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Number of items: 35.

Journal Article

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

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

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

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

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

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

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

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

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

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

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

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

Maaser, A., Strohmaier, J., Ludwig, K. U., Degenhardt, F., Streit, F., Schenk, L. M., Koller, A. C., Fischer, S. B., Thiele, H., Nuernberg, P., Guzman-Parra, J., Orozco Diaz, G., Auburger, G., Albus, M., Borrmann-Hassenbach, M., Jose Gonzalez, M., Gil Flores, S., Cabaleiro Fabeiro, F. J., del Rio Noriega, F., Perez Perez, F., Haro Gonzalez, J., Rivas, F., Mayoral, F., Herms, S., Hoffmann, P., Cichon, S., Rietschel, M., Noethen, M. M. and Forstner, A. J. (2018). Exome sequencing of multiply affected bipolar disorder families and follow-up resequencing implicate rare variants in neuronal genes contributing to disease etiology. Eur. J. Hum. Genet., 26. S. 373 - 375. LONDON: NATURE PUBLISHING GROUP. ISSN 1476-5438

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

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

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

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

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

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

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

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

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

This list was generated on Mon Sep 27 04:40:06 2021 CEST.