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Identification of Targetable Lesions in Anaplastic Thyroid Cancer by Genome Profiling

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Identification of Siglec-1 null individuals infected with HIV-1

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Translational plasticity facilitates the accumulation of nonsense genetic variants in the human populationPreprint

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Plasticity of Carbohydrate Transport at the Blood-Brain Barrier

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Identification of FAM173B as a protein methyltransferase promoting chronic pain

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From lipid locus to drug target through human genomics

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Assessment of coding region variants in Kuwaiti population: implications for medical genetics and population genomics

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Inherited heart disease – what can we expect from the second decade of human i PS cell research?

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Genetic compensation prevents myopathy and heart failure in an in vivo model of Bag3 deficiency

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Human Knockout Carriers: Dead, Diseased, Healthy, or Improved?

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Loss of podocalyxin causes a novel syndromic type of congenital nephrotic syndrome

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Functional Impact and Evolution of a Novel Human Polymorphic Inversion That Disrupts a Gene and Creates a Fusion Transcript

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The Characteristics of Heterozygous Protein Truncating Variants in the Human Genome

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Review: Neutrophils as Invigorated Targets in Rheumatic Diseases

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Role of METTL20 in regulating β-oxidation and heat production in mice under fasting or ketogenic conditions

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The Protein‐Coding Human Genome: Annotating High‐Hanging Fruits

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Carrier Screening is a Deficient Strategy for Determining Sperm Donor Eligibility and Reducing Risk of Disease in Recipient Children

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Genetic background and transplantation outcomes: insights from genome-wide association studies

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Natural human knockouts and the era of genotype to phenotype

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Epistasis in Neuropsychiatric Disorders

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Modelling the pathogenesis of Myotonic Dystrophy type 1 cardiac phenotype through human iPSC-derived cardiomyocytes

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The Human Knockout Project: Identifying Loss Of Function Variants In Large Population Datasets

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Proteomic and clinical impact of human knockouts in British South AsiansPreprint

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