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Author: Michael N Weedon

Rankings

  • All-time downloads: 19,711 (rank: 10,555 (tie) )
  • Categories:
    • bioinformatics: 1,271 (rank: 12,767 (tie) )
    • endocrinology: 769 (rank: 199 (tie) )
    • epidemiology: 1,979 (rank: 6,530 (tie) )
    • genetic and genomic medicine: 876 (rank: 3,994 )
    • genetics: 10,050 (rank: 1,768 (tie) )
    • genomics: 4,766 (rank: 5,411 (tie) )

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Preprints

Evaluation of evidence for pathogenicity demonstrates that BLK, KLF11 and PAX4 should not be included in diagnostic testing for MODY

endocrinology more details view paper

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

genetics more details view paper
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Biological and clinical insights from genetics of insomnia symptoms

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

epidemiology more details view paper
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Genome-wide association analyses in >119,000 individuals identifies thirteen morningness and two sleep duration loci

genetics more details view paper
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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

genetics more details view paper
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Genetic studies of accelerometer-based sleep measures in 85,670 individuals yield new insights into human sleep behaviour

genetics more details view paper
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SavvyCNV: genome-wide CNV calling from off-target reads

bioinformatics more details view paper
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Whole genome sequencing for diagnosis of neurological repeat expansion disorders

genomics more details view paper
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A meta-analysis of epigenome-wide association studies in Alzheimer's disease highlights novel differentially methylated loci across cortex

genomics more details view paper
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Heterozygous RFX6 protein truncating variants cause Maturity-Onset Diabetes of the Young (MODY) with reduced penetrance

genetics more details view paper
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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

genetics more details view paper
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Estimating population level disease prevalence using genetic risk scores

genetic and genomic medicine more details view paper
  • Downloaded 726 times
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Quantifying the extent to which index event biases influence large genetic association studies

genetics more details view paper
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Evidence that low socioeconomic position accentuates genetic susceptibility to obesity

genetics more details view paper
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Unsupervised clustering of missense variants in the HNF1A gene using multidimensional functional data aids clinical interpretation

endocrinology more details view paper
  • Downloaded 586 times
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Differences in Genetic Liability for Insomnia and Hypersomnia in Bipolar Disorder Subtypes

genomics more details view paper
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The absence of islet autoantibodies in clinically diagnosed older-adult onset type 1 diabetes suggests an alternative pathology, advocating for routine testing in this age group.

endocrinology more details view paper
  • Downloaded 183 times
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Functional interpretation of ATAD3A variants in neuro-mitochondrial phenotypes

genetics more details view paper
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The penetrance of age-related monogenic disease depends on ascertainment context

genetic and genomic medicine more details view paper
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Using joint models to adjust for informative drop-out when modelling a longitudinal biomarker: an application to type 2 diabetes disease progression

bioinformatics more details view paper
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