Genetics

Investigating the combined effects of statins and exercise on skeletal muscle mitochondrial content and function, cardiorespiratory fitness and quality of life in individuals with dyslipidaemia: protocol for a randomised placebo-controlled trial
Tórur Sjúrðarson, Steen Larsen, Simon Birk Kjær Jensen, Jacob Bejder, Jan Rasmussen, Sanna á Borg, Jacobina Kristiansen, Jørgen Martin Meinhardsson, Helgi Winther Olsen, Helga Ellingsgaard, Jeppe F Vigh-Larsen, Nikolai B Nordsborg, Magni Mohr

BMJ Open Jun 2025, 15 (6) e101425; DOI: 10.1136/bmjopen-2025-101425
Functional vision tests as clinical trial outcome measures in ophthalmology: a scoping review
Shabnam Raji, Arun James Thirunavukarasu, Laura Jayne Taylor, Robert Edward MacLaren

BMJ Open May 2025, 15 (5) e097970; DOI: 10.1136/bmjopen-2024-097970
Protocol for an observational study to assess the impact of pharmacogenetics on outcomes in vascular surgery (PROSPER)
Kerry Anne Burke, Selman Mirza, Stuart Wright, Nicholas S Greaves, William G Newman, John H McDermott

BMJ Open May 2025, 15 (5) e088456; DOI: 10.1136/bmjopen-2024-088456
ARFID InitiativE Sweden (ARIES): study protocol for a large-scale genetic and registry-linked cohort study on avoidant/restrictive food intake disorder
Liv Hog, Bengt T Fundin, Erik Everett Palm, Annelie Billger, Cynthia M Bulik, Afrouz Abbaspour, Lisa Dinkler

BMJ Open Apr 2025, 15 (4) e095559; DOI: 10.1136/bmjopen-2024-095559
Cohort profile: the Genetics of Glucose regulation in Gestation and Growth (Gen3G) – a prospective prebirth cohort of mother–child pairs in Sherbrooke, Canada, 3-year and 5-year follow-up visits
Amélie Taschereau, Myriam Doyon, Mélina Arguin, Catherine Allard, Véronique Desgagné, Anne-Marie Cote, Éric Massé, Pierre-Étienne Jacques, Patrice Perron, Marie-France Hivert, Luigi Bouchard

BMJ Open Mar 2025, 15 (3) e093434; DOI: 10.1136/bmjopen-2024-093434
Korean patients with hereditary cancer: a prospective multicentre cohort study protocol exploring psychosocial and health outcomes
Jun-Kyu Kim, Mi-Ae Jang, Jong Eun Park, Dongju Won, Jung-Sook Ha, Kyoung-Bo Kim, Boyoung Park, Sun-Young Kong

BMJ Open Feb 2025, 15 (2) e093905; DOI: 10.1136/bmjopen-2024-093905
Global insight into rare disease and orphan drug definitions: a systematic literature review
Ghada Mohammed Abozaid, Katie Kerr, Hiba Alomary, Hussain A Al-Omar, Amy McKnight

BMJ Open Jan 2025, 15 (1) e086527; DOI: 10.1136/bmjopen-2024-086527
Diagnostic yield of cystic fibrosis from a South Australian monocentric cohort: a retrospective study
Jasmina Markulić, Maria Fuller

BMJ Open Jan 2025, 15 (1) e092209; DOI: 10.1136/bmjopen-2024-092209
Evaluation of the implementation in primary care of genetic testing for the screening of MODY2 (iMOgene): protocol for an implementation pilot study
Samuel Legeay, Marie-Eve Poitras, Vanessa Tremblay-Vaillancourt, Amélie Fournier, Luigi Bouchard, Josianne Leblanc, Philippe Caron, Catherine Savard, Nathalie Bettez, Karine Tremblay

BMJ Open Jan 2025, 15 (1) e089642; DOI: 10.1136/bmjopen-2024-089642
Integrating accelerometry, GPS, GIS and molecular data to investigate mechanistic pathways of the urban environmental exposome and cognitive outcomes in older adults: a longitudinal study protocol
Ruth F Hunter, Claire Cleland, Mike Trott, Sean O’Neill, Hüseyin Küçükali, Shay Mullineaux, Frank Kee, Jennifer M McKinley, Charlotte Neville, Leeanne O'Hara, Calum Marr, Michael McAlinden, Geraint Ellis, Amy McKnight, Jasper Schipperijn, Joanna McHugh Power, Trung Duong, Bernadette McGuinness

BMJ Open Dec 2024, 14 (12) e085318; DOI: 10.1136/bmjopen-2024-085318

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