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        EVC-EVC2 complex stability and ciliary targeting are regulated by modification with ubiquitin and SUMO

        Ellis van Creveld syndrome and Weyers acrofacial dysostosis are two rare genetic diseases affecting skeletal development. They are both ciliopathies, as they are due to malfunction of primary cilia, microtubule-based plasma membrane protrusions that function as cellular antennae and are required for Hedgehog signaling, a key pathway during skeletal morphogenesis. ...

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        A genome-wide association study of total child psychiatric problems scores

        Substantial genetic correlations have been reported across psychiatric disorders and numerous cross-disorder genetic variants have been detected. To identify the genetic variants underlying general psychopathology in childhood, we performed a genome-wide association study using a total psychiatric problem score. ...

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        Beta-lactam-induced immediate hypersensitivity reactions: A genome-wide association study of a deeply phenotyped cohort

        Background: β-lactam antibiotics are associated with a variety of immune-mediated or hypersensitivity reactions, including immediate (type I) reactions mediated by antigen-specific IgE. Objective: We sought to identify genetic predisposing factors for immediate reactions to β-lactam antibiotics. ...

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        The Human Phenotype Ontology: Semantic Unification of Common and Rare Disease.

        The Human Phenotype Ontology (HPO) is widely used in the rare disease community for differential diagnostics, phenotype-driven analysis... ...

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        Familial aggregation of malignant mesothelioma in former workers and residents of Wittenoom, Western Australia

        Clustering of cases of malignant mesothelioma within families has often been observed, but disentangling genetic and exposure effects has not been done. ...

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        Airway-associated adipose tissue accumulation is increased in a kisspeptin receptor knockout mouse model

        Airway-associated adipose tissue increases with body mass index and is a local source of pro-inflammatory adipokines that may contribute to airway pathology in asthma co-existing with obesity. Genetic susceptibility to airway adiposity was considered in the present study through kisspeptin/kisspeptin receptor signalling, known to modulate systemic adiposity and potentially drive airway remodelling.  ...

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        Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders

        We aimed to define the clinical and variant spectrum and to provide novel molecular insights into the DHX30-associated neurodevelopmental disorder. Clinical and genetic data from affected individuals were collected through Facebook-based family support group, GeneMatcher, and our network of collaborators. ...

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        Inherited balanced translocation t(9;17)(q33.2;q25.3) concomitant with a 16p13.1

        We report two rare genetic aberrations in a schizophrenia patient that may act together to confer disease susceptibility ...

        Research

        Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis

        This paper analyses genetic association data on biochemical markers of iron status from 11 European-population studies, with replication in eight additional... ...

        Research

        Genome-wide analyses of individual differences in quantitatively assessed reading- and language-related skills in up to 34,000 people

        The use of spoken and written language is a fundamental human capacity. Individual differences in reading- and language-related skills are influenced by genetic variation, with twin-based heritability estimates of 30 to 80% depending on the trait. The genetic architecture is complex, heterogeneous, and multifactorial, but investigations of contributions of single-nucleotide polymorphisms (SNPs) were thus far underpowered. ...

        Research

        Confirmation of childhood acute lymphoblastic leukemia Variants, ARID5B and IKZF1, and interaction with parental environmental exposures

        The polygenic nature of childhood ALL predisposition together with the timing of environmental triggers may hold vital clues for disease etiology. ...

        Research

        Allelic bias when performing in-solution enrichment of ancient human DNA

        In-solution hybridisation enrichment of genetic variation is a valuable methodology in human paleogenomics. It allows enrichment of endogenous DNA by targeting genetic markers that are comparable between sequencing libraries. Many studies have used the 1240k reagent-which enriches 1,237,207 genome-wide SNPs-since 2015, though access was restricted. ...

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