Evolutionary Discrimination of Mammalian Conserved Non-Genic Sequences (CNGs) von Dermitzakis, Emmanouil T., Reymond, Alexandre, Scamuffa, Nathalie, Ucla, Catherine, Kirkness, Ewen, Rossier, Colette, Antonarakis, Stylianos E.

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Disease-causing 7.4 kb cis-regulatory deletion disrupting conserved non-coding sequences and their interaction with the FOXL2 promotor: implications for mutation screening von D'haene, Barbara, Attanasio, Catia, Beysen, Diane, Dostie, Josée, Lemire, Edmond, Bouchard, Philippe, Field, Michael, Jones, Kristie, Lorenz, Birgit, Menten, Björn, Buysse, Karen, Pattyn, Filip, Friedli, Marc, Ucla, Catherine, Rossier, Colette, Wyss, Carine, Speleman, Frank, De Paepe, Anne, Dekker, Job, Antonarakis, Stylianos E, De Baere, Elfride

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Mutations in the DNAH11 (Axonemal Heavy Chain Dynein type 11) Gene Cause One Form of Situs Inversus Totalis and Most Likely Primary Ciliary Dyskinesia von Bartoloni, Lucia, Blouin, Jean-Louis, Pan, Yanzhen, Gehrig, Corinne, Maiti, Amit K., Scamuffa, Nathalie, Rossier, Colette, Jorissen, Mark, Armengot, Miguel, Meeks, Maggie, Mitchison, Hannah M., Eddie M. K. Chung, Delozier-Blanchet, Celia D., Craigen, William J., Antonarakis, Stylianos E.

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GENCODE: producing a reference annotation for ENCODE von Harrow, Jennifer, Denoeud, France, Frankish, Adam, Reymond, Alexandre, Chen, Chao-Kung, Chrast, Jacqueline, Lagarde, Julien, Gilbert, James G R, Storey, Roy, Swarbreck, David, Rossier, Colette, Ucla, Catherine, Hubbard, Tim, Antonarakis, Stylianos E, Guigo, Roderic

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Molecular and clinical characteristics in 46 families affected with peutz-jeghers syndrome von MEHENNI, Hamid, RESTA, Nicoletta, COSTANZA, Michael C, ROSSIER, Colette, RADHAKRISHNA, Uppala, BURT, Randall W, PICARD, Didier, GUANTI, Ginevra, MOTA-VIEIRA, Louisa, LERNER, Aaron, PEYMAN, Mohammed, CHONG, Kim A, AISSA, Larbi, INCE, Ali, COSME, Angel

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Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy von Lalioti, Maria D, Scott, Hamish S, Buresi, Catherine, Rossier, Colette, Bottani, Armand, Morris, Michael A, Malafosse, Alain, Antonarakis, Stylianos E

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Loss of LKB1 Kinase Activity in Peutz-Jeghers Syndrome, and Evidence for Allelic and Locus Heterogeneity von Mehenni, Hamid, Gehrig, Corinne, Nezu, Jun-ichi, Oku, Asuka, Shimane, Miyuki, Rossier, Colette, Guex, Nicolas, Blouin, Jean-Louis, Scott, Hamish S., Antonarakis, Stylianos E.

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DNAI1 Mutations Explain Only 2% of Primary Ciliary Dykinesia von Failly, Mike, Saitta, Alexandra, Muñoz, Analia, Falconnet, Emilie, Rossier, Colette, Santamaria, Francesca, de Santi, Maria Margherita, Lazor, Romain, DeLozier-Blanchet, Celia D., Bartoloni, Lucia, Blouin, Jean-Louis

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Identification and Characterization of Two Putative Human Arginine Methyltransferases (HRMT1L1 and HRMT1L2) von Scott, Hamish S., Antonarakis, Stylianos E., Lalioti, Maria D., Rossier, Colette, Silver, Pamela A., Henry, Michael F.

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Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients von WATTENHOFER, Marie, DI IORIO, Mario Vincenzo, D'AMELIO, Marcello, ALWAN, Sura, ROSSIER, Colette, DAHL, Hans-Henrik M, PETERSEN, Michael B, ESTIVILL, Xavier, GASPARINI, Paolo, SCOTT, Hamish S, ANTONARAKIS, Stylianos E, RABIONET, Raquel, DOUGHERTY, Loretta, PAMPANOS, Andreas, SCHWEDE, Torsten, MONTSERRAT-SENTIS, Barbara, ARBONES, Maria Lourdes, ILIADES, Theofilos, PASQUADIBISCEGLIE, Annamaria

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Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations von Schwabe, Georg C, Hoffmann, Katrin, Loges, Niki Tomas, Birker, Daniel, Rossier, Colette, de Santi, Margherita M, Olbrich, Heike, Fliegauf, Manfred, Failly, Mike, Liebers, Uta, Collura, Mirella, Gaedicke, Gerhard, Mundlos, Stefan, Wahn, Ulrich, Blouin, Jean-Louis, Niggemann, Bodo, Omran, Heymut, Antonarakis, Stylianos E, Bartoloni, Lucia

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Nineteen Additional Unpredicted Transcripts from Human Chromosome 21 von Reymond, Alexandre, Camargo, Anamaria A., Deutsch, Samuel, Stevenson, Brian J., Parmigiani, Raphael B., Ucla, Catherine, Bettoni, Fabiana, Rossier, Colette, Lyle, Robert, Guipponi, Michel, de Souza, Sandro, Iseli, Christian, Jongeneel, C.Victor, Bucher, Philipp, Simpson, Andrew J.G., Antonarakis, Stylianos E.

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The murine orthologue of the Golgi-localized TPTE protein provides clues to the evolutionary history of the human TPTE gene family von GUIPPONI, Michel, TAPPAREL, Caroline, ANTONARAKIS, Stylianos E, JOUSSON, Olivier, SCAMUFFA, Nathalie, MAS, Christophe, ROSSIER, Colette, HUTTER, Pierre, MEDA, Paolo, LYLE, Robert, REYMOND, Alexandre

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Cloning of two human homologs of the Drosophila single-minded gene SIM1 on chromosome 6q and SIM2 on 21q within the Down syndrome chromosomal region von Chrast, R, Scott, H S, Chen, H, Kudoh, J, Rossier, C, Minoshima, S, Wang, Y, Shimizu, N, Antonarakis, S E

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In vitro analyses of known and novel RUNX1/AML1 mutations in dominant familial platelet disorder with predisposition to acute myelogenous leukemia: implications for mechanisms of p... von Michaud, Joëlle, Wu, Feng, Osato, Motomi, Cottles, Gregory M., Yanagida, Masatoshi, Asou, Norio, Shigesada, Katsuya, Ito, Yoshiaki, Benson, Kathleen F., Raskind, Wendy H., Rossier, Colette, Antonarakis, Stylianos E., Israels, Sara, McNicol, Archie, Weiss, Harvey, Horwitz, Marshall, Scott, Hamish S.

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The transmembrane serine protease (TMPRSS3) mutated in deafness DFNB8/10 activates the epithelial sodium channel (ENaC) in vitro von Guipponi, Michel, Vuagniaux, Grégoire, Wattenhofer, Marie, Shibuya, Kazunori, Vazquez, Maria, Dougherty, Loretta, Scamuffa, Nathalie, Guida, Elizabeth, Okui, Michiyo, Rossier, Colette, Hancock, Manuela, Buchet, Karine, Reymond, Alexandre, Hummler, Edith, Marzella, Phillip L., Kudoh, Jun, Shimizu, Nobuyoshi, Scott, Hamish S., Antonarakis, Stylianos E., Rossier, Bernard C.

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Uncoupling protein-3: a new member of the mitochondrial carrier family with tissue-specific expression von Boss, Olivier, Samec, Sonia, Paoloni-Giacobino, Ariane, Rossier, Colette, Dulloo, Abdul, Seydoux, Josiane, Muzzin, Patrick, Giacobino, Jean-Paul

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Cloning and Characterization of a Putative Human Glycerol 3-Phosphate Permease Gene (SLC37A1 or G3PP) on 21q22.3: Mutation Analysis in Two Candidate Phenotypes, DFNB10 and a Glycer... von Bartoloni, Lucia, Wattenhofer, Marie, Kudoh, Jun, Berry, Asher, Shibuya, Kazunori, Kawasaki, Kazuhiko, Wang, Jun, Asakawa, Shuichi, Talior, Ilana, Bonne-Tamir, Batsheva, Rossier, Colette, Michaud, Joelle, McCabe, Edward R.B., Minoshima, Shinsei, Shimizu, Nobuyoshi, Scott, Hamish S., Antonarakis, Stylianos E.

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Cloning of a Novel Homeobox-Containing Gene,PKNOX1,and Mapping to Human Chromosome 21q22.3 von Chen, Haiming, Rossier, Colette, Nakamura, Yusuke, Lynn, Audrey, Chakravarti, Aravinda, Antonarakis, Stylianos E.

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Insertion of β-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness von Antonarakis, Stylianos E, Scott, Hamish S, Kudoh, Jun, Wattenhofer, Marie, Shibuya, Kazunori, Berry, Asher, Chrast, Roman, Guipponi, Michel, Wang, Jun, Kawasaki, Kazuhiko, Asakawa, Shuichi, Minoshima, Shinsei, Younus, Farah, Mehdi, S. Qasim, Radhakrishna, Uppala, Papasavvas, Marie-Pierre, Gehrig, Corinne, Rossier, Colette, Korostishevsky, Michael, Gal, Andreas, Shimizu, Nobuyoshi, Bonne-Tamir, Batsheva

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