Author: Sian Ellard

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Preprints

Genome-wide association analyses of chronotype in 697,828 individuals provides new insights into circadian rhythms in humans and links to disease

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Investigating causal relationships between sleep traits and risk of breast cancer: a Mendelian randomization study

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  • In epidemiology: 533
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Biological and clinical insights from genetics of insomnia symptoms

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Genome-wide association analyses in >119,000 individuals identifies thirteen morningness and two sleep duration loci

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GWAS in 446,118 European adults identifies 78 genetic loci for self-reported habitual sleep duration supported by accelerometer-derived estimates

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Genetic studies of accelerometer-based sleep measures in 85,670 individuals yield new insights into human sleep behaviour

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SavvyCNV: genome-wide CNV calling from off-target reads

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  • In bioinformatics: 2,318
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Heterozygous RFX6 protein truncating variants cause Maturity-Onset Diabetes of the Young (MODY) with reduced penetrance

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Quantifying the extent to which index event biases influence large genetic association studies

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Genetic evidence that lower circulating FSH levels lengthen menstrual cycle, increase age at menopause, and impact reproductive health: a UK Biobank study

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Evidence that low socioeconomic position accentuates genetic susceptibility to obesity

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Whole genome sequencing for diagnosis of neurological repeat expansion disorders

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Unsupervised clustering of missense variants in the HNF1A gene using multidimensional functional data aids clinical interpretation

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  • In endocrinology: 22
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Differences in Genetic Liability for Insomnia and Hypersomnia in Bipolar Disorder Subtypes

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Functional interpretation of ATAD3A variants in neuro-mitochondrial phenotypes

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