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 StudySee the full list of authors
18 February 2021
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
22 January 2021
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
11 December 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 BontSee the full list of authors
24 November 2020
Understanding polygenic models, their development and the potential application of polygenic scores in healthcareChantal Babb de Villiers, Mark Kroese, Sowmiya Moorthie
23 October 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 ZouariSee the full list of authors
22 September 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
24 August 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
23 July 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
23 June 2020
CDK5RAP2 primary microcephaly is associated with hypothalamic, retinal and cochlear developmental defectsHala Nasser, Liza Vera, Monique Elmaleh-Bergès, Katharina Steindl, Pascaline Letard, Natacha Teissier, Anais Ernault, Fabien Guimiot, Alexandra Afenjar, Marie Laure Moutard, Delphine Héron, Yves Alembik, Martha Momtchilova, Paolo Milani, Nathalie KubisSee the full list of authors
21 May 2020
