Matches in SemOpenAlex for { <https://semopenalex.org/work/W4237420199> ?p ?o ?g. }
Showing items 1 to 82 of
82
with 100 items per page.
- W4237420199 abstract "Abstract Background: Disorders of gene dosage can significantly increase risk for psychopathology, but outcomes vary greatly amongst carriers of any given chromosomal aneuploidy or sub-chromosomal copy number variation (CNV). One potential path to advance precision medicine for neurogenetic disorders is modeling penetrance in probands relative to observed phenotypes in their non-carrier relatives. Here, we seek to advance this general analytic framework by developing new methods in application to XYY syndrome – a sex chromosome aneuploidy that is known to increase risk for psychopathology. Methods: We analyzed a range of cognitive and behavioral domains in XYY probands and their non-carrier family members (n = 58 families), including general cognitive ability (FSIQ), as well as continuous measures of traits related to autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD). Proband and relative scores were compared using covariance, regression and cluster analysis. Comparisons were made both within and across traits. Results: Proband scores were shifted away from family scores with effect sizes varying between 0.9 and 2.4 across traits. Only FSIQ and vocabulary scores showed a significant positive correlation between probands and their non-carrier relatives across families (R 2 ~ 0.4). Variability in family FSIQ also cross-predicted variability in proband ASD trait severity. Cluster analysis across all trait-relative pairings revealed that variability in parental psychopathology was more weakly coupled to their XYY versus their euploid offspring. Conclusions: We present a suite of generalizable methods for modeling variable penetrance in aneuploidy and CNV carriers using family data. These methods update estimates of phenotypic penetrance for XYY and suggests that the predictive utility of family data is likely to vary for different traits and different gene dosage disorders. Trial registrations: ClinicalTrials.gov NCT00001246, “89-M-0006: Brain Imaging of Childhood Onset Psychiatric Disorders, Endocrine Disorders and Healthy Controls.” Date of registry: 01/10/1989." @default.
- W4237420199 created "2022-05-12" @default.
- W4237420199 creator A5003688662 @default.
- W4237420199 creator A5013962429 @default.
- W4237420199 creator A5022715927 @default.
- W4237420199 creator A5024084122 @default.
- W4237420199 creator A5027144504 @default.
- W4237420199 creator A5050841822 @default.
- W4237420199 creator A5052607606 @default.
- W4237420199 creator A5059250686 @default.
- W4237420199 creator A5067422021 @default.
- W4237420199 creator A5069306290 @default.
- W4237420199 date "2020-11-11" @default.
- W4237420199 modified "2023-10-16" @default.
- W4237420199 title "Modeling Familial Predictors of Proband Outcomes in Neurogenetic Disorders: Initial Application in XYY Syndrome" @default.
- W4237420199 doi "https://doi.org/10.21203/rs.3.rs-26877/v2" @default.
- W4237420199 hasPublicationYear "2020" @default.
- W4237420199 type Work @default.
- W4237420199 citedByCount "0" @default.
- W4237420199 crossrefType "posted-content" @default.
- W4237420199 hasAuthorship W4237420199A5003688662 @default.
- W4237420199 hasAuthorship W4237420199A5013962429 @default.
- W4237420199 hasAuthorship W4237420199A5022715927 @default.
- W4237420199 hasAuthorship W4237420199A5024084122 @default.
- W4237420199 hasAuthorship W4237420199A5027144504 @default.
- W4237420199 hasAuthorship W4237420199A5050841822 @default.
- W4237420199 hasAuthorship W4237420199A5052607606 @default.
- W4237420199 hasAuthorship W4237420199A5059250686 @default.
- W4237420199 hasAuthorship W4237420199A5067422021 @default.
- W4237420199 hasAuthorship W4237420199A5069306290 @default.
- W4237420199 hasBestOaLocation W42374201991 @default.
- W4237420199 hasConcept C104317684 @default.
- W4237420199 hasConcept C118552586 @default.
- W4237420199 hasConcept C123273963 @default.
- W4237420199 hasConcept C127716648 @default.
- W4237420199 hasConcept C138496976 @default.
- W4237420199 hasConcept C15744967 @default.
- W4237420199 hasConcept C169900460 @default.
- W4237420199 hasConcept C187869287 @default.
- W4237420199 hasConcept C188997412 @default.
- W4237420199 hasConcept C200544954 @default.
- W4237420199 hasConcept C205778803 @default.
- W4237420199 hasConcept C2778538070 @default.
- W4237420199 hasConcept C2780783007 @default.
- W4237420199 hasConcept C501734568 @default.
- W4237420199 hasConcept C54355233 @default.
- W4237420199 hasConcept C70410870 @default.
- W4237420199 hasConcept C86803240 @default.
- W4237420199 hasConceptScore W4237420199C104317684 @default.
- W4237420199 hasConceptScore W4237420199C118552586 @default.
- W4237420199 hasConceptScore W4237420199C123273963 @default.
- W4237420199 hasConceptScore W4237420199C127716648 @default.
- W4237420199 hasConceptScore W4237420199C138496976 @default.
- W4237420199 hasConceptScore W4237420199C15744967 @default.
- W4237420199 hasConceptScore W4237420199C169900460 @default.
- W4237420199 hasConceptScore W4237420199C187869287 @default.
- W4237420199 hasConceptScore W4237420199C188997412 @default.
- W4237420199 hasConceptScore W4237420199C200544954 @default.
- W4237420199 hasConceptScore W4237420199C205778803 @default.
- W4237420199 hasConceptScore W4237420199C2778538070 @default.
- W4237420199 hasConceptScore W4237420199C2780783007 @default.
- W4237420199 hasConceptScore W4237420199C501734568 @default.
- W4237420199 hasConceptScore W4237420199C54355233 @default.
- W4237420199 hasConceptScore W4237420199C70410870 @default.
- W4237420199 hasConceptScore W4237420199C86803240 @default.
- W4237420199 hasLocation W42374201991 @default.
- W4237420199 hasLocation W42374201992 @default.
- W4237420199 hasOpenAccess W4237420199 @default.
- W4237420199 hasPrimaryLocation W42374201991 @default.
- W4237420199 hasRelatedWork W11008318 @default.
- W4237420199 hasRelatedWork W11594947 @default.
- W4237420199 hasRelatedWork W13561866 @default.
- W4237420199 hasRelatedWork W1465091 @default.
- W4237420199 hasRelatedWork W17186282 @default.
- W4237420199 hasRelatedWork W1738258 @default.
- W4237420199 hasRelatedWork W28726865 @default.
- W4237420199 hasRelatedWork W5759493 @default.
- W4237420199 hasRelatedWork W8220215 @default.
- W4237420199 hasRelatedWork W8445462 @default.
- W4237420199 isParatext "false" @default.
- W4237420199 isRetracted "false" @default.
- W4237420199 workType "article" @default.