Author
Sarah Elizabeth Medland
QIMR Berghofer Medical Research InstituteORCID 0000-0003-1382-380XUnclaimed ORCID profile · follow to get notified of new preprints
Additional preprints under this name without ORCID
Biology Disciplines
Click to filter author papersSignature Assays, Organisms & Methods
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2015-2026 · peak 11/yrCo-Author Collaboration Network
10 top collaborators · 39 mutual co-author linksMutual co-authors in cluster
60 papers
Recent·Most cited
- Genetic & Genomic MedicinemedRxivPreprintDOI 10.64898/2026.09.30.26364416
- GeneticsbioRxivPreprint✦ In-depth digest
Analysis of Rare Coding Variation Identifies New Genetic Contributors to Schizophrenia
Julia Sealock, Connor Dowd, Calwing Liao…·Akena Dickens
Ultra-rare damaging coding variants in 87,959 schizophrenia cases and 150,587 controls implicate 40 genes (16 exome-wide, 24 at 5% FDR), half overlapping autism, developmental delay or bipolar genes.
1 citation - Genetic & Genomic MedicineEuropean NeuropsychopharmacologyPeer-reviewed
Genetic and Environmental Predictors of Seasonality and Seasonal Affective Disorder in Individuals with Depression
Floris Huider, Jacob J. Crouse, Sarah Elizabeth Medland…·Brittany L. Mitchell
This study identifies genetic and environmental factors associated with seasonal affective disorder and seasonality using a large cohort of individuals with depression.
DOI 10.1016/j.euroneuro.2026.112982 - Genetic & Genomic MedicinemedRxivPreprint
Quantifying the contribution of genetic variation to healthcare expenditure across diverse healthcare systems
Sebastian May-Wilson, Jiwoo Lee, Tomoko Nakanishi…·Andrea Ganna
This study identifies genetic variants associated with healthcare costs across multiple systems, finding polygenic influences and large effects from specific loss-of-function variants.
- Genetic & Genomic MedicinemedRxivPreprint
Atypical energy-related symptoms define biologically distinct subtypes of major depressive disorder
Arvid Harder, Rujia Wang, Jacob Bergstedt…·Yi Lu
The paper identifies biologically distinct subtypes of MDD based on energy-related symptoms and finds genetic and metabolic differences between them.
DOI 10.64898/2026.07.02.26357101 - Genetic & Genomic MedicineMolecular PsychiatryPeer-reviewed
Genome-wide genetic overlap between fear-based disorders and generalised anxiety disorder
Abigail ter Kuile, Brittany L. Mitchell, Sang Hyuck Lee…·Thalia Catherine Eley
This study identifies genetic differences between fear-based anxiety disorders and generalised anxiety disorder using GWAS, finding partial genetic distinction and shared liability to internalising psychopathology.
- Genetic & Genomic MedicinemedRxivPreprint
Multi-ancestry genome-wide association study and meta-analysis of stimulant use disorder reveals biology and relationships to other psychiatric disorders
S L Beck, Joseph D. Deak, Daniel F. Levey…·Joel E. Gelernter
This paper conducts a multi-ancestry GWAS of stimulant use disorder, identifies 19 genome-wide significant loci, and finds genetic correlations with other psychiatric and substance use disorders.
DOI 10.64898/2026.06.05.26354997 - Genetic & Genomic MedicinemedRxivPreprint
Evaluating the Clinical Impact of CYP2C19 and CYP2D6 on Amitriptyline Outcomes in a Real-World Chronic Pain Cohort
Bade Uckac, Santiago Díaz‐Torres, Zuriel Ceja…·Giovanni Esteves Ferreira
This study examines the association between CYP2C19 and CYP2D6 metabolizer phenotypes and amitriptyline effectiveness and tolerability in a chronic pain cohort, finding no strong associations after correction for multiple testing.
DOI 10.64898/2026.05.28.26354228 - Genetic & Genomic MedicinemedRxivPreprint
Characterising the Stability of Polygenic Risk Scores: implications for risk stratification
Andreza Ferreira, Penelope A. Lind, Hayley Moody…·Sarah Elizabeth Medland
This study examines how individual polygenic risk scores (PRS) rankings change across GWAS releases and their implications for risk stratification.
DOI 10.64898/2026.05.17.26353273 - Genetic & Genomic MedicineNature CommunicationsPeer-reviewed
A large-scale genome-wide association meta-analysis for nevus count provides direct insights into the genetics of melanoma
G J M Shanika R Jayasinghe, Gu Zhu, Nirmala Pandeya…·Matthew H. Law
This study conducts a large-scale GWAS meta-analysis of nevus count, identifying 29 new loci and highlighting immune-related pathways relevant to melanoma risk.
3 citations - Genetic & Genomic MedicineNature GeneticsPeer-reviewed
Genome-wide association study of major anxiety disorders in 122,341 European-ancestry cases identifies 58 loci and highlights GABAergic signaling
Nora I. Strom, Brad Verhulst, Silviu‐Alin Bacanu…·Ted Reichborn‐Kjennerud
This paper identifies 58 genome-wide significant loci for major anxiety disorders using a large meta-analysis and highlights GABAergic signaling as a potential mechanism.
31 citationstop 1% - NeuroscienceNature CommunicationsPeer-reviewed
The Genetic Architecture of the Human Corpus Callosum and its Subregions
Ravi R. Bhatt, Shruti P. Gadewar, Ankush Shetty…·Neda Jahanshad
The paper uses GWAS to identify genetic variants associated with corpus callosum morphometry and links them to cortical structure and neuropsychiatric disorders.
- Genetic & Genomic MedicinemedRxivPreprint
Psychiatric polygenic profiles characterize difficult-to-treat depression versus antidepressant responders in the AGDS:Cell-o cohort
Brittany L. Mitchell, Deborah Gilroy, Leanne M. Wallace…·Naomi R. Wray
The paper identifies polygenic score differences between antidepressant responders and difficult-to-treat depression groups in the AGDS:Cell-o cohort, suggesting biological distinctions and potential for early stratification.
2 citations - Genetic & Genomic MedicinemedRxivPreprint
Genome-wide analyses of quantitative generalised anxiety symptom severity
Megan Skelton, Brittany L. Mitchell, Elham Assary…·Thalia Catherine Eley
This study conducts a genome-wide association analysis of generalised anxiety symptom severity, identifying 80 significant variants and showing genetic correlations with other mental and physical health traits.
2 citations - Genetic & Genomic MedicinemedRxivPreprint
Genome-wide meta-analysis of panic attacks and disorder identifies genetic risk factors and implicates multiple body systems in panic and other psychiatric disorders
Brittany L. Mitchell, Megan Skelton, Rujia Wang…·Gerome D. Breen
This study identifies genetic risk factors for panic attacks and disorder through genome-wide meta-analysis and links them to multiple body systems and neuronal functions.
- NeuroscienceCerebral CortexPeer-reviewed
Genetic and environmental contributions to ReHo and fALFF in early adolescence vary across brain regions
Lachlan T. Strike, Katie Louise McMahon, Sarah Elizabeth Medland, Greig Ian de Zubicaray
The paper examines genetic and environmental influences on local brain function measures (ReHo and fALFF) in adolescents, finding region-specific effects and temporal stability across two time points.
- GenomicsbioRxivPreprint
Robust inference and widespread genetic correlates from a large-scale genetic association study of human personality
Ted Schwaba, Margaret L. Clapp Sullivan, Wonuola A. Akingbuwa…·Aino I. L. Saarinen
This study identifies 1,257 genetic variants associated with human personality traits using large-scale GWAS and finds widespread genetic correlations with behaviors and life outcomes.
17 citations - NeurosciencebioRxivPreprint
Lifestyle, Early-life, and Genetic Health Risk Factors Underlying the Brain Age Gap: A Mega-Analysis Across 3,934 Individuals from the ENIGMA MDD Consortium
Laura K. M. Han, Yara Jo Toenders, Xueyi Shen…·Lianne Schmaal
This study identifies lifestyle, early-life, and genetic factors associated with brain age gaps in individuals with major depressive disorder compared to controls.
- NeuroscienceScientific DataPeer-reviewed
Lifespan reference curves for harmonizing multi-site regional brain white matter metrics from diffusion MRI
Alyssa H. Zhu, Talia M. Nir, Shayan Javid…·Neda Jahanshad
The paper creates lifespan reference curves for white matter microstructure using diffusion MRI data from multiple datasets and validates them with ApoE4 risk factor analysis.
- NeurosciencebioRxivPreprint
Dissecting heterogeneity in cortical thickness abnormalities in major depressive disorder: a large-scale ENIGMA MDD normative modelling study
Johanna Bayer, Laura S. van Velzen, Elena Pozzi…·Lianne Schmaal
This study uses normative modeling to analyze cortical thickness deviations in MDD patients and healthy controls, finding large overlaps and significant heterogeneity in extreme deviations across individuals.
- Genetic & Genomic MedicinePsychological MedicinePeer-reviewed
Multi-ancestral genome-wide association study of clinically defined nicotine dependence reveals strong genetic correlations with other substance use disorders and health-related traits.
Emma C. Johnson, Dongbing Lai, Jared V. Balbona…·Arpana Agrawal A
This study performs a multi-ancestral GWAS of DSM-defined nicotine dependence, finding genetic correlations with other substance use disorders and health traits, and identifying a strong general addiction liability factor.
5 citations - GenomicsTranslational PsychiatryPeer-reviewed
Genomic Structural Equation Modeling Reveals Latent Phenotypes in the Human Cortex with Distinct Genetic Architecture
Rajendra A. Morey, Yuanchao Zheng, Henry Bayly…·Mark W. Logue
The paper uses genomic structural equation modeling to identify latent genetic factors underlying cortical surface area and thickness, finding genetic correlations with psychiatric disorders.
14 citations - Genetic & Genomic MedicinemedRxivPreprint✦ In-depth digest
Family-GWAS reveals effects of environment and mating on genetic associations
Tammy Tan, Hariharan Jayashankar, Junming Guan…·Alexander I. Young
Family-based GWAS meta-analysis of 34 phenotypes shows standard GWAS effects carry sizeable confounding uncorrelated with direct genetic effects, while assortative mating likely inflates SNP heritability and genetic correlations.
47 citations - GenomicsbioRxivPreprint
A blended genome and exome sequencing method captures genetic variation in an unbiased, high-quality, and cost-effective manner
Toni A. Boltz, Benjamin B. Chu, Calwing Liao…·Alicia R. Martin
The paper introduces BGE, a sequencing method that combines low-pass whole genome and deep whole exome data, showing high accuracy and cost-effectiveness for genetic variant discovery.
12 citations - Genetic & Genomic MedicinemedRxivPreprint
Genome-wide meta-analyses of non-response to antidepressants identify novel loci and potential drugs
Elise M. Koch, Tuuli Jürgenson, Guðmundur Einarsson…·Kevin Sean O’Connell
This study identifies two novel genomic loci associated with antidepressant non-response and suggests potential drugs for further validation.
7 citations - Genetic & Genomic MedicineNature GeneticsPeer-reviewed
Understanding the genetic complexity of puberty timing across the allele frequency spectrum
Katherine A. Kentistou, Lena R Kaisinger, Stasa Stankovic…·Hakon H. Hakonarson
This study identifies genetic signals associated with age at menarche, highlights genes involved in pubertal development, and links reproductive timing to later life disease risk.
59 citationstop 1% - Genetic & Genomic MedicinemedRxivPreprint
Genetic structure of major depression symptoms across clinical and community cohorts
Mark J. Adams, Jackson G. Thorp, Bradley S. Jermy…·Eske M. Derks
This study identifies genetic subtypes of major depressive symptoms by analyzing data from clinical and community cohorts, finding distinct factors for appetite/weight symptoms and missing data patterns.
4 citations - GeneticsNature Human BehaviourPeer-reviewed
Genome-wide analysis identifies genetic effects on reproductive success and ongoing natural selection at the FADS locus.
Iain Mathieson, Felix R. Day, Nicola Barban…·Vallari Shukla
This study identifies 43 genomic loci associated with reproductive success in 785,604 individuals, showing ongoing natural selection at the FADS locus.
63 citationstop 1% - NeuroscienceMolecular PsychiatryPeer-reviewed
Subtly altered topological asymmetry of brain structural covariance networks in autism spectrum disorder across 43 datasets from the ENIGMA consortium
Zhiqiang Sha, Daan van Rooij, Evdokia A. Anagnostou…·Clyde Francks
The paper examines hemispheric asymmetry in structural covariance networks in ASD across 43 datasets, finding altered topological features in specific brain regions.
- Genetic & Genomic MedicinemedRxivPreprint
Phenotypic and genetic factors associated with differential consent to record linkage for prescription history in the Australian Genetics of Depression Study
Lina Gómez, Santiago Díaz‐Torres, Lucía Colodro‐Conde…·Adrián I. Campos
The paper examines factors influencing consent to prescription record linkage in a depression genetics study, finding phenotypic and genetic associations with participation rates.
DOI 10.1101/2021.10.26.21265507