Homozygous XYLT2 variants as a cause of spondyloocular syndrome von Umair, M., Eckstein, G., Rudolph, G., Strom, T., Graf, E., Hendig, D., Hoover, J., Alanay, J., Meitinger, T., Schmidt, H., Ahmad, W.

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Genotype‐guided diagnostic reassessment after exome sequencing in neuromuscular disorders: experiences with a two‐step approach von Krenn, M., Tomschik, M., Rath, J., Cetin, H., Grisold, A., Zulehner, G., Milenkovic, I., Stogmann, E., Zimprich, A., Strom, T. M., Meitinger, T., Wagner, M., Zimprich, F.

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A KATP channel gene effect on sleep duration: from genome-wide association studies to function in Drosophila von Allebrandt, K V, Amin, N, Müller-Myhsok, B, Esko, T, Teder-Laving, M, Azevedo, R V D M, Hayward, C, van Mill, J, Vogelzangs, N, Green, E W, Melville, S A, Lichtner, P, Wichmann, H-E, Oostra, B A, Janssens, A C J W, Campbell, H, Wilson, J F, Hicks, A A, Pramstaller, P P, Dogas, Z, Rudan, I, Merrow, M, Penninx, B, Kyriacou, C P, Metspalu, A, van Duijn, C M, Meitinger, T, Roenneberg, T

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Genome-wide association studies of atrial fibrillation: past, present, and future von Sinner, Moritz F, Ellinor, Patrick T, Meitinger, Thomas, Benjamin, Emelia J, Kääb, Stefan

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Extension of the phenotype of biallelic loss‐of‐function mutations in SLC25A46 to the severe form of pontocerebellar hypoplasia type I von Braunisch, M.C., Gallwitz, H., Abicht, A., Diebold, I., Holinski‐Feder, E., Van Maldergem, L., Lammens, M., Kovács‐Nagy, R., Alhaddad, B., Strom, T.M., Meitinger, T., Senderek, J., Rudnik‐Schöneborn, S., Haack, T.B.

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Identification of recurring tumor-specific somatic mutations in acute myeloid leukemia by transcriptome sequencing von Greif, P A, Eck, S H, Konstandin, N P, Benet-Pagès, A, Ksienzyk, B, Dufour, A, Vetter, A T, Popp, H D, Lorenz-Depiereux, B, Meitinger, T, Bohlander, S K, Strom, T M

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Replication of restless legs syndrome loci in three European populations von Kemlink, D, Polo, O, Frauscher, B, Gschliesser, V, Högl, B, Poewe, W, Vodicka, P, Vavrova, J, Sonka, K, Nevsimalova, S, Schormair, B, Lichtner, P, Silander, K, Peltonen, L, Gieger, C, Wichmann, H E, Zimprich, A, Roeske, D, Müller-Myhsok, B, Meitinger, T, Winkelmann, J

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MitoP2: the mitochondrial proteome database--now including mouse data von Prokisch, H, Andreoli, C, Ahting, U, Heiss, K, Ruepp, A, Scharfe, C, Meitinger, T

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Mitochondrial genetic variants identified to be associated with posttraumatic stress disorder von Flaquer, A, Baumbach, C, Ladwig, K-H, Kriebel, J, Waldenberger, M, Grallert, H, Baumert, J, Meitinger, T, Kruse, J, Peters, A, Emeny, R, Strauch, K

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Pleiotropic molecular targets of coxibs reveals novel genomic loci conferring coronary artery disease risk von Brænne, I, Willenborg, C, Reiz, B, Zeng, L, Tragante do Ó, V, Meitinger, T, Samani, N.J, Kessler, T, Asselbergs, F.W, Erdmann, J, Schunkert, H

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A splice site variant in the sodium channel gene SCN1A confers risk of febrile seizures von SCHLACHTER, K, GRUBER-SEDLMAYR, U, WICHMANN, H. E, LICHTNER, P, MEITINGER, T, STROM, T. M, ZIMPRICH, A, ZIMPRICH, F, STOGMANN, E, LAUSECKER, M, HOTZY, C, BALZAR, J, SCHUH, E, BAUMGARTNER, C, MUELLER, J. C, ILLIG, T

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VARIANT SCREENING OF THE CODING REGIONS OF MEIS1 IN PATIENTS WITH RESTLESS LEGS SYNDROME von SCHULTE, E. C, KNAUF, F, KEMLINK, D, SCHORMAIR, B, LICHTNER, P, GIEGER, C, MEITINGER, T, WINKELMANN, J

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Idiopathic generalized epilepsy phenotypes associated with different EFHC1 mutations von STOGMANN, E, LICHTNER, P, ZIMPRICH, F, ZIMPRICH, A, BAUMGARTNER, C, BONELLI, S, ASSEM-HILGER, E, LEUTMEZER, F, SCHMIED, M, HOTZY, C, STROM, T. M, MEITINGER, T

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Y-Chromosomal Diversity in Europe Is Clinal and Influenced Primarily by Geography, Rather than by Language von Rosser, Zoë H., Zerjal, Tatiana, Hurles, Matthew E., Adojaan, Maarja, Alavantic, Dragan, Amorim, António, Amos, William, Armenteros, Manuel, Arroyo, Eduardo, Barbujani, Guido, Beckman, Gunhild, Beckman, Lars, Bertranpetit, Jaume, Bosch, Elena, Bradley, Daniel G., Brede, Gaute, Cooper, Gillian, Côrte-Real, Helena B.S.M., de Knijff, Peter, Decorte, Ronny, Dubrova, Yuri E., Evgrafov, Oleg, Gilissen, Anja, Glisic, Sanja, Gölge, Mukaddes, Hill, Emmeline W., Jeziorowska, Anna, Kalaydjieva, Luba, Kayser, Manfred, Kivisild, Toomas, Kravchenko, Sergey A., Krumina, Astrida, Kučinskas, Vaidutis, Lavinha, João, Livshits, Ludmila A., Malaspina, Patrizia, Maria, Syrrou, McElreavey, Ken, Meitinger, Thomas A., Mikelsaar, Aavo-Valdur, Mitchell, R. John, Nafa, Khedoudja, Nicholson, Jayne, Nørby, Søren, Pandya, Arpita, Parik, Jüri, Patsalis, Philippos C., Pereira, Luísa, Peterlin, Borut, Pielberg, Gerli, Prata, Maria João, Previderé, Carlo, Roewer, Lutz, Rootsi, Siiri, Rubinsztein, D.C., Saillard, Juliette, Santos, Fabrício R., Stefanescu, Gheorghe, Sykes, Bryan C., Tolun, Aslihan, Villems, Richard, Tyler-Smith, Chris, Jobling, Mark A.

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The mitochondrial proteome database: MitoP2 von Elstner, M, Andreoli, C, Klopstock, T, Meitinger, T, Prokisch, H

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CRIM1 haploinsufficiency causes defects in eye development in human and mouse von Beleggia, F., Li, Y., Fan, J., Elcio lu, N. H., Toker, E., Wieland, T., Maumenee, I. H., Akarsu, N. A., Meitinger, T., Strom, T. M., Lang, R., Wollnik, B.

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P4.44 mitoNET – German network for mitochondrial disorders von Klopstock, T, Meitinger, T, Obermaier-Kusser, B

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MitoP2, an integrated database on mitochondrial proteins in yeast and man von Andreoli, C., Prokisch, H., Hörtnagel, K., Mueller, J. C., Münsterkötter, M., Scharfe, C., Meitinger, T.

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A gene ( PEX ) with homologies to endopeptidases is mutated in patients with X-linked hypophosphatemic rickets von Poustka, A, Davies, K.E, Lorenz, B, Korn, B, Drezner, M.K, O'Riordan, J.L.H, Pannetier, S, Rowe, P.S.N, Summerfield, T, Nesbitt, T, Meindl, A, Lehrach, H, Strom, T.M, Popowska, E, Mountford, R, Cagnoli, B, Mohnike, K.L, Hanauer, A, Reinhardt, R, Read, A.P, Econs, M.J, Murken, J, de Jong, P, Goulding, J.N, Hennig, S, Meitinger, T, Oudet, C, Francis, F, Pronicka, E

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Pex Gene Deletions in Gy and Hyp Mice Provide Mouse Models for X-Linked Hypophosphatemia von Strom, Tim M., Francis, Fiona, Lorenz, Bettina, Böddrich, Annett, Lehrach, Hans, Econs, Michael J., Meitinger, Thomas

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