The growing importance of CNVs: new insights for detection and clinical interpretation

by Armand eValsesia, Aurélien eMace, Aurélien eMace, Sébastien eJacquemont, Jacques S Beckmann, Jacques S Beckmann, Jacques S Beckmann, Zoltán eKutalik, Zoltán eKutalik, Zoltán eKutalik
Published 2013-05-01

Great future or greedy venture: Precision medicine needs philosophy

by Fei Jiao, Ruoyu Guo, Jacques S. Beckmann, Zhonghai Yan, Yun Yang, Jinxia Hu, Xin Wang, Shuyang Xie
Published 2021-09-01

In vitro whole-genome analysis identifies a susceptibility locus for HIV-1.

by Corinne Loeuillet, Samuel Deutsch, Angela Ciuffi, Daniel Robyr, Patrick Taffé, Miguel Muñoz, Jacques S Beckmann, Stylianos E Antonarakis, Amalio Telenti
Published 2008-02-01

Cardiovascular response to beta-adrenergic blockade or activation in 23 inbred mouse strains.

by Corinne Berthonneche, Bastian Peter, Fanny Schüpfer, Pamela Hayoz, Zoltán Kutalik, Hugues Abriel, Thierry Pedrazzini, Jacques S Beckmann, Sven Bergmann, Fabienne Maurer
Published 2009-08-01

Correction: Mapping Genetic Variants Associated with Beta-Adrenergic Responses in Inbred Mice

by Micha Hersch, Bastian Peter, Hyun Min Kang, Fanny Schüpfer, Hugues Abriel, Thierry Pedrazzini, Eleazar Eskin, Jacques S. Beckmann, Sven Bergmann, Fabienne Maurer
Published 2014-01-01

Mapping genetic variants associated with beta-adrenergic responses in inbred mice.

by Micha Hersch, Bastian Peter, Hyun Min Kang, Fanny Schüpfer, Hugues Abriel, Thierry Pedrazzini, Eleazar Eskin, Jacques S Beckmann, Sven Bergmann, Fabienne Maurer
Published 2012-01-01

Correction: Mapping Genetic Variants Associated with -Adrenergic Responses in Inbred Mice.

by Micha Hersch, Bastian Peter, Hyun Min Kang, Fanny Schüpfer, Hugues Abriel, Thierry Pedrazzini, Eleazar Eskin, Jacques S. Beckmann, Sven Bergmann, Fabienne Maurer
Published 2014-01-01

Global transcriptional programs in peripheral nerve endoneurium and DRG are resistant to the onset of type 1 diabetic neuropathy in Ins2 mice.

by Anne-Sophie de Preux Charles, Valérie Verdier, Jennifer Zenker, Bastian Peter, Jean-Jacques Médard, Thierry Kuntzer, Jacques S Beckmann, Sven Bergmann, Roman Chrast
Published 2010-01-01

Network-guided analysis of genes with altered somatic copy number and gene expression reveals pathways commonly perturbed in metastatic melanoma.

by Armand Valsesia, Donata Rimoldi, Danielle Martinet, Mark Ibberson, Paola Benaglio, Manfredo Quadroni, Patrice Waridel, Muriel Gaillard, Mireille Pidoux, Blandine Rapin, Carlo Rivolta, Ioannis Xenarios, Andrew J G Simpson, Stylianos E Antonarakis, Jacques S Beckmann, C Victor Jongeneel, Christian Iseli, Brian J Stevenson
Published 2011-04-01

Genome-wide association study of metabolic traits reveals novel gene-metabolite-disease links.

by Rico Rueedi, Mirko Ledda, Andrew W Nicholls, Reza M Salek, Pedro Marques-Vidal, Edgard Morya, Koichi Sameshima, Ivan Montoliu, Laeticia Da Silva, Sebastiano Collino, François-Pierre Martin, Serge Rezzi, Christoph Steinbeck, Dawn M Waterworth, Gérard Waeber, Peter Vollenweider, Jacques S Beckmann, Johannes Le Coutre, Vincent Mooser, Sven Bergmann, Ulrich K Genick, Zoltán Kutalik
Published 2014-02-01

The zinc transporter SLC39A13/ZIP13 is required for connective tissue development; its involvement in BMP/TGF-beta signaling pathways.

by Toshiyuki Fukada, Natacha Civic, Tatsuya Furuichi, Shinji Shimoda, Kenji Mishima, Hiroyuki Higashiyama, Yayoi Idaira, Yoshinobu Asada, Hiroshi Kitamura, Satoru Yamasaki, Shintaro Hojyo, Manabu Nakayama, Osamu Ohara, Haruhiko Koseki, Heloisa G Dos Santos, Luisa Bonafe, Russia Ha-Vinh, Andreas Zankl, Sheila Unger, Marius E Kraenzlin, Jacques S Beckmann, Ichiro Saito, Carlo Rivolta, Shiro Ikegawa, Andrea Superti-Furga, Toshio Hirano
Published 2008-01-01

Correction: The Zinc Transporter SLC39A13/ZIP13 Is Required for Connective Tissue Development; Its Involvement in BMP/TGF-β Signaling Pathways

by Toshiyuki Fukada, Natacha Civic, Tatsuya Furuichi, Shinji Shimoda, Kenji Mishima, Hiroyuki Higashiyama, Yayoi Idaira, Yoshinobu Asada, Hiroshi Kitamura, Satoru Yamasaki, Shintaro Hojyo, Manabu Nakayama, Osamu Ohara, Haruhiko Koseki, Heloisa G. dos Santos, Luisa Bonafe, Russia Ha-Vinh, Andreas Zankl, Sheila Unger, Marius E. Kraenzlin, Jacques S. Beckmann, Ichiro Saito, Carlo Rivolta, Shiro Ikegawa, Andrea Superti-Furga, Toshio Hirano
Published 2008-01-01

Correction: The Zinc Transporter SLC39A13/ZIP13 Is Required for Connective Tissue Development; Its Involvement in BMP/TGF-β Signaling Pathways.

by Toshiyuki Fukada, Natacha Civic, Tatsuya Furuichi, Shinji Shimoda, Kenji Mishima, Hiroyuki Higashiyama, Yayoi Idaira, Yoshinobu Asada, Hiroshi Kitamura, Satoru Yamasaki, Shintaro Hojyo, Manabu Nakayama, Osamu Ohara, Haruhiko Koseki, Heloisa G. dos Santos, Luisa Bonafe, Russia Ha-Vinh, Andreas Zankl, Sheila Unger, Marius E. Kraenzlin, Jacques S. Beckmann, Ichiro Saito, Carlo Rivolta, Shiro Ikegawa, Andrea Superti-Furga, Toshio Hirano
Published 2008-01-01

Rare genomic structural variants in complex disease: lessons from the replication of associations with obesity.

by Robin G Walters, Lachlan J M Coin, Aimo Ruokonen, Adam J de Smith, Julia S El-Sayed Moustafa, Sebastien Jacquemont, Paul Elliott, Tõnu Esko, Anna-Liisa Hartikainen, Jaana Laitinen, Katrin Männik, Danielle Martinet, David Meyre, Matthias Nauck, Claudia Schurmann, Rob Sladek, Gudmar Thorleifsson, Unnur Thorsteinsdóttir, Armand Valsesia, Gerard Waeber, Flore Zufferey, Beverley Balkau, François Pattou, Andres Metspalu, Henry Völzke, Peter Vollenweider, Kári Stefansson, Marjo-Riitta Järvelin, Jacques S Beckmann, Philippe Froguel, Alexandra I F Blakemore
Published 2013-01-01

Genome-wide meta-analysis for serum calcium identifies significantly associated SNPs near the calcium-sensing receptor (CASR) gene.

by Karen Kapur, Toby Johnson, Noam D Beckmann, Joban Sehmi, Toshiko Tanaka, Zoltán Kutalik, Unnur Styrkarsdottir, Weihua Zhang, Diana Marek, Daniel F Gudbjartsson, Yuri Milaneschi, Hilma Holm, Angelo Diiorio, Dawn Waterworth, Yun Li, Andrew B Singleton, Unnur S Bjornsdottir, Gunnar Sigurdsson, Dena G Hernandez, Ranil Desilva, Paul Elliott, Gudmundur I Eyjolfsson, Jack M Guralnik, James Scott, Unnur Thorsteinsdottir, Stefania Bandinelli, John Chambers, Kari Stefansson, Gérard Waeber, Luigi Ferrucci, Jaspal S Kooner, Vincent Mooser, Peter Vollenweider, Jacques S Beckmann, Murielle Bochud, Sven Bergmann
Published 2010-07-01

Association of eGFR-Related Loci Identified by GWAS with Incident CKD and ESRD.

by Carsten A Böger, Mathias Gorski, Man Li, Michael M Hoffmann, Chunmei Huang, Qiong Yang, Alexander Teumer, Vera Krane, Conall M O'Seaghdha, Zoltán Kutalik, H-Erich Wichmann, Thomas Haak, Eva Boes, Stefan Coassin, Josef Coresh, Barbara Kollerits, Margot Haun, Bernhard Paulweber, Anna Köttgen, Guo Li, Michael G Shlipak, Neil Powe, Shih-Jen Hwang, Abbas Dehghan, Fernando Rivadeneira, André Uitterlinden, Albert Hofman, Jacques S Beckmann, Bernhard K Krämer, Jacqueline Witteman, Murielle Bochud, David Siscovick, Rainer Rettig, Florian Kronenberg, Christoph Wanner, Ravi I Thadhani, Iris M Heid, Caroline S Fox, W H Kao, CKDGen Consortium
Published 2011-09-01

Common genetic variation and the control of HIV-1 in humans.

by Jacques Fellay, Dongliang Ge, Kevin V Shianna, Sara Colombo, Bruno Ledergerber, Elizabeth T Cirulli, Thomas J Urban, Kunlin Zhang, Curtis E Gumbs, Jason P Smith, Antonella Castagna, Alessandro Cozzi-Lepri, Andrea De Luca, Philippa Easterbrook, Huldrych F Günthard, Simon Mallal, Cristina Mussini, Judith Dalmau, Javier Martinez-Picado, José M Miro, Niels Obel, Steven M Wolinsky, Jeremy J Martinson, Roger Detels, Joseph B Margolick, Lisa P Jacobson, Patrick Descombes, Stylianos E Antonarakis, Jacques S Beckmann, Stephen J O'Brien, Norman L Letvin, Andrew J McMichael, Barton F Haynes, Mary Carrington, Sheng Feng, Amalio Telenti, David B Goldstein, NIAID Center for HIV/AIDS Vaccine Immunology (CHAVI)
Published 2009-12-01

Meta-analysis of 28,141 individuals identifies common variants within five new loci that influence uric acid concentrations.

by Melanie Kolz, Toby Johnson, Serena Sanna, Alexander Teumer, Veronique Vitart, Markus Perola, Massimo Mangino, Eva Albrecht, Chris Wallace, Martin Farrall, Asa Johansson, Dale R Nyholt, Yurii Aulchenko, Jacques S Beckmann, Sven Bergmann, Murielle Bochud, Morris Brown, Harry Campbell, EUROSPAN Consortium, John Connell, Anna Dominiczak, Georg Homuth, Claudia Lamina, Mark I McCarthy, ENGAGE Consortium, Thomas Meitinger, Vincent Mooser, Patricia Munroe, Matthias Nauck, John Peden, Holger Prokisch, Perttu Salo, Veikko Salomaa, Nilesh J Samani, David Schlessinger, Manuela Uda, Uwe Völker, Gérard Waeber, Dawn Waterworth, Rui Wang-Sattler, Alan F Wright, Jerzy Adamski, John B Whitfield, Ulf Gyllensten, James F Wilson, Igor Rudan, Peter Pramstaller, Hugh Watkins, PROCARDIS Consortium, Angela Doering, H-Erich Wichmann, KORA Study, Tim D Spector, Leena Peltonen, Henry Völzke, Ramaiah Nagaraja, Peter Vollenweider, Mark Caulfield, WTCCC, Thomas Illig, Christian Gieger
Published 2009-06-01

Novel approach identifies SNPs in SLC2A10 and KCNK9 with evidence for parent-of-origin effect on body mass index.

by Clive J Hoggart, Giulia Venturini, Massimo Mangino, Felicia Gomez, Giulia Ascari, Jing Hua Zhao, Alexander Teumer, Thomas W Winkler, Natalia Tšernikova, Jian'an Luan, Evelin Mihailov, Georg B Ehret, Weihua Zhang, David Lamparter, Tõnu Esko, Aurelien Macé, Sina Rüeger, Pierre-Yves Bochud, Matteo Barcella, Yves Dauvilliers, Beben Benyamin, David M Evans, Caroline Hayward, Mary F Lopez, Lude Franke, Alessia Russo, Iris M Heid, Erika Salvi, Sailaja Vendantam, Dan E Arking, Eric Boerwinkle, John C Chambers, Giovanni Fiorito, Harald Grallert, Simonetta Guarrera, Georg Homuth, Jennifer E Huffman, David Porteous, Generation Scotland Consortium, LifeLines Cohort study, GIANT Consortium, Darius Moradpour, Alex Iranzo, Johannes Hebebrand, John P Kemp, Gert J Lammers, Vincent Aubert, Markus H Heim, Nicholas G Martin, Grant W Montgomery, Rosa Peraita-Adrados, Joan Santamaria, Francesco Negro, Carsten O Schmidt, Robert A Scott, Tim D Spector, Konstantin Strauch, Henry Völzke, Nicholas J Wareham, Wei Yuan, Jordana T Bell, Aravinda Chakravarti, Jaspal S Kooner, Annette Peters, Giuseppe Matullo, Henri Wallaschofski, John B Whitfield, Fred Paccaud, Peter Vollenweider, Sven Bergmann, Jacques S Beckmann, Mehdi Tafti, Nicholas D Hastie, Daniele Cusi, Murielle Bochud, Timothy M Frayling, Andres Metspalu, Marjo-Riitta Jarvelin, André Scherag, George Davey Smith, Ingrid B Borecki, Valentin Rousson, Joel N Hirschhorn, Carlo Rivolta, Ruth J F Loos, Zoltán Kutalik
Published 2014-07-01

CNV-association meta-analysis in 191,161 European adults reveals new loci associated with anthropometric traits

by Aurélien Macé, Marcus A. Tuke, Patrick Deelen, Kati Kristiansson, Hannele Mattsson, Margit Nõukas, Yadav Sapkota, Ursula Schick, Eleonora Porcu, Sina Rüeger, Aaron F. McDaid, David Porteous, Thomas W. Winkler, Erika Salvi, Nick Shrine, Xueping Liu, Wei Q. Ang, Weihua Zhang, Mary F. Feitosa, Cristina Venturini, Peter J. van der Most, Anders Rosengren, Andrew R. Wood, Robin N. Beaumont, Samuel E. Jones, Katherine S. Ruth, Hanieh Yaghootkar, Jessica Tyrrell, Aki S. Havulinna, Harmen Boers, Reedik Mägi, Jennifer Kriebel, Martina Müller-Nurasyid, Markus Perola, Markku Nieminen, Marja-Liisa Lokki, Mika Kähönen, Jorma S. Viikari, Frank Geller, Jari Lahti, Aarno Palotie, Päivikki Koponen, Annamari Lundqvist, Harri Rissanen, Erwin P. Bottinger, Saima Afaq, Mary K. Wojczynski, Petra Lenzini, Ilja M. Nolte, Thomas Sparsø, Nicole Schupf, Kaare Christensen, Thomas T. Perls, Anne B. Newman, Thomas Werge, Harold Snieder, Timothy D. Spector, John C. Chambers, Seppo Koskinen, Mads Melbye, Olli T. Raitakari, Terho Lehtimäki, Martin D. Tobin, Louise V. Wain, Juha Sinisalo, Annette Peters, Thomas Meitinger, Nicholas G. Martin, Naomi R. Wray, Grant W. Montgomery, Sarah E. Medland, Morris A. Swertz, Erkki Vartiainen, Katja Borodulin, Satu Männistö, Anna Murray, Murielle Bochud, Sébastien Jacquemont, Fernando Rivadeneira, Thomas F. Hansen, Albertine J. Oldehinkel, Massimo Mangino, Michael A. Province, Panos Deloukas, Jaspal S. Kooner, Rachel M. Freathy, Craig Pennell, Bjarke Feenstra, David P. Strachan, Guillaume Lettre, Joel Hirschhorn, Daniele Cusi, Iris M. Heid, Caroline Hayward, Katrin Männik, Jacques S. Beckmann, Ruth J. F. Loos, Dale R. Nyholt, Andres Metspalu, Johan G. Eriksson, Michael N. Weedon, Veikko Salomaa, Lude Franke, Alexandre Reymond, Timothy M. Frayling, Zoltán Kutalik
Published 2017-09-01