Complex traits

  • Excess of singleton loss-of-function variants in Parkinson’s disease contributes to genetic risk
    Dheeraj Reddy Bobbili, Peter Banda, Rejko Krüger, Patrick May
  • Genotype-first in a cohort of 95 fetuses with multiple congenital abnormalities: when exome sequencing reveals unexpected fetal phenotype-genotype correlations
    Mathilde Lefebvre, Ange-Line Bruel, Emilie Tisserant, Nicolas Bourgon, Yannis Duffourd, Sophie Collardeau-Frachon, Tania Attie-Bitach, Paul Kuentz, Mirna assoum, Elise Schaefer, Salima El Chehadeh, Maria Cristina Antal, Valérie Kremer, Françoise Girard-Lemaitre, Jean-Louis Mandel, Daphne Lehalle, Sophie Nambot, Nolwenn Jean-Marçais, Nada Houcinat, Sébastien Moutton, Nathalie Marle, Laetita Lambert, Philippe Jonveaux, Bernard Foliguet, Jean-Pierre Mazutti, Dominique Gaillard, Elisabeth Alanio, Celine Poirisier, Anne-Sophie Lebre, Marion Aubert-Lenoir, Francine Arbez-Gindre, Sylvie Odent, Chloé Quélin, Philippe Loget, Melanie Fradin, Marjolaine Willems, Nicole Bigi, Marie-José Perez, Sophie Blesson, Christine Francannet, Anne-Marie Beaufrere, Sophie Patrier-Sallebert, Anne-Marie Guerrot, Alice Goldenberg, Anne-Claire Brehin, James Lespinasse, Renaud Touraine, Yline Capri, Marie-Hélène Saint-Frison, Nicole Laurent, Christophe Philippe, Frederic Tran Mau-them, Julien Thevenon, Laurence Faivre, Christel Thauvin-Robinet, Antonio Vitobello
  • Otitis media susceptibility and shifts in the head and neck microbiome due to SPINK5 variants
    Daniel N. Frank, Arnaud P. J. Giese, Lena Hafren, Tori C. Bootpetch, Talitha Karisse L. Yarza, Matthew J. Steritz, Melquiadesa Pedro, Patrick John Labra, Kathleen A. Daly, Ma. Leah C. Tantoco, Wasyl Szeremeta, Maria Rina T. Reyes-Quintos, Niaz Ahankoob, Erasmo Gonzalo d.V. Llanes, Harold S. Pine, Sairah Yousaf, Diana Ir, Elisabet Einarsdottir, Rhodieleen Anne R. de la Cruz, Nanette R. Lee, Rachelle Marie A. Nonato, Charles E. Robertson, Kimberly Mae C. Ong, Jose Pedrito M. Magno, Alessandra Nadine E. Chiong, Ma. Carmina Espiritu-Chiong, Maria Luz San Agustin, Teresa Luisa G. Cruz, Generoso T. Abes, Michael J. Bamshad, Eva Maria Cutiongco-de la Paz, Juha Kere, Deborah A. Nickerson, Karen L. Mohlke, Saima Riazuddin, Abner Chan, Petri S. Mattila, Suzanne M. Leal, Allen F. Ryan, Zubair M. Ahmed, Tasnee Chonmaitree, Michele M. Sale, Charlotte M. Chiong, Regie Lyn P. Santos-Cortez
  • Heritable genetic variants in key cancer genes link cancer risk with anthropometric traits
    Matteo Di Giovannantonio, Benjamin HL Harris, Ping Zhang, Isaac Kitchen-Smith, Lingyun Xiong, Natasha Sahgal, Giovanni Stracquadanio, Marsha Wallace, Sarah Blagden, Simon Lord, David Harris, Adrian H.L. Harris, Francesca M. Buffa, Gareth L. Bond
  • Rare and de novo duplications containing SHOX in clubfoot
    Brooke Sadler, Gabe Haller, Lilian Antunes, Momchil Nikolov, Ina Amarillo, Bradley Coe, Matthew B. Dobbs, Christina A. Gurnett
  • Prevalence and associated phenotypes of DUSP6, IL17RD and SPRY4 variants in a large Chinese cohort with isolated hypogonadotropic hypogonadism
    Meichao Men, Xinying Wang, Jiayu Wu, Wang Zeng, Fang Jiang, Ruizhi Zheng, Jia-Da Li
  • Multivariate genome-wide association study of rapid automatised naming and rapid alternating stimulus in Hispanic American and African–American youth
    Dongnhu Thuy Truong, Andrew Kenneth Adams, Steven Paniagua, Jan C Frijters, Richard Boada, Dina E Hill, Maureen W Lovett, E Mark Mahone, Erik G Willcutt, Maryanne Wolf, John C Defries, Alessandro Gialluisi, Clyde Francks, Simon E Fisher, Richard K Olson, Bruce F Pennington, Shelley D Smith, Joan Bosson-Heenan, Jeffrey R Gruen
  • Multitrait genome association analysis identifies new susceptibility genes for human anthropometric variation in the GCAT cohort
    Iván Galván-Femenía, Mireia Obón-Santacana, David Piñeyro, Marta Guindo-Martinez, Xavier Duran, Anna Carreras, Raquel Pluvinet, Juan Velasco, Laia Ramos, Susanna Aussó, J M Mercader, Lluis Puig, Manuel Perucho, David Torrents, Victor Moreno, Lauro Sumoy, Rafael de Cid
  • AMMECR1: a single point mutation causes developmental delay, midface hypoplasia and elliptocytosis
    Gaia Andreoletti, Eleanor G Seaby, Jennifer M Dewing, Ita O'Kelly, Katherine Lachlan, Rodney D Gilbert, Sarah Ennis
  • Meta-analysis of 49 549 individuals imputed with the 1000 Genomes Project reveals an exonic damaging variant in ANGPTL4 determining fasting TG levels
    Elisabeth M van Leeuwen, Aniko Sabo, Joshua C Bis, Jennifer E Huffman, Ani Manichaikul, Albert V Smith, Mary F Feitosa, Serkalem Demissie, Peter K Joshi, Qing Duan, Jonathan Marten, Jan B van Klinken, Ida Surakka, Ilja M Nolte, Weihua Zhang, Hamdi Mbarek, Ruifang Li-Gao, Stella Trompet, Niek Verweij, Evangelos Evangelou, Leo-Pekka Lyytikäinen, Bamidele O Tayo, Joris Deelen, Peter J van der Most, Sander W van der Laan, Dan E Arking, Alanna Morrison, Abbas Dehghan, Oscar H Franco, Albert Hofman, Fernando Rivadeneira, Eric J Sijbrands, Andre G Uitterlinden, Josyf C Mychaleckyj, Archie Campbell, Lynne J Hocking, Sandosh Padmanabhan, Jennifer A Brody, Kenneth M Rice, Charles C White, Tamara Harris, Aaron Isaacs, Harry Campbell, Leslie A Lange, Igor Rudan, Ivana Kolcic, Pau Navarro, Tatijana Zemunik, Veikko Salomaa, The LifeLines Cohort Study, Angad S Kooner, Jaspal S Kooner, Benjamin Lehne, William R Scott, Sian-Tsung Tan, Eco J de Geus, Yuri Milaneschi, Brenda W J H Penninx, Gonneke Willemsen, Renée de Mutsert, Ian Ford, Ron T Gansevoort, Marcelo P Segura-Lepe, Olli T Raitakari, Jorma S Viikari, Kjell Nikus, Terrence Forrester, Colin A McKenzie, Anton J M de Craen, Hester M de Ruijter, CHARGE Lipids Working Group, Gerard Pasterkamp, Harold Snieder, Albertine J Oldehinkel, P Eline Slagboom, Richard S Cooper, Mika Kähönen, Terho Lehtimäki, Paul Elliott, Pim van der Harst, J Wouter Jukema, Dennis O Mook-Kanamori, Dorret I Boomsma, John C Chambers, Morris Swertz, Samuli Ripatti, Ko Willems van Dijk, Veronique Vitart, Ozren Polasek, Caroline Hayward, James G Wilson, James F Wilson, Vilmundur Gudnason, Stephen S Rich, Bruce M Psaty, Ingrid B Borecki, Eric Boerwinkle, Jerome I Rotter, L Adrienne Cupples, Cornelia M van Duijn

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