Search Results - "Vuckovic, Dragana"
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Genetic variation in cervical preinvasive and invasive disease: a genome-wide association study
Published in The lancet oncology (01-04-2021)“…Most uterine cervical high-risk human papillomavirus (HPV) infections are transient, with only a small fraction developing into cervical cancer. Family…”
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A bird's-eye view of Italian genomic variation through whole-genome sequencing
Published in European journal of human genetics : EJHG (01-04-2020)“…The genomic variation of the Italian peninsula populations is currently under characterised: the only Italian whole-genome reference is represented by the…”
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A genome-wide meta-analysis yields 46 new loci associating with biomarkers of iron homeostasis
Published in Communications biology (03-02-2021)“…Iron is essential for many biological functions and iron deficiency and overload have major health implications. We performed a meta-analysis of three…”
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4
Next-generation sequencing identified SPATC1L as a possible candidate gene for both early-onset and age-related hearing loss
Published in European journal of human genetics : EJHG (01-01-2019)“…Hereditary hearing loss (HHL) and age-related hearing loss (ARHL) are two major sensory diseases affecting millions of people worldwide. Despite many efforts,…”
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Linkage study and exome sequencing identify a BDP1 mutation associated with hereditary hearing loss
Published in PloS one (02-12-2013)“…Nonsyndromic Hereditary Hearing Loss is a common disorder accounting for at least 60% of prelingual deafness. GJB2 gene mutations, GJB6 deletion, and the…”
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Expression and replication studies to identify new candidate genes involved in normal hearing function
Published in PloS one (14-01-2014)“…Considerable progress has been made in identifying deafness genes, but still little is known about the genetic basis of normal variation in hearing function…”
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Mutations in L-type amino acid transporter-2 support SLC7A8 as a novel gene involved in age-related hearing loss
Published in eLife (22-01-2018)“…Age-related hearing loss (ARHL) is the most common sensory deficit in the elderly. The disease has a multifactorial etiology with both environmental and…”
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Biological age estimation using circulating blood biomarkers
Published in Communications biology (26-10-2023)“…Biological age captures physiological deterioration better than chronological age and is amenable to interventions. Blood-based biomarkers have been identified…”
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Machine learning optimized polygenic scores for blood cell traits identify sex-specific trajectories and genetic correlations with disease
Published in Cell genomics (12-01-2022)“…Genetic association studies for blood cell traits, which are key indicators of health and immune function, have identified several hundred associations and…”
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Automated calibration of consensus weighted distance-based clustering approaches using sharp
Published in Bioinformatics (Oxford, England) (01-11-2023)“…Abstract Motivation In consensus clustering, a clustering algorithm is used in combination with a subsampling procedure to detect stable clusters. Previous…”
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Advances in understanding the pathogenesis of hereditary macrothrombocytopenia
Published in British journal of haematology (01-10-2021)“…Summary Low platelet count, or thrombocytopenia, is a common haematological abnormality, with a wide differential diagnosis, which may represent a clinically…”
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Machine Learning for Identification of High-Risk Clonal Haematopoiesis Using Blood Count Data
Published in Blood (02-11-2023)“…Introduction: Clonal haematopoiesis (CH) is a common, age-related phenomenon associated with an increased risk of myeloid malignancies (MM), raising the…”
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Polygenic Germline Risk of Common Haematological Traits Drives Clonal Selection on JAK2 V617F and Development of Myeloproliferative Neoplasms
Published in Blood (02-11-2023)“…Polygenic germline loci are a major contributor to population variation in common blood cell traits, but little is known about how such predisposition…”
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Educational patterning in biological health seven years apart: Findings from the Tromsø Study
Published in Psychoneuroendocrinology (01-02-2024)“…Social-to-biological processes is one set of mechanisms underlying the relationship between social position and health. However, very few studies have focused…”
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Association of hair polychlorinated biphenyls and multiclass pesticides with obesity, diabetes, hypertension and dyslipidemia in NESCAV study
Published in Journal of hazardous materials (05-01-2024)“…Obesity, diabetes, hypertension and dyslipidemia are well-established risk factors for cardiovascular diseases (CVDs), and have been associated with exposure…”
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Inherited polygenic effects on common hematological traits influence clonal selection on JAK2V617F and the development of myeloproliferative neoplasms
Published in Nature genetics (01-02-2024)“…Myeloproliferative neoplasms (MPNs) are chronic cancers characterized by overproduction of mature blood cells. Their causative somatic mutations, for example,…”
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Hair-Derived Exposome Exploration of Cardiometabolic Health: Piloting a Bayesian Multitrait Variable Selection Approach
Published in Environmental science & technology (26-03-2024)“…Cardiometabolic health is complex and characterized by an ensemble of correlated and/or co-occurring conditions including obesity, dyslipidemia, hypertension,…”
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Transcriptome-wide association study in UK Biobank Europeans identifies associations with blood cell traits
Published in Human molecular genetics (21-07-2022)“…Abstract Previous genome-wide association studies (GWAS) of hematological traits have identified over 10 000 distinct trait-specific risk loci. However, at…”
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Genome-wide association meta-analysis of individuals of European ancestry identifies new loci explaining a substantial fraction of hair color variation and heritability
Published in Nature genetics (01-05-2018)“…Hair color is one of the most recognizable visual traits in European populations and is under strong genetic control. Here we report the results of a…”
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The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants
Published in Blood (14-12-2023)“…•Rare variants causal of recessive hemostasis disorders have clinical consequences in carriers.•Common variants modify these consequences and are one of the…”
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