NON-CLINICAL

  • Mutations in HECW2 are associated with intellectual disability and epilepsy
    Jonatan Halvardson, Jin J Zhao, Ammar Zaghlool, Christian Wentzel, Patrik Georgii-Hemming, Else Månsson, Helena Ederth Sävmarker, Göran Brandberg, Cecilia Soussi Zander, Ann-Charlotte Thuresson, Lars Feuk
  • Functional and genetic epidemiological characterisation of the FFAR4 (GPR120) p.R270H variant in the Danish population
    Marie A Vestmar, Ehm A Andersson, Charlotte R Christensen, Maria Hauge, Charlotte Glümer, Allan Linneberg, Daniel R Witte, Marit E Jørgensen, Cramer Christensen, Ivan Brandslund, Torsten Lauritzen, Oluf Pedersen, Birgitte Holst, Niels Grarup, Thue W Schwartz, Torben Hansen
  • A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype
    Charlotte L Alston, Caoimhe Howard, Monika Oláhová, Steven A Hardy, Langping He, Philip G Murray, Siobhan O'Sullivan, Gary Doherty, Julian P H Shield, Iain P Hargreaves, Ardeshir A Monavari, Ina Knerr, Peter McCarthy, Andrew A M Morris, David R Thorburn, Holger Prokisch, Peter E Clayton, Robert McFarland, Joanne Hughes, Ellen Crushell, Robert W Taylor
  • 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
  • Cluster-randomised non-inferiority trial comparing DVD-assisted and traditional genetic counselling in systematic population testing for BRCA1/2 mutations
    Ranjit Manchanda, Matthew Burnell, Kelly Loggenberg, Rakshit Desai, Jane Wardle, Saskia C Sanderson, Sue Gessler, Lucy Side, Nyala Balogun, Ajith Kumar, Huw Dorkins, Yvonne Wallis, Cyril Chapman, Ian Tomlinson, Rohan Taylor, Chris Jacobs, Rosa Legood, Maria Raikou, Alistair McGuire, Uziel Beller, Usha Menon, Ian Jacobs
  • 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
  • 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
  • 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
  • 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
  • Epigenetic inheritance of telomere length obscures identification of causative PARN locus
    Chao Xing, Christine Kim Garcia

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