Publications 2016
Acuna, M., Martinez, P., Moraga, C., He, X., Moraga, M., Hunter, B., Nuernberg, P., Gutiérrez, R.A., Gonzalez, M., Schuchman, E.H., Santos, J.L., Miquel, J.F., Mabe, P., and Zanlungo, S. (2016). Epidemiological, clinical and biochemical characterization of the p.(Ala359Asp) SMPD1 variant causing Niemann-Pick disease type B. Eur J Hum Genet 24, 208-213.
Adam, R., Spier, I., Zhao, B., Kloth, M., Marquez, J., Hinrichsen, I., Kirfel, J., Tafazzoli, A., Horpaopan, S., Uhlhaas, S., Stienen, D., Friedrichs, N., Altmüller, J., Laner, A., Holzapfel, S., Peters, S., Kayser, K., Thiele, H., Holinski-Feder, E., Marra, G., Kristiansen, G., Nöthen, M.M., Büttner, R., Möslein, G., Betz, R.C., Brieger, A., Lifton, R.P., and Aretz, S. (2016). Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis. Am J Hum Genet 99, 337-351.
Altmüller, J., Motameny, S., Becker, C., Thiele, H., Chatterjee, S., Wollnik, B., and Nürnberg, P. (2016). A systematic comparison of two new releases of exome sequencing products: the aim of use determines the choice of product. Biol Chem 397, 791-801.
Ammann, S., Schulz, A., Krägeloh-Mann, I., Dieckmann, N.M., Niethammer, K., Fuchs, S., Eckl, K.M., Plank, R., Werner, R., Altmüller, J., Thiele, H., Nürnberg, P., Bank, J., Strauss, A., von Bernuth, H., Zur Stadt, U., Grieve, S., Griffiths, G.M., Lehmberg, K., Hennies, H.C., and Ehl, S. (2016). Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome. Blood 127, 997-1006.
Barmeyer, C., Erko, I., Fromm, A., Bojarski, C., Loddenkemper, C., Dames, P., Kerick, M., Siegmund, B., Fromm, M., Schweiger, M.R., and Schulzke, J.D. (2016). ENaC Dysregulation Through Activation of MEK1/2 Contributes to Impaired Na+ Absorption in Lymphocytic Colitis. Inflamm Bowel Dis 22, 539-547.
Bartram, M.P., Habbig, S., Pahmeyer, C., Höhne, M., Weber, L.T., Thiele, H., Altmüller, J., Kottoor, N., Wenzel, A., Krueger, M., Schermer, B., Benzing, T., Rinschen, M.M., and Beck, B.B. (2016). Three-layered proteomic characterization of a novel ACTN4 mutation unravels its pathogenic potential in FSGS. Hum Mol Genet 25, 1152-1164.
Basmanav, F.B.U., Cau, L., Tafazzoli, A., Mechin, M.C., Wolf, S., Romano, M.T., Valentin, F., Wiegmann, H., Huchenq, A., Kandil, R., Bartels, N.G., Kilic, A., George, S., Ralser, D.J., Bergner, S., Ferguson, D.J.P., Oprisoreanu, A.M., Wehner, M., Thiele, H., Altmuller, J., Nurenberg, P., Swan, D., Houniet, D., Buuchner, 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. (2016). Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome. Am J Hum Genet 99, 1292-1304.
Becker, K., Siegert, S., Toliat, M.R., Du, J., Casper, R., Dolmans, G.H., Werker, P.M., Tinschert, S., Franke, A., Gieger, C., Strauch, K., Nothnagel, M., Nürnberg, P., Hennies, H.C., and German Dupuytren Study, G. (2016). Meta-Analysis of Genome-Wide Association Studies and Network Analysis-Based Integration with Gene Expression Data Identify New Suggestive Loci and Unravel a Wnt-Centric Network Associated with Dupuytren's Disease. PLoS ONE 11, e0158101.
Bey, K., Lennertz, L., Markett, S., Petrovsky, N., Gallinat, J., Gründer, G., Spreckelmeyer, K.N., Wienker, T.F., Mobascher, A., Dahmen, N., Thuerauf, N., Kornhuber, J., Kiefer, F., Toliat, M.R., Nürnberg, P., Winterer, G., and Wagner, M. (2016). Replication of the association between CHRNA4 rs1044396 and harm avoidance in a large population-based sample. Eur Neuropsychopharmacol 26, 150-155.
Bögershausen, N., Altunoglu, U., Beleggia, F., Yigit, G., Kayserili, H., Nürnberg, P., Li, Y., Altmüller, J., and Wollnik, B. (2016). An unusual presentation of Kabuki syndrome with orbital cysts, microphthalmia, and cholestasis with bile duct paucity. Am J Med Genet A 170, 3282-3288.
Bögershausen, N., Gatinois, V., Riehmer, V., Kayserili, H., Becker, J., Thoenes, M., Simsek-Kiper, P., Barat-Houari, M., Elcioglu, N.H., Wieczorek, D., Tinschert, S., Sarrabay, G., Strom, T.M., Fabre, A., Baynam, G., Sanchez, E., Nürnberg, G., Altunoglu, U., Capri, Y., Isidor, B., Lacombe, D., Corsini, C., Cormier-Daire, V., Sanlaville, D., Giuliano, F., Le Quan Sang, K.H., Kayirangwa, H., Nürnberg, P., Meitinger, T., Boduroglu, K., Zoll, B., Lyonnet, S., Tzschach, A., Verloes, A., Di Donato, N., Touitou, I., Netzer, C., Li, Y., Geneviève, D., Yigit, G., and Wollnik, B. (2016). Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2. Hum Mutat 37, 847-864.
Broecker, F., Hardt, C., Herwig, R., Timmermann, B., Kerick, M., Wunderlich, A., Schweiger, M.R., Borsig, L., Heikenwalder, M., Lehrach, H., and Moelling, K. (2016). Transcriptional signature induced by a metastasis-promoting c-Src mutant in a human breast cell line. FEBS J 283, 1669-1688.
Broecker, F., Horton, R., Heinrich, J., Franz, A., Schweiger, M.R., Lehrach, H., and Moelling, K. (2016). The intron-enriched HERV-K(HML-10) family suppresses apoptosis, an indicator of malignant transformation. Mob DNA 7, 25.
Bu, H., Narisu, N., Schlick, B., Rainer, J., Manke, T., Schäfer, G., Pasqualini, L., Chines, P., Schweiger, M.R., Fuchsberger, C., and Klocker, H. (2016). Putative Prostate Cancer Risk SNP in an Androgen Receptor-Binding Site of the Melanophilin Gene Illustrates Enrichment of Risk SNPs in Androgen Receptor Target Sites. Hum Mutat 37, 52-64.
Castelo-Branco, P., Leao, R., Lipman, T., Campbell, B., Lee, D., Price, A., Zhang, C., Heidari, A., Stephens, D., Boerno, S., Coelho, H., Gomes, A., Domingos, C., Apolonio, J.D., Schäfer, G., Bristow, R.G., Schweiger, M.R., Hamilton, R., Zlotta, A., Figueiredo, A., Klocker, H., Sültmann, H., and Tabori, U. (2016). A cancer specific hypermethylation signature of the TERT promoter predicts biochemical relapse in prostate cancer: a retrospective cohort study. Oncotarget 7, 57726-57736.
Claushuis, T.A., van Vught, L.A., Scicluna, B.P., Wiewel, M.A., Klein Klouwenberg, P.M., Hoogendijk, A.J., Ong, D.S., Cremer, O.L., Horn, J., Franitza, M., Toliat, M.R., Nürnberg, P., Zwinderman, A.H., Bonten, M.J., Schultz, M.J., van der Poll, T., Molecular, D., and Risk Stratification of Sepsis, C. (2016). Thrombocytopenia is associated with a dysregulated host response in critically ill sepsis patients. Blood 127, 3062-3072.
Crispatzu, G., Schrader, A., Nothnagel, M., Herling, M., and Herling, C.D. (2016). A Critical Evaluation of Analytic Aspects of Gene Expression Profiling in Lymphoid Leukemias with Broad Applications to Cancer Genomics. Am J Med Sci 3, 248-271.
Daud, S., Kakar, N., Goebel, I., Hashmi, A.S., Yaqub, T., Nürnberg, G., Nürnberg, P., Morris-Rosendahl, D.J., Wasim, M., Volk, A.E., Kubisch, C., Ahmad, J., and Borck, G. (2016). Identification of two novel ALS2 mutations in infantile-onset ascending hereditary spastic paraplegia. Amyotroph Lateral Scler Frontotemporal Degener 17, 260-265.
Di Donato, N., Kuechler, A., Vergano, S., Heinritz, W., Bodurtha, J., Merchant, S.R., Breningstall, G., Ladda, R., Sell, S., Altmüller, J., Bögershausen, N., Timms, A.E., Hackmann, K., Schrock, E., Collins, S., Olds, C., Rump, A., and Dobyns, W.B. (2016). Update on the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome. Am J Med Genet A 170, 2644-2651.
Di Donato, N., Neuhann, T., Kahlert, A.K., Klink, B., Hackmann, K., Neuhann, I., Novotna, B., Schallner, J., Krause, C., Glass, I.A., Parnell, S.E., Benet-Pages, A., Nissen, A.M., Berger, W., Altmüller, J., Thiele, H., Weber, B.H., Schrock, E., Dobyns, W.B., Bier, A., and Rump, A. (2016). Mutations in EXOSC2 are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestalt. J Med Genet 53, 419-425.
Diegoli, T.M., Rohde, H., Borowski, S., Krawczak, M., Coble, M.D., and Nothnagel, M. (2016). Genetic mapping of 15 human X chromosomal forensic short tandem repeat (STR) loci by means of multi-core parallelization. Forensic Sci Int Genet 25, 39-44.
Du Bois, I., Marsico, A., Bertrams, W., Schweiger, M.R., Caffrey, B.E., Sittka-Stark, A., Eberhardt, M., Vera, J., Vingron, M., and Schmeck, B.T. (2016). Genome-wide Chromatin Profiling of Legionella pneumophila-Infected Human Macrophages Reveals Activation of the Probacterial Host Factor TNFAIP2. J Infect Dis 214, 454-463.
Fessler, E., Drost, J., van Hooff, S.R., Linnekamp, J.F., Wang, X., Jansen, M., De Sousa E Melo, F., Prasetyanti, P.R., Ijspeert, J.E., Franitza, M., Nürnberg, P., van Noesel, C.J., Dekker, E., Vermeulen, L., Clevers, H., and Medema, J.P. (2016). TGF? signaling directs serrated adenomas to the mesenchymal colorectal cancer subtype. EMBO Mol Med 8, 745-760.
Fessler, E., Jansen, M., De Sousa E Melo, F., Zhao, L., Prasetyanti, P.R., Rodermond, H., Kandimalla, R., Linnekamp, J.F., Franitza, M., van Hooff, S.R., de Jong, J.H., Oppeneer, S.C., van Noesel, C.J., Dekker, E., Stassi, G., Wang, X., Medema, J.P., and Vermeulen, L. (2016). A multidimensional network approach reveals microRNAs as determinants of the mesenchymal colorectal cancer subtype. Oncogene 35, 6026-6037.
Flegel, C., Vogel, F., Hofreuter, A., Wojcik, S., Schoeder, C., Kie?-Kononowicz, K., Brockmeyer, N.H., Müller, C.E., Becker, C., Altmüller, J., Hatt, H., and Gisselmann, G. (2016). Characterization of non-olfactory GPCRs in human sperm with a focus on GPR18. Sci Rep 6, 32255.
Gardella, E., Becker, F., Moller, R.S., Schubert, J., Lemke, J.R., Larsen, L.H., Eiberg, H., Nothnagel, M., Thiele, H., Altmüller, J., Syrbe, S., Merkenschlager, A., Bast, T., Steinhoff, B., Nürnberg, P., Mang, Y., Bakke Moller, L., Gellert, P., Heron, S., Dibbens, L., Weckhuysen, S., Dahl, H.A., Biskup, S., Tommerup, N., Hjalgrim, H., Lerche, H., Beniczky, S., and Weber, Y.G. (2016). Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation. Ann Neurol 79, 428-436.
Gardella, E., Beniczky, S., Moller, R.S., Becker, F., Lemke, J.R., Syrbe, S., Eiberg, H., Bast, T., Steinhoff, B., Nürnberg, P., Gellert, P., Dahl, H.A., Weckhuysen, S., Heron, S.E., Dibbens, L.M., Hjalgrim, H., Lerche, H., and Weber, Y.G. (2016). Reply. Ann Neurol 80, 168-169.
Geisel, M.H., Coassin, S., Heßler, N., Bauer, M., Eisele, L., Erbel, R., Haun, M., Hennig, F., Moskau-Hartmann, S., Hoffmann, B., Jöckel, K.H., Kedenko, L., Kiechl, S., Kollerits, B., Mahabadi, A.A., Moebus, S., Nürnberg, G., Nürnberg, P., Paulweber, B., Vens, M., Willeit, J., Willeit, K., Klockgether, T., Ziegler, A., Scherag, A., and Kronenberg, F. (2016). Update of the effect estimates for common variants associated with carotid intima media thickness within four independent samples: The Bonn IMT Family Study, the Heinz Nixdorf Recall Study, the SAPHIR Study and the Bruneck Study. Atherosclerosis 249, 83-87.
Hallmann, K., Kudin, A.P., Zsurka, G., Kornblum, C., Reimann, J., Stüve, B., Waltz, S., Hattingen, E., Thiele, H., Nürnberg, P., Rüb, C., Voos, W., Kopatz, J., Neumann, H., and Kunz, W.S. (2016). Loss of the smallest subunit of cytochrome c oxidase, COX8A, causes Leigh-like syndrome and epilepsy. Brain 139, 338-345.
Harley, M.E., Murina, O., Leitch, A., Higgs, M.R., Bicknell, L.S., Yigit, G., Blackford, A.N., Zlatanou, A., Mackenzie, K.J., Reddy, K., Halachev, M., McGlasson, S., Reijns, M.A., Fluteau, A., Martin, C.A., Sabbioneda, S., Elcioglu, N.H., Altmüller, J., Thiele, H., Greenhalgh, L., Chessa, L., Maghnie, M., Salim, M., Bober, M.B., Nürnberg, P., Jackson, S.P., Hurles, M.E., Wollnik, B., Stewart, G.S., and Jackson, A.P. (2016). TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism. Nat Genet 48, 36-43.
Harr, B., Karakoc, E., Neme, R., Teschke, M., Pfeifle, C., Pezer, Babiker, H., Linnenbrink, M., Montero, I., Scavetta, R., Abai, M.R., Molins, M.P., Schlegel, M., Ulrich, R.G., Altmüller, J., Franitza, M., Büntge, A., Künzel, S., and Tautz, D. (2016). Genomic resources for wild populations of the house mouse, Mus musculus and its close relative Mus spretus. Sci Data 3, 160075.
Hatzole, J., Beleggia, F., Herzig, H., Altmuller, J., Nurnberg, P., Bloch, W., Wollnik, B., and Hammerschmidt, M. (2016). Tumor suppression in basal keratinocytes via dual non-cell-autonomous functions of a Na,K-ATPase beta subunit. Elife 5, e14277.
Herling, C.D., Klaumünzer, M., Rocha, C.K., Altmüller, J., Thiele, H., Bahlo, J., Kluth, S., Crispatzu, G., Herling, M., Schiller, J., Engelke, A., Tausch, E., Döhner, H., Fischer, K., Goede, V., Nürnberg, P., Reinhardt, H.C., Stilgenbauer, S., Hallek, M., and Kreuzer, K.A. (2016). Complex karyotypes and KRAS and POT1 mutations impact outcome in CLL after chlorambucil-based chemotherapy or chemoimmunotherapy. Blood 128, 395-404.
Heßler, N., Geisel, M.H., Coassin, S., Erbel, R., Heilmann, S., Hennig, F., Hoffmann, B., Jöckel, K.H., Moebus, S., Moskau-Hartmann, S., Nürnberg, G., Nürnberg, P., Vens, M., Klockgether, T., Kronenberg, F., Scherag, A., and Ziegler, A. (2016). Linkage and Association Analysis Identifies TRAF1 Influencing Common Carotid Intima-Media Thickness. Stroke 47, 2904-2909.
Huson, M.A., Scicluna, B.P., van Vught, L.A., Wiewel, M.A., Hoogendijk, A.J., Cremer, O.L., Bonten, M.J., Schultz, M.J., Franitza, M., Toliat, M.R., Nürnberg, P., Grobusch, M.P., and van der Poll, T. (2016). The Impact of HIV Co-Infection on the Genomic Response to Sepsis. PLoS ONE 11, e0148955.
Ikram, F., Ackermann, S., Kahlert, Y., Volland, R., Roels, F., Engesser, A., Hertwig, F., Kocak, H., Hero, B., Dreidax, D., Henrich, K.O., Berthold, F., Nürnberg, P., Westermann, F., and Fischer, M. (2016). Transcription factor activating protein 2 beta (TFAP2B) mediates noradrenergic neuronal differentiation in neuroblastoma. Mol Oncol 10, 344-359.
Jabbari, K., and Nürnberg, P. (2016). A genomic view on epilepsy and autism candidate genes. Genomics 108, 31-36.
Kapferer-Seebacher, I., Pepin, M., Werner, R., Aitman, T.J., Nordgren, A., Stoiber, H., Thielens, N., Gaboriaud, C., Amberger, A., Schossig, A., Gruber, R., Giunta, C., Bamshad, M., Björck, E., Chen, C., Chitayat, D., Dorschner, M., Schmitt-Egenolf, M., Hale, C.J., Hanna, D., Hennies, H.C., Heiss-Kisielewsky, I., Lindstrand, A., Lundberg, P., Mitchell, A.L., Nickerson, D.A., Reinstein, E., Rohrbach, M., Romani, N., Schmuth, M., Silver, R., Taylan, F., Vandersteen, A., Vandrovcova, J., Weerakkody, R., Yang, M., Pope, F.M., Molecular Basis of Periodontal, E.D.S.C., Byers, P.H., Zschocke, J., Aleck, K., Banki, Z., Dudas, J., Dumfahrt, H., Haririan, H., Hartsfield, J.K., Kagen, C.N., Lindert, U., Meitinger, T., Posch, W., Pritz, C., Ross, D., Schroer, R.J., Wick, G., Wildin, R., and Wilflingseder, D. (2016). Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement. Am J Hum Genet 99, 1005-1014.
Karakaya, M., Heller, R., Kunde, V., Zimmer, K.P., Chao, C.M., Nürnberg, P., and Cirak, S. (2016). Novel Mutations in the Nonselective Sodium Leak Channel (NALCN) Lead to Distal Arthrogryposis with Increased Muscle Tone. Neuropediatrics 47, 273-277.
Knaus, A., Awaya, T., Helbig, I., Afawi, Z., Pendziwiat, M., Abu-Rachma, J., Thompson, M.D., Cole, D.E., Skinner, S., Annese, F., Canham, N., Schweiger, M.R., Robinson, P.N., Mundlos, S., Kinoshita, T., Munnich, A., Murakami, Y., Horn, D., and Krawitz, P.M. (2016). Rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation Syndrome. Hum Mutat 37, 737-744.
Koopmann, A., Bez, J., Lemenager, T., Hermann, D., Dinter, C., Reinhard, I., Schuster, R., Wiedemann, K., Winterer, G., and Kiefer, F. (2016). The Effect of Nicotine on HPA Axis Activity in Females is Modulated by the FKBP5 Genotype. Ann Hum Genet 80, 154-161.
Korenke, G.C., Eggert, M., Thiele, H., Nürnberg, P., Sander, T., and Steinlein, O.K. (2016). Nocturnal frontal lobe epilepsy caused by a mutation in the GATOR1 complex gene NPRL3. Epilepsia 57, e60-63.
Laghmani, K., Beck, B.B., Yang, S.S., Seaayfan, E., Wenzel, A., Reusch, B., Vitzthum, H., Priem, D., Demaretz, S., Bergmann, K., Duin, L.K., Göbel, H., Mache, C., Thiele, H., Bartram, M.P., Dombret, C., Altmüller, J., Nürnberg, P., Benzing, T., Levtchenko, E., Seyberth, H.W., Klaus, G., Yigit, G., Lin, S.H., Timmer, A., de Koning, T.J., Scherjon, S.A., Schlingmann, K.P., Bertrand, M.J., Rinschen, M.M., de Backer, O., Konrad, M., and Kömhoff, M. (2016). Polyhydramnios, Transient Antenatal Bartter's Syndrome, and MAGED2 Mutations. N Engl J Med 374, 1853-1863.
Lal, D., Neubauer, B.A., Toliat, M.R., Altmüller, J., Thiele, H., Nürnberg, P., Kamrath, C., Schänzer, A., Sander, T., Hahn, A., and Nothnagel, M. (2016). Increased Probability of Co-Occurrence of Two Rare Diseases in Consanguineous Families and Resolution of a Complex Phenotype by Next Generation Sequencing. PLoS ONE 11, e0146040.
Lal, D., Reinthaler, E.M., Dejanovic, B., May, P., Thiele, H., Lehesjoki, A.E., Schwarz, G., Riesch, E., Ikram, M.A., van Duijn, C.M., Uitterlinden, A.G., Hofman, A., Steinböck, H., Gruber-Sedlmayr, U., Neophytou, B., Zara, F., Hahn, A., Genetic Commission of the Italian League against, E., Euro, E.C.C., Gormley, P., Becker, F., Weber, Y.G., Cilio, M.R., Kunz, W.S., Krause, R., Zimprich, F., Lemke, J.R., Nürnberg, P., Sander, T., Lerche, H., Neubauer, B.A., Bianchi, A., La Neve, A., Striano, P., Minetti, C., Giuseppe, C., Palotie, A., Ruppert, A.K., Suls, A., Siren, A., Koeleman, B., Haberlandt, E., Ronen, G.M., Caglayan, H., Hjalgrim, H., Muhle, H., Schulz, H., Helbig, I., Altmüller, J., Geldner, J., Schubert, J., Jabbari, K., Everett, K., Feucht, M., Balestri, M., Nothnagel, M., Moller, R.S., Nabbout, R., Balling, R., Baulac, S., and Kunz, W. (2016). Evaluation of Presumably Disease Causing SCN1A Variants in a Cohort of Common Epilepsy Syndromes. PLoS ONE 11, e0150426.
Lemke, J.R., Geider, K., Helbig, K.L., Heyne, H.O., Schütz, H., Hentschel, J., Courage, C., Depienne, C., Nava, C., Heron, D., Moller, R.S., Hjalgrim, H., Lal, D., Neubauer, B.A., Nürnberg, P., Thiele, H., Kurlemann, G., Arnold, G.L., Bhambhani, V., Bartholdi, D., Pedurupillay, C.R., Misceo, D., Frengen, E., Stromme, P., Dlugos, D.J., Doherty, E.S., Bijlsma, E.K., Ruivenkamp, C.A., Hoffer, M.J., Goldstein, A., Rajan, D.S., Narayanan, V., Ramsey, K., Belnap, N., Schrauwen, I., Richholt, R., Koeleman, B.P., Sá, J., Mendonca, C., de Kovel, C.G., Weckhuysen, S., Hardies, K., De Jonghe, P., De Meirleir, L., Milh, M., Badens, C., Lebrun, M., Busa, T., Francannet, C., Piton, A., Riesch, E., Biskup, S., Vogt, H., Dorn, T., Helbig, I., Michaud, J.L., Laube, B., and Syrbe, S. (2016). Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy. Neurology 86, 2171-2178.
Magarin, M., Pohl, T., Lill, A., Schulz, H., Blaschke, F., Heuser, A., Thierfelder, L., Donath, S., and Drenckhahn, J.D. (2016). Embryonic cardiomyocytes can orchestrate various cell protective mechanisms to survive mitochondrial stress. J Mol Cell Cardiol 97, 1-14.
Magarin, M., Schulz, H., Thierfelder, L., and Drenckhahn, J.D. (2016). Transcriptional profiling of regenerating embryonic mouse hearts. Genom Data 9, 145-147.
Mannhardt, I., Breckwoldt, K., Letuffe-Brenière, D., Schaaf, S., Schulz, H., Neuber, C., Benzin, A., Werner, T., Eder, A., Schulze, T., Klampe, B., Christ, T., Hirt, M.N., Huebner, N., Moretti, A., Eschenhagen, T., and Hansen, A. (2016). Human Engineered Heart Tissue: Analysis of Contractile Force. Stem Cell Rep 7, 29-42.
Maßberg, D., Jovancevic, N., Offermann, A., Simon, A., Baniahmad, A., Perner, S., Pungsrinont, T., Luko, K., Philippou, S., Ubrig, B., Heiland, M., Weber, L., Altmüller, J., Becker, C., Gisselmann, G., Gelis, L., and Hatt, H. (2016). The activation of OR51E1 causes growth suppression of human prostate cancer cells. Oncotarget 7, 48231-48249.
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., 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, e0152984.
Montalbano, A., Juergensen, L., Roeth, R., Weiss, B., Fukami, M., Fricke-Otto, S., Binder, G., Ogata, T., Decker, E., Nuernberg, G., Hassel, D., and Rappold, G.A. (2016). Retinoic acid catabolizing enzyme CYP26C1 is a genetic modifier in SHOX deficiency. EMBO Mol Med 8, 1455-1469.
Moosa, S., Chung, B.H.Y., Tung, J.Y.L., Altmuller, J., Thiele, H., Nurnberg, P., Netzer, C., Nishimura, G., and Wollnik, B. (2016). Mutations in SEC24D cause autosomal recessive osteogenesis imperfecta. Clin Genet 89, 517-519.
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