A Higher Mutational Burden in Females Supports a “Female Protective Model” in Neurodevelopmental Disorders
Jacquemont, Sébastien, Coe, Bradley P., Hersch, Micha, Duyzend, Michael H., Krumm, Niklas, Bergmann, Sven, Beckmann, Jacques S., Rosenfeld, Jill A., Eichler, Evan E.
Published in American journal of human genetics (06.03.2014)
Published in American journal of human genetics (06.03.2014)
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KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant
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
Published in Nature (London) (17.05.2012)
Published in Nature (London) (17.05.2012)
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Copy Number Variations and Cognitive Phenotypes in Unselected Populations
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
Published in JAMA : the journal of the American Medical Association (26.05.2015)
Published in JAMA : the journal of the American Medical Association (26.05.2015)
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Meta-analysis of 28,141 individuals identifies common variants within five new loci that influence uric acid concentrations
Kolz, Melanie, Johnson, Toby, Sanna, Serena, Teumer, Alexander, Vitart, Veronique, Perola, Markus, Mangino, Massimo, Albrecht, Eva, Wallace, Chris, Farrall, Martin, Johansson, Asa, Nyholt, Dale R, Aulchenko, Yurii, Beckmann, Jacques S, Bergmann, Sven, Bochud, Murielle, Brown, Morris, Campbell, Harry, Connell, John, Dominiczak, Anna, Homuth, Georg, Lamina, Claudia, McCarthy, Mark I, Meitinger, Thomas, Mooser, Vincent, Munroe, Patricia, Nauck, Matthias, Peden, John, Prokisch, Holger, Salo, Perttu, Salomaa, Veikko, Samani, Nilesh J, Schlessinger, David, Uda, Manuela, Völker, Uwe, Waeber, Gérard, Waterworth, Dawn, Wang-Sattler, Rui, Wright, Alan F, Adamski, Jerzy, Whitfield, John B, Gyllensten, Ulf, Wilson, James F, Rudan, Igor, Pramstaller, Peter, Watkins, Hugh, Doering, Angela, Wichmann, H-Erich, Spector, Tim D, Peltonen, Leena, Völzke, Henry, Nagaraja, Ramaiah, Vollenweider, Peter, Caulfield, Mark, Illig, Thomas, Gieger, Christian
Published in PLoS genetics (01.06.2009)
Published in PLoS genetics (01.06.2009)
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Common genetic variation and the control of HIV-1 in humans
Fellay, Jacques, Ge, Dongliang, Shianna, Kevin V, Colombo, Sara, Ledergerber, Bruno, Cirulli, Elizabeth T, Urban, Thomas J, Zhang, Kunlin, Gumbs, Curtis E, Smith, Jason P, Castagna, Antonella, Cozzi-Lepri, Alessandro, De Luca, Andrea, Easterbrook, Philippa, Günthard, Huldrych F, Mallal, Simon, Mussini, Cristina, Dalmau, Judith, Martinez-Picado, Javier, Miro, José M, Obel, Niels, Wolinsky, Steven M, Martinson, Jeremy J, Detels, Roger, Margolick, Joseph B, Jacobson, Lisa P, Descombes, Patrick, Antonarakis, Stylianos E, Beckmann, Jacques S, O'Brien, Stephen J, Letvin, Norman L, McMichael, Andrew J, Haynes, Barton F, Carrington, Mary, Feng, Sheng, Telenti, Amalio, Goldstein, David B
Published in PLoS genetics (01.12.2009)
Published in PLoS genetics (01.12.2009)
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SCRIB and PUF60 Are Primary Drivers of the Multisystemic Phenotypes of the 8q24.3 Copy-Number Variant
Dauber, Andrew, Golzio, Christelle, Guenot, Cécile, Jodelka, Francine M., Kibaek, Maria, Kjaergaard, Susanne, Leheup, Bruno, Martinet, Danielle, Nowaczyk, Malgorzata J.M., Rosenfeld, Jill A., Zeesman, Susan, Zunich, Janice, Beckmann, Jacques S., Hirschhorn, Joel N., Hastings, Michelle L., Jacquemont, Sebastien, Katsanis, Nicholas
Published in American journal of human genetics (07.11.2013)
Published in American journal of human genetics (07.11.2013)
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Association of eGFR-Related Loci Identified by GWAS with Incident CKD and ESRD
Böger, Carsten A, Gorski, Mathias, Li, Man, Hoffmann, Michael M, Huang, Chunmei, Yang, Qiong, Teumer, Alexander, Krane, Vera, O'Seaghdha, Conall M, Kutalik, Zoltán, Wichmann, H-Erich, Haak, Thomas, Boes, Eva, Coassin, Stefan, Coresh, Josef, Kollerits, Barbara, Haun, Margot, Paulweber, Bernhard, Köttgen, Anna, Li, Guo, Shlipak, Michael G, Powe, Neil, Hwang, Shih-Jen, Dehghan, Abbas, Rivadeneira, Fernando, Uitterlinden, André, Hofman, Albert, Beckmann, Jacques S, Krämer, Bernhard K, Witteman, Jacqueline, Bochud, Murielle, Siscovick, David, Rettig, Rainer, Kronenberg, Florian, Wanner, Christoph, Thadhani, Ravi I, Heid, Iris M, Fox, Caroline S, Kao, W H
Published in PLoS genetics (01.09.2011)
Published in PLoS genetics (01.09.2011)
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Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene
Nishiguchi, Koji M., Tearle, Richard G., Liu, Yangfan P., Oh, Edwin C., Miyake, Noriko, Benaglio, Paola, Harper, Shyana, Koskiniemi-Kuendig, Hanna, Venturini, Giulia, Sharon, Dror, Koenekoop, Robert K., Nakamura, Makoto, Kondo, Mineo, Ueno, Shinji, Yasuma, Tetsuhiro R., Beckmann, Jacques S., Ikegawa, Shiro, Matsumoto, Naomichi, Terasaki, Hiroko, Berson, Eliot L., Katsanis, Nicholas, Rivolta, Carlo
Published in Proceedings of the National Academy of Sciences - PNAS (01.10.2013)
Published in Proceedings of the National Academy of Sciences - PNAS (01.10.2013)
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IL-17 receptor A and adenosine deaminase 2 deficiency in siblings with recurrent infections and chronic inflammation
Fellmann, Florence, MD, PhD, Angelini, Federica, MD, PhD, Wassenberg, Jacqueline, MD, Perreau, Matthieu, PhD, Arenas Ramirez, Natalia, Simon, Gregoire, MSc, Boyman, Onur, MD, Demaria, Olivier, PhD, Christen-Zaech, Stephanie, MD, Hohl, Daniel, MD, Belfiore, Marco, PhD, von Scheven-Gete, Annette, MD, Gilliet, Michel, MD, Bochud, Pierre-Yves, MD, Perrin, Yannick, MD, Beck Popovic, Maya, MD, Bart, Pierre-Alexandre, MD, Beckmann, Jacques S., PhD, Martinet, Danielle, PhD, Hofer, Michaël, MD
Published in Journal of allergy and clinical immunology (01.04.2016)
Published in Journal of allergy and clinical immunology (01.04.2016)
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The zinc transporter SLC39A13/ZIP13 is required for connective tissue development; its involvement in BMP/TGF-beta signaling pathways
Fukada, Toshiyuki, Civic, Natacha, Furuichi, Tatsuya, Shimoda, Shinji, Mishima, Kenji, Higashiyama, Hiroyuki, Idaira, Yayoi, Asada, Yoshinobu, Kitamura, Hiroshi, Yamasaki, Satoru, Hojyo, Shintaro, Nakayama, Manabu, Ohara, Osamu, Koseki, Haruhiko, Dos Santos, Heloisa G, Bonafe, Luisa, Ha-Vinh, Russia, Zankl, Andreas, Unger, Sheila, Kraenzlin, Marius E, Beckmann, Jacques S, Saito, Ichiro, Rivolta, Carlo, Ikegawa, Shiro, Superti-Furga, Andrea, Hirano, Toshio
Published in PloS one (05.11.2008)
Published in PloS one (05.11.2008)
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Genome-wide association study of metabolic traits reveals novel gene-metabolite-disease links
Rueedi, Rico, Ledda, Mirko, Nicholls, Andrew W, Salek, Reza M, Marques-Vidal, Pedro, Morya, Edgard, Sameshima, Koichi, Montoliu, Ivan, Da Silva, Laeticia, Collino, Sebastiano, Martin, François-Pierre, Rezzi, Serge, Steinbeck, Christoph, Waterworth, Dawn M, Waeber, Gérard, Vollenweider, Peter, Beckmann, Jacques S, Le Coutre, Johannes, Mooser, Vincent, Bergmann, Sven, Genick, Ulrich K, Kutalik, Zoltán
Published in PLoS genetics (01.02.2014)
Published in PLoS genetics (01.02.2014)
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Target Sequencing, Cell Experiments, and a Population Study Establish Endothelial Nitric Oxide Synthase (eNOS) Gene as Hypertension Susceptibility Gene
Salvi, Erika, Kuznetsova, Tatiana, Thijs, Lutgarde, Lupoli, Sara, Stolarz-Skrzypek, Katarzyna, D’Avila, Francesca, Tikhonoff, Valerie, De Astis, Silvia, Barcella, Matteo, Seidlerová, Jitka, Benaglio, Paola, Malyutina, Sofia, Frau, Francesca, Velayutham, Dinesh, Benfante, Roberta, Zagato, Laura, Title, Alexandra, Braga, Daniele, Marek, Diana, Kawecka-Jaszcz, Kalina, Casiglia, Edoardo, Filipovský, Jan, Nikitin, Yuri, Rivolta, Carlo, Manunta, Paolo, Beckmann, Jacques S, Barlassina, Cristina, Cusi, Daniele, Staessen, Jan A
Published in Hypertension (Dallas, Tex. 1979) (01.11.2013)
Published in Hypertension (Dallas, Tex. 1979) (01.11.2013)
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Mutations in the Heparan-Sulfate Proteoglycan Glypican 6 (GPC6) Impair Endochondral Ossification and Cause Recessive Omodysplasia
Campos-Xavier, Ana Belinda, Martinet, Danielle, Bateman, John, Belluoccio, Dan, Rowley, Lynn, Tan, Tiong Yang, Baxová, Alica, Gustavson, Karl-Henrik, Borochowitz, Zvi U., Innes, A. Micheil, Unger, Sheila, Beckmann, Jacques S., Mittaz, Lauréane, Ballhausen, Diana, Superti-Furga, Andrea, Savarirayan, Ravi, Bonafé, Luisa
Published in American journal of human genetics (12.06.2009)
Published in American journal of human genetics (12.06.2009)
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Sh3tc2 deficiency affects neuregulin-1/ErbB signaling
Gouttenoire, Estelle Arnaud, Lupo, Vincenzo, Calpena, Eduardo, Bartesaghi, Luca, Schüpfer, Fanny, Médard, Jean-Jacques, Maurer, Fabienne, Beckmann, Jacques S., Senderek, Jan, Palau, Francesc, Espinós, Carmen, Chrast, Roman
Published in Glia (01.07.2013)
Published in Glia (01.07.2013)
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