Publications 2014
Aksoy, I., Giudice, V., Delahaye, E., Wianny, F., Aubry, M., Mure, M., Chen, J., Jauch, R., Bogu, G.K., Nolden, T., Himmelbauer, H., Xavier Doss, M., Sachinidis, A., Schulz, H., Hummel, O., Martinelli, P., Hübner, N., Stanton, L.W., Real, F.X., Bourillot, P.Y., and Savatier, P. (2014). Klf4 and Klf5 differentially inhibit mesoderm and endoderm differentiation in embryonic stem cells. Nat Commun 5, 3719.
Alnasif, N., Zoschke, C., Fleige, E., Brodwolf, R., Boreham, A., Rühl, E., Eckl, K.M., Merk, H.F., Hennies, H.C., Alexiev, U., Haag, R., Küchler, S., and Schäfer-Korting, M. (2014). Penetration of normal, damaged and diseased skin--an in vitro study on dendritic core-multishell nanotransporters. J Control Release 185, 45-50.
Altmüller, J., Budde, B.S., and Nürnberg, P. (2014). Enrichment of target sequences for next-generation sequencing applications in research and diagnostics. Biol Chem 395, 231-237.
Anney, R.J.L., Avbersek, A., Balding, D., Baum, L., Becker, F., Berkovic, S.F., Bradfield, J.P., Brody, L.C., Buono, R.J., Catarino, C.B., Cavalleri, G.L., Cherny, S.S., Chinthapalli, K., Coffey, A.J., Compston, A., Cossette, P., de Haan, G.J., De Jonghe, P., de Kovel, C.G.F., Delanty, N., Depondt, C., Dlugos, D.J., Doherty, C.P., Elger, C.E., Ferraro, T.N., Feucht, M., Franke, A., French, J., Gaus, V., Goldstein, D.B., Gui, H.S., Guo, Y.L., Hakonarson, H., Hallmann, K., Heinzen, E.L., Helbig, I., Hjalgrim, H., Jackson, M., Jamnadas-Khoda, J., Janz, D., Johnson, M.R., Kalviainen, R., Kantanen, A.M., Kasperaviciute, D., Trenite, D.K.N., Koeleman, B.P.C., Kunz, W.S., Kwan, P., Lau, Y.L., Lehesjoki, A.E., Lerche, H., Leu, C., Lieb, W., Lindhout, D., Lo, W., Lowenstein, D.H., Malovini, A., Marson, A.G., McCormack, M., Mills, J.L., Moerzinger, M., Moller, R.S., Molloy, A.M., Muhle, H., Newton, M., Ng, P.W., Nothen, M.M., Nurnberg, P., Obrien, T.J., Oliver, K.L., Palotie, A., Pangilinan, F., Pernhorst, K., Petrovski, S., Privitera, M., Radtke, R., Reif, P.S., Rosenow, F., Ruppert, A.K., Sander, T., Scattergood, T., Schachter, S., Schankin, C., Scheffer, I.E., Schmitz, B., Schoch, S., Sham, P.C., Sisodiya, S., Smith, D.F., Smith, P.E., Speed, D., Sperling, M.R., Steffens, M., Stephani, U., Striano, P., Stroink, H., Surges, R., Tan, K.M., Thomas, G.N., Todaro, M., Tostevin, A., Tozzi, R., Trucks, H., Visscher, F., von Spiczak, S., Walley, N.M., Weber, Y.G., Wei, Z., Whelan, C., Yang, W.L., Zara, F., Zimprich, F., Int League Epilepsy Consortium, C., and Grp, K.S. (2014). Genetic determinants of common epilepsies: a meta-analysis of genome-wide association studies. Lancet Neurol 13, 893-903.
Assereto, S., Robbiano, A., Di Rocco, M., Rossi, A., Cassandrini, D., Panicucci, C., Brigati, G., Biancheri, R., Bruno, C., Minetti, C., Trucks, H., Sander, T., Zara, F., and Gazzerro, E. (2014). Functional characterization of the c.462delA mutation in the NDUFS4 subunit gene of mitochondrial complex I. Clin Genet 86, 99-101.
Barbaresko, J., Siegert, S., Koch, M., Aits, I., Lieb, W., Nikolaus, S., Laudes, M., Jacobs, G., and Nöthlings, U. (2014). Comparison of two exploratory dietary patterns in association with the metabolic syndrome in a Northern German population. Br J Nutr 112, 1364-1372.
Basmanav, B., Oprisoreanu, A., Fritz, G., Wenzel, J., Lestringant, G., Thiele, H., Hanneken, S., Bygum, A., and Betz, R. (2014). Mutations in POGLUT1 and POFUT1 cause Dowling-Degos disease and elucidate a gene-phenotype correlation. J Invest Dermatol 134 2, S53-S53.
Basmanav, F.B., Oprisoreanu, A.M., Pasternack, S.M., Thiele, H., Fritz, G., Wenzel, J., Größer, L., Wehner, M., Wolf, S., Fagerberg, C., Bygum, A., Altmüller, J., Rütten, A., Parmentier, L., El Shabrawi-Caelen, L., Hafner, C., Nürnberg, P., Kruse, R., Schoch, S., Hanneken, S., and Betz, R.C. (2014). Mutations in POGLUT1, encoding protein O-glucosyltransferase 1, cause autosomal-dominant Dowling-Degos disease. Am J Hum Genet 94, 135-143.
Beck, B.B., Phillips, J.B., Bartram, M.P., Wegner, J., Thoenes, M., Pannes, A., Sampson, J., Heller, R., Göbel, H., Koerber, F., Neugebauer, A., Hedergott, A., Nürnberg, G., Nürnberg, P., Thiele, H., Altmüller, J., Toliat, M.R., Staubach, S., Boycott, K.M., Valente, E.M., Janecke, A.R., Eisenberger, T., Bergmann, C., Tebbe, L., Wang, Y., Wu, Y., Fry, A.M., Westerfield, M., Wolfrum, U., and Bolz, H.J. (2014). Mutation of POC1B in a severe syndromic retinal ciliopathy. Hum Mutat 35, 1153-1162.
Borck, G., de Vries, L., Wu, H.J., Smirin-Yosef, P., Nürnberg, G., Lagovsky, I., Ishida, L.H., Thierry, P., Wieczorek, D., Nürnberg, P., Foley, J., Kubisch, C., and Basel-Vanagaite, L. (2014). Homozygous truncating PTPRF mutation causes athelia. Hum Genet 133, 1041-1047.
Börsch-Haubold, A.G., Montero, I., Konrad, K., and Haubold, B. (2014). Genome-wide quantitative analysis of histone H3 lysine 4 trimethylation in wild house mouse liver: environmental change causes epigenetic plasticity. PLoS ONE 9, e97568.
Breitenkamp, A.F., Matthes, J., Nass, R.D., Sinzig, J., Lehmkuhl, G., Nürnberg, P., and Herzig, S. (2014). Rare mutations of CACNB2 found in autism spectrum disease-affected families alter calcium channel function. PLoS ONE 9, e95579.
Chalhoub, B., Denoeud, F., Liu, S., Parkin, I.A., Tang, H., Wang, X., Chiquet, J., Belcram, H., Tong, C., Samans, B., Corréa, M., Da Silva, C., Just, J., Falentin, C., Koh, C.S., Le Clainche, I., Bernard, M., Bento, P., Noel, B., Labadie, K., Alberti, A., Charles, M., Arnaud, D., Guo, H., Daviaud, C., Alamery, S., Jabbari, K., Zhao, M., Edger, P.P., Chelaifa, H., Tack, D., Lassalle, G., Mestiri, I., Schnel, N., Le Paslier, M.C., Fan, G., Renault, V., Bayer, P.E., Golicz, A.A., Manoli, S., Lee, T.H., Thi, V.H., Chalabi, S., Hu, Q., Fan, C., Tollenaere, R., Lu, Y., Battail, C., Shen, J., Sidebottom, C.H., Canaguier, A., Chauveau, A., Bérard, A., Deniot, G., Guan, M., Liu, Z., Sun, F., Lim, Y.P., Lyons, E., Town, C.D., Bancroft, I., Meng, J., Ma, J., Pires, J.C., King, G.J., Brunel, D., Delourme, R., Renard, M., Aury, J.M., Adams, K.L., Batley, J., Snowdon, R.J., Tost, J., Edwards, D., Zhou, Y., Hua, W., Sharpe, A.G., Paterson, A.H., Guan, C., and Wincker, P. (2014). Plant genetics. Early allopolyploid evolution in the post-Neolithic Brassica napus oilseed genome. Science 345, 950-953.
Cunha, D.L., Eckl, K.M., Rauch, M., Casper, R., Gupta, M., Nurnberg, P., Schmuth, M., Zschocke, J., Saric, T., and Hennies, H.C. (2014). Generation and characterization of induced Pluripotent Stem (iPS) cells from Autosomal Recessive Congenital Ichthyosis patients - a new model system to study rare keratinization disorders. J Invest Dermatol 134, S34-S34.
Dejanovic, B., Lal, D., Catarino, C.B., Arjune, S., Belaidi, A.A., Trucks, H., Vollmar, C., Surges, R., Kunz, W.S., Motameny, S., Altmüller, J., Köhler, A., Neubauer, B.A., Epicure, C., Nürnberg, P., Noachtar, S., Schwarz, G., and Sander, T. (2014). Exonic microdeletions of the gephyrin gene impair GABAergic synaptic inhibition in patients with idiopathic generalized epilepsy. Neurobiol Dis 67, 88-96.
Doss, S., Lohmann, K., Seibler, P., Arns, B., Klopstock, T., Zühlke, C., Freimann, K., Winkler, S., Lohnau, T., Drungowski, M., Nürnberg, P., Wiegers, K., Lohmann, E., Naz, S., Kasten, M., Bohner, G., Ramirez, A., Endres, M., and Klein, C. (2014). Recessive dystonia-ataxia syndrome in a Turkish family caused by a COX20 (FAM36A) mutation. J Neurol 261, 207-212.
Eckl, K.M., Weindl, G., Ackermann, K., Küchler, S., Casper, R., Radowski, M.R., Haag, R., Hennies, H.C., and Schäfer-Korting, M. (2014). Increased cutaneous absorption reflects impaired barrier function of reconstructed skin models mimicking keratinisation disorders. Exp Dermatol 23, 286-288.
Egbert, M.R., Fischer, J., Schlipf, N.A., Hennies, H.C., Hausser-Siller, I., Traupe, H., and Oji, V. (2014). Vitamin D status in different forms of ichthyosis in Germany: differences depending on the severity of hyperkeratosis and/or erythema and high prevalence of 25OHD deficiency and hyperparathyreoidism. J Dtsch Dermatol Ges 12 2, 4-5.
Ehmke, N., Caliebe, A., Koenig, R., Kant, S.G., Stark, Z., Cormier-Daire, V., Wieczorek, D., Gillessen-Kaesbach, G., Hoff, K., Kawalia, A., Thiele, H., Altmüller, J., Fischer-Zirnsak, B., Knaus, A., Zhu, N., Heinrich, V., Huber, C., Harabula, I., Spielmann, M., Horn, D., Kornak, U., Hecht, J., Krawitz, P.M., Nürnberg, P., Siebert, R., Manzke, H., and Mundlos, S. (2014). Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome. Am J Hum Genet 95, 763-770.
Elsayed, S.M., Heller, R., Thoenes, M., Zaki, M.S., Swan, D., Elsobky, E., Zühlke, C., Ebermann, I., Nürnberg, G., Nürnberg, P., and Bolz, H.J. (2014). Autosomal dominant SCA5 and autosomal recessive infantile SCA are allelic conditions resulting from SPTBN2 mutations. Eur J Hum Genet 22, 286-288.
Fernandez-Cuesta, L., Peifer, M., Lu, X., Sun, R., Ozreti, L., Seidel, D., Zander, T., Leenders, F., George, J., Müller, C., Dahmen, I., Pinther, B., Bosco, G., Konrad, K., Altmüller, J., Nürnberg, P., Achter, V., Lang, U., Schneider, P.M., Bogus, M., Soltermann, A., Brustugun, O.T., Helland, Å., Solberg, S., Lund-Iversen, M., Ansén, S., Stoelben, E., Wright, G.M., Russell, P., Wainer, Z., Solomon, B., Field, J.K., Hyde, R., Davies, M.P., Heukamp, L.C., Petersen, I., Perner, S., Lovly, C.M., Cappuzzo, F., Travis, W.D., Wolf, J., Vingron, M., Brambilla, E., Haas, S.A., Buettner, R., and Thomas, R.K. (2014). Frequent mutations in chromatin-remodelling genes in pulmonary carcinoids. Nat Commun 5, 3518.
Fernandez-Cuesta, L., Plenker, D., Osada, H., Sun, R., Menon, R., Leenders, F., Ortiz-Cuaran, S., Peifer, M., Bos, M., Daßler, J., Malchers, F., Schöttle, J., Vogel, W., Dahmen, I., Koker, M., Ullrich, R.T., Wright, G.M., Russell, P.A., Wainer, Z., Solomon, B., Brambilla, E., Nagy-Mignotte, H., Moro-Sibilot, D., Brambilla, C.G., Lantuejoul, S., Altmüller, J., Becker, C., Nürnberg, P., Heuckmann, J.M., Stoelben, E., Petersen, I., Clement, J.H., Sänger, J., Muscarella, L.A., la Torre, A., Fazio, V.M., Lahortiga, I., Perera, T., Ogata, S., Parade, M., Brehmer, D., Vingron, M., Heukamp, L.C., Buettner, R., Zander, T., Wolf, J., Perner, S., Ansén, S., Haas, S.A., Yatabe, Y., and Thomas, R.K. (2014). CD74-NRG1 Fusions in Lung Adenocarcinoma. Cancer Discov 4, 415-422.
Gao, J., Schatton, D., Martinelli, P., Hansen, H., Pla-Martin, D., Barth, E., Becker, C., Altmueller, J., Frommolt, P., Sardiello, M., and Rugarli, E.I. (2014). CLUH regulates mitochondrial biogenesis by binding mRNAs of nuclear-encoded mitochondrial proteins. J Cell Biol 207, 213-223.
Gee, H.Y., Otto, E.A., Hurd, T.W., Ashraf, S., Chaki, M., Cluckey, A., Vega-Warner, V., Saisawat, P., Diaz, K.A., Fang, H., Kohl, S., Allen, S.J., Airik, R., Zhou, W., Ramaswami, G., Janssen, S., Fu, C., Innis, J.L., Weber, S., Vester, U., Davis, E.E., Katsanis, N., Fathy, H.M., Jeck, N., Klaus, G., Nayir, A., Rahim, K.A., Al Attrach, I., Al Hassoun, I., Ozturk, S., Drozdz, D., Helmchen, U., O'Toole, J.F., Attanasio, M., Lewis, R.A., Nürnberg, G., Nürnberg, P., Washburn, J., MacDonald, J., Innis, J.W., Levy, S., and Hildebrandt, F. (2014). Whole-exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathies. Kidney Int 85, 880-887.
Gruber, R., Bornchen, C., Rose, K., Peters, E.M., Daubmann, A., Danso, M., Bouwstra, J.A., Hennies, H.C., Schmuth, M., and Brandner, J.M. (2014). Central role of Claudin-1 in lesional but not in non-lesional atopic dermatitis. J Invest Dermatol 134 2, S44-S44.
Haghighi, A., Tiwari, A., Piri, N., Nürnberg, G., Saleh-Gohari, N., Neidhardt, J., Nürnberg, P., and Berger, W. (2014). Homozygosity mapping and whole exome sequencing reveal a novel homozygous COL18A1 mutation causing Knobloch syndrome. PLoS ONE 9, e112747.
Hallmann, K., Zsurka, G., Moskau-Hartmann, S., Kirschner, J., Korinthenberg, R., Ruppert, A.K., Ozdemir, O., Weber, Y., Becker, F., Lerche, H., Elger, C.E., Thiele, H., Nürnberg, P., Sander, T., and Kunz, W.S. (2014). A homozygous splice-site mutation in CARS2 is associated with progressive myoclonic epilepsy. Neurology 83, 2183-2187.
Hofmann, S., Kraus, S., Dorge, T., Nothnagel, M., Fritzsche, P., and Miehe, G. (2014). Effects of Pleistocene climatic fluctuations on the phylogeography, demography and population structure of a high-elevation snake species, Thermophis baileyi, on the Tibetan Plateau. J Biogeogr 41, 2162-2172.
Hussain, M.S., Battaglia, A., Szczepanski, S., Kaygusuz, E., Toliat, M.R., Sakakibara, S., Altmüller, J., Thiele, H., Nürnberg, G., Moosa, S., Yigit, G., Beleggia, F., Tinschert, S., Clayton-Smith, J., Vasudevan, P., Urquhart, J.E., Donnai, D., Fryer, A., Percin, F., Brancati, F., Dobbie, A., Smigiel, R., Gillessen-Kaesbach, G., Wollnik, B., Noegel, A.A., Newman, W.G., and Nürnberg, P. (2014). Mutations in CKAP2L, the human homolog of the mouse Radmis gene, cause Filippi syndrome. Am J Hum Genet 95, 622-632.
Hussong, M., Börno, S.T., Kerick, M., Wunderlich, A., Franz, A., Sültmann, H., Timmermann, B., Lehrach, H., Hirsch-Kauffmann, M., and Schweiger, M.R. (2014). The bromodomain protein BRD4 regulates the KEAP1/NRF2-dependent oxidative stress response. Cell Death Dis 5, e1195.
Ikram, F., Ackermann, S., Roels, E., Volland, R., Hero, B., Hertwig, F., Kocak, H., Dreidax, D., Henrich, K.O., Berthold, F., Nurnberg, P., Westermann, F., and Fischer, M. (2014). Transcription factor activating protein 2 beta (TFAP2B) mediates neuronal differentiation in neuroblastoma. Eur J Cancer 50 6, 130-131.
ilhavý, J., Zídek, V., Landa, V., imáková, M., Mlejnek, P., kop, V., Oliyarnyk, O., Kazdová, L., Mancini, M., Saar, K., Schulz, H., Hübner, N., Kurtz, T.W., and Pravenec, M. (2014). Rosuvastatin can block pro-inflammatory actions of transgenic human C-reactive protein without reducing its circulating levels. Cardiovasc Ther 32, 59-65.
Khan, M.A., Rupp, V.M., Orpinell, M., Hussain, M.S., Altmüller, J., Steinmetz, M.O., Enzinger, C., Thiele, H., Höhne, W., Nürnberg, G., Baig, S.M., Ansar, M., Nürnberg, P., Vincent, J.B., Speicher, M.R., Gönczy, P., and Windpassinger, C. (2014). A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family. Hum Mol Genet 23, 5940-5949.
Krug, A., Cabanis, M., Pyka, M., Pauly, K., Kellermann, T., Walter, H., Wagner, M., Landsberg, M., Shah, N.J., Winterer, G., Wölwer, W., Brinkmeyer, J., Müller, B.W., Kärgel, C., Wiedemann, G., Herrlich, J., Vogeley, K., Schilbach, L., Rapp, A., Klingberg, S., and Kircher, T. (2014). Attenuated prefrontal activation during decision-making under uncertainty in schizophrenia: a multi-center fMRI study. Schizophr Res 152, 176-183.
Krug, A., Cabanis, M., Pyka, M., Pauly, K., Walter, H., Landsberg, M., Shah, N.J., Winterer, G., Wölwer, W., Musso, F., Müller, B.W., Wiedemann, G., Herrlich, J., Schnell, K., Vogeley, K., Schilbach, L., Langohr, K., Rapp, A., Klingberg, S., and Kircher, T. (2014). Investigation of decision-making under uncertainty in healthy subjects: a multi-centric fMRI study. Behav Brain Res 261, 89-96.
Lal, D., Reinthaler, E.M., Schubert, J., Muhle, H., Riesch, E., Kluger, G., Jabbari, K., Kawalia, A., Bäumel, C., Holthausen, H., Hahn, A., Feucht, M., Neophytou, B., Haberlandt, E., Becker, F., Altmüller, J., Thiele, H., Lemke, J.R., Lerche, H., Nürnberg, P., Sander, T., Weber, Y., Zimprich, F., and Neubauer, B.A. (2014). DEPDC5 mutations in genetic focal epilepsies of childhood. Ann Neurol 75, 788-792.
Lessel, D., Saha, B., Hisama, F., Kaymakamzade, B., Nurlu, G., Gursoy-Özdemir, Y., Thiele, H., Nürnberg, P., Martin, G.M., Kubisch, C., and Oshima, J. (2014). Atypical Aicardi-Goutieres syndrome: is the WRN locus a modifier? Am J Med Genet A 164A, 2510-2513.
Lessel, D., Vaz, B., Halder, S., Lockhart, P.J., Marinovic-Terzic, I., Lopez-Mosqueda, J., Philipp, M., Sim, J.C., Smith, K.R., Oehler, J., Cabrera, E., Freire, R., Pope, K., Nahid, A., Norris, F., Leventer, R.J., Delatycki, M.B., Barbi, G., von Ameln, S., Högel, J., Degoricija, M., Fertig, R., Burkhalter, M.D., Hofmann, K., Thiele, H., Altmüller, J., Nürnberg, G., Nürnberg, P., Bahlo, M., Martin, G.M., Aalfs, C.M., Oshima, J., Terzic, J., Amor, D.J., Dikic, I., Ramadan, K., and Kubisch, C. (2014). Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features. Nat Genet 46, 1239-1244.
Ma, X., Pietsch, J., Wehland, M., Schulz, H., Saar, K., Hübner, N., Bauer, J., Braun, M., Schwarzwälder, A., Segerer, J., Birlem, M., Horn, A., Hemmersbach, R., Waßer, K., Grosse, J., Infanger, M., and Grimm, D. (2014). Differential gene expression profile and altered cytokine secretion of thyroid cancer cells in space. FASEB J 28, 813-835.
Mansfield, C., Buyandelger, B., Kostin, S., Knoell, G., Toliat, M.R., Perrot, A., Haverkamp, W., Milting, H., Nurnberg, P., and Knoell, R. (2014). The role of MIP1 in cardiac myocyte hypertrophy and survival. Cardiovasc Res 103 1.
Martin, C.A., Ahmad, I., Klingseisen, A., Hussain, M.S., Bicknell, L.S., Leitch, A., Nürnberg, G., Toliat, M.R., Murray, J.E., Hunt, D., Khan, F., Ali, Z., Tinschert, S., Ding, J., Keith, C., Harley, M.E., Heyn, P., Müller, R., Hoffmann, I., Daire, V.C., Dollfus, H., Dupuis, L., Bashamboo, A., McElreavey, K., Kariminejad, A., Mendoza-Londono, R., Moore, A.T., Saggar, A., Schlechter, C., Weleber, R., Thiele, H., Altmüller, J., Höhne, W., Hurles, M.E., Noegel, A.A., Baig, S.M., Nürnberg, P., and Jackson, A.P. (2014). Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy. Nat Genet 46, 1283-1292.
Menzler, K., Hermsen, A., Balkenhol, K., Duddek, C., Bugiel, H., Bauer, S., Schorge, S., Reif, P.S., Klein, K.M., Haag, A., Oertel, W.H., Hamer, H.M., Knake, S., Trucks, H., Sander, T., Rosenow, F., Consortium, E., Avanzini, G., Baulac, M., Bentivoglio, M., Blumcke, I., Cesuroglu, T., Freund, T., Beck, H., Heinemann, U., Kokaia, M., Koelemann, B., Lehesjoki, A.E., Lerche, H., Luhmann, H., Ozbek, U., Perucca, E., Pitkanen, A., Serratosa, J., Simonato, M., Sperk, G., Walker, M., Vezzani, A., Zara, F., Zelphati, O., Wahlbeg, L.U., Menn, B., Glynn, M., Finocchiaro, C., Guerrini, R., Baker, M., Lund, S., de Boer, H., and Mifsud, J. (2014). A common SCN1A splice-site polymorphism modifies the effect of carbamazepine on cortical excitability--a pharmacogenetic transcranial magnetic stimulation study. Epilepsia 55, 362-369.
Metodiev, M.D., Spåhr, H., Loguercio Polosa, P., Meharg, C., Becker, C., Altmueller, J., Habermann, B., Larsson, N.G., and Ruzzenente, B. (2014). NSUN4 is a dual function mitochondrial protein required for both methylation of 12S rRNA and coordination of mitoribosomal assembly. PLoS Genet 10, e1004110.
Morin, G., Bruechle, N.O., Singh, A.R., Knopp, C., Jedraszak, G., Elbracht, M., Brémond-Gignac, D., Hartmann, K., Sevestre, H., Deutz, P., Hérent, D., Nürnberg, P., Roméo, B., Konrad, K., Mathieu-Dramard, M., Oldenburg, J., Bourges-Petit, E., Shen, Y., Zerres, K., Ouadid-Ahidouch, H., and Rochette, J. (2014). Gain-of-Function Mutation in STIM1 (P.R304W) Is Associated with Stormorken Syndrome. Hum Mutat 35, 1221-1232.
Murray, J.E., Bicknell, L.S., Yigit, G., Duker, A.L., van Kogelenberg, M., Haghayegh, S., Wieczorek, D., Kayserili, H., Albert, M.H., Wise, C.A., Brandon, J., Kleefstra, T., Warris, A., van der Flier, M., Bamforth, J.S., Doonanco, K., Adès, L., Ma, A., Field, M., Johnson, D., Shackley, F., Firth, H., Woods, C.G., Nürnberg, P., Gatti, R.A., Hurles, M., Bober, M.B., Wollnik, B., and Jackson, A.P. (2014). Extreme growth failure is a common presentation of ligase IV deficiency. Hum Mutat 35, 76-85.
Ng, J., Zhen, J., Meyer, E., Erreger, K., Li, Y., Kakar, N., Ahmad, J., Thiele, H., Kubisch, C., Rider, N.L., Morton, D.H., Strauss, K.A., Puffenberger, E.G., D'Agnano, D., Anikster, Y., Carducci, C., Hyland, K., Rotstein, M., Leuzzi, V., Borck, G., Reith, M.E., and Kurian, M.A. (2014). Dopamine transporter deficiency syndrome: phenotypic spectrum from infancy to adulthood. Brain 137, 1107-1119.
Pernhorst, K., van Loo, K.M.J., von Lehe, M., Priebe, L., Cichon, S., Herms, S., Hoffmann, P., Helmstaedter, C., Sander, T., Schoch, S., and Becker, A.J. (2014). Rs6295 promoter variants of the serotonin type 1A receptor are differentially activated by c-Jun in vitro and correlate to transcript levels in human epileptic brain tissue (vol 1499, pg 136, 2013). Brain Res 1555, 97-98.
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