genetics

  • Genes associated with common variable immunodeficiency: one diagnosis to rule them all?
    Delfien J A Bogaert, Melissa Dullaers, Bart N Lambrecht, Karim Y Vermaelen, Elfride De Baere, Filomeen Haerynck
  • Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes
    Susanne Roosing, Marta Romani, Mala Isrie, Rasim Ozgur Rosti, Alessia Micalizzi, Damir Musaev, Tommaso Mazza, Lihadh Al-gazali, Umut Altunoglu, Eugen Boltshauser, Stefano D'Arrigo, Bart De Keersmaecker, Hülya Kayserili, Sarah Brandenberger, Ichraf Kraoua, Paul R Mark, Trudy McKanna, Joachim Van Keirsbilck, Philippe Moerman, Andrea Poretti, Ratna Puri, Hilde Van Esch, Joseph G Gleeson, Enza Maria Valente
  • A detailed clinical analysis of 13 patients with AUTS2 syndrome further delineates the phenotypic spectrum and underscores the behavioural phenotype
    Gea Beunders, Jiddeke van de Kamp, Pradeep Vasudevan, Jenny Morton, Katrien Smets, Tjitske Kleefstra, Sonja A de Munnik, Janneke Schuurs-Hoeijmakers, Berten Ceulemans, Marcella Zollino, Sabine Hoffjan, Stefan Wieczorek, Joyce So, Leanne Mercer, Tanya Walker, Lea Velsher, the DDD study, Michael J Parker, Alex C Magee, Bart Elffers, R Frank Kooy, Helger G Yntema, Elizabeth J Meijers-Heijboer, Erik A Sistermans
  • Evidence of mutations in RIC3 acetylcholine receptor chaperone as a novel cause of autosomal-dominant Parkinson's disease with non-motor phenotypes
    Sumedha Sudhaman, Uday B Muthane, Madhuri Behari, Shyla T Govindappa, Ramesh C Juyal, B K Thelma
  • Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy
    Cyril Mignot, Celina von Stülpnagel, Caroline Nava, Dorothée Ville, Damien Sanlaville, Gaetan Lesca, Agnès Rastetter, Benoit Gachet, Yannick Marie, G Christoph Korenke, Ingo Borggraefe, Dorota Hoffmann-Zacharska, Elżbieta Szczepanik, Mariola Rudzka-Dybała, Uluç Yiş, Hande Çağlayan, Arnaud Isapof, Isabelle Marey, Eleni Panagiotakaki, Christian Korff, Eva Rossier, Angelika Riess, Stefanie Beck-Woedl, Anita Rauch, Christiane Zweier, Juliane Hoyer, André Reis, Mikhail Mironov, Maria Bobylova, Konstantin Mukhin, Laura Hernandez-Hernandez, Bridget Maher, Sanjay Sisodiya, Marius Kuhn, Dieter Glaeser, Sarah Weckhuysen, Candace T Myers, Heather C Mefford, Konstanze Hörtnagel, Saskia Biskup, EuroEPINOMICS-RES MAE working group, Johannes R Lemke, Delphine Héron, Gerhard Kluger, Christel Depienne
  • 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

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