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Articles by Anna Gui
Genome-wide association studies of infant and toddler temperament in European and multi-ancestry populations
Abstract Early temperament, such as socio-emotional development and activity level, varies widely, yet its underlying biological associations are not understood. We identified genetic variation associated with infant and toddler temperament using genome-wide association meta-analyses. We studied parent-rated emotionality, activity, shyness and sociability (n = 43,963–72,663) in the second and third postnatal years and a cross-age average.
Polygenic and developmental profiles of autism differ by age at diagnosis - Nature Original
Abstract Although autism has historically been conceptualized as a condition that emerges in early childhood1,2, many autistic people are diagnosed later in life3,4,5. It is unknown whether earlier- and later-diagnosed autism have different developmental trajectories and genetic profiles. Using longitudinal data from four independent birth cohorts, we demonstrate that two different socioemotional and behavioural trajectories are associated with age at diagnosis.
Genome-wide association meta-analysis of age at onset of walking in over 70,000 infants of European ancestry - Nature Human Behaviour
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Abstract Age at onset of walking is an important early childhood milestone which is used clinically and in public health screening. In this genome-wide association study meta-analysis of age at onset of walking (N = 70,560 European-ancestry infants), we identified 11 independent genome-wide significant loci. SNP-based heritability was 24.13% (95% confidence intervals = 21.86–26.40) with ~11,900 variants accounting for about 90% of it, suggesting high polygenicity.
By Anna Gui, Anja Hollowell, Emilie M. Wigdor, Morgan J. Morgan, Laurie J. Hannigan, Elizabeth C Corfield, Veronika V. Odintsova, Jouke-Jan Hottenga, Andrew Wong, René Pool, Harriet Cullen, Sian Wilson, Varun Warrier, Espen M. Eilertsen, Ole A. Andreassen, Christel M. Middeldorp, Meike Bartels, Dorret I. Boomsma, Catharina A Hartman, Elise B. Robinson, Tomoki Arichi, Anthony Edwards, Mark Johnson, Frank Dudbridge, Stephan Sanders, Alexandra Havdahl
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Nature
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Epigenome-wide analysis reveals novel DNA methylation signatures significantly associated with the infant pupillary light reflex, a candidate intermediate phenotype for autism.
Abstract Autism is a highly heterogeneous neurodevelopmental condition, currently diagnosed based on behavioural characteristics. Candidate early intermediate phenotypes, such as the Pupillary Light Reflex (PLR), a reflexive constriction of the pupil in response to increased optical luminance, may provide insights into etiological factors and potential biomarkers, such as DNA methylation (DNAm), involved in the emergence of autism.
Combining Real‐Time Neuroimaging With Machine Learning to Study Attention to Familiar Faces During Infancy: A Proof of Principle Study
1 Introduction Attention allocation to social stimuli (social attention) in the first months of age is crucial for the development of the social brain (Johnson et al. 2009, Johnson 2011; Klein, Shepherd, and Platt 2009). From birth, infants are drawn to the faces of their caregivers (Sugden and Moulson 2019). Newborns can distinguish between the face of their mother and a stranger, provided they have been able to hear the mother's voice (Burnham 1993).
The potential and translational application of infant genetic research - Nature Genetics
Abstract In the current genomic revolution, the infancy life stage is the most neglected. Although clinical genetics recognizes the value of early identification in infancy of rare genetic causes of disorders and delay, common genetic variation is almost completely ignored in research on infant behavioral and neurodevelopmental traits.
Genome-wide association meta-analysis of age at onset of walking
Ole A. Andreassen is a consultant to cortechs.ai, speakers honoraria from Janssen, Lundbeck, Sunovion. Stephan J. Sanders receives research funding from BioMarin Pharmaceutical. Simons Foundation. Economic and Social Research Council. South-Eastern Norway Regional Health Authority. Research Council of Norway (RCN). UK Medical Research Council. Medical Research Council Centre for Neurodevelopmental Disorders, Kings College London. European Research Council. National Institute for Health Research (NIHR).
Frontiers | Smartphone-based behaviour analysis for challenging behaviour in intellectual and developmental disabilities and autism spectrum disorder - Study protocol for the ProVIA trial
Julia Geissler1*, Hanna Buchholz1, Rinat Meerson1, Klaus Kammerer2, Manuel Göster2, Johannes Schobel3, Christoph Ratz4,5, Regina Taurines1, Rüdiger Pryss2 and Marcel Romanos1,5 1Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, Center of Mental Health, University Hospital Würzburg, Würzburg, Germany 2Institute for Clinical Epidemiology and Biometry (IKEB), University of Würzburg, Würzburg, Germany 3DigiHealth Institute, Neu-Ulm University of Applied Sciences,...
Connecting autism-linked genetic variation to infant social behavior
Anna Gui Postdoctoral researcher, Birkbeck, University of London Emily Jones Professor, Birkbeck, University of London Advances in genetics have revolutionized our understanding of autism’s origins. We know that hundreds of genes with diverse functions can contribute to the condition, and many of these genes act primarily on the formation of the brain during prenatal and early postnatal development.
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