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
Implementation of a primary-tertiary shared care model to improve the detection of familial hypercholesterolaemia (FH): a mixed methods pre-post implementation study protocolKaren Birkenhead, David Sullivan, Claire Trumble, Catherine Spinks, Shubha Srinivasan, Andrew Partington, Luke Elias, Charlotte Mary Hespe, Gabrielle Fleming, Stephen Li, Madeline Calder, Elizabeth Robertson, Ronald Trent, Mitchell N Sarkies
1 May 2024
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
