CLINICAL

  • 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
  • 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
  • Deficiency of the alkaline ceramidase ACER3 manifests in early childhood by progressive leukodystrophy
    Simon Edvardson, Jae Kyo Yi, Chaim Jalas, Ruijuan Xu, Bryn D Webb, Justin Snider, Anastasia Fedick, Elisheva Kleinman, Nathan R Treff, Cungui Mao, Orly Elpeleg
  • UNC80 mutation causes a syndrome of hypotonia, severe intellectual disability, dyskinesia and dysmorphism, similar to that caused by mutations in its interacting cation channel NALCN
    Yonatan Perez, Rotem Kadir, Michael Volodarsky, Iris Noyman, Hagit Flusser, Zamir Shorer, Libe Gradstein, Ramon Y Birnbaum, Ohad S Birk
  • 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
  • Mutations in EXOSC2 are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestalt
    Nataliya Di Donato, Teresa Neuhann, Anne-Karin Kahlert, Barbara Klink, Karl Hackmann, Irmingard Neuhann, Barbora Novotna, Jens Schallner, Claudia Krause, Ian A Glass, Shawn E Parnell, Anna Benet-Pages, Anke M Nissen, Wolfgang Berger, Janine Altmüller, Holger Thiele, Bernhard H F Weber, Evelin Schrock, William B Dobyns, Andrea Bier, Andreas Rump
  • 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
  • Combination of palmoplantar keratoderma and hair shaft anomalies, the warning signal of severe arrhythmogenic cardiomyopathy: a systematic review on genetic desmosomal diseases
    Laura Polivka, Christine Bodemer, Smail Hadj-Rabia
  • Risky business: getting a grip on BRIP
    Victoria Sopik, William D Foulkes
  • No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing
    Douglas F Easton, Fabienne Lesueur, Brennan Decker, Kyriaki Michailidou, Jun Li, Jamie Allen, Craig Luccarini, Karen A Pooley, Mitul Shah, Manjeet K Bolla, Qin Wang, Joe Dennis, Jamil Ahmad, Ella R Thompson, Francesca Damiola, Maroulio Pertesi, Catherine Voegele, Noura Mebirouk, Nivonirina Robinot, Geoffroy Durand, Nathalie Forey, Robert N Luben, Shahana Ahmed, Kristiina Aittomäki, Hoda Anton-Culver, Volker Arndt, Australian Ovarian Cancer Study Group, Caroline Baynes, Matthias W Beckman, Javier Benitez, David Van Den Berg, William J Blot, Natalia V Bogdanova, Stig E Bojesen, Hermann Brenner, Jenny Chang-Claude, Kee Seng Chia, Ji-Yeob Choi, Don M Conroy, Angela Cox, Simon S Cross, Kamila Czene, Hatef Darabi, Peter Devilee, Mikael Eriksson, Peter A Fasching, Jonine Figueroa, Henrik Flyger, Florentia Fostira, Montserrat García-Closas, Graham G Giles, Gord Glendon, Anna González-Neira, Pascal Guénel, Christopher A Haiman, Per Hall, Steven N Hart, Mikael Hartman, Maartje J Hooning, Chia-Ni Hsiung, Hidemi Ito, Anna Jakubowska, Paul A James, Esther M John, Nichola Johnson, Michael Jones, Maria Kabisch, Daehee Kang, kConFab Investigators, Veli-Matti Kosma, Vessela Kristensen, Diether Lambrechts, Na Li, Lifepool Investigators, Annika Lindblom, Jirong Long, Artitaya Lophatananon, Jan Lubinski, Arto Mannermaa, Siranoush Manoukian, Sara Margolin, Keitaro Matsuo, Alfons Meindl, Gillian Mitchell, Kenneth Muir, NBCS Investigators, Ines Nevelsteen, Ans van den Ouweland, Paolo Peterlongo, Sze Yee Phuah, Katri Pylkäs, Simone M Rowley, Suleeporn Sangrajrang, Rita K Schmutzler, Chen-Yang Shen, Xiao-Ou Shu, Melissa C Southey, Harald Surowy, Anthony Swerdlow, Soo H Teo, Rob A E M Tollenaar, Ian Tomlinson, Diana Torres, Thérèse Truong, Celine Vachon, Senno Verhoef, Michelle Wong-Brown, Wei Zheng, Ying Zheng, Heli Nevanlinna, Rodney J Scott, Irene L Andrulis, Anna H Wu, John L Hopper, Fergus J Couch, Robert Winqvist, Barbara Burwinkel, Elinor J Sawyer, Marjanka K Schmidt, Anja Rudolph, Thilo Dörk, Hiltrud Brauch, Ute Hamann, Susan L Neuhausen, Roger L Milne, Olivia Fletcher, Paul D P Pharoah, Ian G Campbell, Alison M Dunning, Florence Le Calvez-Kelm, David E Goldgar, Sean V Tavtigian, Georgia Chenevix-Trench

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