Author
Penelope A. Lind
QIMR Berghofer Medical Research InstituteORCID 0000-0002-3887-2598Unclaimed 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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2018-2026 · peak 8/yrCo-Author Collaboration Network
10 top collaborators · 44 mutual co-author linksMutual co-authors in cluster
31 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 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.
1 citation - GenomicsClinical EpigeneticsPeer-reviewed
Epigenome-wide association study meta-analysis of wellbeing
Meike Bartels, Margot P. van de Weijer, Natalia Azcona-Granada…·Jenny van Dongen
This study conducts an epigenome-wide association study (EWAS) meta-analysis of wellbeing using DNA methylation data, finding no significant methylation sites but suggesting the need for larger studies.
2 citations - 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 MedicinemedRxivPreprint
CONSILIENCE-GWAS: A Web Resource for Parsed Heritability & Polygenic Score Analysis of Human GWAS Using Heterogeneous Functional Genomics Data
Rameez A. Syed, Chelsie E. Benca‐Bachman, Spencer B. Huggett…·Rohan H. C. Palmer
CONSILIENCE-GWAS integrates functional genomics data with human GWAS to analyze heritability and polygenic scores across species.
- 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
Genomic dimensions deconstruct the clinical heterogeneity of bipolar disorder
Tracey van der Veen, Markos Tesfaye, Jessica Mei Kay Yang…·Melvin G. McInnis
This study identifies genetic risk loci and factors underlying clinical subtypes of bipolar disorder using GWAS and meta-analysis.
1 citation - 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.
1 citation - 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 - 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 - 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% - 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 - GeneticsbioRxivPreprint✦ In-depth digest
Within-sibship GWAS improve estimates of direct genetic effects
Laurence J Howe, Michel Guillaume Nivard, Tim Morris…·Neil M Davies
In 159,701 siblings from 17 cohorts, population GWAS overstate direct effects on height, education, smoking, cognition, depressive symptoms and age at first birth; clinical traits mostly agree across models.
68 citations - NeuroscienceCerebral CortexPeer-reviewed
The Evolutionary History of Common Genetic Variants Influencing Human Cortical Surface Area
Amanda K. Tilot, Ekaterina A. Khramtsova, Dan Liang…·Jason L. Stein
This study identifies genetic variants influencing human cortical surface area by integrating evolutionary annotations with neuroimaging genetic data, revealing recent polygenic selection on brain regions involved in language and vision.
34 citations - GeneticsNature CommunicationsPeer-reviewed
A phenome-wide association and Mendelian Randomisation study of polygenic risk for depression in UK Biobank
Xueyi Shen, David M. Howard, Mark J. Adams…·Michael John Owen
This study identifies traits associated with polygenic risk for depression using UK Biobank data and finds causal links between depression risk and brain structure, as well as environmental interactions.
111 citationstop 1% - GeneticsSciencePeer-reviewed
The genetic architecture of the human cerebral cortex
Katrina L. Grasby, Neda Jahanshad, Jodie N. Painter…·Yuri Milaneschi
The paper identifies genetic loci associated with human cortical structure and finds genetic correlations with neuropsychiatric disorders.
875 citationstop 1% - GeneticsBiological PsychiatryPeer-reviewed
Genetic variation in the Major Histocompatibility Complex and association with depression
Kylie P. Glanville, Jonathan R. I. Coleman, Ken Benjamin Hanscombe…·Thomas Folkmann Hansen
This study investigates whether genetic variation in the Major Histocompatibility Complex (MHC) is associated with depression risk, finding no significant associations at a conservative threshold.
39 citations - GeneticsbioRxivPreprint
Genetic Determinants of Cortical Structure (Thickness, Surface Area and Volumes) among Disease Free Adults in the CHARGE Consortium
Edith Hofer, Gennady V. Roshchupkin, Hieab H.H. Adams…·Marcio Almeida
The paper identifies 161 genome-wide significant genetic associations for cortical structure traits across 34 brain regions, highlighting key biological pathways and gene functions.
22 citations - GeneticsNature CommunicationsPeer-reviewed
Variably methylated regions in the newborn epigenome: environmental, genetic and combined influences
Darina Czamara, Gökçen Eraslan, Christian Magnus Page…·Robert M. Maier
The paper examines how genetic and environmental factors influence DNA methylation at variably methylated regions in neonatal blood, finding that combined effects best explain methylation variability.
143 citationstop 2% - NeurosciencebioRxivPreprint
Planar cell polarity pathway and development of the human visual cortex
Jean Shin, Shaojie Ma, Edith Hofer…·Shareefa Dalvie
The paper identifies genetic associations with cortical surface area using PCA and GWAS, linking DAAM1 to visual cortex development through mitochondrial pathways and thalamocortical input.
2 citations - GeneticsPsychological MedicinePeer-reviewed
Evidence of causal effect of major depression on alcohol dependence: Findings from the Psychiatric Genomics Consortium
Renato A Polimanti, Roseann Elizabeth Peterson, Jue‐Sheng Ong…·Eske M. Derks
This study uses Mendelian randomization to find a causal link between major depression and alcohol dependence using large genetic datasets.
107 citationstop 2% - GeneticsbioRxivPreprint
The genetic architecture of sporadic and recurrent miscarriage
Triin Laisk, Ana Gonçalves Soares, Teresa Cruz Ferreira…·Cecilia M. Lindgren
This study identifies genetic variants associated with sporadic and recurrent miscarriage through large-scale association analyses and Mendelian randomization.
3 citations - GeneticsbioRxivPreprint
Genome-wide association and functional studies identify 46 novel loci for alcohol consumption and suggest common genetic mechanisms with neuropsychiatric disorders
Εvangelos Εvangelou, He Gao, Congying Chu…·Paul Elliott
This study identifies 46 novel genetic loci associated with alcohol consumption and suggests shared genetic mechanisms with neuropsychiatric disorders using GWAS and functional analyses.
2 citations - GeneticsCommunications BiologyPeer-reviewed
Applying polygenic risk scoring for psychiatric disorders to a large family with Bipolar Disorder and Major Depressive Disorder
Simone de Jong, Mateus Jose Abdalla Diniz, Andiara Saloma…·Jodie N. Painter
The paper applies polygenic risk scoring to a large family with bipolar and depressive disorders to study genetic risk patterns and anticipation.
23 citations - GenomicsbioRxivPreprint
Genome-wide association analysis identifies 27 novel loci associated with uterine leiomyomata revealing common genetic origins with endometriosis
C. Scott Gallagher, Netta Mäkinen, Holly Ruth Harris…·Cynthia Casson Morton
9 citations - GeneticsNature GeneticsPeer-reviewed✦ In-depth digest
Genome-wide association analyses identify 44 risk variants and refine the genetic architecture of major depression
eQTLGen, Naomi R. Wray, 23andMe…·Niamh Mullins
Genome-wide association meta-analysis of 130,664 major depression cases and 330,470 controls identifies 44 independent risk loci enriched in cortical neurons, conserved mammalian regions, splicing networks, and antidepressant targets.
2,997 citationstop 1%