Deregulation and epigenetic modification of BCL2-family genes cause resistance to venetoclax in hematologic malignancies von Thomalla, D., Beckmann, L., Grimm, C., Oliverio, M., Meder, L., Herling, C.D., Nieper, P., Feldmann, T., Merkel, O., Lorsy, E., da Palma Guerreiro, A., von Jan, J., Kisis, I., Wasserburger, E., Claasen, J., Faitschuk-Meyer, E., Altmüller, J., Nürnberg, P., Yang, T.-P., Lienhard, M., Herwig, R., Kreuzer, K.-A., Pallasch, C.P., Büttner, R., Schäfer, 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., Frenzel, L.P.

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Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL von Schrader, A., Crispatzu, G., Oberbeck, S., Mayer, P., Pützer, S., von Jan, J., Vasyutina, E., Warner, K., Weit, N., Pflug, N., Braun, T., Andersson, E. I., Yadav, B., Riabinska, A., Maurer, B., Ventura Ferreira, M. S., Beier, F., Altmüller, J., Lanasa, M., Herling, C. D., Haferlach, T., Stilgenbauer, S., Hopfinger, G., Peifer, M., Brümmendorf, T. H., Nürnberg, P., Elenitoba-Johnson, K. S. J., Zha, S., Hallek, M., Moriggl, R., Reinhardt, H. C., Stern, M.-H., Mustjoki, S., Newrzela, S., Frommolt, P., Herling, M.

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Complete characterization of the edited transcriptome of the mitochondrion of Physarum polycephalum using deep sequencing of RNA von Bundschuh, R., Altmüller, J., Becker, C., Nürnberg, P., Gott, J. M.

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Recessive missense mutations in LAMB2 expand the clinical spectrum of LAMB2-associated disorders von Hasselbacher, K., Wiggins, R.C., Matejas, V., Hinkes, B.G., Mucha, B., Hoskins, B.E., Ozaltin, F., Nürnberg, G., Becker, C., Hangan, D., Pohl, M., Kuwertz-Bröking, E., Griebel, M., Schumacher, V., Royer-Pokora, B., Bakkaloglu, A., Nürnberg, P., Zenker, M., Hildebrandt, F.

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Mutations in the Gene Encoding the Wnt-Signaling Component R-Spondin 4 (RSPO4) Cause Autosomal Recessive Anonychia von Bergmann, C., Senderek, J., Anhuf, D., Thiel, C.T., Ekici, A.B., Poblete-Gutiérrez, P., van Steensel, M., Seelow, D., Nürnberg, G., Schild, H.H., Nürnberg, P., Reis, A., Frank, J., Zerres, K.

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Personalized risk prediction of postoperative cognitive impairment – rationale for the EU-funded BioCog project von Winterer, G., Androsova, G., Bender, O., Boraschi, D., Borchers, F., Dschietzig, T.B., Feinkohl, I., Fletcher, P., Gallinat, J., Hadzidiakos, D., Haynes, J.D., Heppner, F., Hetzer, S., Hendrikse, J., Ittermann, B., Kant, I.M.J., Kraft, A., Krannich, A., Krause, R., Kühn, S., Lachmann, G., van Montfort, S.J.T., Müller, A., Nürnberg, P., Ofosu, K., Pietsch, M., Pischon, T., Preller, J., Renzulli, E., Scheurer, K., Schneider, R., Slooter, A.J.C., Spies, C., Stamatakis, E., Volk, H.D., Weber, S., Wolf, A., Yürek, F., Zacharias, N.

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GLUT1 mutations are a rare cause of familial idiopathic generalized epilepsy von STRIANO, P, WEBER, Y. G, POLVI, A, ROBBIANO, A, SERRATOSA, J. M, GUERRINI, R, NÜRNBERG, P, SANDER, T, ZARA, F, LERCHE, H, MARINI, C, TOLIAT, M. R, SCHUBERT, J, LEU, C, CHAIMANA, R, BAULAC, S, GUERRERO, R, LEGUERN, E, LEHESJOKI, A.-E

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Whole blood gene expression profiling distinguishes systemic sclerosis‐overlap syndromes from other subsets von Moinzadeh, P., Frommolt, P., Franitza, M., Toliat, M. R., Becker, K., Nürnberg, P., Nihtyanova, S. I., Ahrazoglu, M., Belz, D., Hunzelmann, N., Abraham, D., Ong, V. H., Mouthon, L., Hesselstrand, R., Denton, C. P., Krieg, T.

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Association of Common Polymorphisms in the Nicotinic Acetylcholine Receptor Alpha4 Subunit Gene with an Electrophysiological Endophenotype in a Large Population-Based Sample von Mobascher, A, Diaz-Lacava, A, Wagner, M, Gallinat, J, Wienker, T F, Drichel, D, Becker, T, Steffens, M, Dahmen, N, Gründer, G, Thürauf, N, Kiefer, F, Kornhuber, J, Toliat, M R, Thiele, H, Nürnberg, P, Steinlein, O, Winterer, G

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CKAP2L mutation confirms the diagnosis of Filippi syndrome von Capecchi, G., Baldassarri, M., Ferranti, S., Guidoni, E., Cioni, M., Nürnberg, P., Mencarelli, M.A., Renieri, A., Grosso, S.

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Congenital disorder of glycosylation type Ij (CDG-Ij, DPAGT1-CDG): Extending the clinical and molecular spectrum of a rare disease von Würde, A.E., Reunert, J., Rust, S., Hertzberg, C., Haverkämper, S., Nürnberg, G., Nürnberg, P., Lehle, L., Rossi, R., Marquardt, T.

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WES revealed a de-novo missense mutation in the NALCN gene in a Freeman–Sheldon-(DA2A) like syndrome with CNS involvement von Karakaya, M, Kunde, V, Heller, R, Nürnberg, P, Cirak, S

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Genetic heterogeneity in Pakistani microcephaly families von Sajid Hussain, M, Marriam Bakhtiar, S, Farooq, M, Anjum, I, Janzen, E, Reza Toliat, M, Eiberg, H, Kjaer, KW, Tommerup, N, Noegel, AA, Nürnberg, P, Baig, SM, Hansen, L

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Clinical and genetic findings in a family with NMNAT1-associated Leber congenital amaurosis: case report and review of the literature von Hedergott, A., Volk, A. E., Herkenrath, P., Thiele, H., Fricke, J., Altmüller, J., Nürnberg, P., Kubisch, C., Neugebauer, A.

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HaploPainter: a tool for drawing pedigrees with complex haplotypes von Thiele, Holger, Nürnberg, Peter

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The Polymorphisms Asn130Asp and Val174Ala in OATP1B1 and the CYP2C9 Allele 3 Independently Affect Torsemide Pharmacokinetics and Pharmacodynamics von Vormfelde, SV, Toliat, MR, Schirmer, M, Meineke, I, Nürnberg, P, Brockmöller, J

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Identification of germline susceptibility loci in ETV6-RUNX1-rearranged childhood acute lymphoblastic leukemia von Ellinghaus, E, Stanulla, M, Richter, G, Ellinghaus, D, te Kronnie, G, Cario, G, Cazzaniga, G, Horstmann, M, Panzer Grümayer, R, Cavé, H, Trka, J, Cinek, O, Teigler-Schlegel, A, ElSharawy, A, Häsler, R, Nebel, A, Meissner, B, Bartram, T, Lescai, F, Franceschi, C, Giordan, M, Nürnberg, P, Heinzow, B, Zimmermann, M, Schreiber, S, Schrappe, M, Franke, A

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Genetic heterogeneity in Pakistani microcephaly families revisited von Ahmad, I., Baig, S. M., Abdulkareem, A. R., Hussain, M. S., Sur, I., Toliat, M. R., Nürnberg, 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., Altmüller, J., Noegel, A. A., Nürnberg, P.

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Solar FTIR measurements of NOx vertical distributions – Part 1: First observational evidence of a seasonal variation in the diurnal increasing rates of stratospheric NO2 and NO von Nürnberg, Pinchas, Rettinger, Markus, Sussmann, Ralf

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V42. De novo mutations in the FUS gene are a frequent cause of sporadic ALS in very young patients von Hübers, A, Volk, A, Just, W, Rosenbohm, A, Bierbaumer, N, Kathrin, M, Nicolai, M, Ingrid, G, Josef, H, Janine, A, Holger, T, Nürnberg, P, Weishaupt, J.H, Kubisch, C, Ludolph, A.C

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