399-0004
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
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
Schneider, S., Riessland, M., Kaczmarek, A., Swoboda, K. J., Loehr, H., Bradler, C., Grysko, V., Dimitriadi, M., Hosseinibarkooie, S., Torres-Benito, L., Peters, M., Upadhyay, A., Biglari, N., Kroeber, S., Hoelker, I., Garbes, L., Gilissen, C., Hoischen, A., Nuernberg, G., Nuernberg, P., Walter, M., Rigo, F., Bennett, C. F., Kye, M. J., Hart, A. C., Hammerschmidt, M., Kloppenburg, P. and Wirth, B. (2018). Neurocalcin delta as a novel protective modifier for spinal muscular atrophy: A full story from gene identification to therapy. Eur. J. Hum. Genet., 26. S. 55 - 57. LONDON: NATURE PUBLISHING GROUP. ISSN 1476-5438
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
Schwarm, C., Koenig, I., Gola, D., Holtsche, M. M., Dieterich, A., Hirose, M., Kuenstner, A., Freitag, M., Bhandari, A., Busch, H., Nuernberg, P., Erdmann, J., Jacobs, G., Sadik, C., Zillikens, D., Schmidt, E. and Ibrahim, S. (2018). Identification of the HLA locus and mitochondrial variants as genetic risk factors for Bullous Pemphigoid. Exp. Dermatol., 27 (3). S. E42 - 1. HOBOKEN: WILEY. ISSN 1600-0625
2017
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
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
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
Neupert, L. -M., May, P., Kobow, K., Nothnagel, M. ORCID: 0000-0001-8305-7114, Nuernberg, P., Freiman, T., Harter, P., Klein, K. M., Weber, Y., Bluemcke, I. and Lal, D. (2017). DISCOVERY AND PATHOGENICITY ASSESSMENT OF NEUROPATHOLOGY-ASSOCIATED GENE VARIANTS. Epilepsia, 58. S. S174 - 1. HOBOKEN: WILEY. ISSN 1528-1167
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
2016
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
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
Moinzadeh, P., Frommolt, P., Franitza, M., Toliat, M. R., Becker, K., Nuernberg, P., Nihtyanova, S. I., Ahrazoglu, M., Belz, D., Hunzelmann, N., Abraham, D., Ong, V. H., Mouthon, L., Hesselstrand, R., Denton, C. P. and Krieg, T. (2016). Identification of an expression-based set of genes to predict the subset of patients with systemic scleroderma (SSc). Exp. Dermatol., 25. S. 10 - 11. HOBOKEN: WILEY-BLACKWELL. ISSN 1600-0625
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
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
2015
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
Karakaya, M., Kunde, V., Heller, R., Nuernberg, P. and Cirak, S. (2015). WES revealed a de-novo missense mutation in the NALCN gene in a Freeman-Sheldon-(DA2A) like syndrome with CNS involvement. Neuromusc. Disord., 25. S. S277 - 1. OXFORD: PERGAMON-ELSEVIER SCIENCE LTD. ISSN 1873-2364
Siekierska, A., Schubert, J., Langlois, M., May, P., Huneau, C., Becker, F., Muhle, H., Suls, A., Lemke, J. R., De Kovel, C. G. F., Thiele, H., Kecskes, A., Jacmin, M., Koeleman, B., Martin, B., de Witte, P. A. M., Biskup, S., De Jonghe, P., Helbig, I., Balling, R., Nuernberg, P., Crawford, A. D., Weber, Y. G., Lerche, H. and Esguerra, C. V. (2015). MODELING OF FEVER-ASSOCIATED EPILEPSY SYNDROMES CAUSED BY MUTATIONS IN STX1B IN ZEBRAFISH. Epilepsia, 56. S. 220 - 221. HOBOKEN: WILEY-BLACKWELL. ISSN 1528-1167
Siekierska, A., Schubert, J., Langlois, M., May, P., Huneau, C., Becker, F., Muhle, H., Suls, A., Lemke, J. R., De Kovel, C. G. F., Thiele, H., Kecskes, A., Jacmin, M., Koeleman, B., Martin, B., de Witte, P. A. M., Biskup, S., De Jonghe, P., Helbig, I., Balling, R., Nuernberg, P., Crawford, A. D., Weber, Y. G., Lerche, H. and Esguerra, C. V. (2015). MODELING OF FEVER-ASSOCIATED EPILEPSY SYNDROMES CAUSED BY MUTATIONS IN STX1B IN ZEBRAFISH. Epilepsia, 56. S. 220 - 221. HOBOKEN: WILEY-BLACKWELL. ISSN 1528-1167
2014
Ikram, F., Ackermann, S., Roels, E., Volland, R., Hero, B., Hertwig, F., Kocak, H., Dreidax, D., Henrich, K. O., Berthold, F., Nuernberg, P., Westermann, F. and Fischer, M. (2014). Transcription factor activating protein 2 beta (TFAP2B) mediates neuronal differentiation in neuroblastoma. Eur. J. Cancer, 50. S. 130 - 132. OXFORD: ELSEVIER SCI LTD. ISSN 1879-0852
Szczepanski, S., Hussain, M., Baig, S., Nuernberg, P. and Noegel, A. (2014). Characterization of a novel splice site mutation in CASC5 identified in a large Pakistani primary microcephaly family. Mol. Biol. Cell, 25. BETHESDA: AMER SOC CELL BIOLOGY. ISSN 1939-4586
2012
Gortner, L., Ahnert, P., Goepel, W. and Nuernberg, P. (2012). Genomic risk factors for bronchopulmonary dysplasia (BPD) in preterm neonates. Klinische Padiatr., 224 (7). S. 478 - 479. STUTTGART: GEORG THIEME VERLAG KG. ISSN 0300-8630