Medicine and Health Sciences Commons^™

A Snapping Surprise, Brian Chan Do, Elliot L Busch Dpm, Megan Ferderber Md

Fellows and Residents

No abstract provided.

Developing A Portable Ultrasound Quick Guide To Enhance Point-Of-Care Training In Primary Care, Gurpreet Bharaj Md, Solomon Saul Do

Fellows and Residents

No abstract provided.

The Kidney Connection: Sepsis In Hospitalized Lupus, Muhammad Usman Zafar Md, Syeda Haris Mustafa Zaidi Md, Ansar Aziz Md, Sejal Lakhani Do, Courtney Hill Do

Fellows and Residents

No abstract provided.

Importance Of Strength Training To Prevent Secondary Lower Limb Musculoskeletal Injury In Military Personnel, Peter Ladlow, Russell J. Coppack, Robyn P. Cassidy, Rachel Rodgers, Robert Barker-Davies, Paul Comfort, Nicholas J. Ripley, Christopher Bramah, Colin Suffield, Debra Hayhurst, Marina De Vecchis, Samual R. Higgins, Alexander N. Bennett, Oliver O’Sullivan

Research outputs 2022 to 2026

Considerable operational and financial costs are associated with musculoskeletal injury (MSKI) across military organisations. Following an MSKI, reaching ‘medically fully deployable’ status is often contingent on meeting physical employment standards. Strength training has a critical role to play in military physical preparation, injury mitigation and guiding rehabilitation practice. Low levels of muscle strength are associated with increased MSKI risk, and previous MSKI is a leading risk factor for re-injury. When an MSKI does occur, it is essential that all attempts to mitigate the risk of secondary MSKI are met. Maximal force (muscle strength) and rapid force (rate of force development …

International Cardiac Advanced Life Support Course: A Cross-Sectional Descriptive Analysis, Nilufeur Mckay, Jody Ede, Jessica Stokes-Parish, Adrian Levine, Helen Walthall, Debbie Massey

Research outputs 2022 to 2026

Background: Recognising and responding to cardiac surgical deterioration requires a systematic, structured approach that encompasses monitoring, identifying and managing signs and symptoms of post-surgical complications. Cardiac Advanced Life Support (CALS) was originally developed in recognition of this educational requirement and consists of a series of protocols aimed at supporting clinicians’ recognition and response to the deteriorating cardiac surgical patient. Aim: The aim of this analysis was to evaluate participant perceptions of a CALS course using a descriptive online survey. Design: A cross-sectional analysis of post-course online survey responses assessing participant’ perceptions of the CALS course. Results: 331 surveys were returned …

Intravenous Infusion Of Nicotinamide Adenine Dinucleotide (Nad+) Versus Nicotinamide Riboside (Nr): A Retrospective Tolerability Pilot Study In A Real-World Setting, Kirsten Reyna, Greer Heinzen, Nikita Patel, Marie Ritter, Alexandra Siojo, Henry Legere, Rachele Pojednic

Research outputs 2022 to 2026

Background: Nicotinamide adenine dinucleotide (NAD⁺) is a cofactor for NAD⁺-dependent enzymes that regulate DNA repair, cellular metabolism, and immune function. Supplementation with NAD⁺ and its precursors is commonly used to prevent age-related disease and extend healthspan. Commercial clinical and wellness settings increasingly provide intravenous (IV) NAD⁺ and nicotinamide riboside (NR) despite limited evaluation of safety and effectiveness. These considerations are important, as NAD⁺ and its precursors differ in reported side effects, cellular uptake, and metabolism. This study sought to compare commercially administered NAD⁺ IV and NR IV in humans by evaluating infusion …

Barriers And Facilitators To Recruiting Older Adult Care Homeresidents Into Clinical Trials Of Medicines And Vaccines: A Scoping Review, Selvarani Subbarayan, Imogen A. Smith-Dodd, Gabriel Nicolson, Jennifer K. Burton, Janet T. Scott, Seshadri S. Vasan, Susan D. Shenkin, Roy L. Soiza, The Watch Consortium

Research outputs 2022 to 2026

Introduction: Excluding Care Home (CH) residents from clinical trials of medicines and vaccines has led to an evidence gap. Findings from younger adults may not be generalisable to CH residents with frailty and dementia. Therefore, it is essential to evaluate pharmacological treatments directly in CH residents to assess their safety and efficacy.

Methods: As part of the Widening Access to Trials in Care Homes project, we conducted a scoping review using Joanna Briggs Institute methodology to identify barriers and facilitators to recruiting CH residents into clinical trials of medicinal products. We searched EMBASE, MEDLINE, PsycINFO, CINAHL, and the Cochrane Library …

Cohort Profile: The Resilient Minds National Study Of Mental Health And Cognitive Resilience In Community Dwelling Adults Aged 18 To 93, Kaarin J. Anstey, Brooke Brady, Lidan Zheng, Jana Koch, Md Hamidul Huque, Michelle K. Lupton, Ralph Martins, Daniel Ashworth, Erin Goddard, Nikki Anne Wilson, Claudia M. Hillenbrand, Ralf B. Loeffler, Maria Markoulli, Arun V. Krishnan, Tanya Layton, Ranmalee Eramudugolla

Research outputs 2022 to 2026

Purpose: The Resilient Minds (ReMind) cohort was established to investigate cognitive and mental health resilience across the life course, addressing a gap in longitudinal evidence about resilience. The study collected data on traditional medical and lifestyle risk factors for chronic disease, genetics, and a range of mental health and cognitive outcomes. It also aimed to explore contemporary contextual influences on resilience, including internet use, social engagement, environmental exposures, and life course adversities such as perceived discrimination. Participants: The cohort included 1,640 adults aged 18–93 years, recruited through social media and community groups, to participate in a fully remote, two-year health …

Diet, Gut Microbiota, And Intestinal Permeability: Emerging Mechanisms In Hypertension Pathogenesis, Esha Vashisht, Helen Nguyen, Francine Z. Marques, Matthew Snelson

Research outputs 2022 to 2026

Hypertension is a leading contributor to global morbidity and mortality, arising from the interplay of genetic and environmental risk factors together with the dysregulation of multiple physiological systems involved in blood pressure control. Recent advances have established the gut as a central regulator, implicating the intestinal microbiota and barrier integrity in the modulation of blood pressure. Alterations in the gut microbial consortium, along with changes in levels of metabolites produced by the microbiota, have been associated with blood pressure regulation in animal models and human studies. Key microbial metabolites, including short-chain fatty acids, trimethylamine-N-oxide, and bile acids influence endothelial function, …

Efficacy And Safety Of Tai Chi For Chronic Musculoskeletal Pain: A Systematic Review And Meta-Analysis, Shun Chen, Weiting Liu, Qinwei Fu, Mingyu Huang, Weilan Lin, Yanting Ding, Ming Li

Research outputs 2022 to 2026

Objectives: Tai Chi, a form of complementary intervention emphasizing breathing and mind-body connection, is increasingly recognized for its potential in pain management. This review aims to synthesize current evidence on the efficacy and safety of Tai Chi for chronic musculoskeletal pain management in adults. Design: Systematic review and meta-analysis. Data sources: AMED, EMBASE, MEDLINE, WoS, CBM, CNKI, VIP, Wanfang Databases, CENTRAL, and WHO ICTRP were searched from database inception through May 2025, with an additional supplementary search conducted in January 2026. Eligibility criteria for selecting studies: We included randomized controlled trials (RCTs) comparing Tai Chi with other interventions for chronic …

Nurse Practitioner Students' Perceptions Of An Artificial Intelligence Differential Diagnosis Tool: A Pilot Study, Nilufeur Mckay, Peter Palamara, Adam Mccavery, Kaoru Nosaka, Wai Hang Kwok

Research outputs 2022 to 2026

Aim: The aim of this study is to assess nurse practitioner students' perceptions and engagement with Isabel's artificial intelligence (AI) based differential diagnosis tool to support their decision-making skills during their theoretical and clinical placement training. Design: This pilot study used a cross-sectional design. Methods: Twenty-six nurse practitioner students provided feedback on their use of an AI differential diagnosis tool in both academic and clinical contexts. This survey used the Post-Study System Usability Questionnaire to assess the engagement levels and usability of the AI tool. Additional questions were included to evaluate the usage patterns, adequacy in training and confidence in …

You Can Only Take Your Clients As Far As You’Ve Been Yourself: Examining The Intersections Between Psychedelic-Assisted Therapy, Lived-Living Experience, And Clinical Practice, Jordan J. Negrine, Stephen J. Bright, Monica J. Barratt, Matthew Pennell, Anthony Barnett, James Bennett-Levy, Timothy Piatkowski

Research outputs 2022 to 2026

Background: Following Australia’s landmark 2023 decision to approve psilocybin and MDMA for clinical use, psychedelic-assisted therapy (PAT) is beginning to emerge within regulated mental health settings. This study investigates psychologists’ views on the relevance of psychedelic therapists’ lived-living experience (LLE) with psychedelics. While discussion around LLE is growing, little is known about how psychologists perceive its role in clinical preparedness for PAT. Methods: Twenty Australian psychologists were recruited through purposive and snowball sampling. Semi-structured interviews explored perceptions of LLE in therapist training and practice. Data were coded and thematically analyzed to identify patterns in how experiential knowledge is valued within …

A Case For Qualitatively Driven Mixed Methods In Nursing Research: A Methodological Discussion, Jennifer Hamilton, Cooper, Irene Ngune, Amanda Cole, Richard Bostwick, Debbie Louise Massey

Research outputs 2022 to 2026

Mixed methodology continues to grow as a rigorous and respected research design. However, the value of qualitatively driven mixed methods research within nursing is underrepresented. Qualitatively driven mixed methods, where qualitative data dominate meaning-making, have the potential to capture critical experiential elements pertinent to nursing research while supporting empirical rigour. This methodology paper argues for the importance of qualitatively driven mixed methods approaches within nursing research to enable greater understanding of complex phenomenon. Through discussion and case example the role of qualitatively driven mixed methods, including within a sequential explanatory design, are presented. Nurses and midwives are well placed to …

Clinician-Led, Single-Blind, Randomised Controlled Trial Evaluating The Efficacy Of A High-Intensity Resistance And Impact Training Intervention For Improving Health-Related Quality Of Life In People With Multiple Sclerosis: Protocol For Strong-Ms, Lisa Grech, Beck, David Scott, Marc Sim, Jakub Mesinovic, Paul Jansons, Fernanda Rodrigues Fonseca, Julie Abimanyi-Ochom, Michelle Allan, Stefan Blum, Ernest Butler, William Carroll, Nigel Caswell, Peter Ebeling, Vanessa Gan, Alan Herschtal, Nevin John, Allan Kermode, Linh Le-Kavanagh, Shalika Bohingamu Mudiyanselage, Lynne Elizabeth Ohman, Mia Poposka, Alison Reece, Phoebe Sansom, Charlotte Scroggie, Christopher Todaro

Research outputs 2022 to 2026

Introduction: People with multiple sclerosis (MS) engage in less physical activity and experience higher rates of osteoporosis, falls and fractures than the general population, contributing to reduced health-related quality of life (HRQoL) and increased healthcare costs. High-intensity resistance and impact training (HiRIT) has beneficial effects on bone, muscle and physical function in other populations, but its effectiveness in people with MS is unclear. Methods and analysis: STRONG-MS is a codesigned, clinician-led, single-blind, randomised controlled trial evaluating the effect of a HiRIT programme, ONERO, on HRQoL for people with MS. Secondary aims include assessing changes in bone mineral density, body composition, …

How Does Pre-Registration Child Specific Education Prepare Newly Qualified Nurses’ To Care For Children, Young People, And Their Families? An Empty Narrative Review, Matthew Carey, Edge, Julie Blamires, Mandie Foster, Sarah Neill

Research outputs 2022 to 2026

This narrative review investigates the influence of child-specific content within pre-registration nursing programs on newly qualified nurses’ perceptions of preparedness to care for children, young people, and their families. Despite international recognition of the specialised competencies required for pediatric nursing, the proportion and quality of child-focused education across Higher Education Institutions is not clear. The Population, Exposure, Outcome framework provided a comprehensive search strategy applied across eight databases to identify relevant studies that met the inclusion and exclusion criteria. Of 663 records identified, 451 were screened and 25 full texts were assessed for eligibility by two reviewers. No studies met …

Patient-Reported Measures In Children And Adolescents With Chronic Kidney Disease And Their Validation: A Scoping Review, Angela Rejuso, Asif, Martin Howell, Chandana Guha, Siah Kim, Allison Jaure, Anastasia Hughes, Kristy Nicholl, Kylie Ann Mallit, Farzaneh Bouroumad, Jonathan Craig, Armando Teixeira-Pinto, Anna Francis, Nicholas Larkins, Anita Van Zwieten, Germaine Wong

Research outputs 2022 to 2026

Context: Children with chronic kidney disease (CKD) experience complex challenges affecting their physical, emotional and quality of life outcomes. Patient-reported outcome measures (PROMs) and experience measures (PREMs), collectively known as patient-reported measures (PRMs) are essential to capture these impacts, but their validation and suitability in pediatric CKD research remain underexplored. Objective: To identify and evaluate the psychometric properties of PRMs used in research in children with CKD. Data sources: Medline, Embase, CINAHL and PSYCinfo searched from inception to March 2025. Study selection: Studies that reported the results of at least one PRM completed by patients or proxies in children aged …

Exploring The Dairy Milk Matrix Beyond Isolated Nutrients—A Narrative Review, Therese A. O’Sullivan, Analise Nicholl

Research outputs 2022 to 2026

The concept of the food matrix considers individual components along with how they are structured, interact, and are modified during processing. There is increasing interest around the health effects of individual nutrients versus whole foods, creating a need to better understand how the matrix may influence health outcomes. This narrative review explores the dairy milk matrix and compares health effects with those of isolated components, with additional comparisons to plant-based milk alternatives. Comparative evidence suggests that while calcium from food and supplements generally has similar effects (depending on the form of the supplemental calcium), consumption of food-based sources such as …

Opportunities To Improve The Implementation Of Relational Health Interventions For Children And Families: A Secondary Analysis Of A Scoping Review, Natasha Pearce, Natasha Pearce, Donna Cross, Jacinta Francis, Jonathan H. Sae-Koew, Alexander M. Godley, Caitlin Attwell, Tracy Evans-Whipp, Tracy Evans-Whipp, Jacqueline Allen, Ross Homel, Craig A. Olsson, Stephen R. Zubrick, Lu Zhang, Sarah Whittle, Liz Spry, Tim Slade, Lisa Ritland, Naomi Priest, Felicity Painter, Craig Olsson

Research outputs 2022 to 2026

Despite the availability of universally delivered evidence-based relational health interventions, their wide-scale translation into practice is slow and unsustained. Measuring implementation outcomes within intervention trials is critical to understand their effectiveness and inform future scaling. This study aimed to determine the extent to which universally delivered relational health interventions measured and reported on implementation outcomes to inform their effectiveness. A secondary analysis of a scoping review examined the extent to which 123 RCT-evaluated relational health intervention studies referred to (1) implementation related theories or frameworks; (2) implementation data collection methods; (3) implementation measures, and; (4) each of twelve implementation outcomes …

Putting Lived Experience At The Centre: A Critical Review Of Multidisciplinary, Person-Centred Mental Health Care, Laura Grattidge, Darren Haywood, Nicolas H. Hart, Bridget Elizabeth Hamilton, Ellie Fossey, Melissa Petrakis, David J. Castle

Research outputs 2022 to 2026

Purpose: Person-centred care is widely endorsed in mental health policy yet remains inconsistently enacted in multidisciplinary practice, particularly where services default to diagnostic dominance, risk management, and service-led priorities. This critical review examines what is required to operationalise person-centred, rights-based care across disciplines and settings, positioning lived and living experience as core expertise rather than a supplementary perspective and considering implications for suicide prevention. Methods: A critical review of peer-reviewed and grey literature was undertaken, focusing on person-centred and multidisciplinary mental health care. Five commonly used approaches were compared: the Optimal Health Program, the Strengths Model, Open Dialogue, traditional case …

Reflecting On Themes From Telehealth Consultations Early In The Pandemic: An Opportunity To Learn From Multiprofessional Colleagues, Maggie Meeks, Laura R. Joyce, John Dean, Lorna Davies, Tika Ormond, Philippa Seaton, Dale Sheehan, Dean Sutherland, Melanie Welfare, Arindam Basu

Research outputs 2022 to 2026

Aims: This study is aimed at documenting the reflections of New Zealand healthcare professionals on the use of synchronous telehealth consultations. Methods: A qualitative narrative inquiry was conducted to explore the practice of telehealth in New Zealand. Purposive sampling was used to identify clinicians from multiple professions who used telehealth during the initial phase of the COVID-19 pandemic. Fifteen semistructured interviews were conducted between October 2020 and May 2021 with clinicians from primary and secondary care, including multiple professional backgrounds. Interview transcripts were analysed thematically. Results: Six themes were identified: (1) equitable access: There were concerns regarding equitable access to …

Scope And Adherence To The Consider Statement In Aboriginal And Torres Strait Islander Injury Prevention Research In Australia, Bep Uink, Michelle Barrett, Courtney Ryder, Aleina Humphreys, Graham Peter Barker

Research outputs 2022 to 2026

Introduction: Effective injury prevention for Aboriginal and Torres Strait Islander people hinges on the availability of culturally safe policies, resources and programmes, alongside best-practice research. Contemporary injury prevention research has increasingly centred Aboriginal and Torres Strait Islander knowledges, yet there is still room for improvement. Identification of relevant resources, policies and programmes, as well as the extent to which injury prevention research meets international criteria for ethical research with Aboriginal and Torres Strait Islander peoples will provide practitioners with critical insights into best-practice injury prevention initiatives. Method: We examined the breadth and scope of Aboriginal and Torres Strait Islander injury-related …

Methodological Approaches To Assessing Clinical Reasoning In Simulation-Based Education: An Integrative Review, Dhanya Anand Anil Kumar, Natasya Raja Azlan, Hugh Davies, Debbie L. Massey, Karen Strickland

Research outputs 2022 to 2026

Aims: Clinical reasoning is a critical skill for nurses, developing progressively through structured education and clinical experience. Simulation-based learning provides nursing students with a safe, immersive environment to develop this skill if it is thoughtfully designed and rigorously implemented. This review addresses a key gap in nursing education research by exploring methodological trends and key elements to consider for developing simulations to assess clinical reasoning in nursing students. Design: An integrative review using Whittemore and Knafl's framework. Data sources: Six databases (CINAHL, PubMed, ScienceDirect, MEDLINE, PsycInfo and Google Scholar) were searched for studies published from 2014 to September 2025. Review …

Determining The Mental Wellbeing Of Family Day Care Educators In Australia, Theresa Rayfield, Ruth Wallace, Karen Lombardi, Eben Afrifa-Yamoah, Brennen Mills

Research outputs 2022 to 2026

Family Day Care (FDC) is an essential service supporting Australian families requiring convenient, versatile, and quality education and care for their children. FDC educators’ mental wellbeing (MWB), often overlooked, is vital to ensure optimal education and care. This study aimed to gauge Australian FDC educators’ MWB and identify factors positively or negatively affecting MWB. A cross-sectional questionnaire measuring MWB, and eight predictor variables influencing MWB, was completed by Australian FDC educators. Structural equation modelling was utilised to ascertain relationships of the predictor variables on MWB. This study established MWB was lower than population norms (N = 292) and provided a …

Nurse Leaders’ Perceptions Of Organisational Policies, Guidelines, And Practices That Enact Children And Young People’S Involvement In Hospitals, Mandie Jane Foster, Julie Blamires, Virginia Jones, Smita Keshoor, Chris Moir, Annette Dickinson

Research outputs 2022 to 2026

There is limited literature on nurse leaders’ perceptions of organisational policies, guidelines, and practices that enact children and young people’s (CYP) involvement in hospitals. Nurse leaders within what were the four District Health Board providers of children’s tertiary health services in New Zealand (Auckland, Counties Manukau, Wellington, and Canterbury) were invited to respond to an online survey during November 2022 through to January 2023. The survey was developed by the researchers in accordance with the literature and included 11 open-ended questions. The open-ended questions were analysed iteratively through inductive thematic analysis. Eight out of 24 invited nurse leaders responded to …

Rock On Technology: Perspectives Of People With Neurological Conditions On Robot-Assisted Lower Limb And Gait Neurorehabilitation, Rachel G. Buckingham, Saran Chamberlain, Amanda Timler, Matthew K. Bagg, Nikki E. Bakhtazad, Taya Hamilton, Patricia Martinet, Bianca Haagman, Stuart I. Hodgetts, Barbara Singer, Ann Maree Vallence, Jodie Marquez, Eric Gaitho, Emma Gee, Jessica Nolan

Research outputs 2022 to 2026

Purpose: Explore perspectives of people living with neurological conditions in Western Australia (WA) on robot-assisted lower limb neurorehabilitation (RALLR), and implementation requirements. Materials and methods: This co-designed, qualitative descriptive study included people living with neurological conditions. In-person semi-structured focus groups (FGs) were facilitated by a person with lived experience of stroke. FGs were recorded, data were transcribed, and thematically analysed using a reflexive approach. Results: Five FGs included 24 participants (54.2% women, median age 50 years). Of these, thirteen participants had RALLR experience. Primary neurological conditions represented among participants comprised spinal cord injury (n = 11), stroke (n = 3), …

Colostrum As A Protective Factor Against Peanut Allergy: Evidence From A Birth Cohort, Maheshwar Bhasin, Matthew Cooper, Patricia Macchiaverni, Ravisha Srinivas Joys, Therese A. O'Sullivan, Jeffrey A. Keelan, Carina Venter, Debra J. Palmer, Adrian J. Lowe, Susan L. Prescott, Desiree Silva, Valerie Verhasselt

Research outputs 2022 to 2026

Background: Food allergy affects families' quality of life, can be lifelong and life-threatening, urging the identification of early modifiable risk factors. Formula feeding in the first days of life may increase the risk of cow's milk allergy, a risk often attributed to cow's milk allergens exposure. Early formula feeding also reduces the colostrum intake, the first 3 days' milk, which is rich in bioactive compounds critical for immune and gut health. This study investigates whether partial colostrum feeding increases the risk of food allergy beyond cow's milk. Methods: Data from 666 mother-infant pairs in the Australian ORIGINS cohort categorised neonates …

Attitudes And Expectations Towards Acupuncture For Primary Dysmenorrhoea: Findings From A Cross-Sectional Survey In Australia, Weiting Liu, Amanda Towell-Barnard, Khui Hung Lee, Timothy Leen Kang

Research outputs 2022 to 2026

Objective: To describe attitudes towards acupuncture and expectations regarding potential treatment outcomes among women with self-reported primary dysmenorrhoea (PD) residing in Australia. Methods: A cross-sectional, descriptive online survey was conducted to assess attitudes and treatment expectancy using an adapted version of previously published complementary and alternative medicine (CAM) attitude scale and a validated acupuncture expectancy scale (AES). Data were analysed descriptively, with exploratory analysis conducted to support the interpretation of response patterns. Ethical approval was obtained from the Edith Cowan University Human Research Ethics Committee (2023-04471-LIU) and participants provided electronic informed consent. Results: A total of 247 responses were received. …

Barriers And Facilitators To Providing Women Postpartum Care By Health Care Providers In The First 12 Months After Childbirth: A Systematic Qualitative Meta-Aggregation Review, Maryam Rouhi, Silvana Bettiol, Sarah Prior, Narges Rouhi, Theodora Dedo Azu, Christine Stirling, Lynne Staff, Linda Jones, Antigoni Leftherioti, Patricia Nicholson

Research outputs 2022 to 2026

Introduction: Postpartum care is crucial for maternal and infant health but remains inconsistently administered. This systematic qualitative review aimed to synthesize health care providers’ perspectives by exploring the barriers and facilitators experienced by health care providers in administering optimal maternal care during the first 12 months after childbirth. Methods: A systematic qualitative meta-aggregation review was conducted using the Joanna Briggs Institute methodology. Peer-reviewed qualitative studies from January 2010 to April 2024 were retrieved from MEDLINE, CINAHL, Embase, and Web of Science. Findings were mapped onto the Behavioral Model of Health Services Use. Results: Twenty-three studies were included. Four key themes …

Cannabinoid Impacts On Ethnic Modulation Of Atrial Septal Defect Prevalence Usa, Albert Stuart Reece, Gary Kenneth Hulse

Research outputs 2022 to 2026

Objective: To conduct a detailed epidemiological exploration of the relative contributions of cannabis and ethnicity to US atrial septal defect (ASD) rates (ASDR). Study design: State-based ASDR data from the US National Births Defects Prevention Network, substance use, income and ethnicity data analyzed in RStudio. Results: Ethnic effects were significant with relative risks amongst African Americans and American Indians and Alaskan Natives of 2·40 (95%C.I. 2·27, 2·54) and 2·31 (2·19, 21·43), Cohen’s D of 1·44 and 1·46 and P values of 2·94 × 10⁻¹⁶⁸ and 3·01 × 10⁻¹⁷² compared to others, respectively. In general, additive models inclusion of …

Gwas Meta-Analysis Provides New Insights Into Uveal Melanoma Risk, Matthew D’Mellow, Huanwei Wang, Jane M. Palmer, Kari Hemminki, Colleen M. Cebulla, Aaron B. Beasley, Nikolaos E. Bechrakis, Antonia L. Pritchard, Karin W. Wadt, Peter A. Johansson, Lenha Mobuchon, Samantha Barlow, Kelly Brooks, Timothy Beckman, Catherine M. Olsen, Sunil K. Warrier, Lindsey Byrne, Helen Kalirai, Colette Mustard, Nathan Ingold, Asta Försti, Timothy Isaacs

Research outputs 2022 to 2026

Objective: The aim of this research is to identify germline genetic variants that predispose to uveal melanoma (UM) using data from nine studies involving 5839 individuals with UM (3853 novel) and 349,863 healthy controls. Methods: Five novel UM genome-wide association studies (GWAS) were performed and included for meta-analysis with four previously published UM GWAS. A fixed-effects inverse-variance weighted (IVW) meta-analysis was performed by combining data from these nine UM case-control cohorts. A follow-up transcriptome-wide association study (TWAS) was conducted to identify candidate target genes at UM risk loci. Genetic correlations with melanoma-related phenotypes were measured to elucidate UM’s genetic architecture. …