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Résultat de la recherche
10 recherche sur le mot-clé 'Genomics'




Commentary: Will genomics revolutionise research on gene-environment interplay? / Robert PLOMIN in Journal of Child Psychology and Psychiatry, 63-10 (October 2022)
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Titre : Commentary: Will genomics revolutionise research on gene-environment interplay? Type de document : Texte imprimé et/ou numérique Auteurs : Robert PLOMIN, Auteur ; Essi VIDING, Auteur Année de publication : 2022 Article en page(s) : p.1214-1218 Langues : Anglais (eng) Mots-clés : Gene-Environment Interaction Genomics Humans Multifactorial Inheritance/genetics Psychopathology gene-environment correlation polygenic scores quantitative genomics Index. décimale : PER Périodiques Résumé : The synthesis of quantitative genetics and molecular genetics is transforming research in the behavioural sciences. The ability to measure inherited DNA differences directly has led to polygenic scores and to new methods to estimate heritability and genetic correlations. This issue provides examples of how these advances can be appllied to research on gene-environment interplay in developmental psychopathology. En ligne : http://dx.doi.org/10.1111/jcpp.13687 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=486
in Journal of Child Psychology and Psychiatry > 63-10 (October 2022) . - p.1214-1218[article] Commentary: Will genomics revolutionise research on gene-environment interplay? [Texte imprimé et/ou numérique] / Robert PLOMIN, Auteur ; Essi VIDING, Auteur . - 2022 . - p.1214-1218.
Langues : Anglais (eng)
in Journal of Child Psychology and Psychiatry > 63-10 (October 2022) . - p.1214-1218
Mots-clés : Gene-Environment Interaction Genomics Humans Multifactorial Inheritance/genetics Psychopathology gene-environment correlation polygenic scores quantitative genomics Index. décimale : PER Périodiques Résumé : The synthesis of quantitative genetics and molecular genetics is transforming research in the behavioural sciences. The ability to measure inherited DNA differences directly has led to polygenic scores and to new methods to estimate heritability and genetic correlations. This issue provides examples of how these advances can be appllied to research on gene-environment interplay in developmental psychopathology. En ligne : http://dx.doi.org/10.1111/jcpp.13687 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=486 The Philadelphia Neurodevelopmental Cohort: constructing a deep phenotyping collaborative / Monica E. CALKINS in Journal of Child Psychology and Psychiatry, 56-12 (December 2015)
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Titre : The Philadelphia Neurodevelopmental Cohort: constructing a deep phenotyping collaborative Type de document : Texte imprimé et/ou numérique Auteurs : Monica E. CALKINS, Auteur ; Kathleen R. MERIKANGAS, Auteur ; Tyler M. MOORE, Auteur ; Marcy BURSTEIN, Auteur ; Meckenzie A. BEHR, Auteur ; Theodore D. SATTERTHWAITE, Auteur ; Kosha RUPAREL, Auteur ; Daniel H. WOLF, Auteur ; David R. ROALF, Auteur ; Frank D. MENTCH, Auteur ; Haijun QIU, Auteur ; Rosetta CHIAVACCI, Auteur ; John J. CONNOLLY, Auteur ; Patrick M. A. SLEIMAN, Auteur ; Ruben C. GUR, Auteur ; Hakon HAKONARSON, Auteur ; Raquel E. GUR, Auteur Article en page(s) : p.1356-1369 Langues : Anglais (eng) Mots-clés : Community cohort children adolescents young adults psychopathology mood anxiety behavior psychosis comorbidity structure genomics neuroimaging neurocognition public domain Index. décimale : PER Périodiques Résumé : Background An integrative multidisciplinary approach is required to elucidate the multiple factors that shape neurodevelopmental trajectories of mental disorders. The Philadelphia Neurodevelopmental Cohort (PNC), funded by the National Institute of Mental Health Grand Opportunity (GO) mechanism of the American Recovery and Reinvestment Act, was designed to characterize clinical and neurobehavioral phenotypes of genotyped youths. Data generated, which are recently available through the NIMH Database of Genotypes and Phenotypes (dbGaP), have garnered considerable interest. We provide an overview of PNC recruitment and clinical assessment methods to allow informed use and interpretation of the PNC resource by the scientific community. We also evaluate the structure of the assessment tools and their criterion validity. Methods Participants were recruited from a large pool of youths (n = 13,958) previously identified and genotyped at The Children's Hospital of Philadelphia. A comprehensive computerized tool for structured evaluation of psychopathology domains (GOASSESS) was constructed. We administered GOASSESS to all participants and used factor analysis to evaluate its structure. Results A total of 9,498 youths (aged 8–21; mean age = 14.2; European American = 55.8%; African American = 32.9%; Other = 11.4%) were enrolled. Factor analysis revealed a strong general psychopathology factor, and specific ‘anxious-misery’, ‘fear’, and ‘behavior’ factors. The ‘behavior’ factor had a small negative correlation (?0.21) with overall accuracy of neurocognitive performance, particularly in tests of executive and complex reasoning. Being female had a high association with the ‘anxious-misery’ and low association with the ‘behavior’ factors. The psychosis spectrum was also best characterized by a general factor and three specific factors: ideas about ‘special abilities/persecution,’ ‘unusual thoughts/perceptions’, and ‘negative/disorganized’ symptoms. Conclusions The PNC assessment mechanism yielded psychopathology data with strong factorial validity in a large diverse community cohort of genotyped youths. Factor scores should be useful for dimensional integration with other modalities (neuroimaging, genomics). Thus, PNC public domain resources can advance understanding of complex inter-relationships among genes, cognition, brain, and behavior involved in neurodevelopment of common mental disorders. En ligne : http://dx.doi.org/10.1111/jcpp.12416 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=273
in Journal of Child Psychology and Psychiatry > 56-12 (December 2015) . - p.1356-1369[article] The Philadelphia Neurodevelopmental Cohort: constructing a deep phenotyping collaborative [Texte imprimé et/ou numérique] / Monica E. CALKINS, Auteur ; Kathleen R. MERIKANGAS, Auteur ; Tyler M. MOORE, Auteur ; Marcy BURSTEIN, Auteur ; Meckenzie A. BEHR, Auteur ; Theodore D. SATTERTHWAITE, Auteur ; Kosha RUPAREL, Auteur ; Daniel H. WOLF, Auteur ; David R. ROALF, Auteur ; Frank D. MENTCH, Auteur ; Haijun QIU, Auteur ; Rosetta CHIAVACCI, Auteur ; John J. CONNOLLY, Auteur ; Patrick M. A. SLEIMAN, Auteur ; Ruben C. GUR, Auteur ; Hakon HAKONARSON, Auteur ; Raquel E. GUR, Auteur . - p.1356-1369.
Langues : Anglais (eng)
in Journal of Child Psychology and Psychiatry > 56-12 (December 2015) . - p.1356-1369
Mots-clés : Community cohort children adolescents young adults psychopathology mood anxiety behavior psychosis comorbidity structure genomics neuroimaging neurocognition public domain Index. décimale : PER Périodiques Résumé : Background An integrative multidisciplinary approach is required to elucidate the multiple factors that shape neurodevelopmental trajectories of mental disorders. The Philadelphia Neurodevelopmental Cohort (PNC), funded by the National Institute of Mental Health Grand Opportunity (GO) mechanism of the American Recovery and Reinvestment Act, was designed to characterize clinical and neurobehavioral phenotypes of genotyped youths. Data generated, which are recently available through the NIMH Database of Genotypes and Phenotypes (dbGaP), have garnered considerable interest. We provide an overview of PNC recruitment and clinical assessment methods to allow informed use and interpretation of the PNC resource by the scientific community. We also evaluate the structure of the assessment tools and their criterion validity. Methods Participants were recruited from a large pool of youths (n = 13,958) previously identified and genotyped at The Children's Hospital of Philadelphia. A comprehensive computerized tool for structured evaluation of psychopathology domains (GOASSESS) was constructed. We administered GOASSESS to all participants and used factor analysis to evaluate its structure. Results A total of 9,498 youths (aged 8–21; mean age = 14.2; European American = 55.8%; African American = 32.9%; Other = 11.4%) were enrolled. Factor analysis revealed a strong general psychopathology factor, and specific ‘anxious-misery’, ‘fear’, and ‘behavior’ factors. The ‘behavior’ factor had a small negative correlation (?0.21) with overall accuracy of neurocognitive performance, particularly in tests of executive and complex reasoning. Being female had a high association with the ‘anxious-misery’ and low association with the ‘behavior’ factors. The psychosis spectrum was also best characterized by a general factor and three specific factors: ideas about ‘special abilities/persecution,’ ‘unusual thoughts/perceptions’, and ‘negative/disorganized’ symptoms. Conclusions The PNC assessment mechanism yielded psychopathology data with strong factorial validity in a large diverse community cohort of genotyped youths. Factor scores should be useful for dimensional integration with other modalities (neuroimaging, genomics). Thus, PNC public domain resources can advance understanding of complex inter-relationships among genes, cognition, brain, and behavior involved in neurodevelopment of common mental disorders. En ligne : http://dx.doi.org/10.1111/jcpp.12416 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=273 Combining multivariate genomic approaches to elucidate the comorbidity between autism spectrum disorder and attention deficit hyperactivity disorder / H. PEYRE in Journal of Child Psychology and Psychiatry, 62-11 (November 2021)
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Titre : Combining multivariate genomic approaches to elucidate the comorbidity between autism spectrum disorder and attention deficit hyperactivity disorder Type de document : Texte imprimé et/ou numérique Auteurs : H. PEYRE, Auteur ; T. SCHOELER, Auteur ; C. LIU, Auteur ; C. M. WILLIAMS, Auteur ; N. HOERTEL, Auteur ; A. HAVDAHL, Auteur ; J. B. PINGAULT, Auteur Article en page(s) : p.1285-1296 Langues : Anglais (eng) Mots-clés : Attention Deficit Disorder with Hyperactivity/epidemiology/genetics Autism Spectrum Disorder/epidemiology/genetics Comorbidity Genome-Wide Association Study Genomics Humans Paired Box Transcription Factors/genetics Polymorphism, Single Nucleotide Repressor Proteins/genetics Autism spectrum disorder Gwas Snp attention deficit hyperactivity disorder colocalization common genetic variants comorbidity genomic structural equation modelling Index. décimale : PER Périodiques Résumé : BACKGROUND: Attention deficit hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) are two highly heritable neurodevelopmental disorders. Several lines of evidence point towards the presence of shared genetic factors underlying ASD and ADHD. We conducted genomic analyses of common risk variants (i.e. single nucleotide polymorphisms, SNPs) shared by ASD and ADHD, and those specific to each disorder. METHODS: With the summary data from two GWAS, one on ASD (N = 46,350) and another on ADHD (N = 55,374) individuals, we used genomic structural equation modelling and colocalization analysis to identify SNPs shared by ASD and ADHD and SNPs specific to each disorder. Functional genomic analyses were then conducted on shared and specific common genetic variants. Finally, we performed a bidirectional Mendelian randomization analysis to test whether the shared genetic risk between ASD and ADHD was interpretable in terms of reciprocal relationships between ASD and ADHD. RESULTS: We found that 37.5% of the SNPs associated with ASD (at p < 1e-6) colocalized with ADHD SNPs and that 19.6% of the SNPs associated with ADHD colocalized with ASD SNPs. We identified genes mapped to SNPs that are specific to ASD or ADHD and that are shared by ASD and ADHD, including two novel genes INSM1 and PAX1. Our bidirectional Mendelian randomization analyses indicated that the risk of ASD was associated with an increased risk of ADHD and vice versa. CONCLUSIONS: Using multivariate genomic analyses, the present study uncovers shared and specific genetic variants associated with ASD and ADHD. Further functional investigation of genes mapped to those shared variants may help identify pathophysiological pathways and new targets for treatment. En ligne : http://dx.doi.org/10.1111/jcpp.13479 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=456
in Journal of Child Psychology and Psychiatry > 62-11 (November 2021) . - p.1285-1296[article] Combining multivariate genomic approaches to elucidate the comorbidity between autism spectrum disorder and attention deficit hyperactivity disorder [Texte imprimé et/ou numérique] / H. PEYRE, Auteur ; T. SCHOELER, Auteur ; C. LIU, Auteur ; C. M. WILLIAMS, Auteur ; N. HOERTEL, Auteur ; A. HAVDAHL, Auteur ; J. B. PINGAULT, Auteur . - p.1285-1296.
Langues : Anglais (eng)
in Journal of Child Psychology and Psychiatry > 62-11 (November 2021) . - p.1285-1296
Mots-clés : Attention Deficit Disorder with Hyperactivity/epidemiology/genetics Autism Spectrum Disorder/epidemiology/genetics Comorbidity Genome-Wide Association Study Genomics Humans Paired Box Transcription Factors/genetics Polymorphism, Single Nucleotide Repressor Proteins/genetics Autism spectrum disorder Gwas Snp attention deficit hyperactivity disorder colocalization common genetic variants comorbidity genomic structural equation modelling Index. décimale : PER Périodiques Résumé : BACKGROUND: Attention deficit hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) are two highly heritable neurodevelopmental disorders. Several lines of evidence point towards the presence of shared genetic factors underlying ASD and ADHD. We conducted genomic analyses of common risk variants (i.e. single nucleotide polymorphisms, SNPs) shared by ASD and ADHD, and those specific to each disorder. METHODS: With the summary data from two GWAS, one on ASD (N = 46,350) and another on ADHD (N = 55,374) individuals, we used genomic structural equation modelling and colocalization analysis to identify SNPs shared by ASD and ADHD and SNPs specific to each disorder. Functional genomic analyses were then conducted on shared and specific common genetic variants. Finally, we performed a bidirectional Mendelian randomization analysis to test whether the shared genetic risk between ASD and ADHD was interpretable in terms of reciprocal relationships between ASD and ADHD. RESULTS: We found that 37.5% of the SNPs associated with ASD (at p < 1e-6) colocalized with ADHD SNPs and that 19.6% of the SNPs associated with ADHD colocalized with ASD SNPs. We identified genes mapped to SNPs that are specific to ASD or ADHD and that are shared by ASD and ADHD, including two novel genes INSM1 and PAX1. Our bidirectional Mendelian randomization analyses indicated that the risk of ASD was associated with an increased risk of ADHD and vice versa. CONCLUSIONS: Using multivariate genomic analyses, the present study uncovers shared and specific genetic variants associated with ASD and ADHD. Further functional investigation of genes mapped to those shared variants may help identify pathophysiological pathways and new targets for treatment. En ligne : http://dx.doi.org/10.1111/jcpp.13479 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=456 Commentary: We've only just begun: unravelling the underlying genetics of neurodevelopmental disorders – a commentary on Kiser et al. () / David COGHILL in Journal of Child Psychology and Psychiatry, 56-3 (March 2015)
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Titre : Commentary: We've only just begun: unravelling the underlying genetics of neurodevelopmental disorders – a commentary on Kiser et al. () Type de document : Texte imprimé et/ou numérique Auteurs : David COGHILL, Auteur Article en page(s) : p.296-298 Langues : Anglais (eng) Mots-clés : Neurodevelopmental disorders genetic variations genomics neurobiology shared cognitive deficits de novo mutations Index. décimale : PER Périodiques Résumé : Kiser and colleagues (this issue) have presented us with a comprehensive and bold review that describes current understanding of the genetic influences that underpin three of the most important neurodevelopmental disorders: attention deficit hyperactivity disorder (ADHD), autism spectrum disorder (ASD) and intellectual disability (ID), and explores several new avenues of thinking that are opening up based on this knowledge. Based on phenotypic overlap, comorbidity and a sharing of genetic and environmental risks they propose that ADHD, ASD and ID together form part of a continuum. The idea that disorders we have traditionally seen as being separate are in fact inter-related is, of course, not an entirely new one and indeed has similarly been proposed for the developmental disorders by Gillberg and in a more general way as a part of the NIMH Research Domain Criteria (RDoC) project. Where this review differs is in the authors’ attempts to look at several possible mechanisms for these. En ligne : http://dx.doi.org/10.1111/jcpp.12399 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=260
in Journal of Child Psychology and Psychiatry > 56-3 (March 2015) . - p.296-298[article] Commentary: We've only just begun: unravelling the underlying genetics of neurodevelopmental disorders – a commentary on Kiser et al. () [Texte imprimé et/ou numérique] / David COGHILL, Auteur . - p.296-298.
Langues : Anglais (eng)
in Journal of Child Psychology and Psychiatry > 56-3 (March 2015) . - p.296-298
Mots-clés : Neurodevelopmental disorders genetic variations genomics neurobiology shared cognitive deficits de novo mutations Index. décimale : PER Périodiques Résumé : Kiser and colleagues (this issue) have presented us with a comprehensive and bold review that describes current understanding of the genetic influences that underpin three of the most important neurodevelopmental disorders: attention deficit hyperactivity disorder (ADHD), autism spectrum disorder (ASD) and intellectual disability (ID), and explores several new avenues of thinking that are opening up based on this knowledge. Based on phenotypic overlap, comorbidity and a sharing of genetic and environmental risks they propose that ADHD, ASD and ID together form part of a continuum. The idea that disorders we have traditionally seen as being separate are in fact inter-related is, of course, not an entirely new one and indeed has similarly been proposed for the developmental disorders by Gillberg and in a more general way as a part of the NIMH Research Domain Criteria (RDoC) project. Where this review differs is in the authors’ attempts to look at several possible mechanisms for these. En ligne : http://dx.doi.org/10.1111/jcpp.12399 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=260 Comprehensive Genetic Analysis of Non-syndromic Autism Spectrum Disorder in Clinical Settings / K. OHASHI in Journal of Autism and Developmental Disorders, 51-12 (December 2021)
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Titre : Comprehensive Genetic Analysis of Non-syndromic Autism Spectrum Disorder in Clinical Settings Type de document : Texte imprimé et/ou numérique Auteurs : K. OHASHI, Auteur ; S. FUKUHARA, Auteur ; T. MIYACHI, Auteur ; T. ASAI, Auteur ; M. IMAEDA, Auteur ; M. GOTO, Auteur ; Y. KUROKAWA, Auteur ; T. ANZAI, Auteur ; Y. TSURUSAKI, Auteur ; N. MIYAKE, Auteur ; N. MATSUMOTO, Auteur ; T. YAMAGATA, Auteur ; S. SAITOH, Auteur Article en page(s) : p.4655-4662 Langues : Anglais (eng) Mots-clés : Autism Spectrum Disorder/diagnosis/genetics Comparative Genomic Hybridization DNA Copy Number Variations Genetic Predisposition to Disease Genetic Testing Genomics Humans Autism spectrum disorder Genetic analysis Microarray comparative genomic hybridization Whole-exome sequencing Index. décimale : PER Périodiques Résumé : Although genetic factors are involved in the etiology of autism spectrum disorder (ASD), the significance of genetic analysis in clinical settings is unclear. Forty-nine subjects diagnosed with non-syndromic ASD were analyzed by microarray comparative genomic hybridization (CGH) analysis, whole-exome sequencing (WES) analysis, and panel sequencing analysis for 52 common causative genes of ASD to detect inherited rare variants. Genetic analysis by microarray CGH and WES analyses showed conclusive results in about 10% of patients, however, many inherited variants detected by panel sequencing analysis were difficult to interpret and apply in clinical practice in the majority of patients. Further improvement of interpretation of many variants detected would be necessary for combined genetic tests to be used in clinical settings. En ligne : http://dx.doi.org/10.1007/s10803-021-04910-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=454
in Journal of Autism and Developmental Disorders > 51-12 (December 2021) . - p.4655-4662[article] Comprehensive Genetic Analysis of Non-syndromic Autism Spectrum Disorder in Clinical Settings [Texte imprimé et/ou numérique] / K. OHASHI, Auteur ; S. FUKUHARA, Auteur ; T. MIYACHI, Auteur ; T. ASAI, Auteur ; M. IMAEDA, Auteur ; M. GOTO, Auteur ; Y. KUROKAWA, Auteur ; T. ANZAI, Auteur ; Y. TSURUSAKI, Auteur ; N. MIYAKE, Auteur ; N. MATSUMOTO, Auteur ; T. YAMAGATA, Auteur ; S. SAITOH, Auteur . - p.4655-4662.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 51-12 (December 2021) . - p.4655-4662
Mots-clés : Autism Spectrum Disorder/diagnosis/genetics Comparative Genomic Hybridization DNA Copy Number Variations Genetic Predisposition to Disease Genetic Testing Genomics Humans Autism spectrum disorder Genetic analysis Microarray comparative genomic hybridization Whole-exome sequencing Index. décimale : PER Périodiques Résumé : Although genetic factors are involved in the etiology of autism spectrum disorder (ASD), the significance of genetic analysis in clinical settings is unclear. Forty-nine subjects diagnosed with non-syndromic ASD were analyzed by microarray comparative genomic hybridization (CGH) analysis, whole-exome sequencing (WES) analysis, and panel sequencing analysis for 52 common causative genes of ASD to detect inherited rare variants. Genetic analysis by microarray CGH and WES analyses showed conclusive results in about 10% of patients, however, many inherited variants detected by panel sequencing analysis were difficult to interpret and apply in clinical practice in the majority of patients. Further improvement of interpretation of many variants detected would be necessary for combined genetic tests to be used in clinical settings. En ligne : http://dx.doi.org/10.1007/s10803-021-04910-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=454 Integrative analysis of genomic and exposomic influences on youth mental health / Karmel W. CHOI in Journal of Child Psychology and Psychiatry, 63-10 (October 2022)
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PermalinkMaternal antenatal depression and child mental health: Moderation by genomic risk for attention-deficit/hyperactivity disorder / Lawrence M. CHEN in Development and Psychopathology, 32-5 (December 2020)
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PermalinkPlacental methylome analysis from a prospective autism study / D. I. SCHROEDER in Molecular Autism, 7 (2016)
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PermalinkThe p factor: genetic analyses support a general dimension of psychopathology in childhood and adolescence / Andrea G. ALLEGRINI in Journal of Child Psychology and Psychiatry, 61-1 (January 2020)
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PermalinkWhat do parents of nonverbal and minimally verbal autistic children think about genomic autism research? / Umar TOSEEB ; Naomi BARROW in Autism, 28-7 (July 2024)
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