| 1. |
- Laurie, Steven, et al.
(författare)
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The RD-Connect Genome-Phenome Analysis Platform : Accelerating diagnosis, research, and gene discovery for rare diseases
- 2022
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Ingår i: Human Mutation. - : John Wiley & Sons. - 1059-7794 .- 1098-1004. ; 43:6, s. 717-733
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Tidskriftsartikel (refereegranskat)abstract
- Rare disease patients are more likely to receive a rapid molecular diagnosis nowadays thanks to the wide adoption of next-generation sequencing. However, many cases remain undiagnosed even after exome or genome analysis, because the methods used missed the molecular cause in a known gene, or a novel causative gene could not be identified and/or confirmed. To address these challenges, the RD-Connect Genome-Phenome Analysis Platform (GPAP) facilitates the collation, discovery, sharing, and analysis of standardized genome-phenome data within a collaborative environment. Authorized clinicians and researchers submit pseudonymised phenotypic profiles encoded using the Human Phenotype Ontology, and raw genomic data which is processed through a standardized pipeline. After an optional embargo period, the data are shared with other platform users, with the objective that similar cases in the system and queries from peers may help diagnose the case. Additionally, the platform enables bidirectional discovery of similar cases in other databases from the Matchmaker Exchange network. To facilitate genome-phenome analysis and interpretation by clinical researchers, the RD-Connect GPAP provides a powerful user-friendly interface and leverages tens of information sources. As a result, the resource has already helped diagnose hundreds of rare disease patients and discover new disease causing genes.
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| 2. |
- López-Romero, Laura, et al.
(författare)
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Psychopathic Personality Configurations in Early Childhood : A Response to Dvoskin et al. (2022)
- 2022
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Ingår i: Journal of Personality Disorders. - : Guilford Publications. - 0885-579X .- 1943-2763. ; 36:3, s. 254-263
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Tidskriftsartikel (refereegranskat)abstract
- Dvoskin et al. (2022) offered a cautionary comment on an article published in the Journal of Personality Disorders (López-Romero et al., 2021). This comment was focused on the scientific and policy grounds of our study, and cautioned against the use of the "putative psychopathic personality" label for applied purposes. While we agree with most of their concerns and cautions, we aim to provide additional clarification on the raised concerns, noting that the purpose of our study is purely exploratory, and that its findings are not intended for applied purposes. We do expect that our study and this commentary will further clarify the importance of examining psychopathic personality from a developmental perspective, opening new ways of discussion regarding how to best conceptualize and study a construct that, while waiting for additional longitudinal research, has been shown as relevant in identifying a group of children and adolescents at increased risk for maladjustment.
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| 3. |
- López-Romero, Laura, et al.
(författare)
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Testing the predictive and incremental validity of callous-unemotional traits versus the multidimensional psychopathy construct in preschool children
- 2022
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Ingår i: Journal of criminal justice. - : Elsevier. - 0047-2352 .- 1873-6203. ; 80
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Tidskriftsartikel (refereegranskat)abstract
- This study aimed to test the predictive and incremental value of psychopathic trait dimensions in early childhood. To this end, a callous-unemotional (CU)-based approach was compared to the multidimensional psychopathic personality approach in predicting future and stable conduct problems (CP) and aggression, whilst controlling for well-established risk factors for child CP. Prospective longitudinal data were collected from a community sample of 2247 children (48.6% girls) aged three to six (Mage = 4.25; SD = 0.91) at the initial assessment. Participants were followed annually for two years, with information provided by parents. Children were assigned to six mutually exclusive groups based on their baseline levels of psychopathic traits and conduct problems. Results showed that, after accounting for sociodemographic variables, temperamental features (e.g., fearlessness), and ADHD symptoms, children scoring high in all psychopathic traits and high in CP were at increased risk to display future and stable CP, reactive and proactive aggression, followed by the group of children high in CU traits and CP. Future research on child psychopathy may benefit from considering the constellation of co-occurring interpersonal, affective and behavioral psychopathic traits, and could inform developmental models aiming to explain heterogeneity in child CP.
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