Author: Rachel M Freathy

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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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Mosaic Turner syndrome shows reduced phenotypic penetrance in an adult population study compared to clinically ascertained cases

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

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Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors

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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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HUMAN LONGEVITY IS INFLUENCED BY MANY GENETIC VARIANTS: EVIDENCE FROM 75,000 UK BIOBANK PARTICIPANTS

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Genome-wide association study of offspring birth weight in 86,577 women highlights maternal genetic effects that are independent of fetal genetics

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A common allele in FGF21 associated with preference for sugar consumption lowers body fat in the lower body and increases blood pressure

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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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Genetic architecture of early childhood growth phenotypes gives insights into their link with later obesity

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  • In genomics: 3,733
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Quantifying the extent to which index event biases influence large genetic association studies

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Variants in the fetal genome near pro-inflammatory cytokine genes on 2q13 are associated with gestational duration

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Haplotype genetic score analysis in 10,734 mother/infant pairs reveals complex maternal and fetal genetic effects underlying the associations between maternal phenotypes, birth outcomes and adult phenotypes

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Do maternal intrauterine environmental influences that lower offspring birthweight causally increase offspring cardiometabolic risk factors in later life? A Mendelian randomization study of 45,849 genotyped parent offspring pairs in the HUNT study

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All thresholds of maternal hyperglycaemia from the WHO 2013 criteria for gestational diabetes identify women with a higher genetic risk for type 2 diabetes

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Trans-ancestry genome-wide association study of gestational diabetes mellitus highlights genetic links with type 2 diabetes

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Higher maternal adiposity reduces offspring birth weight if associated with a metabolically favourable profile

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  • Site-wide: 126,656
  • In genetic and genomic medicine: 756
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Associations of genetic scores for birth weight with newborn size and later Anthropometric traits and cardiometabolic risk markers in South Asians

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Common maternal and fetal genetic variants show expected polygenic effects on the probability of being born small- or large-for-gestational-age (SGA or LGA), except in the smallest 3% of babies

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Genetic effects on the timing of parturition and links to fetal birth weight

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Fetal alleles predisposing to metabolically favourable adiposity are associated with higher birth weight

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Common genetic variants with fetal effects on birth weight are enriched for proximity to genes implicated in rare developmental disorders

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Causal effects of maternal circulating amino acids on offspring birthweight: a Mendelian randomisation study

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Genetic scores explain variation in birthweight that is not captured by easily measured clinical and anthropometric variables

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  • In genetic and genomic medicine: 1,255
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Investigating a possible causal relationship between maternal serum urate concentrations and offspring birthweight: A Mendelian randomization study

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