genetics

  • 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
  • Discovery of a frameshift mutation in podocalyxin-like (PODXL) gene, coding for a neural adhesion molecule, as causal for autosomal-recessive juvenile Parkinsonism
    Sumedha Sudhaman, Kameshwar Prasad, Madhuri Behari, Uday B Muthane, Ramesh C Juyal, BK Thelma
  • Identification of germline DICER1 mutations and loss of heterozygosity in familial Wilms tumour
    Timothy Blake Palculict, E Cristy Ruteshouser, Yu Fan, Wenyi Wang, Louise Strong, Vicki Huff
  • HSP110 T17 simplifies and improves the microsatellite instability testing in patients with colorectal cancer
    Olivier Buhard, Anaïs Lagrange, Agathe Guilloux, Chrystelle Colas, Mouna Chouchène, Kristell Wanherdrick, Florence Coulet, Erell Guillerm, Coralie Dorard, Laetitia Marisa, Adem Bokhari, Malorie Greene, Nizar El-Murr, Sahra Bodo, Martine Muleris, Isabelle Sourouille, Magali Svrcek, Pascale Cervera, Hélène Blanché, Jérémie H Lefevre, Yann Parc, Come Lepage, Caroline Chapusot, Anne-Marie Bouvier, Marie-Pierre Gaub, Janick Selves, Kerryn Garrett, Barry Iacopetta, Richie Soong, Richard Hamelin, Carmen Garrido, Olivier Lascols, Thierry André, Jean-François Fléjou, Ada Collura, Alex Duval
  • Multigene testing of moderate-risk genes: be mindful of the missense
    E L Young, B J Feng, A W Stark, F Damiola, G Durand, N Forey, T C Francy, A Gammon, W K Kohlmann, K A Kaphingst, S McKay-Chopin, T Nguyen-Dumont, J Oliver, A M Paquette, M Pertesi, N Robinot, J S Rosenthal, M Vallee, C Voegele, J L Hopper, M C Southey, I L Andrulis, E M John, M Hashibe, J Gertz, Breast Cancer Family Registry, F Le Calvez-Kelm, F Lesueur, D E Goldgar, S V Tavtigian
  • Clinical course of sly syndrome (mucopolysaccharidosis type VII)
    Adriana M Montaño, Ngu Lock-Hock, Robert D Steiner, Brett H Graham, Marina Szlago, Robert Greenstein, Mercedes Pineda, Antonio Gonzalez-Meneses, Mahmut Çoker, Dennis Bartholomew, Mark S Sands, Raymond Wang, Roberto Giugliani, Alfons Macaya, Gregory Pastores, Anastasia K Ketko, Fatih Ezgü, Akemi Tanaka, Laila Arash, Michael Beck, Rena E Falk, Kaustuv Bhattacharya, José Franco, Klane K White, Grant A Mitchell, Loreta Cimbalistiene, Max Holtz, William S Sly
  • Variable brain phenotype primarily affects the brainstem and cerebellum in patients with osteogenesis imperfecta caused by recessive WNT1 mutations
    Kimberly A Aldinger, Nancy J Mendelsohn, Brian HY Chung, Wenjuan Zhang, Daniel H Cohn, Bridget Fernandez, Fowzan S Alkuraya, William B Dobyns, Cynthia J Curry
  • Cystic cerebellar dysplasia and biallelic LAMA1 mutations: a lamininopathy associated with tics, obsessive compulsive traits and myopia due to cell adhesion and migration defects
    Thierry Vilboux, May Christine V Malicdan, Yun Min Chang, Jennifer Guo, Patricia M Zerfas, Joshi Stephen, Andrew R Cullinane, Joy Bryant, Roxanne Fischer, Brian P Brooks, Wadih M Zein, Edythe A Wiggs, Christopher K Zalewski, Andrea Poretti, Melanie M Bryan, Meghana Vemulapalli, James C Mullikin, Martha Kirby, Stacie M Anderson, NISC Comparative Sequencing Program, Marjan Huizing, Camilo Toro, William A Gahl, Meral Gunay-Aygun
  • A specific mutation in TBL1XR1 causes Pierpont syndrome
    Charlotte A Heinen, Aldo Jongejan, Peter J Watson, Bert Redeker, Anita Boelen, Olga Boudzovitch-Surovtseva, Francesca Forzano, Roel Hordijk, Richard Kelley, Ann H Olney, Mary Ella Pierpont, G Bradley Schaefer, Fiona Stewart, A S Paul van Trotsenburg, Eric Fliers, John W R Schwabe, Raoul C Hennekam
  • Constitutional or biallelic? Settling on a name for a recessively inherited cancer susceptibility syndrome
    Katharina Wimmer, Laurence Brugières, Alex Duval, Martine Muleris, Christian P Kratz, Hans F A Vasen

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