Genetics and genomics

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 protocol
Stephanie 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

BMJ Open Jul 2023, 13 (7) e071492; DOI: 10.1136/bmjopen-2022-071492
Randomised double-blind controlled trial of non-invasive preimplantation genetic testing for aneuploidy in in vitro fertilisation: a protocol paper
Hiu Yee Heidi Cheng, Judy F C Chow, Kevin K W Lam, Shui Fan Lai, William Shu Biu Yeung, Ernest H Y Ng

BMJ Open Jul 2023, 13 (7) e072557; DOI: 10.1136/bmjopen-2023-072557
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 protocol
Sophie 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 Vears, Stephanie Best, Marc Clausen, Yvonne Bombard, Zornitza Stark, Clara L Gaff

BMJ Open Jun 2023, 13 (6) e072999; DOI: 10.1136/bmjopen-2023-072999
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 study
Noemi 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 Ajuyah, Ann-Kristin Altekoester, Vanessa J Tyrrell, Loretta M S Lau, Claire Wakefield, Dianne Sylvester, Katherine Tucker, Mark Pinese, Luciano Dalla Pozza, Tracey A O’Brien

BMJ Open May 2023, 13 (5) e070082; DOI: 10.1136/bmjopen-2022-070082
Implementation of a culturally competent APOL1 genetic testing programme into living donor evaluation: A two-site, non-randomised, pre–post trial design
Justin D Smith, Akansha Agrawal, Catherine Wicklund, Debra Duquette, John Friedewald, Luke V Rasmussen, Jessica Gacki-Smith, S. Darius Tandon, Lutfiyya N Muhammad, Clyde W Yancy, Siyuan Dong, Matthew Cooper, Alexander Gilbert, Aneesha Shetty, Elisa J Gordon

BMJ Open May 2023, 13 (5) e067657; DOI: 10.1136/bmjopen-2022-067657
Genetic and genomic nursing competency among nurses in tertiary general hospitals and cancer hospitals in mainland China: a nationwide survey
Xiaomin Zhao, Xuying LI, Yi Liu, Kathleen Calzone, Juan Xu, Xueling Xiao, Honghong Wang

BMJ Open Dec 2022, 12 (12) e066296; DOI: 10.1136/bmjopen-2022-066296
Epidemiology, aetiology, interventions and genomics in children with arthrogryposis multiplex congenita: protocol for a multisite registry
Noémi Dahan-Oliel, Harold van Bosse, Vasiliki Betty Darsaklis, Frank Rauch, Tanya Bedard, Ghalib Bardai, Michelle James, Ellen Raney, Krister Freese, Lauren Hyer, Haluk Altiok, Jonathan Pellett, Philip Giampietro, Judith Hall, Reggie Charles Hamdy

BMJ Open Oct 2022, 12 (10) e060591; DOI: 10.1136/bmjopen-2021-060591
Positioning whole exome sequencing in the diagnostic pathway for rare disease to optimise utility: a protocol for an observational cohort study and an economic evaluation
Robin Z Hayeems, Francois Bernier, Kym M Boycott, Taila Hartley, Christine Michaels-Igbokwe, Deborah A Marshall

BMJ Open Oct 2022, 12 (10) e061468; DOI: 10.1136/bmjopen-2022-061468
Implementation of genetic screening test to reduce the incidence of dapsone hypersensitivity syndrome among patients with leprosy in Papua, Indonesia: a study protocol
Hana Krismawati, Astri Ferdiana, Astrid Irwanto, Teky Budiawan, Clara Imaniar, Tri Wahyuni, Pushpendra Singh, Liesbeth Mieras, Arry Pongtiku

BMJ Open May 2022, 12 (5) e057173; DOI: 10.1136/bmjopen-2021-057173
Genetics Adviser: a protocol for a mixed-methods randomised controlled trial evaluating a digital platform for genetics service delivery
Salma Shickh, Daena Hirjikaka, Marc Clausen, Rita Kodida, Chloe Mighton, Emma Reble, Jordan Sam, Seema Panchal, Melyssa Aronson, Tracy Graham, Susan Randall Armel, Emily Glogowski, Christine Elser, Andrea Eisen, June C Carroll, Cheryl Shuman, Emily Seto, Nancy N Baxter, Adena Scheer, Serena Shastri-Estrada, Geoff Feldman, Kevin E Thorpe, Kasmintan A Schrader, Jordan Lerner-Ellis, Raymond H Kim, Hanna Faghfoury, Yvonne Bombard

BMJ Open Apr 2022, 12 (4) e060899; DOI: 10.1136/bmjopen-2022-060899

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