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Détail de l'auteur
Auteur Daniel H. GESCHWIND |
Documents disponibles écrits par cet auteur (6)
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Brief Report: Under-Representation of African Americans in Autism Genetic Research: A Rationale for Inclusion of Subjects Representing Diverse Family Structures / Claudia HILTON in Journal of Autism and Developmental Disorders, 40-5 (May 2010)
[article]
Titre : Brief Report: Under-Representation of African Americans in Autism Genetic Research: A Rationale for Inclusion of Subjects Representing Diverse Family Structures Type de document : Texte imprimé et/ou numérique Auteurs : Claudia HILTON, Auteur ; John N. CONSTANTINO, Auteur ; Paul T. SHATTUCK, Auteur ; Rolanda A. MAXIM, Auteur ; Robert T. FITZGERALD, Auteur ; Kelley M. JACKSON, Auteur ; Christopher C. BOSWORTH, Auteur ; Daniel H. GESCHWIND, Auteur Année de publication : 2010 Article en page(s) : p.633-639 Langues : Anglais (eng) Mots-clés : Ethnicity African-American Minority-representation Index. décimale : PER Périodiques Résumé : African American children with autism are seriously under-represented in existing genetic registries and biomedical research studies of autism. We estimated the number of African American children with autism in the St. Louis region using CDC surveillance data and present the outcomes of a concerted effort to enroll approximately one-third of that population into either of two large national genetic autism registries. The results revealed that even after traditional barriers to research participation were addressed and all contacted families expressed a willingness to participate, 67% of the reachable families were disqualified from participation because of family structure alone. Comprehensive efforts—including expansion of eligibility to families of diverse structure—are warranted to facilitate the inclusion of African American children in biomedical research. En ligne : http://dx.doi.org/10.1007/s10803-009-0905-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=101
in Journal of Autism and Developmental Disorders > 40-5 (May 2010) . - p.633-639[article] Brief Report: Under-Representation of African Americans in Autism Genetic Research: A Rationale for Inclusion of Subjects Representing Diverse Family Structures [Texte imprimé et/ou numérique] / Claudia HILTON, Auteur ; John N. CONSTANTINO, Auteur ; Paul T. SHATTUCK, Auteur ; Rolanda A. MAXIM, Auteur ; Robert T. FITZGERALD, Auteur ; Kelley M. JACKSON, Auteur ; Christopher C. BOSWORTH, Auteur ; Daniel H. GESCHWIND, Auteur . - 2010 . - p.633-639.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 40-5 (May 2010) . - p.633-639
Mots-clés : Ethnicity African-American Minority-representation Index. décimale : PER Périodiques Résumé : African American children with autism are seriously under-represented in existing genetic registries and biomedical research studies of autism. We estimated the number of African American children with autism in the St. Louis region using CDC surveillance data and present the outcomes of a concerted effort to enroll approximately one-third of that population into either of two large national genetic autism registries. The results revealed that even after traditional barriers to research participation were addressed and all contacted families expressed a willingness to participate, 67% of the reachable families were disqualified from participation because of family structure alone. Comprehensive efforts—including expansion of eligibility to families of diverse structure—are warranted to facilitate the inclusion of African American children in biomedical research. En ligne : http://dx.doi.org/10.1007/s10803-009-0905-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=101 CNTNAP2 and autism spectrum disorders / Olga PENAGARIKANO
Titre : CNTNAP2 and autism spectrum disorders Type de document : Texte imprimé et/ou numérique Auteurs : Olga PENAGARIKANO, Auteur ; Daniel H. GESCHWIND, Auteur Année de publication : 2013 Importance : p.274-285 Langues : Anglais (eng) Index. décimale : SCI-D SCI-D - Neurosciences Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=189 CNTNAP2 and autism spectrum disorders [Texte imprimé et/ou numérique] / Olga PENAGARIKANO, Auteur ; Daniel H. GESCHWIND, Auteur . - 2013 . - p.274-285.
Langues : Anglais (eng)
Index. décimale : SCI-D SCI-D - Neurosciences Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=189 Exemplaires
Code-barres Cote Support Localisation Section Disponibilité aucun exemplaire Commentary: Autism Genetics and Genomics: A Brief Overview and Synthesis / Daniel H. GESCHWIND
Titre : Commentary: Autism Genetics and Genomics: A Brief Overview and Synthesis Type de document : Texte imprimé et/ou numérique Auteurs : Daniel H. GESCHWIND, Auteur Année de publication : 2011 Importance : p.812-824 Langues : Anglais (eng) Index. décimale : AUT-B AUT-B - L'Autisme - Ouvrages généraux et scientifiques Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=139 Commentary: Autism Genetics and Genomics: A Brief Overview and Synthesis [Texte imprimé et/ou numérique] / Daniel H. GESCHWIND, Auteur . - 2011 . - p.812-824.
Langues : Anglais (eng)
Index. décimale : AUT-B AUT-B - L'Autisme - Ouvrages généraux et scientifiques Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=139 Exemplaires
Code-barres Cote Support Localisation Section Disponibilité aucun exemplaire Common genetic variants, acting additively, are a major source of risk for autism / Lambertus KLEI in Molecular Autism, (October 2012)
[article]
Titre : Common genetic variants, acting additively, are a major source of risk for autism Type de document : Texte imprimé et/ou numérique Auteurs : Lambertus KLEI, Auteur ; Stephan J. SANDERS, Auteur ; Michael T. MURTHA, Auteur ; Vanessa HUS, Auteur ; Jennifer K. LOWE, Auteur ; A. J. WILLSEY, Auteur ; Daniel MORENO DE LUCA, Auteur ; Timothy W. YU, Auteur ; Eric FOMBONNE, Auteur ; Daniel H. GESCHWIND, Auteur ; Dorothy E. GRICE, Auteur ; David H. LEDBETTER, Auteur ; Catherine LORD, Auteur ; Shrikant M. MANE, Auteur ; Christa L. MARTIN, Auteur ; Donna M. MARTIN, Auteur ; Eric M. MORROW, Auteur ; Christopher A. WALSH, Auteur ; Nadine M. MELHEM, Auteur ; Pauline CHASTE, Auteur ; James S. SUTCLIFFE, Auteur ; Matthew W. STATE, Auteur ; Edwin H. Jr COOK, Auteur ; Kathryn ROEDER, Auteur ; Bernie DEVLIN, Auteur Année de publication : 2012 Article en page(s) : 13 p. Langues : Anglais (eng) Mots-clés : Narrow-sense heritability Multiplex Simplex Quantitative genetics Index. décimale : PER Périodiques Résumé : Background
Autism spectrum disorders (ASD) are early onset neurodevelopmental syndromes typified by impairments in reciprocal social interaction and communication, accompanied by restricted and repetitive behaviors. While rare and especially de novo genetic variation are known to affect liability, whether common genetic polymorphism plays a substantial role is an open question and the relative contribution of genes and environment is contentious. It is probable that the relative contributions of rare and common variation, as well as environment, differs between ASD families having only a single affected individual (simplex) versus multiplex families who have two or more affected individuals.
Methods
By using quantitative genetics techniques and the contrast of ASD subjects to controls, we estimate what portion of liability can be explained by additive genetic effects, known as narrow-sense heritability. We evaluate relatives of ASD subjects using the same methods to evaluate the assumptions of the additive model and partition families by simplex/multiplex status to determine how heritability changes with status.
Results
By analyzing common variation throughout the genome, we show that common genetic polymorphism exerts substantial additive genetic effects on ASD liability and that simplex/multiplex family status has an impact on the identified composition of that risk. As a fraction of the total variation in liability, the estimated narrow-sense heritability exceeds 60% for ASD individuals from multiplex families and is approximately 40% for simplex families. By analyzing parents, unaffected siblings and alleles not transmitted from parents to their affected children, we conclude that the data for simplex ASD families follow the expectation for additive models closely. The data from multiplex families deviate somewhat from an additive model, possibly due to parental assortative mating.
Conclusions
Our results, when viewed in the context of results from genome-wide association studies, demonstrate that a myriad of common variants of very small effect impacts ASD liability.En ligne : http://dx.doi.org/10.1186/2040-2392-3-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=202
in Molecular Autism > (October 2012) . - 13 p.[article] Common genetic variants, acting additively, are a major source of risk for autism [Texte imprimé et/ou numérique] / Lambertus KLEI, Auteur ; Stephan J. SANDERS, Auteur ; Michael T. MURTHA, Auteur ; Vanessa HUS, Auteur ; Jennifer K. LOWE, Auteur ; A. J. WILLSEY, Auteur ; Daniel MORENO DE LUCA, Auteur ; Timothy W. YU, Auteur ; Eric FOMBONNE, Auteur ; Daniel H. GESCHWIND, Auteur ; Dorothy E. GRICE, Auteur ; David H. LEDBETTER, Auteur ; Catherine LORD, Auteur ; Shrikant M. MANE, Auteur ; Christa L. MARTIN, Auteur ; Donna M. MARTIN, Auteur ; Eric M. MORROW, Auteur ; Christopher A. WALSH, Auteur ; Nadine M. MELHEM, Auteur ; Pauline CHASTE, Auteur ; James S. SUTCLIFFE, Auteur ; Matthew W. STATE, Auteur ; Edwin H. Jr COOK, Auteur ; Kathryn ROEDER, Auteur ; Bernie DEVLIN, Auteur . - 2012 . - 13 p.
Langues : Anglais (eng)
in Molecular Autism > (October 2012) . - 13 p.
Mots-clés : Narrow-sense heritability Multiplex Simplex Quantitative genetics Index. décimale : PER Périodiques Résumé : Background
Autism spectrum disorders (ASD) are early onset neurodevelopmental syndromes typified by impairments in reciprocal social interaction and communication, accompanied by restricted and repetitive behaviors. While rare and especially de novo genetic variation are known to affect liability, whether common genetic polymorphism plays a substantial role is an open question and the relative contribution of genes and environment is contentious. It is probable that the relative contributions of rare and common variation, as well as environment, differs between ASD families having only a single affected individual (simplex) versus multiplex families who have two or more affected individuals.
Methods
By using quantitative genetics techniques and the contrast of ASD subjects to controls, we estimate what portion of liability can be explained by additive genetic effects, known as narrow-sense heritability. We evaluate relatives of ASD subjects using the same methods to evaluate the assumptions of the additive model and partition families by simplex/multiplex status to determine how heritability changes with status.
Results
By analyzing common variation throughout the genome, we show that common genetic polymorphism exerts substantial additive genetic effects on ASD liability and that simplex/multiplex family status has an impact on the identified composition of that risk. As a fraction of the total variation in liability, the estimated narrow-sense heritability exceeds 60% for ASD individuals from multiplex families and is approximately 40% for simplex families. By analyzing parents, unaffected siblings and alleles not transmitted from parents to their affected children, we conclude that the data for simplex ASD families follow the expectation for additive models closely. The data from multiplex families deviate somewhat from an additive model, possibly due to parental assortative mating.
Conclusions
Our results, when viewed in the context of results from genome-wide association studies, demonstrate that a myriad of common variants of very small effect impacts ASD liability.En ligne : http://dx.doi.org/10.1186/2040-2392-3-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=202 Recurrence rates provide evidence for sex-differential, familial genetic liability for autism spectrum disorders in multiplex families and twins / Donna M. WERLING in Molecular Autism, (May 2015)
[article]
Titre : Recurrence rates provide evidence for sex-differential, familial genetic liability for autism spectrum disorders in multiplex families and twins Type de document : Texte imprimé et/ou numérique Auteurs : Donna M. WERLING, Auteur ; Daniel H. GESCHWIND, Auteur Article en page(s) : p.1-14 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Autism spectrum disorders (ASDs) are more prevalent in males, suggesting a multiple threshold liability model in which females are, on average, protected by sex-differential mechanisms. Under this model, autistic females are predicted to carry a more penetrant risk variant load than males and to share this greater genetic liability with their siblings. However, reported ASD recurrence rates have not demonstrated significantly increased risk to siblings of affected girls. Here, we characterize recurrence patterns in multiplex families from the Autism Genetics Resource Exchange (AGRE) to determine if risk in these families follows a female protective model. En ligne : http://dx.doi.org/10.1186/s13229-015-0004-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=277
in Molecular Autism > (May 2015) . - p.1-14[article] Recurrence rates provide evidence for sex-differential, familial genetic liability for autism spectrum disorders in multiplex families and twins [Texte imprimé et/ou numérique] / Donna M. WERLING, Auteur ; Daniel H. GESCHWIND, Auteur . - p.1-14.
Langues : Anglais (eng)
in Molecular Autism > (May 2015) . - p.1-14
Index. décimale : PER Périodiques Résumé : Autism spectrum disorders (ASDs) are more prevalent in males, suggesting a multiple threshold liability model in which females are, on average, protected by sex-differential mechanisms. Under this model, autistic females are predicted to carry a more penetrant risk variant load than males and to share this greater genetic liability with their siblings. However, reported ASD recurrence rates have not demonstrated significantly increased risk to siblings of affected girls. Here, we characterize recurrence patterns in multiplex families from the Autism Genetics Resource Exchange (AGRE) to determine if risk in these families follows a female protective model. En ligne : http://dx.doi.org/10.1186/s13229-015-0004-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=277 Recurrent duplications of the annexin A1 gene (ANXA1) in autism spectrum disorders / Catarina T. CORREIA in Molecular Autism, (April 2014)
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