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Bustos, B.I., Perez-Palma, E., Buch, S., Azocar, L., Riveras, E., Ugarte, G.D., Toliat, M., Nurnberg, P., Lieb, W., Franke, A., Hinz, S., Burmeister, G., von Schonfels, W., Schafmayer, C., Volzke, H., Volker, U., Homuth, G., Lerch, M.M., Santos, J.L., Puschel, K., Bambs, C., Roa, J.C., Gutierrez, R.A., Hampe, J., De Ferrari, G.V., and Miquel, J.F. (2019). Variants in ABCG8 and TRAF3 genes confer risk for gallstone disease in admixed Latinos with Mapuche Native American ancestry. Scientific reports 9, 772.

Heide, T., Maurer, A., Eipel, M., Knoll, K., Geelvink, M., Veeck, J., Knuechel, R., van Essen, J., Stoehr, R., Hartmann, A., Altmueller, J., Graham, T.A., and Gaisa, N.T. (2019). Multiregion human bladder cancer sequencing reveals tumour evolution, bladder cancer phenotypes and implications for targeted therapy. The Journal of pathology.

Kelly, M., Park, M., Mihalek, I., Rochtus, A., Gramm, M., Perez-Palma, E., Axeen, E.T., Hung, C.Y., Olson, H., Swanson, L., Anselm, I., Briere, L.C., High, F.A., Sweetser, D.A., Kayani, S., Snyder, M., Calvert, S., Scheffer, I.E., Yang, E., Waugh, J.L., Lal, D., Bodamer, O., and Poduri, A. (2019). Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate-binding region. Epilepsia 60, 406-418.

Lima Cunha, D., Alakloby, O.M., Gruber, R., Kakar, N., Ahmad, J., Alawbathani, S., Plank, R., Eckl, K., Krabichler, B., Altmuller, J., Nurnberg, P., Zschocke, J., Borck, G., Schmuth, M., Alabdulkareem, A.S., Abdulaziz Alnutaifi, K., and Hennies, H.C. (2019). Unknown mutations and genotype/phenotype correlations of autosomal recessive congenital ichthyosis in patients from Saudi Arabia and Pakistan. Molecular genetics & genomic medicine, e539.

Maljevic, S., Moller, R.S., Reid, C.A., Perez-Palma, E., Lal, D., May, P., and Lerche, H. (2019). Spectrum of GABAA receptor variants in epilepsy. Current opinion in neurology 32, 183-190.

Prasetyanti, P.R., van Hooff, S.R., van Herwaarden, T., de Vries, N., Kalloe, K., Rodermond, H., van Leersum, R., de Jong, J.H., Franitza, M., Nurnberg, P., Todaro, M., Stassi, G., and Medema, J.P. (2019). Capturing colorectal cancer inter-tumor heterogeneity in patient-derived xenograft (PDX) models. International journal of cancer Journal international du cancer 144, 366-371.

Renner, S., Schuler, H., Alawi, M., Kolbe, V., Rybczynski, M., Woitschach, R., Sheikhzadeh, S., Stark, V.C., Olfe, J., Roser, E., Seggewies, F.S., Mahlmann, A., Hempel, M., Hartmann, M.J., Hillebrand, M., Wieczorek, D., Volk, A.E., Kloth, K., Koch-Hogrebe, M., Abou Jamra, R., Mitter, D., Altmuller, J., Wey-Fabrizius, A., Petersen, C., Rau, I., Borck, G., Kubisch, C., Mir, T.S., von Kodolitsch, Y., Kutsche, K., and Rosenberger, G. (2019). Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients. Genetics in medicine : official journal of the American College of Medical Genetics.

Vidal, E.A., Moyano, T.C., Bustos, B.I., Perez-Palma, E., Moraga, C., Riveras, E., Montecinos, A., Azocar, L., Soto, D.C., Vidal, M., Di Genova, A., Puschel, K., Nurnberg, P., Buch, S., Hampe, J., Allende, M.L., Cambiazo, V., Gonzalez, M., Hodar, C., Montecino, M., Munoz-Espinoza, C., Orellana, A., Reyes-Jara, A., Travisany, D., Vizoso, P., Moraga, M., Eyheramendy, S., Maass, A., De Ferrari, G.V., Miquel, J.F., and Gutierrez, R.A. (2019). Whole Genome Sequence, Variant Discovery and Annotation in Mapuche-Huilliche Native South Americans. Scientific reports 9, 2132.

Wolking, S., May, P., Mei, D., Moller, R.S., Balestrini, S., Helbig, K.L., Altuzarra, C.D., Chatron, N., Kaiwar, C., Stohr, K., Widdess-Walsh, P., Mendelsohn, B.A., Numis, A., Cilio, M.R., Van Paesschen, W., Svendsen, L.L., Oates, S., Hughes, E., Goyal, S., Brown, K., Sifuentes Saenz, M., Dorn, T., Muhle, H., Pagnamenta, A.T., Vavoulis, D.V., Knight, S.J.L., Taylor, J.C., Canevini, M.P., Darra, F., Gavrilova, R.H., Powis, Z., Tang, S., Marquetand, J., Armstrong, M., McHale, D., Klee, E.W., Kluger, G.J., Lowenstein, D.H., Weckhuysen, S., Pal, D.K., Helbig, I., Guerrini, R., Thomas, R.H., Rees, M.I., Lesca, G., Sisodiya, S.M., Weber, Y.G., Lal, D., Marini, C., Lerche, H., and Schubert, J. (2019). Clinical spectrum of STX1B-related epileptic disorders. Neurology.

Ying, Z., Wang, I., Blumcke, I., Bulacio, J., Alexopoulos, A., Jehi, L., Bingaman, W., Gonzalez-Martinez, J., Kobow, K., Niestroj, L.M., Lal, D., Koelble, K., and Najm, I. (2019). A comprehensive clinico-pathological and genetic evaluation of bottom-of-sulcus focal cortical dysplasia in patients with difficult-to-localize focal epilepsy. Epileptic disorders : international epilepsy journal with videotape 21, 65-77.


Ackermann, S., Cartolano, M., Hero, B., Welte, A., Kahlert, Y., Roderwieser, A., Bartenhagen, C., Walter, E., Gecht, J., Kerschke, L., Volland, R., Menon, R., Heuckmann, J.M., Gartlgruber, M., Hartlieb, S., Henrich, K.O., Okonechnikov, K., Altmüller, J., Nürnberg, P., Lefever, S., de Wilde, B., Sand, F., Ikram, F., Rosswog, C., Fischer, J., Theissen, J., Hertwig, F., Singhi, A.D., Simon, T., Vogel, W., Perner, S., Krug, B., Schmidt, M., Rahmann, S., Achter, V., Lang, U., Vokuhl, C., Ortmann, M., Büttner, R., Eggert, A., Speleman, F., O'Sullivan, R.J., Thomas, R.K., Berthold, F., Vandesompele, J., Schramm, A., Westermann, F., Schulte, J.H., Peifer, M., and Fischer, M. (2018). A mechanistic classification of clinical phenotypes in neuroblastoma. Science 362, 1165-1170.

Ahmad, F., Nasir, A., Thiele, H., Umair, M., Borck, G., and Ahmad, W. (2018). A novel homozygous missense variant in NECTIN4 (PVRL4) causing ectodermal dysplasia cutaneous syndactyly syndrome. Ann Hum Genet 82, 232-238.

Alawbathani, S., Kawalia, A., Karakaya, M., Altmuller, J., Nurnberg, P., and Cirak, S. (2018). Late diagnosis of a truncating W1SP3 mutation entails a severe phenotype of progressive pseudorheumatoid dysplasia. Cold Spring Harb Mol Case Stud 4, a002139.

Alston, C.L., Heidler, J., Dibley, M.G., Kremer, L.S., Taylor, L.S., Fratter, C., French, C.E., Glasgow, R.I.C., Feichtinger, R.G., Delon, I., Pagnamenta, A.T., Dolling, H., Lemonde, H., Aiton, N., Bjørnstad, A., Henneke, L., Gärtner, J., Thiele, H., Tauchmannova, K., Quaghebeur, G., Houstek, J., Sperl, W., Raymond, F.L., Prokisch, H., Mayr, J.A., McFarland, R., Poulton, J., Ryan, M.T., Wittig, I., Henneke, M., and Taylor, R.W. (2018). Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency. Am J Hum Genet 103, 592-601.

Andrews, K., Brennan, L., Blacklock, L., Hennies, H.C., Marriott, A., and Eckl, K.M. (2018). Understanding methylation patterns and histone modification changes in keratinocytes from patients with autosomal recessive congenital ichthyosis. Br J Dermatol 178, E425-E425.

Asadollahi, R., Strauss, J.E., Zenker, M., Beuing, O., Edvardson, S., Elpeleg, O., Strom, T.M., Joset, P., Niedrist, D., Otte, C., Oneda, B., Boonsawat, P., Azzarello-Burri, S., Bartholdi, D., Papik, M., Zweier, M., Haas, C., Ekici, A.B., Baumer, A., Boltshauser, E., Steindl, K., Nothnagel, M., Schinzel, A., Stoeckli, E.T., and Rauch, A. (2018). Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling. Eur J Hum Genet 26, 197-209.

Bobbili, D.R., Lal, D., May, P., Reinthaler, E.M., Jabbari, K., Thiele, H., Nothnagel, M., Jurkowski, W., Feucht, M., Nürnberg, P., Lerche, H., Zimprich, F., Krause, R., Neubauer, B.A., Steinböck, H., Neophytou, B., Geldner, J., Gruber-Sedlmayr, U., Haberlandt, E., Ronen, G.M., Altmüller, J., Sander, T., Balling, R., and Consortium, E.C. (2018). Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy. Eur J Hum Genet 26, 258-264.

Bochtler, T., Endris, V., Reiling, A., Leichsenring, J., Schweiger, M.R., Klein, S., Stögbauer, F., Goeppert, B., Schirmacher, P., Krämer, A., and Stenzinger, A. (2018). Integrated Histogenetic Analysis Reveals -Mutated Epithelioid Mesothelioma in a Patient With Cancer of Unknown Primary. J Natl Compr Canc Netw 16, 677-682.

Boehm, V., Britto-Borges, T., Steckelberg, A.L., Singh, K.K., Gerbracht, J.V., Gueney, E., Blazquez, L., Altmüller, J., Dieterich, C., and Gehring, N.H. (2018). Exon Junction Complexes Suppress Spurious Splice Sites to Safeguard Transcriptome Integrity. Mol Cell 72, 482-495.e487.

Bogs, T., Zwink, N., Chonitzki, V., Hölscher, A., Boemers, T.M., Münsterer, O., Kurz, R., Heydweiller, A., Pauly, M., Leutner, A., Ure, B.M., Lacher, M., Deffaa, O.J., Thiele, H., Bagci, S., Jenetzky, E., Schumacher, J., and Reutter, H. (2018). Esophageal Atresia with or without Tracheoesophageal Fistula (EA/TEF): Association of Different EA/TEF Subtypes with Specific Co-occurring Congenital Anomalies and Implications for Diagnostic Workup. Eur J Pediatr Surg 28, 176-182.

Brainstorm, C., Anttila, V., Bulik-Sullivan, B., Finucane, H.K., Walters, R.K., Bras, J., Duncan, L., Escott-Price, V., Falcone, G.J., Gormley, P., Malik, R., Patsopoulos, N.A., Ripke, S., Wei, Z., Yu, D., Lee, P.H., Turley, P., Grenier-Boley, B., Chouraki, V., Kamatani, Y., Berr, C., Letenneur, L., Hannequin, D., Amouyel, P., Boland, A., Deleuze, J.F., Duron, E., Vardarajan, B.N., Reitz, C., Goate, A.M., Huentelman, M.J., Kamboh, M.I., Larson, E.B., Rogaeva, E., St George-Hyslop, P., Hakonarson, H., Kukull, W.A., Farrer, L.A., Barnes, L.L., Beach, T.G., Demirci, F.Y., Head, E., Hulette, C.M., Jicha, G.A., Kauwe, J.S.K., Kaye, J.A., Leverenz, J.B., Levey, A.I., Lieberman, A.P., Pankratz, V.S., Poon, W.W., Quinn, J.F., Saykin, A.J., Schneider, L.S., Smith, A.G., Sonnen, J.A., Stern, R.A., Van Deerlin, V.M., Van Eldik, L.J., Harold, D., Russo, G., Rubinsztein, D.C., Bayer, A., Tsolaki, M., Proitsi, P., Fox, N.C., Hampel, H., Owen, M.J., Mead, S., Passmore, P., Morgan, K., Nöthen, M.M., Rossor, M., Lupton, M.K., Hoffmann, P., Kornhuber, J., Lawlor, B., McQuillin, A., Al-Chalabi, A., Bis, J.C., Ruiz, A., Boada, M., Seshadri, S., Beiser, A., Rice, K., van der Lee, S.J., De Jager, P.L., Geschwind, D.H., Riemenschneider, M., Riedel-Heller, S., Rotter, J.I., Ransmayr, G., Hyman, B.T., Cruchaga, C., Alegret, M., Winsvold, B., Palta, P., Farh, K.H., Cuenca-Leon, E., Furlotte, N., Kurth, T., Ligthart, L., Terwindt, G.M., Freilinger, T., Ran, C., Gordon, S.D., Borck, G., Adams, H.H.H., Lehtimäki, T., Wedenoja, J., Buring, J.E., Schürks, M., Hrafnsdottir, M., Hottenga, J.J., Penninx, B., Artto, V., Kaunisto, M., Vepsäläinen, S., Martin, N.G., Montgomery, G.W., Kurki, M.I., Hämäläinen, E., Huang, H., Huang, J., Sandor, C., Webber, C., Muller-Myhsok, B., Schreiber, S., Salomaa, V., Loehrer, E., Göbel, H., Macaya, A., Pozo-Rosich, P., Hansen, T., Werge, T., Kaprio, J., Metspalu, A., Kubisch, C., Ferrari, M.D., Belin, A.C., van den Maagdenberg, A., Zwart, J.A., Boomsma, D., Eriksson, N., Olesen, J., Chasman, D.I., Nyholt, D.R., Avbersek, A., Baum, L., Berkovic, S., Bradfield, J., Buono, R., Catarino, C.B., Cossette, P., De Jonghe, P., Depondt, C., Dlugos, D., Ferraro, T.N., French, J., Hjalgrim, H., Jamnadas-Khoda, J., Kälviäinen, R., Kunz, W.S., Lerche, H., Leu, C., Lindhout, D., Lo, W., Lowenstein, D., McCormack, M., Møller, R.S., Molloy, A., Ng, P.W., Oliver, K., Privitera, M., Radtke, R., Ruppert, A.K., Sander, T., Schachter, S., Schankin, C., Scheffer, I., Schoch, S., Sisodiya, S.M., Smith, P., Sperling, M., Striano, P., Surges, R., Thomas, G.N., Visscher, F., Whelan, C.D., Zara, F., Heinzen, E.L., Marson, A., Becker, F., Stroink, H., Zimprich, F., Gasser, T., Gibbs, R., Heutink, P., Martinez, M., Morris, H.R., Sharma, M., Ryten, M., Mok, K.Y., Pulit, S., Bevan, S., Holliday, E., Attia, J., Battey, T., Boncoraglio, G., Thijs, V., Chen, W.M., Mitchell, B., Rothwell, P., Sharma, P., Sudlow, C., Vicente, A., Markus, H., Kourkoulis, C., Pera, J., Raffeld, M., Silliman, S., Boraska Perica, V., Thornton, L.M., Huckins, L.M., William Rayner, N., Lewis, C.M., Gratacos, M., Rybakowski, F., Keski-Rahkonen, A., Raevuori, A., Hudson, J.I., Reichborn-Kjennerud, T., Monteleone, P., Karwautz, A., Mannik, K., Baker, J.H., O'Toole, J.K., Trace, S.E., Davis, O.S.P., Helder, S.G., Ehrlich, S., Herpertz-Dahlmann, B., Danner, U.N., van Elburg, A.A., Clementi, M., Forzan, M., Docampo, E., Lissowska, J., Hauser, J., Tortorella, A., Maj, M., Gonidakis, F., Tziouvas, K., Papezova, H., Yilmaz, Z., Wagner, G., Cohen-Woods, S., Herms, S., Julià, A., Rabionet, R., Dick, D.M., Ripatti, S., Andreassen, O.A., Espeseth, T., Lundervold, A.J., Steen, V.M., Pinto, D., Scherer, S.W., Aschauer, H., Schosser, A., Alfredsson, L., Padyukov, L., Halmi, K.A., Mitchell, J., Strober, M., Bergen, A.W., Kaye, W., Szatkiewicz, J.P., Cormand, B., Ramos-Quiroga, J.A., Sánchez-Mora, C., Ribasés, M., Casas, M., Hervas, A., Arranz, M.J., Haavik, J., Zayats, T., Johansson, S., Williams, N., Dempfle, A., Rothenberger, A., Kuntsi, J., Oades, R.D., Banaschewski, T., Franke, B., Buitelaar, J.K., Arias Vasquez, A., Doyle, A.E., Reif, A., Lesch, K.P., Freitag, C., Rivero, O., Palmason, H., Romanos, M., Langley, K., Rietschel, M., Witt, S.H., Dalsgaard, S., Børglum, A.D., Waldman, I., Wilmot, B., Molly, N., Bau, C.H.D., Crosbie, J., Schachar, R., Loo, S.K., McGough, J.J., Grevet, E.H., Medland, S.E., Robinson, E., Weiss, L.A., Bacchelli, E., Bailey, A., Bal, V., Battaglia, A., Betancur, C., Bolton, P., Cantor, R., Celestino-Soper, P., Dawson, G., De Rubeis, S., Duque, F., Green, A., Klauck, S.M., Leboyer, M., Levitt, P., Maestrini, E., Mane, S., De-Luca, D.M., Parr, J., Regan, R., Reichenberg, A., Sandin, S., Vorstman, J., Wassink, T., Wijsman, E., Cook, E., Santangelo, S., Delorme, R., Rogé, B., Magalhaes, T., Arking, D., Schulze, T.G., Thompson, R.C., Strohmaier, J., Matthews, K., Melle, I., Morris, D., Blackwood, D., McIntosh, A., Bergen, S.E., Schalling, M., 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Braun, D.A., Lovric, S., Schapiro, D., Schneider, R., Marquez, J., Asif, M., Hussain, M.S., Daga, A., Widmeier, E., Rao, J., Ashraf, S., Tan, W., Lusk, C.P., Kolb, A., Jobst-Schwan, T., Schmidt, J.M., Hoogstraten, C.A., Eddy, K., Kitzler, T.M., Shril, S., Moawia, A., Schrage, K., Khayyat, A.I.A., Lawson, J.A., Gee, H.Y., Warejko, J.K., Hermle, T., Majmundar, A.J., Hugo, H., Budde, B., Motameny, S., Altmüller, J., Noegel, A.A., Fathy, H.M., Gale, D.P., Waseem, S.S., Khan, A., Kerecuk, L., Hashmi, S., Mohebbi, N., Ettenger, R., Serdaro?lu, E., Alhasan, K.A., Hashem, M., Goncalves, S., Ariceta, G., Ubetagoyena, M., Antonin, W., Baig, S.M., Alkuraya, F.S., Shen, Q., Xu, H., Antignac, C., Lifton, R.P., Mane, S., Nürnberg, P., Khokha, M.K., and Hildebrandt, F. (2018). Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome. J Clin Invest 128, 4313-4328.

Bücker, R., Krug, S.M., Moos, V., Bojarski, C., Schweiger, M.R., Kerick, M., Fromm, A., Janßen, S., Fromm, M., Hering, N.A., Siegmund, B., Schneider, T., Barmeyer, C., and Schulzke, J.D. (2018). Campylobacter jejuni impairs sodium transport and epithelial barrier function via cytokine release in human colon. Mucosal Immunol 11, 575-577.

Bücker, R., Krug, S.M., Moos, V., Bojarski, C., Schweiger, M.R., Kerick, M., Fromm, A., Janßen, S., Fromm, M., Hering, N.A., Siegmund, B., Schneider, T., Barmeyer, C., and Schulzke, J.D. (2018). Campylobacter jejuni impairs sodium transport and epithelial barrier function via cytokine release in human colon. Mucosal Immunol 11, 474-485.

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Altmuller, J., Haenisch, B., Kawalia, A., Menzen, M., Nothen, M.M., Fier, H., and Molderings, G.J. (2017). Mutational profiling in the peripheral blood leukocytes of patients with systemic mast cell activation syndrome using next-generation sequencing. Immunogenetics 69, 359-369.

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Awazawa, M., Gabel, P., Tsaousidou, E., Nolte, H., Kruger, M., Schmitz, J., Ackermann, P.J., Brandt, C., Altmuller, J., Motameny, S., Wunderlich, F.T., Kornfeld, J.W., Bluher, M., and Bruning, J.C. (2017). A microRNA screen reveals that elevated hepatic ectodysplasin A expression contributes to obesity-induced insulin resistance in skeletal muscle. Nat Med.

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Bramswig, N.C., Ludecke, H.J., Hamdan, F.F., Altmuller, J., Beleggia, F., Elcioglu, N.H., Freyer, C., Gerkes, E.H., Demirkol, Y.K., Knupp, K.G., Kuechler, A., Li, Y., Lowenstein, D.H., Michaud, J.L., Park, K., Stegmann, A.P.A., Veenstra-Knol, H.E., Wieland, T., Wollnik, B., Engels, H., Strom, T.M., Kleefstra, T., and Wieczorek, D. (2017). Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability. Human genetics 136, 821-834.

Bucker, R., Krug, S.M., Moos, V., Bojarski, C., Schweiger, M.R., Kerick, M., Fromm, A., Janssen, S., Fromm, M., Hering, N.A., Siegmund, B., Schneider, T., Barmeyer, C., and Schulzke, J.D. (2017). Campylobacter jejuni impairs sodium transport and epithelial barrier function via cytokine release in human colon. Mucosal immunology.

Crispatzu, G., Kulkarni, P., Toliat, M.R., Nurnberg, P., Herling, M., Herling, C.D., and Frommolt, P. (2017). Semi-automated cancer genome analysis using high-performance computing. Hum Mutat 38, 1325-1335.

Dennenmoser, S., Sedlazeck, F.J., Iwaszkiewicz, E., Li, X.Y., Altmuller, J., and Nolte, A.W. (2017). Copy number increases of transposable elements and protein-coding genes in an invasive fish of hybrid origin. Molecular ecology 26, 4712-4724.

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Fazeli, W., Herkenrath, P., Stiller, B., Neugebauer, A., Fricke, J., Lang-Roth, R., Nurnberg, G., Thoenes, M., Becker, J., Altmuller, J., Volk, A.E., Kubisch, C., and Heller, R. (2017). A TUBB6 mutation is associated with autosomal dominant non-progressive congenital facial palsy, bilateral ptosis and velopharyngeal dysfunction. Human molecular genetics 26, 4055-4066.

Goedbloed, D.J., Czypionka, T., Altmuller, J., Rodriguez, A., Kupfer, E., Segev, O., Blaustein, L., Templeton, A.R., Nolte, A.W., and Steinfartz, S. (2017). Parallel habitat acclimatization is realized by the expression of different genes in two closely related salamander species (genus Salamandra). Heredity 119, 429-437.

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Grau, J.H., Hilgers, L., Altmuller, J., Slechtova, V., and Bohlenc, J. (2017). The complete mitochondrial transcript of the red tail loach Yasuhikotakia modesta as assembled from RNAseq (Teleostei: Botiidae). Mitochondrial DNA B 2, 46-47.

Gruber, R., Rainer, G., Weiss, A., Udvardi, A., Thiele, H., Eckl, K.M., Schupart, R., Nurnberg, 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, 1068-1073.

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Haliloglu, G., Becker, K., Temucin, C., Talim, B., Kucuksahin, N., Pergande, M., Motameny, S., Nurnberg, P., Aydingoz, U., Topaloglu, H., and Cirak, S. (2017). Recessive PIEZO2 stop mutation causes distal arthrogryposis with distal muscle weakness, scoliosis and proprioception defects. Journal of human genetics 62, 497-501.

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Hartz, A., Pagel, J., Humberg, A., Preuss, M., Schreiter, L., Rupp, J., Figge, J., Karsten, C.M., Nurnberg, P., Herting, E., Gopel, W., and Hartel, C. (2017). The association of mannose-binding lectin 2 polymorphisms with outcome in very low birth weight infants. PLoS ONE 12, e0178032.

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Kanoungi, G., Nurnberg, P., and Nothnagel, M. (2017). Securing the use of existing sample collections for future human genetic research. European journal of human genetics : EJHG 25, 522-529.

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Khan, A.O., Budde, B.S., Nurnberg, P., Kawalia, A., Lenzner, S., and Bolz, H.J. (2017). 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.

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Moawia, A., Shaheen, R., Rasool, S., Waseem, S.S., Ewida, N., Budde, B., Kawalia, A., Motameny, S., Khan, K., Fatima, A., Jameel, M., Ullah, F., Akram, T., Ali, Z., Abdullah, U., Irshad, S., Hohne, W., Noegel, A.A., Al-Owain, M., Hortnagel, K., Stobe, P., Baig, S.M., Nurnberg, P., Alkuraya, F.S., Hahn, A., and Hussain, M.S. (2017). Mutations of KIF14 cause primary microcephaly by impairing cytokinesis. Ann Neurol 82, 562-577.

Moosa, S., Altmuller, J., Lyngbye, T., Christensen, R., Li, Y., Nurnberg, P., Yigit, G., Vogel, I., and Wollnik, B. (2017). Novel compound heterozygous mutations in TELO2 in a patient with severe expression of You-Hoover-Fong syndrome. Molecular genetics & genomic medicine 5, 580-584.

Moosa, S., Bohrer-Rabel, H., Altmuller, J., Beleggia, F., Nurnberg, P., Li, Y., Yigit, G., and Wollnik, B. (2017). Smith-Kingsmore syndrome: A third family with the MTOR mutation c.5395G>A p.(Glu1799Lys) and evidence for paternal gonadal mosaicism. American journal of medical genetics Part A 173, 264-267.

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Moosa, S., Loeys, B., Altmuller, J., Mortier, G., Nurnberg, P., Li, Y., Wollnik, B., and Vogel, I. (2017). Metatarsal bony syndactyly in 2 fetuses with Smith-Lemli-Opitz syndrome: An under-recognized part of the clinical spectrum. Clin Genet 92, 342-343.

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Andres, F., Romera-Branchat, M., Martinez-Gallegos, R., Patel, V., Schneeberger, K., Jang, S., Altmuller, J., Nurnberg, P., and Coupland, G. (2015). Floral Induction in Arabidopsis by FLOWERING LOCUS T Requires Direct Repression of BLADE-ON-PETIOLE Genes by the Homeodomain Protein PENNYWISE. Plant physiology 169, 2187-2199.

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Mackert,B.M., Leistner,S., Sander,T., Liebert,A., Wabnitz,H., Burghoff,M., Trahms,L., Macdonald,R., and Curio,G. (2008). Dynamics of cortical neurovascular coupling analyzed by simultaneous DC-magnetoencephalography and time-resolved near-infrared spectroscopy. Neuroimage. 39, 979-986.

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Nürnberg,G., Jacobi,F.K., Broghammer,M., Becker,C., Blin,N., Nürnberg,P., Stephani,U., and Pusch,C.M. (2008). Refinement of the MYP3 locus on human chromosome 12 in a German family with Mendelian autosomal dominant high-grade myopia by SNP array mapping. Int J Mol Med. 21, 429-438.

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Pasternack,S.M., von Kügelgen,I., Aboud,K.A., Lee,Y.A., Rüschendorf,F., Voss,K., Hillmer,A.M., Molderings,G.J., Franz,T., Ramirez,A., Nürnberg,P., Nöthen,M.M., and Betz,R.C. (2008). G protein-coupled receptor P2Y5 and its ligand LPA are involved in maintenance of human hair growth. Nat Genet. 40, 329-334.

Peterson,D.B., Sander,T., Kaul,S., Wakim,B.T., Halligan,B., Twigger,S., Pritchard,K.A., Oldham,K.T., and Ou,J.S. (2008). Comparative proteomic analysis of PAI-1 and TNF-alpha-derived endothelial microparticles. Proteomics. 8, 2430-2446.

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Sander,T., Sprenger,A., Machner,B., Rambold,H., and Helmchen,C. (2008). Disjunctive saccades during smooth pursuit eye movements in ocular myasthenia gravis. J Neurol. 255, 1094-1096.

Sanggaard,K.M., Kjaer,K.W., Eiberg,H., Nürnberg,G., Nürnberg,P., Hoffman,K., Jensen,H., Sørum,C., Rendtorff,N.D., and Tranebjaerg,L. (2008). A novel nonsense mutation in MYO6 is associated with progressive nonsyndromic hearing loss in a Danish DFNA22 family. Am J Med Genet A. 146A, 1017-1025.

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Gallinat,J., Götz,T., Kalus,P., Bajbouj,M., Sander,T., and Winterer,G. (2007). Genetic variations of the NR3A subunit of the NMDA receptor modulate prefrontal cerebral activity in humans. J Cogn Neurosci. 19, 59-68.

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Hempelmann,A., Cobilanschi,J., Heils,A., Muhle,H., Stephani,U., Weber,Y., Lerche,H., and Sander,T. (2007). Lack of evidence of an allelic association of a functional GABRB3 exon 1a promoter polymorphism with idiopathic generalized epilepsy. Epilepsy Res. 74, 28-32.

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Entz,P.; Blaumeiser,B.; Betz,R.C.; Lambert,J.; Seymons,K.; Eigelshoven,S.; Hanneken,S.; Kruse,R.; Nurnberg,P.; Nagy,M.; Nothen,M.M. Investigation of the HLA-DRB1 locus in alopecia areata. Eur J Dermatol. 2006;16(4):363-367.

Fehr,C., Sander,T., Tadic,A., Lenzen,K.P., Anghelescu,I., Klawe,C., Dahmen,N., Schmidt,L.G., and Szegedi,A. (2006). Confirmation of association of the GABRA2 gene with alcohol dependence by subtype-specific analysis. Psychiatr. Genet. 16, 9-17.

Franke,A.; Wollstein,A.; Teuber,M.; Wittig,M.; Lu,T.; Hoffmann,K.; Nurnberg,P.; Krawczak,M.; Schreiber,S.; Hampe,J. GENOMIZER: an integrated analysis system for genome-wide association data. Hum Mutat. 2006;27(6):583-588.

Garshasbi,M.; Motazacker,M.M.; Kahrizi,K.; Behjati,F.; Abedini,S.S.; Nieh,S.E.; Firouzabadi,S.G.; Becker,C.; Ruschendorf,F.; Nurnberg,P.; Tzschach,A.; Vazifehmand,R.; Erdogan,F.; Ullmann,R.; Lenzner,S.; Kuss,A.W.; Ropers,H.H.; Najmabadi,H. SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephaly. Hum.Genet. 2006;118(6):708-715.

Hannan F, Ho I, Tong JJ, Zhu Y, Nurnberg P, Zhong Y. Effect of neurofibromatosis type I mutations on a novel pathway for adenylyl cyclase activation requiring neurofibromin and Ras. Hum Mol Genet. 2006;15(7):1087-1098.

Hasselbacher,K.; Wiggins,R.C.; Matejas,V.; Hinkes,B.G.; Mucha,B.; Hoskins,B.E.; Ozaltin,F.; Nurnberg,G.; Becker,C.; Hangan,D.; Pohl,M.; Kuwertz-Broking,E; Griebel,M.; Schumacher,V.; Royer-Pokora,B.; Bakkaloglu,A.; Nurnberg,P.; Zenker,M.; Hildebrandt,F. Recessive missense mutations in LAMB2 expand the clinical spectrum of LAMB2-associated disorders. Kidney Int. 2006;70(6):1008-1012.

Hebebrand,J.; Dempfle,A.; Saar,K.; Thiele,H.; Herpertz-Dahlmann,B.; Linder,M.; Kiefl,H.; Remschmidt,H.; Hemminger,U.; Warnke,A.; Knolker,U.; Heiser,P.; Friedel,S.; Hinney,A.; Schafer,H.; Nurnberg,P.; Konrad,K. A genome-wide scan for attention-deficit/hyperactivity disorder in 155 German sib-pairs. Mol Psychiatry. 2006;11(2):196-205.

Hempelmann,A., Heils,A., and Sander,T. (2006). Confirmatory evidence for an association of the connexin-36 gene with juvenile myoclonic epilepsy. Epilepsy Res. 71, 223-228.

Hempelmann,A., Kumar,S., Muralitharan,S., and Sander,T. (2006). Myofibrillogenesis regulator 1 gene (MR-1) mutation in an Omani family with paroxysmal nonkinesigenic dyskinesia. Neurosci Lett. 402, 118-120.

Hempelmann,A.; Taylor,K.P.; Heils,A.; Lorenz,S.; Prud'homme,J.F.; Nabbout,R.; Dulac,O.; Rudolf,G.; Zara,F.; Bianchi,A.; Robinson,R.; Gardiner,R.M.; Covanis,A.; Lindhout,D.; Stephani,U.; Elger,C.E.; Weber,Y.G.; Lerche,H.; Nurnberg,P.; Kron,K.L.; Scheffer,I.E.; Mulley,J.C.; Berkovic,S.F.; Sander,T. Exploration of the genetic architecture of idiopathic generalized epilepsies. Epilepsia. 2006;47(10):1682-1690.

Hinkes,B.; Wiggins,R.C.; Gbadegesin,R.; Vlangos,C.N.; Seelow,D.; Nurnberg,G.; Garg,P.; Verma,R.; Chaib,H.; Hoskins,B.E.; Ashraf,S.; Becker,C.; Hennies,H.C.; Goyal,M.; Wharram,B.L.; Schachter,A.D.; Mudumana,S.; Drummond,I.; Kerjaschki,D.; Waldherr,R.; Dietrich,A.; Ozaltin,F.; Bakkaloglu,A.; Cleper,R.; Basel-Vanagaite,L.; Pohl,M.; Griebel,M.; Tsygin,A.N.; Soylu,A.; Muller,D.; Sorli,C.S.; Bunney,T.D.; Katan,M.; Liu,J.; Attanasio,M.; O'toole,J.F.; Hasselbacher,K.; Mucha,B.; Otto,E.A.; Airik,R.; Kispert,A.; Kelley,G.G.; Smrcka,A.V.; Gudermann,T.; Holzman,L.B.; Nurnberg,P.; Hildebrandt,F. Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible. Nat Genet. 2006.

Kalay,E.; Li,Y.; Uzumcu,A.; Uyguner,O.; Collin,R.W.; Caylan,R.; Ulubil-Emiroglu,M.; Kersten,F.F.; Hafiz,G.; van,Wijk E.; Kayserili,H.; Rohmann,E.; Wagenstaller,J.; Hoefsloot,L.H.; Strom,T.M.; Nurnberg,G.; Baserer,N.; den Hollander,A.I.; Cremers,F.P.; Cremers,C.W.; Becker,C.; Brunner,H.G.; Nurnberg,P.; Karaguzel,A. Basaran,S.; Kubisch,C.; Kremer,H.; Wollnik,B. Mutations in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing loss. Hum Mutat. 2006;27(7):633-639.

Kirchheiner,J., Lang,U., Stamm,T., Sander,T., and Gallinat,J. (2006). Association of CYP2D6 genotypes and personality traits in healthy individuals. J Clin Psychopharmacol. 26, 440-442.

Konrad,M.; Schaller,A.; Seelow,D.; Pandey,A.V.; Waldegger,S.; Lesslauer,A.; Vitzthum,H.; Suzuki,Y.; Luk,J.M.; Becker,C.; Schlingmann,K.P.; Schmid,M.; Rodriguez-Soriano,J.; Ariceta,G.; Cano,F.; Enriquez,R.; Juppner,H.; Bakkaloglu,S.A.; Hediger,M.A.; Gallati,S.; Neuhauss,S.C.; Nurnberg,P.; Weber,S. Mutations in the Tight-Junction Gene Claudin 19 (CLDN19) Are Associated with Renal Magnesium Wasting, Renal Failure, and Severe Ocular Involvement. Am J Hum Genet. 2006;79(5):949-957.

Loeffler,J.; Steffens,M.; Arlt,E.M.; Toliat,M.R.; Mezger,M.; Suk,A.; Wienker,T.F.; Hebart,H.; Nurnberg,P.; Boeckh,M.; Ljungman,P.; Trenschel,R.; Einsele,H. Polymorphisms in the genes encoding chemokine receptor 5, interleukin-10, and monocyte chemoattractant protein 1 contribute to cytomegalovirus reactivation and disease after allogeneic stem cell transplantation. J Clin Microbiol. 2006;44(5):1847-1850.

Lohoff,F.W., Dahl,J.P., Ferraro,T.N., Arnold,S.E., Gallinat,J., Sander,T., and Berrettini,W.H. (2006). Variations in the vesicular monoamine transporter 1 gene (VMAT1/SLC18A1) are associated with bipolar i disorder. Neuropsychopharmacology. 31, 2739-2747.

Lorenz,S., Heils,A., Taylor,K.P., Gehrmann,A., Muhle,H., Gresch,M., Becker,T., Tauer,U., Stephani,U., and Sander,T. (2006). Candidate gene analysis of the succinic semialdehyde dehydrogenase gene (ALDH5A1) in patients with idiopathic generalized epilepsy and photosensitivity. Neurosci Lett. 397, 234-239.

Lorenz,S., Taylor,K.P., Gehrmann,A., Becker,T., Muhle,H., Gresch,M., Tauer,U., Sander,T., and Stephani,U. (2006). Association of BRD2 polymorphisms with photoparoxysmal response. Neurosci Lett. 400, 135-139.

Marschenz,S.; Endres,A.S.; Brinckmann,A.; Heise,T.; Kristiansen,G.; Nurnberg,P.; Kruger,D.H.; Gunther,S.; Meisel,H. Functional analysis of complex hepatitis B virus variants associated with development of liver cirrhosis. Gastroenterology. 2006;131(3):765-780.

Rauch,A.; Hoyer,J.; Guth,S.; Zweier,C.; Kraus,C.; Becker,C.; Zenker,M.; Huffmeier,U.; Thiel,C.; Ruschendorf,F.; Nurnberg,P.; Reis,A.; Trautmann,U. Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation. Am J Med Genet A. 2006;140(19):2063-2074.

Rohmann,E.; Brunner,H.G.; Kayserili,H.; Uyguner,O.; Nurnberg,G.; Lew,E.D.; Dobbie,A.; Eswarakumar,V.P.; Uzumcu,A.; Ulubil-Emeroglu,M.; Leroy,J.G.; Li,Y.; Becker,C.; Lehnerdt,K.; Cremers,C.W.; Yuksel-Apak,M.; Nurnberg,P.; Kubisch,C.; Schlessinger,J.; van,Bokhoven H.; Wollnik,B. Mutations in different components of FGF signaling in LADD syndrome. Nat Genet. 2006;38(4):414-417.

Ruf,N.; Dunzinger,U.; Brinckmann,A.; Haaf,T.; Nurnberg,P.; Zechner,U. Expression profiling of uniparental mouse embryos is inefficient in identifying novel imprinted genes. Genomics 2006;87(4):509-519.

Sayer,J.A.; Otto,E.A.; O'toole,J.F.; Nurnberg,G.; Kennedy,M.A.; Becker,C.; Hennies,H.C.; Helou,J.; Attanasio,M.; Fausett,B.V.; Utsch,B.; Khanna,H.; Liu,Y.; Drummond,I.; Kawakami,I.; Kusakabe,T.; Tsuda,M.; Ma,L.; Lee,H.; Larson,R.G.; Allen,S.J.; Wilkinson,C.J.; Nigg,E.A.; Shou,C.; Lillo,C.; Williams,D.S.; Hoppe,B.; Kemper,M.J.; Neuhaus,T.; Parisi,M.A.; Glass,I.A.; Petry,M.; Kispert,A.; Gloy,J.; Ganner,A.; Walz,G.; Zhu,X.; Goldman,D.; Nurnberg,P.; Swaroop,A.; Leroux,M.R.; Hildebrandt F.The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4. Nat Genet. 2006;38(6):674-681.

Schirmer,M.; Toliat,M.R.; Haberl,M.; Suk,A.; Kamdem,L.K.; Klein,K.; Brockmoller,J.; Nurnberg,P.; Zanger,U.M.; Wojnowski,L. Genetic signature consistent with selection against the CYP3A4*1B allele in non-African populations. Pharmacogenet.Genomocs. 2006;16(1):59-71.

Steffens,M.; Lamina,C.; Illig,T.; Bettecken,T.; Vogler,R.; Entz,P.; Suk,E.K.; Toliat,M.R.; Klopp,N.; Caliebe,A.; Konig,I.R.; Kohler,K.; Ludemann,J.; Lacava,A.D.; Fimmers,R.; Lichtner,P.; Ziegler,A.; Wolf,A.; Krawczak,M.; Nurnberg,P.; Hampe,J.; Schreiber,S.; Meitinger,T.; Wichmann,H.E.; Roeder,K.; Wienker,T.F.; Baur,M.P. SNP-based analysis of genetic substructure in the German population. Hum Hered. 2006;62(1):20-29

Vanita,V.; Hennies,H.C.; Singh,D.; Nurnberg,P.; Sperling,K.; Singh,J.R. A novel mutation in GJA8 associated with autosomal dominant congenital cataract in a family of Indian origin. Mol.Vis. 2006;12:1217-1222.

Vanita,V.; Hejtmancik,J.F.; Hennies,H.C.; Guleria,K.; Nurnberg,P.; Singh,D.; Sperling,K.; Singh,J.R. Sutural cataract associated with a mutation in the ferritin light chain gene (FTL) in a family of Indian origin. Mol Vis. 2006;12:93-99.

von Brevern,M., Ta,N., Shankar,A., Wiste,A., Siegel,A., Radtke,A., Sander,T., and Escayg,A. (2006). Migrainous vertigo: mutation analysis of the candidate genes CACNA1A, ATP1A2, SCN1A, and CACNB4. Headache. 46, 1136-1141.

Vormfelde,S.V.; Schirmer,M.; Hagos,Y.; Toliat,M.R.; Engelhardt,S.; Meineke,I.; Burckhardt,G.; Nurnberg,P.; Brockmoller,J. Torsemide renal clearance and genetic variation in luminal and basolateral organic anion transporters. Br J Clin Pharmacol. 2006;62(3):323-335.

Vormfelde,S.V.; Schirmer,M.; Toliat,M.R.; Meineke,I.; Kirchheiner,J.; Nurnberg,P.; Brockmoller,J. Genetic variation at the CYP2C locus and its association with torsemide biotransformation. Pharmacogenomics J. 2006.

Widdig,A.; Nurnberg,P.; Bercovitch,F.B.; Trefilov,A.; Berard,J.B.; Kessler,M.J.; Schmidtke,J.; Streich,W.J.; Krawczak,M. Consequences of group fission for the patterns of relatedness among rhesus macaques. Mol Ecol. 2006;15(12):3825-3832.

Wycisk,K.A.; Budde,B.; Feil,S.; Skosyrski,S.; Buzzi,F.; Neidhardt,J.; Glaus,E.; Nurnberg,P.; Ruether,K.; Berger,W. Structural and functional abnormalities of retinal ribbon synapses due to Cacna2d4 mutation. Invest Ophthalmol Vis Sci. 2006;47(8):3523-3530.

Zheng,W.; Rosenstiel,P.; Huse,K.; Sina,C.; Valentonyte,R.; Mah,N.; Zeitlmann,L.; Grosse,J.; Ruf,N.; Nurnberg,P.; Costello,C.M.; Onnie,C.; Mathew,C.; Platzer,M.; Schreiber,S.; Hampe,J. Evaluation of AGR2 and AGR3 as candidate genes for inflammatory bowel disease. Genes Immun. 2006;7(1):11-18.



Bertrand,D., Elmslie,F., Hughes,E., Trounce,J., Sander,T., Bertrand,S., and Steinlein,O.K. (2005). The CHRNB2 mutation I312M is associated with epilepsy and distinct memory deficits. Neurobiol Dis. 20, 799-804.

Entz,P.; Toliat,M.R.; Hampe,J.; Valentonyte,R.; Jenisch,S.; Nurnberg,P.; Nagy,M. New strategies for efficient typing of HLA class-II loci DQB1 and DRB1 by using Pyrosequencing. Tissue Antigens. 2005;65(1):67-80.

Godde,R.; Rohde,K.; Becker,C.; Toliat,M.R.; Entz,P.; Suk,A.; Muller,N.; Sindern,E.; Haupts,M.; Schimrigk,S.; Nurnberg,P.; Epplen,J.T. Association of the HLA region with multiple sclerosis as confirmed by a genome screen using >10,000 SNPs on DNA chips. J Mol Med. 2005;83(6):486-494.

Graw,J.; Loster,J.; Puk,O.; Munster,D.; Haubst,N.; Soewarto,D.; Fuchs,H.; Meyer,B.; Nurnberg,P.; Pretsch,W.; Selby,P.; Favor,J.; Wolf,E.; Hrabe de Angelis, M. Three novel Pax6 alleles in the mouse leading to the same small-eye phenotype caused by different consequences at target promoters. Invest Ophthalmol Vis Sci. 2005;46(12):4671-4683.

Gu,W., Sander,T., Heils,A., Lenzen,K.P., and Steinlein,O.K. (2005). A new EF-hand containing gene EFHC2 on Xp11.4: tentative evidence for association with juvenile myoclonic epilepsy. Epilepsy Res. 66, 91-98.

Jenne,D.E.; Kley,R.A.; Vorgerd,M.; Schroder,J.M.; Weis,J.; Reimann,H.; Albrecht,B.; Nurnberg,P.; Thiele,H.; Muller,C.R.; Meng,G.; Witt,C.C.; Labeit,S. Limb girdle muscular dystrophy in a sibling pair with a homozygous Ser606Leu mutation in the alternatively spliced IS2 region of calpain 3. Biol Chem. 2005;386(1):61-67.

Kulle,B.; Schirmer,M.; Toliat,M.R.; Suk,A.; Becker,C.; Tzvetkov,M.V.; Brockmoller,J.; Bickeboller,H.; Hasenfuss,G.; Nurnberg,P.; Wojnowski,L. Application of genomewide SNP arrays for detection of simulated susceptibility loci. Hum Mutat. 2005;25(6):557-565.

Kurz,T.; Altmueller,J.; Strauch,K.; Ruschendorf,F.; Heinzmann,A.; Moffatt,M.F.; Cookson,W.O.; Inacio,F.; Nurnberg,P.; Stassen,H.H.; Deichmann,K.A. A genome-wide screen on the genetics of atopy in a multiethnic European population reveals a major atopy locus on chromosome 3q21.3. Allergy. 2005;60(2):192-199.

Lang,U.E., Hellweg,R., Kalus,P., Bajbouj,M., Lenzen,K.P., Sander,T., Kunz,D., and Gallinat,J. (2005). Association of a functional BDNF polymorphism and anxiety-related personality traits. Psychopharmacology (Berl). 180, 95-99.

Lenzen,K.P., Heils,A., Lorenz,S., Hempelmann,A., Hofels,S., Lohoff,F.W., Schmitz,B., and Sander,T. (2005). Supportive evidence for an allelic association of the human KCNJ10 potassium channel gene with idiopathic generalized epilepsy. Epilepsy Res. 63, 113-118.

Lenzen,K.P., Heils,A., Lorenz,S., Hempelmann,A., and Sander,T. (2005). Association analysis of malic enzyme 2 gene polymorphisms with idiopathic generalized epilepsy. Epilepsia. 46, 1637-1641.

Lenzen,K.P., Heils,A., Lorenz,S., Hempelmann,A., and Sander,T. (2005). Association analysis of the Arg220His variation of the human gene encoding the GABA delta subunit with idiopathic generalized epilepsy. Epilepsy Res. 65, 53-57.

Lohoff,F.W., Ferraro,T.N., Sander,T., Zhao,H., Dahl,J.P., Berrettini,W.H., and Buono,R.J. (2005). No association between common variations in the human alpha 2 subunit gene (ATP1A2) of the sodium-potassium-transporting ATPase and idiopathic generalized epilepsy. Neurosci Lett. 382, 33-38.

Lohoff,F.W., Sander,T., Ferraro,T.N., Dahl,J.P., Gallinat,J., and Berrettini,W.H. (2005). Confirmation of association between the Val66Met polymorphism in the brain-derived neurotrophic factor (BDNF) gene and bipolar I disorder. Am J Med Genet B Neuropsychiatr Genet. 139B, 51-53.

Malkin,I.; Dahm,S.; Suk,A.; Kobyliansky,E.; Toliat,M.; Ruf,N.; Livshits,G.; Nurnberg,P. Association of ANKH gene polymorphisms with radiographic hand bone size and geometry in a Chuvasha population. Bone. 2005;36(2):365-373.

Metherell,L.A.; Chapple,J.P.; Cooray,S.; David,A.; Becker,C.; Ruschendorf,F.; Naville,D.; Begeot,M.; Khoo,B.; Nurnberg,P.; Huebner,A.; Cheetham,M.E.; Clark,A.J. Mutations in MRAP, encoding a new interacting partner of the ACTH receptor, cause familial glucocorticoid deficiency type 2. Nat Genet. 2005;37(2):166-170.

Neubauer,B.A., Waltz,S., Grothe,M., Hahn,A., Tuxhorn,I., Sander,T., Kurlemann,G., and Stephani,U. (2005). Photosensitivity: genetics and clinical significance. Adv. Neurol. 95,217-226.

Reinhard C, Meyer B, Fuchs H, Stoeger,T.; Eder,G.; Ruschendorf,F.; Heyder,J.; Nurnberg,P.; de Angelis,M.H.; Schulz,H.

Ruschendorf F, Nurnberg P. ALOHOMORA: a tool for linkage analysis using 10K SNP array data. Bioinformatics. 2005;21(9):2123-2125.

Schmitt,B., Wohlrab,G., Sander,T., Steinlein,O.K., and Hajnal,B.L. (2005). Neonatal seizures with tonic clonic sequences and poor developmental outcome. Epilepsy Res. 65, 161-168.

Schumacher,J.; Kaneva,R.; Jamra,R.A.; Diaz,G.O.; Ohlraun,S.; Milanova,V.; Lee,Y.A.; Rivas,F.; Mayoral,F.; Fuerst,R., Flaquer,A.; Windemuth,C.; Gay,E.; Sanz,S.; Gonzalez,M.J.; Gil,S.; Cabaleiro,F.; del,Rio F.; Perez,F.; Haro,J.; Kostov,C.; Chorbov,V. Nikolova-Hill,A.; Stoyanova,V.; Onchev,G.; Kremensky,I.; Strauch,K.; Schulze,T.G.; Nurnberg,P.; Gaebel,W.; Klimke,A.; Auburger,G.; Wienker,T.F.; Kalaydjieva,L.; Propping,P.; Cichon,S.; Jablensky,A.; Rietschel,M.; Nothen,M.M.Genomewide scan and fine-mapping linkage studies in four European samples with bipolar affective disorder suggest a new susceptibility locus on chromosome 1p35-p36 and provides further evidence of loci on chromosome 4q31 and 6q24. Am J Hum Genet. 2005;77(6):1102-1111.

Straussberg R, Basel-Vanagaite L,, Kivity S Dabby,R.; Cirak,S.; Nurnberg,P.; Voit,T.; Mahajnah,M.; Inbar,D.; Saifi,G.M.; Lupski,J.R.; Delague,V.; Megarbane,A.; Richter,A.; Leshinsky,E.; Berkovic,S.F.An autosomal recessive cerebellar ataxia syndrome with upward gaze palsy, neuropathy, and seizures. Neurology. 2005;64(1):142-144.

Suk,E.K.; Malkin,I.; Dahm,S.; Kalichman,L.; Ruf,N.; Kobyliansky,E.; Toliat,M.; Rutsch,F.; Nurnberg,P.; Livshits,G. Association of ENPP1 gene polymorphisms with hand osteoarthritis in a Chuvasha population. Arthritis Res Ther. 2005;7(5):R1082-R1090.

Tadic,A., Dahmen,N., Szegedi,A., Rujescu,D., Giegling,I., Koller,G., Anghelescu,I., Fehr,C., Klawe,C., Preuss,U.W., Sander,T., Toliat,M.R., Singer,P., Bondy,B., and Soyka,M. (2005). Polymorphisms in the NMDA subunit 2B are not associated with alcohol dependence and alcohol withdrawal-induced seizures and delirium tremens. Eur Arch Psychiatry Clin Neurosci. 255, 129-135.

Tauer,U.; Lorenz,S.; Lenzen,K.P.; Heils,A.; Muhle,H.; Gresch,M.; Neubauer,B.A.; Waltz,S.; Rudolf,G.; Mattheisen,M.; Strauch,K.; Nurnberg,P.; Schmitz,B.; Stephani,U.; Sander,T. Genetic dissection of photosensitivity and its relation to idiopathic generalized epilepsy. Ann:Neurol. 2005;57(6): 866-873.

Tukel,T.; Uzumcu,A.; Gezer,A.; Kayserili,H.; Yuksel-Apak,M.; Uyguner,O.; Gultekin,S.H.; Hennies,H.C.; Nurnberg,P.; Desnick,R.J.; Wollnik,B. A new syndrome, congenital extraocular muscle fibrosis with ulnar hand anomalies, maps to chromosome 21qter. J Med Genet. 2005;42(5):408-415.

Tzvetkov MV, Becker C, Kulle B, Nurnberg P, Brockmoller J, Wojnowski L. Genome-wide single-nucleotide polymorphism arrays demonstrate high fidelity of multiple displacement-based whole-genome amplification. Electrophoresis. 2005;26(3):710-715.

Weber,S.; Mir,S.; Schlingmann,K.P.; Nurnberg,G.; Becker,C.; Kara,P.E.; Ozkayin,N.; Konrad,M.; Nurnberg,P.; Schaefer,F. Gene locus ambiguity in posterior urethral valves/prune-belly syndrome. Pediatr. Nephrol. 2005; 20(8): 1036-1042.

Wojnowski,L.; Kulle,B.; Schirmer,M.; Schluter,G.; Schmidt,A.; Rosenberger,A.; Vonhof,S.; Bickeboller,H.; Toliat,M.R.; Suk,E.K.; Tzvetkov,M.; Kruger,A.; Seifert,S.; Kloess,M.; Hahn,H.; Loeffler,M.; Nurnberg,P.; Pfreundschuh,M.; Trumper,L.; Brockmoller,J.; Hasenfuss,G. NAD(P)H oxidase and multidrug resistance protein genetic polymorphisms are associated with doxorubicin-induced cardiotoxicity. Circulation 2005;112(24):3754-3762.

Wolf,M.T.; Zalewski,I.; Martin,F.C.; Ruf,R.; Muller,D.; Hennies,H.C.; Schwarz,S.; Panther,F.; Attanasio,M.; Acosta,H.G.; Imm,A.; Lucke,B.; Utsch,B.; Otto,E.; Nurnberg,P.; Nieto,V.G.; Hildebrandt,F. Mapping a new suggestive gene locus for autosomal dominant nephrolithiasis to chromosome 9q33.2-q34.2 by total genome search for linkage. Nephrol Dial Transplant. 2005;20(5):909-914.

zur,Stadt U.; Schmidt,S.; Kasper,B.; Beutel,K.; Diler,A.S.; Henter,J.I.; Kabisch,H.; Schneppenheim,R.; Nurnberg,P.; Janka,G.; Hennies,H.C. Linkage of familial hemophagocytic lymphohistiocytosis (FHL) type-4 to chromosome 6q24 and identification of mutations in syntaxin 11. Hum Mol Genet. 2005;14(6):827-834.