GENCODE reference annotation for the human and mouse genomes von Frankish, Adam, Diekhans, Mark, Ferreira, Anne-Maud, Johnson, Rory, Jungreis, Irwin, Loveland, Jane, Mudge, Jonathan M, Sisu, Cristina, Wright, James, Armstrong, Joel, Barnes, If, Berry, Andrew, Bignell, Alexandra, Carbonell Sala, Silvia, Chrast, Jacqueline, Cunningham, Fiona, Di Domenico, Tomás, Donaldson, Sarah, Fiddes, Ian T, García Girón, Carlos, Gonzalez, Jose Manuel, Grego, Tiago, Hardy, Matthew, Hourlier, Thibaut, Hunt, Toby, Izuogu, Osagie G, Lagarde, Julien, Martin, Fergal J, Martínez, Laura, Mohanan, Shamika, Muir, Paul, Navarro, Fabio C P, Parker, Anne, Pei, Baikang, Pozo, Fernando, Ruffier, Magali, Schmitt, Bianca M, Stapleton, Eloise, Suner, Marie-Marthe, Sycheva, Irina, Uszczynska-Ratajczak, Barbara, Xu, Jinuri, Yates, Andrew, Zerbino, Daniel, Zhang, Yan, Aken, Bronwen, Choudhary, Jyoti S, Gerstein, Mark, Guigó, Roderic, Hubbard, Tim J P, Kellis, Manolis, Paten, Benedict, Reymond, Alexandre, Tress, Michael L, Flicek, Paul

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Differentially expressed genes reflect disease-induced rather than disease-causing changes in the transcriptome von Porcu, Eleonora, Sadler, Marie C., Lepik, Kaido, Auwerx, Chiara, Wood, Andrew R., Weihs, Antoine, Sleiman, Maroun S. Bou, Ribeiro, Diogo M., Bandinelli, Stefania, Tanaka, Toshiko, Nauck, Matthias, Völker, Uwe, Delaneau, Olivier, Metspalu, Andres, Teumer, Alexander, Frayling, Timothy, Santoni, Federico A., Reymond, Alexandre, Kutalik, Zoltán

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GENCODE: the reference human genome annotation for The ENCODE Project von Harrow, Jennifer, Frankish, Adam, Gonzalez, Jose M, Tapanari, Electra, Diekhans, Mark, Kokocinski, Felix, Aken, Bronwen L, Barrell, Daniel, Zadissa, Amonida, Searle, Stephen, Barnes, If, Bignell, Alexandra, Boychenko, Veronika, Hunt, Toby, Kay, Mike, Mukherjee, Gaurab, Rajan, Jeena, Despacio-Reyes, Gloria, Saunders, Gary, Steward, Charles, Harte, Rachel, Lin, Michael, Howald, Cédric, Tanzer, Andrea, Derrien, Thomas, Chrast, Jacqueline, Walters, Nathalie, Balasubramanian, Suganthi, Pei, Baikang, Tress, Michael, Rodriguez, Jose Manuel, Ezkurdia, Iakes, van Baren, Jeltje, Brent, Michael, Haussler, David, Kellis, Manolis, Valencia, Alfonso, Reymond, Alexandre, Gerstein, Mark, Guigó, Roderic, Hubbard, Tim J

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KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant von Golzio, Christelle, Willer, Jason, Talkowski, Michael E., Oh, Edwin C., Taniguchi, Yu, Jacquemont, Sébastien, Reymond, Alexandre, Sun, Mei, Sawa, Akira, Gusella, James F., Kamiya, Atsushi, Beckmann, Jacques S., Katsanis, Nicholas

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Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities von D’Angelo, Debra, Lebon, Sébastien, Chen, Qixuan, Martin-Brevet, Sandra, Snyder, LeeAnne Green, Hippolyte, Loyse, Hanson, Ellen, Maillard, Anne M, Faucett, W. Andrew, Macé, Aurélien, Pain, Aurélie, Bernier, Raphael, Chawner, Samuel J. R. A, David, Albert, Andrieux, Joris, Aylward, Elizabeth, Baujat, Genevieve, Caldeira, Ines, Conus, Philippe, Ferrari, Carrina, Forzano, Francesca, Gérard, Marion, Goin-Kochel, Robin P, Grant, Ellen, Hunter, Jill V, Isidor, Bertrand, Jacquette, Aurélia, Jønch, Aia E, Keren, Boris, Lacombe, Didier, Le Caignec, Cédric, Martin, Christa Lese, Männik, Katrin, Metspalu, Andres, Mignot, Cyril, Mukherjee, Pratik, Owen, Michael J, Passeggeri, Marzia, Rooryck-Thambo, Caroline, Rosenfeld, Jill A, Spence, Sarah J, Steinman, Kyle J, Tjernagel, Jennifer, Van Haelst, Mieke, Shen, Yiping, Draganski, Bogdan, Sherr, Elliott H, Ledbetter, David H, van den Bree, Marianne B. M, Beckmann, Jacques S, Spiro, John E, Reymond, Alexandre, Jacquemont, Sébastien, Chung, Wendy K

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Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants von Pizzo, Lucilla, Jensen, Matthew, Polyak, Andrew, Rosenfeld, Jill A., Mannik, Katrin, Krishnan, Arjun, McCready, Elizabeth, Pichon, Olivier, Le Caignec, Cedric, Van Dijck, Anke, Pope, Kate, Voorhoeve, Els, Yoon, Jieun, Stankiewicz, Paweł, Cheung, Sau Wai, Pazuchanics, Damian, Huber, Emily, Kumar, Vijay, Kember, Rachel L., Mari, Francesca, Curró, Aurora, Castiglia, Lucia, Galesi, Ornella, Avola, Emanuela, Mattina, Teresa, Fichera, Marco, Mandarà, Luana, Vincent, Marie, Nizon, Mathilde, Mercier, Sandra, Bénéteau, Claire, Blesson, Sophie, Martin-Coignard, Dominique, Mosca-Boidron, Anne-Laure, Caberg, Jean-Hubert, Bucan, Maja, Zeesman, Susan, Nowaczyk, Małgorzata J. M., Lefebvre, Mathilde, Faivre, Laurence, Callier, Patrick, Skinner, Cindy, Keren, Boris, Perrine, Charles, Prontera, Paolo, Marle, Nathalie, Renieri, Alessandra, Reymond, Alexandre, Kooy, R. Frank, Isidor, Bertrand, Schwartz, Charles, Romano, Corrado, Sistermans, Erik, Amor, David J., Andrieux, Joris, Girirajan, Santhosh

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Coordinated Effects of Sequence Variation on DNA Binding, Chromatin Structure, and Transcription von Kilpinen, Helena, Waszak, Sebastian M., Gschwind, Andreas R., Raghav, Sunil K., Witwicki, Robert M., Orioli, Andrea, Migliavacca, Eugenia, Wiederkehr, Michaël, Gutierrez-Arcelus, Maria, Panousis, Nikolaos I., Yurovsky, Alisa, Lappalainen, Tuuli, Romano-Palumbo, Luciana, Planchon, Alexandra, Bielser, Deborah, Bryois, Julien, Padioleau, Ismael, Udin, Gilles, Thurnheer, Sarah, Hacker, David, Core, Leighton J., Lis, John T., Hernandez, Nouria, Reymond, Alexandre, Deplancke, Bart, Dermitzakis, Emmanouil T.

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Multifocal Epithelial Tumors and Field Cancerization from Loss of Mesenchymal CSL Signaling von Hu, Bing, Castillo, Einar, Harewood, Louise, Ostano, Paola, Reymond, Alexandre, Dummer, Reinhard, Raffoul, Wassim, Hoetzenecker, Wolfram, Hofbauer, Günther F.L., Dotto, G. Paolo

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Population Variation and Genetic Control of Modular Chromatin Architecture in Humans von Waszak, Sebastian M., Delaneau, Olivier, Gschwind, Andreas R., Kilpinen, Helena, Raghav, Sunil K., Witwicki, Robert M., Orioli, Andrea, Wiederkehr, Michael, Panousis, Nikolaos I., Yurovsky, Alisa, Romano-Palumbo, Luciana, Planchon, Alexandra, Bielser, Deborah, Padioleau, Ismael, Udin, Gilles, Thurnheer, Sarah, Hacker, David, Hernandez, Nouria, Reymond, Alexandre, Deplancke, Bart, Dermitzakis, Emmanouil T.

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Reciprocal Effects on Neurocognitive and Metabolic Phenotypes in Mouse Models of 16p11.2 Deletion and Duplication Syndromes von Arbogast, Thomas, Ouagazzal, Abdel-Mouttalib, Chevalier, Claire, Kopanitsa, Maksym, Afinowi, Nurudeen, Migliavacca, Eugenia, Cowling, Belinda S, Birling, Marie-Christine, Champy, Marie-France, Reymond, Alexandre, Herault, Yann

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A high-resolution anatomical atlas of the transcriptome in the mouse embryo von Diez-Roux, Graciana, Banfi, Sandro, Sultan, Marc, Geffers, Lars, Anand, Santosh, Rozado, David, Magen, Alon, Canidio, Elena, Pagani, Massimiliano, Peluso, Ivana, Lin-Marq, Nathalie, Koch, Muriel, Bilio, Marchesa, Cantiello, Immacolata, Verde, Roberta, De Masi, Cristian, Bianchi, Salvatore A, Cicchini, Juliette, Perroud, Elodie, Mehmeti, Shprese, Dagand, Emilie, Schrinner, Sabine, Nürnberger, Asja, Schmidt, Katja, Metz, Katja, Zwingmann, Christina, Brieske, Norbert, Springer, Cindy, Hernandez, Ana Martinez, Herzog, Sarah, Grabbe, Frauke, Sieverding, Cornelia, Fischer, Barbara, Schrader, Kathrin, Brockmeyer, Maren, Dettmer, Sarah, Helbig, Christin, Alunni, Violaine, Battaini, Marie-Annick, Mura, Carole, Henrichsen, Charlotte N, Garcia-Lopez, Raquel, Echevarria, Diego, Puelles, Eduardo, Garcia-Calero, Elena, Kruse, Stefan, Uhr, Markus, Kauck, Christine, Feng, Guangjie, Milyaev, Nestor, Ong, Chuang Kee, Kumar, Lalit, Lam, MeiSze, Semple, Colin A, Gyenesei, Attila, Mundlos, Stefan, Radelof, Uwe, Lehrach, Hans, Sarmientos, Paolo, Reymond, Alexandre, Davidson, Duncan R, Dollé, Pascal, Antonarakis, Stylianos E, Yaspo, Marie-Laure, Martinez, Salvador, Baldock, Richard A, Eichele, Gregor, Ballabio, Andrea

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Exploiting the mediating role of the metabolome to unravel transcript-to-phenotype associations von Auwerx, Chiara, Sadler, Marie C, Woh, Tristan, Reymond, Alexandre, Kutalik, Zoltán, Porcu, Eleonora

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Copy Number Variations and Cognitive Phenotypes in Unselected Populations von Männik, Katrin, Mägi, Reedik, Macé, Aurélien, Cole, Ben, Guyatt, Anna L, Shihab, Hashem A, Maillard, Anne M, Alavere, Helene, Kolk, Anneli, Reigo, Anu, Mihailov, Evelin, Leitsalu, Liis, Ferreira, Anne-Maud, Nõukas, Margit, Teumer, Alexander, Salvi, Erika, Cusi, Daniele, McGue, Matt, Iacono, William G, Gaunt, Tom R, Beckmann, Jacques S, Jacquemont, Sébastien, Kutalik, Zoltán, Pankratz, Nathan, Timpson, Nicholas, Metspalu, Andres, Reymond, Alexandre

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Emergence of a Homo sapiens-specific gene family and chromosome 16p11.2 CNV susceptibility von Nuttle, Xander, Giannuzzi, Giuliana, Duyzend, Michael H., Schraiber, Joshua G., Narvaiza, Iñigo, Sudmant, Peter H., Penn, Osnat, Chiatante, Giorgia, Malig, Maika, Huddleston, John, Benner, Chris, Camponeschi, Francesca, Ciofi-Baffoni, Simone, Stessman, Holly A. F., Marchetto, Maria C. N., Denman, Laura, Harshman, Lana, Baker, Carl, Raja, Archana, Penewit, Kelsi, Janke, Nicolette, Tang, W. Joyce, Ventura, Mario, Banci, Lucia, Antonacci, Francesca, Akey, Joshua M., Amemiya, Chris T., Gage, Fred H., Reymond, Alexandre, Eichler, Evan E.

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Dissecting the autism-associated 16p11.2 locus identifies multiple drivers in neuroanatomical phenotypes and unveils a male-specific role for the major vault protein von Kretz, Perrine F, Wagner, Christel, Mikhaleva, Anna, Montillot, Charlotte, Hugel, Sylvain, Morella, Ilaria, Kannan, Meghna, Fischer, Marie-Christine, Milhau, Maxence, Yalcin, Ipek, Brambilla, Riccardo, Selloum, Mohammed, Herault, Yann, Reymond, Alexandre, Collins, Stephan C, Yalcin, Binnaz

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Bayesian association scan reveals loci associated with human lifespan and linked biomarkers von McDaid, Aaron F., Joshi, Peter K., Porcu, Eleonora, Komljenovic, Andrea, Li, Hao, Sorrentino, Vincenzo, Litovchenko, Maria, Bevers, Roel P. J., Rüeger, Sina, Reymond, Alexandre, Bochud, Murielle, Deplancke, Bart, Williams, Robert W., Robinson-Rechavi, Marc, Paccaud, Fred, Rousson, Valentin, Auwerx, Johan, Wilson, James F., Kutalik, Zoltán

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Emergence of young human genes after a burst of retroposition in primates von Marques, Ana Claudia, Dupanloup, Isabelle, Vinckenbosch, Nicolas, Reymond, Alexandre, Kaessmann, Henrik

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Chromosome 21 and Down syndrome: from genomics to pathophysiology von Antonarakis, Stylianos E, Lyle, Robert, Dermitzakis, Emmanouil T, Reymond, Alexandre, Deutsch, Samuel

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The Number of Genomic Copies at the 16p11.2 Locus Modulates Language, Verbal Memory, and Inhibition von Hippolyte, Loyse, Maillard, Anne M, Rodriguez-Herreros, Borja, Pain, Aurélie, Martin-Brevet, Sandra, Ferrari, Carina, Conus, Philippe, Macé, Aurélien, Hadjikhani, Nouchine, Metspalu, Andres, Reigo, Anu, Kolk, Anneli, Männik, Katrin, Barker, Mandy, Isidor, Bertrand, Le Caignec, Cédric, Mignot, Cyril, Schneider, Laurence, Mottron, Laurent, Keren, Boris, David, Albert, Doco-Fenzy, Martine, Gérard, Marion, Bernier, Raphael, Goin-Kochel, Robin P, Hanson, Ellen, Green Snyder, LeeAnne, Ramus, Franck, Beckmann, Jacques S, Draganski, Bogdan, Reymond, Alexandre, Jacquemont, Sébastien

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A mitochondria-specific mutational signature of aging: increased rate of A > G substitutions on the heavy strand von Mikhailova, Alina G, Mikhailova, Alina A, Ushakova, Kristina, Tretiakov, Evgeny O, Iliushchenko, Dmitrii, Shamansky, Victor, Lobanova, Valeria, Kozenkov, Ivan, Efimenko, Bogdan, Yurchenko, Andrey A, Kozenkova, Elena, Zdobnov, Evgeny M, Makeev, Vsevolod, Yurov, Valerian, Tanaka, Masashi, Gostimskaya, Irina, Fleischmann, Zoe, Annis, Sofia, Franco, Melissa, Wasko, Kevin, Denisov, Stepan, Kunz, Wolfram S, Knorre, Dmitry, Mazunin, Ilya, Nikolaev, Sergey, Fellay, Jacques, Reymond, Alexandre, Khrapko, Konstantin, Gunbin, Konstantin, Popadin, Konstantin

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