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Author: Richard C Trembath

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  • All-time downloads: 13,719 (rank: 4,985 (tie) out of 383,441)
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    • bioinformatics: 2,749 (rank: 3,776 (tie) out of 32,805)
    • genetics: 3,226 (rank: 4,487 (tie) out of 35,367)
    • genomics: 7,744 (rank: 2,023 out of 40,807)

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Preprints

Evaluating potential drug targets through human loss-of-function genetic variation

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Genetic correlations among psychiatric and immune-related phenotypes based on genome-wide association data.

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Identification of novel rare sequence variation underlying heritable pulmonary arterial hypertension

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Genomic dissection of bipolar disorder and schizophrenia including 28 subphenotypes

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A direct multi-generational estimate of the human mutation rate from autozygous segments seen in thousands of parentally related individuals

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Cohort Profile: East London Genes & Health (ELGH), a community based population genomics and health study of British-Bangladeshi and British-Pakistani people.

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Deep phenotyping of a healthy human HAO1 knockout informs therapeutic development for primary hyperoxaluria type 1.

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Genetic determinants of risk and survival in pulmonary arterial hypertension

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Reduced transfer coefficient of carbon monoxide in pulmonary arterial hypertension implicates rare protein-truncating variants in KDR

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Rare variant analysis of 4,241 pulmonary arterial hypertension cases from an international consortium implicate FBLN2, PDGFD and rare de novo variants in PAH

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