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Publications

2014
    Reinthaler, E. M., Lal, D., Lebon, S., Hildebrand, M. S., Dahl, H. H., Regan, B. M., Feucht, M., Steinbock, H., Neophytou, B., Ronen, G. M., Roche, L., Gruber-Sedlmayr, U., Geldner, J., Haberlandt, E., Hoffmann, P., Herms, S., Gieger, C., Waldenberger, M., Franke, A., Wittig, M., Schoch, S., Becker, A. J., Hahn, A., Mannik, K., Toliat, M. R., Winterer, G., Lerche, H., Nurnberg, P., Mefford, H., Scheffer, I. E., Berkovic, S. F., Beckmann, J. S., Sander, T., Jacquemont, S., Reymond, A., Zimprich, F., Neubauer, B. A.: 16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy. Hum Mol Genet 2014,
    URL

    Giannuzzi, G., Migliavacca, E., Reymond, A.: Novel H3K4me3 marks are enriched at human- and chimpanzee-specific cytogenetic structures. Genome Res 2014,
    URL

    Rashidi-Nezhad, A., Talebi, S., Saebnouri, H., Akrami, S. M., Reymond, A.: The effect of homozygous deletion of the BBOX1 and Fibin genes on carnitine level and acyl carnitine profile. BMC Med Genet 2014, 15:75. URL

    Waszak, S. M., Kilpinen, H., Gschwind, A. R., Orioli, A., Raghav, S. K., Witwicki, R. M., Migliavacca, E., Yurovsky, A., Lappalainen, T., Hernandez, N., Reymond, A., Dermitzakis, E. T., Deplancke, B.: Identification and removal of low-complexity sites in allele-specific analysis of ChIP-seq data. Bioinformatics 2014, 30:165-71. URL

    Alfaiz, A. A., Micale, L., Mandriani, B., Augello, B., Pellico, M. T., Chrast, J., Xenarios, I., Zelante, L., Merla, G., Reymond, A.: TBC1D7 mutations are associated with intellectual disability, macrocrania, patellar dislocation, and celiac disease. Hum Mutat 2014, 35:447-51. URL

    Keane, T. M., Wong, K., Adams, D. J., Flint, J., Reymond, A., Yalcin, B.: Identification of structural variation in mouse genomes. Front Genet 2014, 5:192. URL

2013
    Kilpinen, H., Waszak, S. M., Gschwind, A. R., Raghav, S. K., Witwicki, R. M., Orioli, A., Migliavacca, E., Wiederkehr, M., Gutierrez-Arcelus, M., Panousis, N. I., Yurovsky, A., Lappalainen, T., Romano-Palumbo, L., Planchon, A., Bielser, D., Bryois, J., Padioleau, I., Udin, G., Thurnheer, S., Hacker, D., Core, L. J., Lis, J. T., Hernandez, N., Reymond, A., Deplancke, B., Dermitzakis, E. T.: Coordinated effects of sequence variation on DNA binding, chromatin structure, and transcription. Science 2013, 342:744-7. URL

    Steijger, T., Abril, J. F., Engstrom, P. G., Kokocinski, F., Akerman, M., Alioto, T., Ambrosini, G., Antonarakis, S. E., Behr, J., Bertone, P., Bohnert, R., Bucher, P., Cloonan, N., Derrien, T., Djebali, S., Du, J., Dudoit, S., Gerstein, M., Gingeras, T. R., Gonzalez, D., Grimmond, S. M., Guigo, R., Habegger, L., Harrow, J., Hubbard, T. J., Iseli, C., Jean, G., Kahles, A., Lagarde, J., Leng, J., Lefebvre, G., Lewis, S., Mortazavi, A., Niermann, P., Ratsch, G., Reymond, A., Ribeca, P., Richard, H., Rougemont, J., Rozowsky, J., Sammeth, M., Sboner, A., Schulz, M. H., Searle, S. M., Solorzano, N. D., Solovyev, V., Stanke, M., Stevenson, B. J., Stockinger, H., Valsesia, A., Weese, D., White, S., Wold, B. J., Wu, J., Wu, T. D., Zeller, G., Zerbino, D., Zhang, M. Q.: Assessment of transcript reconstruction methods for RNA-seq. Nat Methods 2013, 10:1177-84. URL

    Makrythanasis, P., van Bon, B. W., Steehouwer, M., Rodriguez-Santiago, B., Simpson, M., Dias, P., Anderlid, B. M., Arts, P., Bhat, M., Augello, B., Biamino, E., Bongers, E. M., Del Campo, M., Cordeiro, I., Cueto-Gonzalez, A. M., Cusco, I., Deshpande, C., Frysira, E., Izatt, L., Flores, R., Galan, E., Gener, B., Gilissen, C., Granneman, S. M., Hoyer, J., Yntema, H. G., Kets, C. M., Koolen, D. A., Marcelis, Cl, Medeira, A., Micale, L., Mohammed, S., de Munnik, S. A., Nordgren, A., Psoni, S., Reardon, W., Revencu, N., Roscioli, T., Ruiterkamp-Versteeg, M., Santos, H. G., Schoumans, J., Schuurs-Hoeijmakers, J. H., Silengo, M. C., Toledo, L., Vendrell, T., van der Burgt, I., van Lier, B., Zweier, C., Reymond, A., Trembath, R. C., Perez-Jurado, L., Dupont, J., de Vries, B. B., Brunner, H. G., Veltman, J. A., Merla, G., Antonarakis, S. E., Hoischen, A.: MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study. Clin Genet 2013, 84:539-45. URL

    Gheldof, N., Witwicki, R. M., Migliavacca, E., Leleu, M., Didelot, G., Harewood, L., Rougemont, J., Reymond, A.: Structural variation-associated expression changes are paralleled by chromatin architecture modifications. PLoS One 2013, 8:e79973. URL

2012
    Dunham, I., Kundaje, A., Aldred, S. F., Collins, P. J., Davis, C. A., Doyle, F., Epstein, C. B., Frietze, S., Harrow, J., Kaul, R., Khatun, J., Lajoie, B. R., Landt, S. G., Lee, B. K., Pauli, F., Rosenbloom, K. R., Sabo, P., Safi, A., Sanyal, A., Shoresh, N., Simon, J. M., Song, L., Trinklein, N. D., Altshuler, R. C., Birney, E., Brown, J. B., Cheng, C., Djebali, S., Dong, X., Ernst, J., Furey, T. S., Gerstein, M., Giardine, B., Greven, M., Hardison, R. C., Harris, R. S., Herrero, J., Hoffman, M. M., Iyer, S., Kelllis, M., Kheradpour, P., Lassman, T., Li, Q., Lin, X., Marinov, G. K., Merkel, A., Mortazavi, A., Parker, S. C., Reddy, T. E., Rozowsky, J., Schlesinger, F., Thurman, R. E., Wang, J., Ward, L. D., Whitfield, T. W., Wilder, S. P., Wu, W., Xi, H. S., Yip, K. Y., Zhuang, J., Bernstein, B. E., Green, E. D., Gunter, C., Snyder, M., Pazin, M. J., Lowdon, R. F., Dillon, L. A., Adams, L. B., Kelly, C. J., Zhang, J., Wexler, J. R., Good, P. J., Feingold, E. A., Crawford, G. E., Dekker, J., Elinitski, L., Farnham, P. J., Giddings, M. C., Gingeras, T. R., Guigo, R., Hubbard, T. J., Kellis, M., Kent, W. J., Lieb, J. D., Margulies, E. H., Myers, R. M., Starnatoyannopoulos, J. A., Tennebaum, S. A., Weng, Z., White, K. P., Wold, B., Yu, Y., Wrobel, J., Risk, B. A., Gunawardena, H. P., Kuiper, H. C., Maier, C. W., Xie, L., Chen, X., Mikkelsen, T. S., Gillespie, S., Goren, A., Ram, O., Zhang, X., Wang, L., Issner, R., Coyne, M. J., Durham, T., Ku, M., Truong, T., Eaton, M. L., Dobin, A., Lassmann, T., Tanzer, A., Lagarde, J., Lin, W., Xue, C., Williams, B. A., Zaleski, C., Roder, M., Kokocinski, F., Abdelhamid, R. F., Alioto, T., Antoshechkin, I., Baer, M. T., Batut, P., Bell, I., Bell, K., Chakrabortty, S., Chrast, J., Curado, J., Derrien, T., Drenkow, J., Dumais, E., Dumais, J., Duttagupta, R., Fastuca, M., Fejes-Toth, K., Ferreira, P., Foissac, S., Fullwood, M. J., Gao, H., Gonzalez, D., Gordon, A., Howald, C., Jha, S., Johnson, R., Kapranov, P., King, B., Kingswood, C., Li, G., Luo, O. J., Park, E., Preall, J. B., Presaud, K., Ribeca, P., Robyr, D., Ruan, X., Sammeth, M., Sandu, K. S., Schaeffer, L., See, L. H., Shahab, A., Skancke, J., Suzuki, A. M., Takahashi, H., Tilgner, H., Trout, D., Walters, N., Wang, H., Hayashizaki, Y., Reymond, A., Antonarakis, S. E., Hannon, G. J., Ruan, Y., Carninci, P., Sloan, C. A., Learned, K., Malladi, V. S., Wong, M. C., Barber, G. P., Cline, M. S., Dreszer, T. R., Heitner, S. G., Karolchik, D., Kirkup, V. M., Meyer, L. R., Long, J. C., Maddren, M., Raney, B. J., Grasfeder, L. L., Giresi, P. G., Battenhouse, A., Sheffield, N. C., Showers, K. A., London, D., Bhinge, A. A., Shestak, C., Schaner, M. R., Kim, S. K., Zhang, Z. Z., Mieczkowski, P. A., Mieczkowska, J. O., Liu, Z., McDaniell, R. M., Ni, Y., Rashid, N. U., Kim, M. J., Adar, S., Zhang, Z., Wang, T., Winter, D., Keefe, D., Iyer, V. R., Sandhu, K. S., Zheng, M., Wang, P., Gertz, J., Vielmetter, J., Partridge, E. C., Varley, K. E., Gasper, C., Bansal, A., Pepke, S., Jain, P., Amrhein, H., Bowling, K. M., Anaya, M., Cross, M. K., Muratet, M. A., Newberry, K. M., McCue, K., Nesmith, A. S., Fisher-Aylor, K. I., Pusey, B., DeSalvo, G., Parker, S. L., Balasubramanian, S., Davis, N. S., Meadows, S. K., Eggleston, T., Newberry, J. S., Levy, S. E., Absher, D. M., Wong, W. H., Blow, M. J., Visel, A., Pennachio, L. A., Elnitski, L., Petrykowska, H. M., Abyzov, A., Aken, B., Barrell, D., Barson, G., Berry, A., Bignell, A., Boychenko, V., Bussotti, G., Davidson, C., Despacio-Reyes, G., Diekhans, M., Ezkurdia, I., Frankish, A., Gilbert, J., Gonzalez, J. M., Griffiths, E., Harte, R., Hendrix, D. A., Hunt, T., Jungreis, I., Kay, M., Khurana, E., Leng, J., Lin, M. F., Loveland, J., Lu, Z., Manthravadi, D., Mariotti, M., Mudge, J., Mukherjee, G., Notredame, C., Pei, B., Rodriguez, J. M., Saunders, G., Sboner, A., Searle, S., Sisu, C., Snow, C., Steward, C., Tapanari, E., Tress, M. L., van Baren, M. J., Washieti, S., Wilming, L., Zadissa, A., Zhengdong, Z., Brent, M., Haussler, D., Valencia, A., Raymond, A., Addleman, N., Alexander, R. P., Auerbach, R. K., Bettinger, K., Bhardwaj, N., Boyle, A. P., Cao, A. R., Cayting, P., Charos, A., Cheng, Y., Eastman, C., Euskirchen, G., Fleming, J. D., Grubert, F., Habegger, L., Hariharan, M., Harmanci, A., Iyenger, S., Jin, V. X., Karczewski, K. J., Kasowski, M., Lacroute, P., Lam, H., Larnarre-Vincent, N., Lian, J., Lindahl-Allen, M., Min, R., Miotto, B., Monahan, H., Moqtaderi, Z., Mu, X. J., O'Geen, H., Ouyang, Z., Patacsil, D., Raha, D., Ramirez, L., Reed, B., Shi, M., Slifer, T., Witt, H., Wu, L., Xu, X., Yan, K. K., Yang, X., Struhl, K., Weissman, S. M., Tenebaum, S. A., Penalva, L. O., Karmakar, S., Bhanvadia, R. R., Choudhury, A., Domanus, M., Ma, L., Moran, J., Victorsen, A., Auer, T., Centarin, L., Eichenlaub, M., Gruhl, F., Heerman, S., Hoeckendorf, B., Inoue, D., Kellner, T., Kirchmaier, S., Mueller, C., Reinhardt, R., Schertel, L., Schneider, S., Sinn, R., Wittbrodt, B., Wittbrodt, J., Jain, G., Balasundaram, G., Bates, D. L., Byron, R., Canfield, T. K., Diegel, M. J., Dunn, D., Ebersol, A. K., Frum, T., Garg, K., Gist, E., Hansen, R. S., Boatman, L., Haugen, E., Humbert, R., Johnson, A. K., Johnson, E. M., Kutyavin, T. M., Lee, K., Lotakis, D., Maurano, M. T., Neph, S. J., Neri, F. V., Nguyen, E. D., Qu, H., Reynolds, A. P., Roach, V., Rynes, E., Sanchez, M. E., Sandstrom, R. S., Shafer, A. O., Stergachis, A. B., Thomas, S., Vernot, B., Vierstra, J., Vong, S., Weaver, M. A., Yan, Y., Zhang, M., Akey, J. A., Bender, M., Dorschner, M. O., Groudine, M., MacCoss, M. J., Navas, P., Stamatoyannopoulos, G., Stamatoyannopoulos, J. A., Beal, K., Brazma, A., Flicek, P., Johnson, N., Lukk, M., Luscombe, N. M., Sobral, D., Vaquerizas, J. M., Batzoglou, S., Sidow, A., Hussami, N., Kyriazopoulou-Panagiotopoulou, S., Libbrecht, M. W., Schaub, M. A., Miller, W., Bickel, P. J., Banfai, B., Boley, N. P., Huang, H., Li, J. J., Noble, W. S., Bilmes, J. A., Buske, O. J., Sahu, A. O., Kharchenko, P. V., Park, P. J., Baker, D., Taylor, J., Lochovsky, L.: An integrated encyclopedia of DNA elements in the human genome. Nature 2012, 489:57-74. URL

    Djebali, S., Davis, C. A., Merkel, A., Dobin, A., Lassmann, T., Mortazavi, A., Tanzer, A., Lagarde, J., Lin, W., Schlesinger, F., Xue, C., Marinov, G. K., Khatun, J., Williams, B. A., Zaleski, C., Rozowsky, J., Roder, M., Kokocinski, F., Abdelhamid, R. F., Alioto, T., Antoshechkin, I., Baer, M. T., Bar, N. S., Batut, P., Bell, K., Bell, I., Chakrabortty, S., Chen, X., Chrast, J., Curado, J., Derrien, T., Drenkow, J., Dumais, E., Dumais, J., Duttagupta, R., Falconnet, E., Fastuca, M., Fejes-Toth, K., Ferreira, P., Foissac, S., Fullwood, M. J., Gao, H., Gonzalez, D., Gordon, A., Gunawardena, H., Howald, C., Jha, S., Johnson, R., Kapranov, P., King, B., Kingswood, C., Luo, O. J., Park, E., Persaud, K., Preall, J. B., Ribeca, P., Risk, B., Robyr, D., Sammeth, M., Schaffer, L., See, L. H., Shahab, A., Skancke, J., Suzuki, A. M., Takahashi, H., Tilgner, H., Trout, D., Walters, N., Wang, H., Wrobel, J., Yu, Y., Ruan, X., Hayashizaki, Y., Harrow, J., Gerstein, M., Hubbard, T., Reymond, A., Antonarakis, S. E., Hannon, G., Giddings, M. C., Ruan, Y., Wold, B., Carninci, P., Guigo, R., Gingeras, T. R.: Landscape of transcription in human cells. Nature 2012, 489:101-8. URL

    Pei, B., Sisu, C., Frankish, A., Howald, C., Habegger, L., Mu, X. J., Harte, R., Balasubramanian, S., Tanzer, A., Diekhans, M., Reymond, A., Hubbard, T. J., Harrow, J., Gerstein, M. B.: The GENCODE pseudogene resource. Genome Biol 2012, 13:R51. URL

    Howald, C., Tanzer, A., Chrast, J., Kokocinski, F., Derrien, T., Walters, N., Gonzalez, J. M., Frankish, A., Aken, B. L., Hourlier, T., Vogel, J. H., White, S., Searle, S., Harrow, J., Hubbard, T. J., Guigo, R., Reymond, A.: Combining RT-PCR-seq and RNA-seq to catalog all genic elements encoded in the human genome. Genome Res 2012, 22:1698-710. URL

    Harrow, J., Frankish, A., Gonzalez, J. M., Tapanari, E., Diekhans, M., Kokocinski, F., Aken, B. L., Barrell, D., Zadissa, A., Searle, S., Barnes, I., Bignell, A., Boychenko, V., Hunt, T., Kay, M., Mukherjee, G., Rajan, J., Despacio-Reyes, G., Saunders, G., Steward, C., Harte, R., Lin, M., Howald, C., Tanzer, A., Derrien, T., Chrast, J., Walters, N., Balasubramanian, S., Pei, B., Tress, M., Rodriguez, J. M., Ezkurdia, I., van Baren, J., Brent, M., Haussler, D., Kellis, M., Valencia, A., Reymond, A., Gerstein, M., Guigo, R., Hubbard, T. J.: GENCODE: the reference human genome annotation for The ENCODE Project. Genome Res 2012, 22:1760-74. URL

    Zufferey, F., Sherr, E. H., Beckmann, N. D., Hanson, E., Maillard, A. M., Hippolyte, L., Mace, A., Ferrari, C., Kutalik, Z., Andrieux, J., Aylward, E., Barker, M., Bernier, R., Bouquillon, S., Conus, P., Delobel, B., Faucett, W. A., Goin-Kochel, R. P., Grant, E., Harewood, L., Hunter, J. V., Lebon, S., Ledbetter, D. H., Martin, C. L., Mannik, K., Martinet, D., Mukherjee, P., Ramocki, M. B., Spence, S. J., Steinman, K. J., Tjernagel, J., Spiro, J. E., Reymond, A., Beckmann, J. S., Chung, W. K., Jacquemont, S.: A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders. J Med Genet 2012, 49:660-8. URL

    Golzio, C., Willer, J., Talkowski, M. E., Oh, E. C., Taniguchi, Y., Jacquemont, S., Reymond, A., Sun, M., Sawa, A., Gusella, J. F., Kamiya, A., Beckmann, J. S., Katsanis, N.: KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant. Nature 2012, 485:363-7. URL

    Rashidi-Nezhad, A., Parvaneh, N., Farzanfar, F., Azimi, C., Harewood, L., Akrami, S. M., Reymond, A.: 2q34-qter duplication and 4q34.2-qter deletion in a patient with developmental delay. Eur J Med Genet 2012, 55:203-10. URL

    Hu, B., Castillo, E., Harewood, L., Ostano, P., Reymond, A., Dummer, R., Raffoul, W., Hoetzenecker, W., Hofbauer, G. F., Dotto, G. P.: Multifocal Epithelial Tumors and Field Cancerization from Loss of Mesenchymal CSL Signaling. Cell 2012, 149:1207-20. URL

    Micale, L., Loviglio, M. N., Manzoni, M., Fusco, C., Augello, B., Migliavacca, E., Cotugno, G., Monti, E., Borsani, G., Reymond, A., Merla, G.: A fish-specific transposable element shapes the repertoire of p53 target genes in zebrafish. PLoS One 2012, 7:e46642. URL

    Micale, L., Chaignat, E., Fusco, C., Reymond, A., Merla, G.: The tripartite motif: structure and function. Adv Exp Med Biol 2012, 770:11-25. URL

    Harewood, L., Chaignat, E., Reymond, A.: Structural variation and its effect on expression. Methods Mol Biol 2012, 838:173-86. URL

    Gheldof, N., Leleu, M., Noordermeer, D., Rougemont, J., Reymond, A.: Detecting long-range chromatin interactions using the chromosome conformation capture sequencing (4C-seq) method. Methods Mol Biol 2012, 786:211-25. URL

    Fusco, C., Micale, L., Egorov, M., Monti, M., D'Addetta, E. V., Augello, B., Cozzolino, F., Calcagni, A., Fontana, A., Polishchuk, R. S., Didelot, G., Reymond, A., Pucci, P., Merla, G.: The E3-Ubiquitin Ligase TRIM50 Interacts with HDAC6 and p62, and Promotes the Sequestration and Clearance of Ubiquitinated Proteins into the Aggresome. PLoS One 2012, 7:e40440. URL

    Djebali, S., Lagarde, J., Kapranov, P., Lacroix, V., Borel, C., Mudge, J. M., Howald, C., Foissac, S., Ucla, C., Chrast, J., Ribeca, P., Martin, D., Murray, R. R., Yang, X., Ghamsari, L., Lin, C., Bell, I., Dumais, E., Drenkow, J., Tress, M. L., Gelpi, J. L., Orozco, M., Valencia, A., van Berkum, N. L., Lajoie, B. R., Vidal, M., Stamatoyannopoulos, J., Batut, P., Dobin, A., Harrow, J., Hubbard, T., Dekker, J., Frankish, A., Salehi-Ashtiani, K., Reymond, A., Antonarakis, S. E., Guigo, R., Gingeras, T. R.: Evidence for Transcript Networks Composed of Chimeric RNAs in Human Cells. PLoS One 2012, 7:e28213. URL

2011
    Jacquemont, S., Reymond, A., Zufferey, F., Harewood, L., Walters, R. G., Kutalik, Z., Martinet, D., Shen, Y., Valsesia, A., Beckmann, N. D., Thorleifsson, G., Belfiore, M., Bouquillon, S., Campion, D., de Leeuw, N., de Vries, B. B., Esko, T., Fernandez, B. A., Fernandez-Aranda, F., Fernandez-Real, J. M., Gratacos, M., Guilmatre, A., Hoyer, J., Jarvelin, M. R., Kooy, R. F., Kurg, A., Le Caignec, C., Mannik, K., Platt, O. S., Sanlaville, D., Van Haelst, M. M., Villatoro Gomez, S., Walha, F., Wu, B. L., Yu, Y., Aboura, A., Addor, M. C., Alembik, Y., Antonarakis, S. E., Arveiler, B., Barth, M., Bednarek, N., Bena, F., Bergmann, S., Beri, M., Bernardini, L., Blaumeiser, B., Bonneau, D., Bottani, A., Boute, O., Brunner, H. G., Cailley, D., Callier, P., Chiesa, J., Chrast, J., Coin, L., Coutton, C., Cuisset, J. M., Cuvellier, J. C., David, A., de Freminville, B., Delobel, B., Delrue, M. A., Demeer, B., Descamps, D., Didelot, G., Dieterich, K., Disciglio, V., Doco-Fenzy, M., Drunat, S., Duban-Bedu, B., Dubourg, C., El-Sayed Moustafa, J. S., Elliott, P., Faas, B. H., Faivre, L., Faudet, A., Fellmann, F., Ferrarini, A., Fisher, R., Flori, E., Forer, L., Gaillard, D., Gerard, M., Gieger, C., Gimelli, S., Gimelli, G., Grabe, H. J., Guichet, A., Guillin, O., Hartikainen, A. L., Heron, D., Hippolyte, L., Holder, M., Homuth, G., Isidor, B., Jaillard, S., Jaros, Z., Jimenez-Murcia, S., Helas, G. J., Jonveaux, P., Kaksonen, S., Keren, B., Kloss-Brandstatter, A., Knoers, N. V., Koolen, D. A., Kroisel, P. M., Kronenberg, F., Labalme, A., Landais, E., Lapi, E., Layet, V., Legallic, S., Leheup, B., Leube, B., Lewis, S., Lucas, J., MacDermot, K. D., Magnusson, P., Marshall, C., Mathieu-Dramard, M., McCarthy, M. I., Meitinger, T., Mencarelli, M. A., Merla, G., Moerman, A., Mooser, V., Morice-Picard, F., Mucciolo, M., Nauck, M., Ndiaye, N. C., Nordgren, A., Pasquier, L., Petit, F., Pfundt, R., Plessis, G., Rajcan-Separovic, E., Ramelli, G. P., Rauch, A., Ravazzolo, R., Reis, A., Renieri, A., Richart, C., Ried, J. S., Rieubland, C., Roberts, W., Roetzer, K. M., Rooryck, C., Rossi, M., Saemundsen, E., Satre, V., Schurmann, C., Sigurdsson, E., Stavropoulos, D. J., Stefansson, H., Tengstrom, C., Thorsteinsdottir, U., Tinahones, F. J., Touraine, R., Vallee, L., van Binsbergen, E., Van der Aa, N., Vincent-Delorme, C., Visvikis-Siest, S., Vollenweider, P., Volzke, H., Vulto-van Silfhout, A. T., Waeber, G., Wallgren-Pettersson, C., Witwicki, R. M., Zwolinksi, S., Andrieux, J., Estivill, X., Gusella, J. F., Gustafsson, O., Metspalu, A., Scherer, S. W., Stefansson, K., Blakemore, A. I., Beckmann, J. S., Froguel, P.: Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus. Nature 2011, 478:97-102. URL

    Mudge, J. M., Frankish, A., Fernandez-Banet, J., Alioto, T., Derrien, T., Howald, C., Reymond, A., Guigo, R., Hubbard, T., Harrow, J.: The origins, evolution, and functional potential of alternative splicing in vertebrates. Mol Biol Evol 2011, 28:2949-59. URL

    Chaignat, E., Yahya-Graison, E. A., Henrichsen, C. N., Chrast, J., Schutz, F., Pradervand, S., Reymond, A.: Copy number variation modifies expression time courses. Genome Res 2011, 21:106-13. URL

    Myers, R. M., Stamatoyannopoulos, J., Snyder, M., Dunham, I., Hardison, R. C., Bernstein, B. E., Gingeras, T. R., Kent, W. J., Birney, E., Wold, B., Crawford, G. E.: A user's guide to the encyclopedia of DNA elements (ENCODE). PLoS Biol 2011, 9:e1001046. URL

    Micale, L., Augello, B., Fusco, C., Selicorni, A., Loviglio, M. N., Silengo, M. C., Reymond, A., Gumiero, B., Zucchetti, F., D'Addetta, E. V., Belligni, E., Calcagni, A., Digilio, M. C., Dallapiccola, B., Faravelli, F., Forzano, F., Accadia, M., Bonfante, A., Clementi, M., Daolio, C., Douzgou, S., Ferrari, P., Fischetto, R., Garavelli, L., Lapi, E., Mattina, T., Melis, D., Patricelli, M. G., Priolo, M., Prontera, P., Renieri, A., Mencarelli, M. A., Scarano, G., Monica, M. D., Toschi, B., Turolla, L., Vancini, A., Zatterale, A., Gabrielli, O., Zelante, L., Merla, G.: Mutation spectrum of MLL2 in a cohort of kabuki syndrome patients. Orphanet J Rare Dis 2011, 6:38. URL

    Henrichsen, C. N., Csardi, G., Zabot, M. T., Fusco, C., Bergmann, S., Merla, G., Reymond, A.: Using transcription modules to identify expression clusters perturbed in williams-beuren syndrome. PLoS Comput Biol 2011, 7:e1001054. URL

    Diez-Roux, G., Banfi, S., Sultan, M., Geffers, L., Anand, S., Rozado, D., Magen, A., Canidio, E., Pagani, M., Peluso, I., Lin-Marq, N., Koch, M., Bilio, M., Cantiello, I., Verde, R., De Masi, C., Bianchi, S. A., Cicchini, J., Perroud, E., Mehmeti, S., Dagand, E., Schrinner, S., Nurnberger, A., Schmidt, K., Metz, K., Zwingmann, C., Brieske, N., Springer, C., Hernandez, A. M., Herzog, S., Grabbe, F., Sieverding, C., Fischer, B., Schrader, K., Brockmeyer, M., Dettmer, S., Helbig, C., Alunni, V., Battaini, M. A., Mura, C., Henrichsen, C. N., Garcia-Lopez, R., Echevarria, D., Puelles, E., Garcia-Calero, E., Kruse, S., Uhr, M., Kauck, C., Feng, G., Milyaev, N., Ong, C. K., Kumar, L., Lam, M., Semple, C. A., Gyenesei, A., Mundlos, S., Radelof, U., Lehrach, H., Sarmientos, P., Reymond, A., Davidson, D. R., Dolle, P., Antonarakis, S. E., Yaspo, M. L., Martinez, S., Baldock, R. A., Eichele, G., Ballabio, A.: A high-resolution anatomical atlas of the transcriptome in the mouse embryo. PLoS Biol 2011, 9:e1000582. URL

2010
    Harewood, L., Schutz, F., Boyle, S., Perry, P., Delorenzi, M., Bickmore, W. A., Reymond, A.: The effect of translocation-induced nuclear reorganization on gene expression. Genome Res 2010, 20:554-64. URL

    Gimelli, S., Chrast, J., Baban, A., Henrichsen, C. N., Lerone, M., Zuffardi, O., Gimelli, G., Reymond, A.: A t(7;12) balanced translocation with breakpoints overlapping those of the Williams-Beuren and 12q14 microdeletion syndromes. Am J Med Genet A 2010, 152A:1285-94. URL

    Ferrero, G. B., Howald, C., Micale, L., Biamino, E., Augello, B., Fusco, C., Turturo, M. G., Forzano, S., Reymond, A., Merla, G.: An atypical 7q11.23 deletion in a normal IQ Williams-Beuren syndrome patient. Eur J Hum Genet 2010, 18:33-8. URL

    Walters, R. G., Jacquemont, S., Valsesia, A., de Smith, A. J., Martinet, D., Andersson, J., Falchi, M., Chen, F., Andrieux, J., Lobbens, S., Delobel, B., Stutzmann, F., El-Sayed Moustafa, J. S., Chevre, J. C., Lecoeur, C., Vatin, V., Bouquillon, S., Buxton, J. L., Boute, O., Holder-Espinasse, M., Cuisset, J. M., Lemaitre, M. P., Ambresin, A. E., Brioschi, A., Gaillard, M., Giusti, V., Fellmann, F., Ferrarini, A., Hadjikhani, N., Campion, D., Guilmatre, A., Goldenberg, A., Calmels, N., Mandel, J. L., Le Caignec, C., David, A., Isidor, B., Cordier, M. P., Dupuis-Girod, S., Labalme, A., Sanlaville, D., Beri-Dexheimer, M., Jonveaux, P., Leheup, B., Ounap, K., Bochukova, E. G., Henning, E., Keogh, J., Ellis, R. J., Macdermot, K. D., van Haelst, M. M., Vincent-Delorme, C., Plessis, G., Touraine, R., Philippe, A., Malan, V., Mathieu-Dramard, M., Chiesa, J., Blaumeiser, B., Kooy, R. F., Caiazzo, R., Pigeyre, M., Balkau, B., Sladek, R., Bergmann, S., Mooser, V., Waterworth, D., Reymond, A., Vollenweider, P., Waeber, G., Kurg, A., Palta, P., Esko, T., Metspalu, A., Nelis, M., Elliott, P., Hartikainen, A. L., McCarthy, M. I., Peltonen, L., Carlsson, L., Jacobson, P., Sjostrom, L., Huang, N., Hurles, M. E., O'Rahilly, S., Farooqi, I. S., Mannik, K., Jarvelin, M. R., Pattou, F., Meyre, D., Walley, A. J., Coin, L. J., Blakemore, A. I., Froguel, P., Beckmann, J. S.: A new highly penetrant form of obesity due to deletions on chromosome 16p11.2. Nature 2010, 463:671-5. URL

    Ricard, G., Molina, J., Chrast, J., Gu, W., Gheldof, N., Pradervand, S., Schutz, F., Young, J. I., Lupski, J. R., Reymond, A., Walz, K.: Phenotypic consequences of copy number variation: insights from Smith-Magenis and Potocki-Lupski syndrome mouse models. PLoS Biol 2010, 8:e1000543. URL

2009
    Makrythanasis, P., Kapranov, P., Bartoloni, L., Reymond, A., Deutsch, S., Guigo, R., Denoeud, F., Drenkow, J., Rossier, C., Ariani, F., Capra, V., Excoffier, L., Renieri, A., Gingeras, T. R., Antonarakis, S. E.: Variation in Novel Exons (RACEfrags) of the MECP2 Gene in Rett Syndrome Patients and Controls. Hum Mutat 2009, 30:E866-79. URL

    Harrow, J., Nagy, A., Reymond, A., Alioto, T., Patthy, L., Antonarakis, S. E., Guigo, R.: Identifying protein-coding genes in genomic sequences. Genome Biol 2009, 10:201. URL

    Bovine_Genome_Sequencing_and_Analysis_Consortium, authors_from_the_CIG:, Reymond, A., Chrast, J., Henrichsen, C. N.: The genome sequence of taurine cattle: a window to ruminant biology and evolution. Science 2009, 324:522-8. URL

    Henrichsen, C. N., Chaignat, E., Reymond, A.: Copy number variants, diseases and gene expression. Hum Mol Genet 2009, 18:R1-8. URL

    Henrichsen*, C. N., Vinckenbosch*, N., Zollner, S., Chaignat, E., Pradervand, S., Schutz, F., Ruedi, M., Kaessmann, H., Reymond, A.: Segmental copy number variation shapes tissue transcriptomes. Nat Genet 2009, 41:424-9. URL

2008
    Micale, L., Fusco, C., Augello, B., Napolitano, L. M., Dermitzakis, E. T., Meroni, G., Merla, G., Reymond, A.: Williams-Beuren syndrome TRIM50 encodes an E3 ubiquitin ligase. Eur J Hum Genet 2008, 16:1038-49. URL

    Marshall*, C. R., Young*, E. J., Pani, A. M., Freckmann, M. L., Lacassie, Y., Howald, C., Fitzgerald, K. K., Peippo, M., Morris, C. A., Shane, K., Priolo, M., Morimoto, M., Kondo, I., Manguoglu, E., Berker-Karauzum, S., Edery, P., Hobart, H. H., Mervis, C. B., Zuffardi, O., Reymond, A., Kaplan, P., Tassabehji, M., Gregg, R. G., Scherer, S. W., Osborne, L. R.: Infantile spasms is associated with deletion of the MAGI2 gene on chromosome 7q11.23-q21.11. Am J Hum Genet 2008, 83:106-11. URL

    Djebali*, S., Kapranov*, P., Foissac*, S., Lagarde*, J., Reymond*, A., Ucla, C., Wyss, C., Drenkow, J., Dumais, E., Murray, R. R., Lin, C., Szeto, D., Denoeud, F., Calvo, M., Frankish, A., Harrow, J., Makrythanasis, P., Vidal, M., Salehi-Ashtiani, K., Antonarakis, S. E., Gingeras, T. R., Guigo, R.: Efficient targeted transcript discovery via array-based normalization of RACE libraries. Nat Methods 2008, 5:629-35. URL

    Attanasio, C., Reymond, A., Humbert, R., Lyle, R., Kuehn, M. S., Neph, S., Sabo, P. J., Goldy, J., Weaver, M., Lee, K., Haydock, A., Dermitzakis, E. T., Dorschner, M. O., Antonarakis, S. E., Stamatoyannopoulos, J. A.: Assaying the regulatory potential of mammalian conserved non-coding sequences in human cells. Genome Biol 2008, 9:R168. URL

    Molina, J., Carmona-Mora, P., Chrast, J., Krall, P. M., Canales, C. P., Lupski, J. R., Reymond, A., Walz, K.: Abnormal social behaviors and altered gene expression rates in a mouse model for Potocki-Lupski syndrome. Hum Mol Genet 2008, 17:2486-95. URL

2007
    Reymond, A., Henrichsen, C. N., Harewood, L., Merla, G.: Side effects of genome structural changes. Curr Opin Genet Dev 2007, 17:381-6. URL

    Reymond, A., Henrichsen, C. N., Harewood, L., Merla, G.: Side effects of genome structural changes. Curr Opin Genet Dev 2007, 17:381-6. URL

    Lyle*, R., Prandini*, P., Osoegawa, K., ten Hallers, B., Humphray, S., Zhu, B., Eyras, E., Castelo, R., Bird, C. P., Gagos, S., Scott, C., Cox, A., Deutsch, S., Ucla, C., Cruts, M., Dahoun, S., She, X., Bena, F., Wang, S. Y., Van Broeckhoven, C., Eichler, E. E., Guigo, R., Rogers, J., de Jong, P. J., Reymond, A., Antonarakis, S. E.: Islands of euchromatin-like sequence and expressed polymorphic sequences within the short arm of human chromosome 21. Genome Res 2007, 17:1690-6. URL

    Tress, M. L., Martelli, P. L., Frankish, A., Reeves, G. A., Wesselink, J. J., Yeats, C., Olason, P. L., Albrecht, M., Hegyi, H., Giorgetti, A., Raimondo, D., Lagarde, J., Laskowski, R. A., Lopez, G., Sadowski, M. I., Watson, J. D., Fariselli, P., Rossi, I., Nagy, A., Kai, W., Storling, Z., Orsini, M., Assenov, Y., Blankenburg, H., Huthmacher, C., Ramirez, F., Schlicker, A., Denoeud, F., Jones, P., Kerrien, S., Orchard, S., Antonarakis, S. E., Reymond, A., Birney, E., Brunak, S., Casadio, R., Guigo, R., Harrow, J., Hermjakob, H., Jones, D. T., Lengauer, T., A. Orengo C, Patthy, L., Thornton, J. M., Tramontano, A., Valencia, A.: The implications of alternative splicing in the ENCODE protein complement. Proc Natl Acad Sci U S A 2007, 104:5495-500. URL

    ENCODE_Consortium, authors_from_the_CIG:, Reymond, A., Chrast, J., Henrichsen, C. N.: Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project. Nature 2007, 447:799-816. URL

    Zheng, D., Frankish, A., Baertsch, R., Kapranov, P., Reymond, A., Choo, S. W., Lu, Y., Denoeud, F., Antonarakis, S. E., Snyder, M., Ruan, Y., Wei, C. L., Gingeras, T. R., Guigo, R., Harrow, J., Gerstein, M. B.: Pseudogenes in the ENCODE regions: consensus annotation, analysis of transcription, and evolution. Genome Res 2007, 17:839-51. URL

    Washietl, S., Pedersen, J. S., Korbel, J. O., Stocsits, C., Gruber, A. R., Hackermuller, J., Hertel, J., Lindemeyer, M., Reiche, K., Tanzer, A., Ucla, C., Wyss, C., Antonarakis, S. E., Denoeud, F., Lagarde, J., Drenkow, J., Kapranov, P., Gingeras, T. R., Guigo, R., Snyder, M., Gerstein, M. B., Reymond, A., Hofacker, I. L., Stadler, P. F.: Structured RNAs in the ENCODE selected regions of the human genome. Genome Res 2007, 17:852-64. URL

    Denoeud*, F., Kapranov*, P., Ucla, C., Frankish, A., Castelo, R., Drenkow, J., Lagarde, J., Alioto, T., Manzano, C., Chrast, J., Dike, S., Wyss, C., Henrichsen, C. N., Holroyd, N., Dickson, M. C., Taylor, R., Hance, Z., Foissac, S., Myers, R. M., Rogers, J., Hubbard, T., Harrow, J., Guigo, R., Gingeras, T. R., Antonarakis, S. E., Reymond, A.: Prominent use of distal 5' transcription start sites and discovery of a large number of additional exons in ENCODE regions. Genome Res 2007, 17:746-59. URL

2006
    Howald*, C., Merla*, G., Digilio, M. C., Amenta, S., Lyle, R., Deutsch, S., Choudhury, U., Bottani, A., Antonarakis, S. E., Fryssira, H., Dallapiccola, B., Reymond, A.: Two high throughput technologies to detect segmental aneuploidies identify new Williams-Beuren syndrome patients with atypical deletions. J Med Genet 2006, 43:266-73. URL

    Parra, G., Reymond, A., Dabbouseh, N., Dermitzakis, E. T., Castelo, R., Thomson, T. M., Antonarakis, S. E., Guigo, R.: Tandem chimerism as a means to increase protein complexity in the human genome. Genome Res 2006, 16:37-44. URL

    Drake, J. A., Bird, C., Nemesh, J., Thomas, D. J., Newton-Cheh, C., Reymond, A., Excoffier, L., Attar, H., Antonarakis, S. E., Dermitzakis, E. T., Hirschhorn, J. N.: Conserved noncoding sequences are selectively constrained and not mutation cold spots. Nat Genet 2006, 38:223-7. URL

    Merla, G., Howald, C., Henrichsen, C. N., Lyle, R., Wyss, C., Zabot, M. T., Antonarakis, S. E., Reymond, A.: Submicroscopic deletion in patients with Williams-Beuren syndrome influences expression levels of the nonhemizygous flanking genes. Am J Hum Genet 2006, 79:332-41. URL

    Harrow*, J., Denoeud*, F., Frankish*, A., Reymond, A., Chen, C. K., Chrast, J., Lagarde, J., Gilbert, J. G., Storey, R., Swarbreck, D., Rossier, C., Ucla, C., Hubbard, T., Antonarakis, S. E., Guigo, R.: GENCODE: producing a reference annotation for ENCODE. Genome Biol 2006, 7 Suppl 1:S4 1-9. URL

    Guigo*, R., Flicek*, P., Abril*, J. F., Reymond, A., Lagarde, J., Denoeud, F., Antonarakis, S., Ashburner, M., Bajic, V. B., Birney, E., Castelo, R., Eyras, E., Ucla, C., Gingeras, T. R., Harrow, J., Hubbard, T., Lewis, S. E., Reese*, M. G.: EGASP: the human ENCODE Genome Annotation Assessment Project. Genome Biol 2006, 7 Suppl 1:S2 1-31. URL

    Deutsch, S., Reymond, A.: The future is genome-wide. Genome Biol 2006, 7:324. URL

2005
    Wattenhofer, M., Sahin-Calapoglu, N., Andreasen, D., Kalay, E., Caylan, R., Braillard, B., Fowler-Jaeger, N., Reymond, A., Rossier, B. C., Karaguzel, A., Antonarakis, S. E.: A novel TMPRSS3 missense mutation in a DFNB8/10 family prevents proteolytic activation of the protein. Hum Genet 2005, 117:528-35. URL

    Bonafe, L., Dermitzakis, E. T., Unger, S., Greenberg, C. R., Campos-Xavier, B. A., Zankl, A., Ucla, C., Antonarakis, S. E., Superti-Furga, A., Reymond, A.: Evolutionary comparison provides evidence for pathogenicity of RMRP mutations. PLoS Genet 2005, 1:e47. URL

    Marques*, A. C., Dupanloup*, I., Vinckenbosch, N., Reymond, A., Kaessmann, H.: Emergence of young human genes after a burst of retroposition in primates. PLoS Biol 2005, 3:e357. URL

    Wattenhofer, M., Reymond, A., Falciola, V., Charollais, A., Caille, D., Borel, C., Lyle, R., Estivill, X., Petersen, M. B., Meda, P., Antonarakis, S. E.: Different mechanisms preclude mutant CLDN14 proteins from forming tight junctions in vitro. Hum Mutat 2005, 25:543-9. URL

    Dermitzakis, E. T., Reymond, A., Antonarakis, S. E.: Conserved non-genic sequences - an unexpected feature of mammalian genomes. Nat Rev Genet 2005, 6:151-7. URL

    Mehenni, H., Lin-Marq, N., Buchet-Poyau, K., Reymond, A., Collart, M. A., Picard, D., Antonarakis, S. E.: LKB1 interacts with and phosphorylates PTEN: a functional link between two proteins involved in cancer predisposing syndromes. Hum Mol Genet 2005, 14:2209-19. URL

    Eyras, E., Reymond, A., Castelo, R., Bye, J. M., Camara, F., Flicek, P., Huckle, E. J., Parra, G., Shteynberg, D. D., Wyss, C., Rogers, J., Antonarakis, S. E., Birney, E., Guigo, R., Brent, M. R.: Gene finding in the chicken genome. BMC Bioinformatics 2005, 6:131. URL

    Castelo, R., Reymond, A., Wyss, C., Camara, F., Parra, G., Antonarakis, S. E., Guigo, R., Eyras, E.: Comparative gene finding in chicken indicates that we are closing in on the set of multi-exonic widely expressed human genes. Nucleic Acids Res 2005, 33:1935-9. URL

2004
    ENCODE_Consortium, author_from_the_CIG:, Reymond, A.: The ENCODE (ENCyclopedia Of DNA Elements) Project. Science 2004, 306:636-40. URL

    Antonarakis, S. E., Lyle, R., Dermitzakis, E. T., Reymond, A., Deutsch, S.: Chromosome 21 and down syndrome: from genomics to pathophysiology. Nat Rev Genet 2004, 5:725-38. URL

    Dermitzakis, E. T., Kirkness, E., Schwarz, S., Birney, E., Reymond, A., Antonarakis, S. E.: Comparison of human chromosome 21 conserved nongenic sequences (CNGs) with the mouse and dog genomes shows that their selective constraint is independent of their genic environment. Genome Res 2004, 14:852-9. URL

    Merla, G., Howald, C., Antonarakis, S. E., Reymond, A.: The subcellular localization of the ChoRE-binding protein, encoded by the Williams-Beuren syndrome critical region gene 14, is regulated by 14-3-3. Hum Mol Genet 2004, 13:1505-14. URL

    Menzel, O., Bekkeheien, R. C., Reymond, A., Fukai, N., Boye, E., Kosztolanyi, G., Aftimos, S., Deutsch, S., Scott, H. S., Olsen, B. R., Antonarakis, S. E., Guipponi, M.: Knobloch syndrome: novel mutations in COL18A1, evidence for genetic heterogeneity, and a functionally impaired polymorphism in endostatin. Hum Mutat 2004, 23:77-84. URL

    International Chicken Genome Sequencing Consortium _CIG_Members: Kaessmann, H., Reymond, A.: Sequence and comparative analysis of the chicken genome provide unique perspectives on vertebrate evolution. Nature 2004, 432:695-716. URL

    Menzel, O., Vellai, T., Takacs-Vellai, K., Reymond, A., Mueller, F., Antonarakis, S. E., Guipponi, M.: The Caenorhabditis elegans ortholog of C21orf80, a potential new protein O-fucosyltransferase, is required for normal development. Genomics 2004, 84:320-30. URL

    Dermitzakis, E. T., Reymond, A.: DNA sequence evolution and phylogenetic footprinting In Mammalian genomics Edited by Ruvinsky, A., Marshall Graves, J. A.; CABI Publishing; 2004: 301-16.

2003
    Friedli, M., Guipponi, M., Bertrand, S., Bertrand, D., Neerman-Arbez, M., Scott, H. S., Antonarakis, S. E., Reymond, A.: Identification of a novel member of the CLIC family, CLIC6, mapping to 21q22.12. Gene 2003, 320:31-40. URL

    Dermitzakis, E. T., Reymond, A., Scamuffa, N., Ucla, C., Kirkness, E., Rossier, C., Antonarakis, S. E.: Evolutionary discrimination of mammalian conserved non-genic sequences (CNGs). Science 2003, 302:1033-5. URL

    Guigo, R., Dermitzakis, E. T., Agarwal, P., Ponting, C. P., Parra, G., Reymond, A., Abril, J. F., Keibler, E., Lyle, R., Ucla, C., Antonarakis, S. E., Brent, M. R.: Comparison of mouse and human genomes followed by experimental verification yields an estimated 1,019 additional genes. Proc Natl Acad Sci U S A 2003, 100:1140-5. URL

    Tapparel, C., Reymond, A., Girardet, C., Guillou, L., Lyle, R., Lamon, C., Hutter, P., Antonarakis, S. E.: The TPTE gene family: cellular expression, subcellular localization and alternative splicing. Gene 2003, 323:189-99. URL

    Antonarakis, S. E., Reymond, A., Lyle, R., Deutsch, S., Dermitzakis, E. T.: Chromosome 21 and Down syndrome: the post-sequence era. Cold Spring Harb Symp Quant Biol 2003, 68:425-30. URL

2002
    Guipponi, M., Vuagniaux, G., Wattenhofer, M., Shibuya, K., Vazquez, M., Dougherty, L., Scamuffa, N., Guida, E., Okui, M., Rossier, C., Hancock, M., Buchet, K., Reymond, A., Hummler, E., Marzella, P. L., Kudoh, J., Shimizu, N., Scott, H. S., Antonarakis, S. E., Rossier, B. C.: The transmembrane serine protease (TMPRSS3) mutated in deafness DFNB8/10 activates the epithelial sodium channel (ENaC) in vitro. Hum Mol Genet 2002, 11:2829-36. URL

    Merla, G., Ucla, C., Guipponi, M., Reymond, A.: Identification of additional transcripts in the Williams-Beuren syndrome critical region. Hum Genet 2002, 110:429-38. URL

    Berti, C., Messali, S., Ballabio, A., Reymond, A., Meroni, G.: TRIM9 is specifically expressed in the embryonic and adult nervous system. Mech Dev 2002, 113:159-62. URL

    Reymond, A., Camargo, A. A., Deutsch, S., Stevenson, B. J., Parmigiani, R. B., Ucla, C., Bettoni, F., Rossier, C., Lyle, R., Guipponi, M., de Souza, S., Iseli, C., Jongeneel, C. V., Bucher, P., Simpson, A. J., Antonarakis, S. E.: Nineteen additional unpredicted transcripts from human chromosome 21. Genomics 2002, 79:824-32. URL

    Antonarakis, S. E., Lyle, R., Deutsch, S., Reymond, A.: Chromosome 21: a small land of fascinating disorders with unknown pathophysiology. Int J Dev Biol 2002, 46:89-96. URL

    Reymond, A., Marigo, V., Yaylaoglu, M. B., Leoni, A., Ucla, C., Scamuffa, N., Caccioppoli, C., Dermitzakis, E. T., Lyle, R., Banfi, S., Eichele, G., Antonarakis, S. E., Ballabio, A.: Human chromosome 21 gene expression atlas in the mouse. Nature 2002, 420:582-6. URL

    Mouse_Genome_Sequencing_Consortium, with: , Reymond, A.: Initial sequencing and comparative analysis of the mouse genome. Nature 2002, 420:520-62. URL

    Dermitzakis, E. T., Reymond, A., Lyle, R., Scamuffa, N., Ucla, C., Deutsch, S., Stevenson, B. J., Flegel, V., Bucher, P., Jongeneel, C. V., Antonarakis, S. E.: Numerous potentially functional but non-genic conserved sequences on human chromosome 21. Nature 2002, 420:578-82. URL

2001
    Forus, A., D'Angelo, A., Henriksen, J., Merla, G., Maelandsmo, G. M., Florenes, V. A., Olivieri, S., Bjerkehagen, B., Meza-Zepeda, L. A., del Vecchio Blanco, F., Muller, C., Sanvito, F., Kononen, J., Nesland, J. M., Fodstad, O., Reymond, A., Kallioniemi, O. P., Arrigoni, G., Ballabio, A., Myklebost, O., Zollo, M.: Amplification and overexpression of PRUNE in human sarcomas and breast carcinomas-a possible mechanism for altering the nm23-H1 activity. Oncogene 2001, 20:6881-90. URL

    Reymond, A., Friedli, M., Henrichsen, C. N., Chapot, F., Deutsch, S., Ucla, C., Rossier, C., Lyle, R., Guipponi, M., Antonarakis, S. E.: From PREDs and open reading frames to cDNA isolation: revisiting the human chromosome 21 transcription map. Genomics 2001, 78:46-54. URL

    Reymond, A., Meroni, G., Fantozzi, A., Merla, G., Cairo, S., Luzi, L., Riganelli, D., Zanaria, E., Messali, S., Cainarca, S., Guffanti, A., Minucci, S., Pelicci, P. G., Ballabio, A.: The tripartite motif family identifies cell compartments. Embo J 2001, 20:2140-51. URL

    Cairo, S., Merla, G., Urbinati, F., Ballabio, A., Reymond, A.: WBSCR14, a gene mapping to the Williams--Beuren syndrome deleted region, is a new member of the Mlx transcription factor network. Hum Mol Genet 2001, 10:617-27. URL

    Guipponi, M., Tapparel, C., Jousson, O., Scamuffa, N., Mas, C., Rossier, C., Hutter, P., Meda, P., Lyle, R., Reymond, A., Antonarakis, S. E.: The murine orthologue of the Golgi-localized TPTE protein provides clues to the evolutionary history of the human TPTE gene family. Hum Genet 2001, 109:569-75. URL

2000
    Meroni, G., Cairo, S., Merla, G., Messali, S., Brent, R., Ballabio, A., Reymond, A.: Mlx, a new Max-like bHLHZip family member: the center stage of a novel transcription factors regulatory pathway?. Oncogene 2000, 19:3266-77. URL

1999
    Reymond, A., Volorio, S., Merla, G., Al-Maghtheh, M., Zuffardi, O., Bulfone, A., Ballabio, A., Zollo, M.: Evidence for interaction between human PRUNE and nm23-H1 NDPKinase. Oncogene 1999, 18:7244-52. URL

1998
    Fusco, C., Reymond, A., Zervos, A. S.: Molecular cloning and characterization of a novel retinoblastoma-binding protein. Genomics 1998, 51:351-8. URL

    Nigro, C. L., Venesio, T., Reymond, A., Meroni, G., Alberici, P., Cainarca, S., Enrico, F., Stack, M., Ledbetter, D. H., Liscia, D. S., Ballabio, A., Carrozzo, R.: The human ROX gene: genomic structure and mutation analysis in human breast tumors. Genomics 1998, 49:275-82. URL

1997
    Meroni, G., Reymond, A., Alcalay, M., Borsani, G., Tanigami, A., Tonlorenzi, R., Nigro, C. L., Messali, S., Zollo, M., Ledbetter, D. H., Brent, R., Ballabio, A., Carrozzo, R.: Rox, a novel bHLHZip protein expressed in quiescent cells that heterodimerizes with Max, binds a non-canonical E box and acts as a transcriptional repressor. Embo J 1997, 16:2892-906. URL

1995
    Reymond, A., Brent, R.: p16 proteins from melanoma-prone families are deficient in binding to Cdk4. Oncogene 1995, 11:1173-8. URL

    Fankhauser, C., Reymond, A., Cerutti, L., Utzig, S., Hofmann, K., Simanis, V.: The S. pombe cdc15 gene is a key element in the reorganization of F-actin at mitosis. Cell 1995, 82:435-44. URL

1993
    Reymond, A., Marks, J., Simanis, V.: The activity of S.pombe DSC-1-like factor is cell cycle regulated and dependent on the activity of p34cdc2. Embo J 1993, 12:4325-34. URL

    Fankhauser, C., Marks, J., Reymond, A., Simanis, V.: The S. pombe cdc16 gene is required both for maintenance of p34cdc2 kinase activity and regulation of septum formation: a link between mitosis and cytokinesis?. Embo J 1993, 12:2697-704. URL

    Reymond, A., Simanis, V.: Domains of p85cdc10 required for function of the fission yeast DSC-1 factor. Nucleic Acids Res 1993, 21:3615-21. URL

1992
    Reymond, A., Schmidt, S., Simanis, V.: Mutations in the cdc10 start gene of Schizosaccharomyces pombe implicate the region of homology between cdc10 and SWI6 as important for p85cdc10 function. Mol Gen Genet 1992, 234:449-56. URL

    Marks, J., Fankhauser, C., Reymond, A., Simanis, V.: Cytoskeletal and DNA structure abnormalities result from bypass of requirement for the cdc10 start gene in the fission yeast Schizosaccharomyces pombe. J Cell Sci 1992, 101 ( Pt 3):517-28. URL
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