Complex traits

  • 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
  • Local genotype influences DNA methylation at two asthma-associated regions, 5q31 and 17q21, in a founder effect population
    Abeer Al Tuwaijri, Valérie Gagné-Ouellet, Anne-Marie Madore, Catherine Laprise, Anna K Naumova
  • The regulatory element READ1 epistatically influences reading and language, with both deleterious and protective alleles
    Natalie R Powers, John D Eicher, Laura L Miller, Yong Kong, Shelley D Smith, Bruce F Pennington, Erik G Willcutt, Richard K Olson, Susan M Ring, Jeffrey R Gruen
  • Loss-of-function de novo mutations play an important role in severe human neural tube defects
    Philippe Lemay, Marie-Claude Guyot, Élizabeth Tremblay, Alexandre Dionne-Laporte, Dan Spiegelman, Édouard Henrion, Ousmane Diallo, Patrizia De Marco, Elisa Merello, Christine Massicotte, Valérie Désilets, Jacques L Michaud, Guy A Rouleau, Valeria Capra, Zoha Kibar
  • DCAF4, a novel gene associated with leucocyte telomere length
    Massimo Mangino, Lene Christiansen, Rivka Stone, Steven C Hunt, Kent Horvath, Dan T A Eisenberg, Masayuki Kimura, Inge Petersen, Jeremy D Kark, Utz Herbig, Alex P Reiner, Athanase Benetos, Veryan Codd, Dale R Nyholt, Ronit Sinnreich, Kaare Christensen, Hisham Nassar, Shih-Jen Hwang, Daniel Levy, Veronique Bataille, Annette L Fitzpatrick, Wei Chen, Gerald S Berenson, Nilesh J Samani, Nicholas G Martin, Sarah Tishkoff, Nicholas J Schork, Kirsten Ohm Kyvik, Christine Dalgård, Timothy D Spector, Abraham Aviv
  • Evidence of digenic inheritance in Alport syndrome
    Maria Antonietta Mencarelli, Laurence Heidet, Helen Storey, Michel van Geel, Bertrand Knebelmann, Chiara Fallerini, Nunzia Miglietti, Maria Fatima Antonucci, Francesco Cetta, John A Sayer, Arthur van den Wijngaard, Shu Yau, Francesca Mari, Mirella Bruttini, Francesca Ariani, Karin Dahan, Bert Smeets, Corinne Antignac, Frances Flinter, Alessandra Renieri
  • Case-only exome sequencing and complex disease susceptibility gene discovery: study design considerations
    Lang Wu, Daniel J Schaid, Hugues Sicotte, Eric D Wieben, Hu Li, Gloria M Petersen
  • Intake levels of dietary polyunsaturated fatty acids modify the association between the genetic variation in PCSK5 and HDL cholesterol
    Han Byul Jang, Joo-Yeon Hwang, Ji Eun Park, Ji Hee Oh, YounJhin Ahn, Jae-Heon Kang, Kyung-Hee Park, Bok-Ghee Han, Bong Jo Kim, Sang Ick Park, Hye-Ja Lee
  • Rare and low-frequency variants in human common diseases and other complex traits
    Guillaume Lettre

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