A phase II double-blind multicentre, placebo-controlled trial to assess the efficacy and safety of alpelisib (BYL719) in paediatric and adult patients with Megalencephaly-CApillary malformation Polymicrogyria syndrome (MCAP): the SESAM study protocolMaxime Luu, Pierre Vabres, Aurélie Espitalier, Agnès Maurer, Aurore Garde, Caroline Racine, Maud Carpentier, Adélaide Rega, Romaric Loffroy, Nawale Hadouiri, Nathalie Boddaert, Aurore Curie, Laurent Guibaud, Mouna Chebbi, Julie CharlignySee the full list of authors
20 December 2024
Who has the responsibility to inform relatives at risk of hereditary cancer? A population-based survey in SwedenKalle Grill, Amicia Phillips, Barbro Numan Hellquist, Anna Rosén
27 November 2024
Development of the Ontario Hereditary Cancer Research Network, a unified registry as a resource for individuals with inherited cancer syndromes: an observational registry creation protocolKirsten M Farncombe, Lauren K Hughes, Elif Tuzlali, Mohammad Reza Akbari, Irene L Andrulis, Melyssa Aronson, Kathleen Bell, Michelle D Brazas, Melissa Cable-Cibula, Brandon Chan, Melanie Courtot, Harriet Feilotter, Jamie Harland, Katie Lark, Jordan Lerner-EllisSee the full list of authors
24 November 2024
Scoping review of enablers and challenges of implementing pharmacogenomics testing in the primary care settingsChun-Wai Mai, Sathvik B Sridhar, Mohammed Salim Karattuthodi, Perishithaa M Ganesan, Javedh Shareef, E Lyn Lee, Keivan Armani
5 November 2024
Experiences across a genetic screening and testing programme pathway: a qualitative study of mammogram patient perspectivesClaire Devine, Kate R Emery, Kimberly K Childers, Sandra Brown, Ora Gordon, Sarah E Roth
23 October 2024
Perceptions of genomic newborn screening: a cross-sectional survey conducted with UK medical studentsLydia Seed, Anna Scott, Amanda Pichini, Michelle Peter, Shereen Tadros, Cristine Sortica da Costa, Melissa Hill
24 September 2024
Genetics Navigator: protocol for a mixed methods randomized controlled trial evaluating a digital platform to deliver genomic services in Canadian pediatric and adult populationsGuylaine D'Amours, Marc Clausen, Stephanie Luca, Emma Reble, Rita Kodida, Daniel Assamad, Francois Bernier, Lauren Chad, Gregory Costain, Irfan Dhalla, Hanna Faghfoury, Jan M Friedman, Stacy Hewson, Trevor Jamieson, Josh SilverSee the full list of authors
3 September 2024
Using polygenic risk modification to improve breast cancer prevention: study protocol for the PRiMo multicentre randomised controlled trialSimone McInerny, Lyon Mascarenhas, Tatiane Yanes, Lara Petelin, Georgia Chenevix-Trench, Melissa C Southey, Mary-Anne Young, Paul A James
5 August 2024
European Autism GEnomics Registry (EAGER): protocol for a multicentre cohort study and registryMadeleine Bloomfield, Alexandra Lautarescu, Síofra Heraty, Sarah Douglas, Pierre Violland, Roderik Plas, Anjuli Ghosh, Katrien Van den Bosch, Eliza Eaton, Michael Absoud, Roberta Battini, Ana Blázquez Hinojosa, Nadia Bolshakova, Sven Bölte, Paolo BonanniSee the full list of authors
4 June 2024
Improving the care of children with GENetic Rare disease: Observational Cohort study (GenROC)—a study protocolKaren Jaqueline Low, Amy Watford, Peter Blair, Ian Nabney, John Powell, Sarah L Wynn, Julia Foreman, Helen Firth, Jenny Ingram
16 May 2024
