Patient preferences in genetic newborn screening for rare diseases: study protocolSylvia MARTIN, Emanuele Angolini, Jennifer Audi, Enrico Bertini, Lucia Pia Bruno, Joshua Coulter, Alessandra Ferlini, Fernanda Fortunato, Vera Frankova, Nicolas Garnier, Åsa Grauman, Edith Gross, Brett Hauber, Mats Hansson, Janbernd KirschnerSee the full list of authors
19 April 2024
Linking genetic counseling communication skills to patient outcomes and experiences using a community-engagement and provider-engagement approach: research protocol for the GC-PRO mixed methods sequential explanatory studyElena R Fisher, Deborah Cragun, Robert F Dedrick, Crystal Y Lumpkins, Mariana Ramírez, Kimberly A Kaphingst, Ashley Petersen, Ian M MacFarlane, Krista Redlinger-Grosse, Abdirashid Shire, Kathleen A Culhane-Pera, Heather A Zierhut
17 April 2024
Prospective cohort study of genomic newborn screening: BabyScreen+ pilot study protocolSebastian Lunke, Sophie E Bouffler, Lilian Downie, Jade Caruana, David J Amor, Alison Archibald, Yvonne Bombard, John Christodoulou, Marc Clausen, Paul De Fazio, Ronda F Greaves, Sebastian Hollizeck, Anaita Kanga-Parabia, Nitzan Lang, Fiona LynchSee the full list of authors
3 April 2024
Implementation of rapid genomic sequencing in safety-net neonatal intensive care units: protocol for the VIrtual GenOme CenteR (VIGOR) proof-of-concept studyAlissa M D'Gama, Sonia Hills, Jessica Douglas, Vanessa Young, Casie A Genetti, Monica H Wojcik, Henry A Feldman, Timothy W Yu, Margaret G Parker, Pankaj B Agrawal, , VIGOR Network, Pankaj Agrawal, Tyler Allcroft, Vineet BhandariSee the full list of authors
6 February 2024
Development of a microcosting protocol to determine the economic cost of diagnostic genomic testing for rare diseases in AustraliaDylan A Mordaunt, Zornitza Stark, Francisco Santos Gonzalez, Kim Dalziel, Ilias Goranitis
29 November 2023
Swedish multimodal cohort of patients with anxiety or depression treated with internet-delivered psychotherapy (MULTI-PSYCH)Julia Boberg, Viktor Kaldo, David Mataix-Cols, James J Crowley, Bjorn Roelstraete, Matthew Halvorsen, Erik Forsell, Nils H Isacsson, Patrick F Sullivan, Cecilia Svanborg, Evelyn H Andersson, Nils Lindefors, Olly Kravchenko, Manuel Mattheisen, Hilda B DanielsdottirSee the full list of authors
4 October 2023
Development of a person-centred digital platform for the long-term support of people living with an adult-onset genetic disease predisposition: a mixed-methods study protocolStephanie Best, Abdullah Al Mahmud, Shivani Tyagi, Jack C W Wheeler, Abdur Rahim Mohammad Forkan, Alexandra Lewis, Nadeem Shuakat, Rohit Kaul, Aisha Ward, Nilmini Wickramasinghe, Prem Prakash Jayaraman, Alison H Trainer
30 July 2023
Randomised double-blind controlled trial of non-invasive preimplantation genetic testing for aneuploidy in in vitro fertilisation: a protocol paperHiu Yee Heidi Cheng, Judy F C Chow, Kevin K W Lam, Shui Fan Lai, William Shu Biu Yeung, Ernest H Y Ng
27 July 2023
Two-step offer and return of multiple types of additional genomic findings to families after ultrarapid trio genomic testing in the acute care setting: a study protocolSophie E Bouffler, Ling Lee, Fiona Lynch, Melissa Martyn, Elly Lynch, Ivan Macciocca, Lisette Curnow, Giulia McCorkell, Sebastian Lunke, Belinda Chong, Justine E Marum, Martin Delatycki, Lilian Downie, Ilias Goranitis, Danya F VearsSee the full list of authors
2 June 2023
Protocol for a comprehensive prospective cohort study of trio-based whole-genome sequencing for underlying cancer predisposition in paediatric and adolescent patients newly diagnosed with cancer: the PREDICT studyNoemi Auxiliadora Fuentes Bolanos, Bhavna Padhye, Macabe Daley, Jacqueline Hunter, Kate Hetherington, Meera Warby, Eliza Courtney, Judy Kirk, Sarah Josephi-Taylor, Yuyan Chen, Frank Alvaro, Kristine Barlow-Stewart, Marie Wong-Erasmus, Paulette Barahona, Pamela AjuyahSee the full list of authors
30 May 2023