Loss of function mutation

  • Germline mutations in WNK2 could be associated with serrated polyposis syndrome
    Yasmin Soares de Lima, Coral Arnau-Collell, Jenifer Muñoz, Cristina Herrera-Pariente, Leticia Moreira, Teresa Ocaña, Marcos Díaz-Gay, Sebastià Franch-Expósito, Miriam Cuatrecasas, Sabela Carballal, Anael Lopez-Novo, Lorena Moreno, Guerau Fernàndez, Aranzazu Díaz de Bustamante, Sophia Peters, Anna K Sommer, Isabel Spier, Iris B A W te Paske, Yasmijn J van Herwaarden, Antoni Castells, Luis Bujanda, Gabriel Capellà, Verena Steinke-Lange, Khalid Mahmood, JiHoon Eric Joo, Julie Arnold, Susan Parry, Finlay A Macrae, Ingrid M Winship, Christophe Rosty, Joaquin Cubiella, Daniel Rodríguez-Alcalde, Elke Holinski-Feder, Richarda de Voer, Daniel D Buchanan, Stefan Aretz, Clara Ruiz-Ponte, Laura Valle, Francesc Balaguer, Laia Bonjoch, Sergi Castellvi-Bel
  • Comprehensive RNA and protein functional assessments contribute to the clinical interpretation of MSH2 variants causing in-frame splicing alterations
    Laëtitia Meulemans, Stéphanie Baert Desurmont, Marie-Christine Waill, Gaia Castelain, Audrey Killian, Julie Hauchard, Thierry Frebourg, Florence Coulet, Alexandra Martins, Martine Muleris, Pascaline Gaildrat
  • Practice guidelines for BRCA1/2 tumour testing in ovarian cancer
    Daria Grafodatskaya, Darren D O’Rielly, Karine Bedard, Darci T Butcher, Christopher J Howlett, Alice Lytwyn, Elizabeth McCready, Jillian Parboosingh, Elizabeth L Spriggs, Andrea K Vaags, Tracy L Stockley
  • Functional analysis of TLK2 variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis
    Lisa Pavinato, Marina Villamor-Payà, Maria Sanchiz-Calvo, Cristina Andreoli, Marina Gay, Marta Vilaseca, Gianluca Arauz-Garofalo, Andrea Ciolfi, Alessandro Bruselles, Tommaso Pippucci, Valentina Prota, Diana Carli, Elisa Giorgio, Francesca Clementina Radio, Vincenzo Antona, Mario Giuffrè, Kara Ranguin, Cindy Colson, Silvia De Rubeis, Paola Dimartino, Joseph D Buxbaum, Giovanni Battista Ferrero, Marco Tartaglia, Simone Martinelli, Travis H Stracker, Alfredo Brusco
  • Biallelic ANGPT2 loss-of-function causes severe early-onset non-immune hydrops fetalis
    Marie F. Smeland, Pascal Brouillard, Trine Prescott, Laurence M Boon, Bodil Hvingel, Cecilie V Nordbakken, Mona Nystad, Øystein L. Holla, Miikka Vikkula
  • Bi-allelic SHOC1 loss-of-function mutations cause meiotic arrest and non-obstructive azoospermia
    Chencheng Yao, Chao Yang, Liangyu Zhao, Peng Li, Ruhui Tian, Huixing Chen, Ying Guo, Yuhua Huang, Erlei Zhi, Jing Zhai, Hongfang Sun, Jianxiong Zhang, Yan Hong, Li Zhang, Zhiyong Ji, Feng Zhang, Zhi Zhou, Zheng Li