Genetics of prostate cancer: a review of latest evidenceRose Hall, Elizabeth Bancroft, Nora Pashayan, Zsofia Kote-Jarai, Rosalind A Eeles
13 August 2024
Evidence for polygenic and oligogenic basis of Australian sporadic amyotrophic lateral sclerosisEmily P McCann, Lyndal Henden, Jennifer A Fifita, Katharine Y Zhang, Natalie Grima, Denis C Bauer, Sandrine Chan Moi Fat, Natalie A Twine, Roger Pamphlett, Matthew C Kiernan, Dominic B Rowe, Kelly L Williams, Ian P Blair
14 May 2020
Redefinition of familial intestinal gastric cancer: clinical and genetic perspectivesJoana Carvalho, Patricia Oliveira, Janine Senz, Celina São José, Samantha Hansford, Sara Pinto Teles, Marta Ferreira, Giovanni Corso, Hugo Pinheiro, Diana Lemos, Valeria Pascale, Franco Roviello, David Huntsman, Carla Oliveira
17 February 2020
De novo mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like featuresDaphné Lehalle, Pierre Vabres, Arthur Sorlin, Tatjana Bierhals, Magali Avila, Virginie Carmignac, Martin Chevarin, Erin Torti, Yuichi Abe, Tobias Bartolomaeus, Jill Clayton-Smith, Benjamin Cogné, Ivon Cusco, Laurence Duplomb, Eveline De Bont
See the full list of authors14 May 2020
Understanding polygenic models, their development and the potential application of polygenic scores in healthcareChantal Babb de Villiers, Mark Kroese, Sowmiya Moorthie
6 May 2020
Biallelic variants in MAATS1 encoding CFAP91, a calmodulin-associated and spoke-associated complex protein, cause severe astheno-teratozoospermia and male infertilityGuillaume Martinez, Julie Beurois, Denis Dacheux, Caroline Cazin, Marie Bidart, Zine-Eddine Kherraf, Derrick R Robinson, Véronique Satre, Gerald Le Gac, Chandran Ka, Isabelle Gourlaouen, Yann Fichou, Graciane Petre, Emmanuel Dulioust, Raoudha Zouari
See the full list of authors11 March 2020
Diagnostic exome sequencing in non-acquired focal epilepsies highlights a major role of GATOR1 complex genesMartin Krenn, Matias Wagner, Christoph Hotzy, Elisabeth Graf, Sandrina Weber, Theresa Brunet, Bettina Lorenz-Depiereux, Gregor Kasprian, Susanne Aull-Watschinger, Ekaterina Pataraia, Elisabeth Stogmann, Alexander Zimprich, Tim M Strom, Thomas Meitinger, Fritz Zimprich
21 February 2020
Variants in LRRC34 reveal distinct mechanisms for predisposition to papillary thyroid carcinomaDaniel Forrest Comiskey Jr., Huiling He, Sandya Liyanarachchi, Mehek S Sheikh, Luke K Genutis, Isabella V Hendrickson, Lianbo Yu, Pamela L Brock, Albert de la Chapelle
12 February 2020
Impacts of genomics on the health and social costs of intellectual disabilityBrett Doble, Deborah Schofield, Carey-Anne Evans, Tudor Groza, John S Mattick, Mike Field, Tony Roscioli
24 January 2020
SETD1B-associated neurodevelopmental disorderAlexandra Roston, Dan Evans, Harinder Gill, Margaret McKinnon, Bertrand Isidor, Benjamin Cogné, Jill Mwenifumbo, Clara van Karnebeek, Jianghong An, Steven J M Jones, Matthew Farrer, Michelle Demos, Mary Connolly, William T Gibson, CAUSES Study
See the full list of authors16 June 2020