Accuracy of phenotyping children with autism based on parent report: what specifically do we gain phenotyping “rapidly”? / Zachary WARREN in Autism Research, 5-1 (February 2012)  

Public ISBD [article]  inAutism Research > 5-1 (February 2012) . - p.31-38 Titre : Accuracy of phenotyping children with autism based on parent report: what specifically do we gain phenotyping “rapidly”? Type de document : texte imprimé Auteurs : Zachary WARREN, Auteur ; Alison VEHORN, Auteur ; Elizabeth DOHRMANN, Auteur ; Amy NICHOLSON, Auteur ; James S. SUTCLIFFE, Auteur ; Jeremy VEENSTRA-VANDERWEELE, Auteur Année de publication : 2012 Article en page(s) : p.31-38 Langues : Anglais (eng) Mots-clés : Autism  ASD  genetic studies  rapid phenotyping Index. décimale : PER Périodiques Résumé : Autism spectrum disorder (ASD) is considered among the most heritable of all neurodevelopmental and psychiatric disorders, but identification of etiologically significant genetic markers and risk variants has been hampered by a lack of sufficiently large samples. Rapid phenotyping procedures, where self-report measures are used instead of extensive clinical assessment, have been proposed as methods for amassing large genetic databases due to their hypothesized time-efficiency and affordability. We assessed the diagnostic accuracy of potential rapid phenotyping procedures using the Social Communication Questionnaire and the Social Responsiveness Scale in a sample of 333 children who also received extensive phenotypic assessments. While the rapid phenotyping measures were able to accurately identify a large number of children with ASD, they also frequently failed to differentiate children with ASD from children with other complex neurobehavioral profiles. These data support the continued need of expert clinical validation in combination with rapid phenotyping procedures in order to accurately amass large-scale genetic collections of children with ASD. En ligne : http://dx.doi.org/10.1002/aur.230 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=153 [article] Accuracy of phenotyping children with autism based on parent report: what specifically do we gain phenotyping “rapidly”? [texte imprimé] / Zachary WARREN, Auteur ; Alison VEHORN, Auteur ; Elizabeth DOHRMANN, Auteur ; Amy NICHOLSON, Auteur ; James S. SUTCLIFFE, Auteur ; Jeremy VEENSTRA-VANDERWEELE, Auteur . - 2012 . - p.31-38. Langues : Anglais (eng) in Autism Research > 5-1 (February 2012) . - p.31-38 Mots-clés : Autism  ASD  genetic studies  rapid phenotyping Index. décimale : PER Périodiques Résumé : Autism spectrum disorder (ASD) is considered among the most heritable of all neurodevelopmental and psychiatric disorders, but identification of etiologically significant genetic markers and risk variants has been hampered by a lack of sufficiently large samples. Rapid phenotyping procedures, where self-report measures are used instead of extensive clinical assessment, have been proposed as methods for amassing large genetic databases due to their hypothesized time-efficiency and affordability. We assessed the diagnostic accuracy of potential rapid phenotyping procedures using the Social Communication Questionnaire and the Social Responsiveness Scale in a sample of 333 children who also received extensive phenotypic assessments. While the rapid phenotyping measures were able to accurately identify a large number of children with ASD, they also frequently failed to differentiate children with ASD from children with other complex neurobehavioral profiles. These data support the continued need of expert clinical validation in combination with rapid phenotyping procedures in order to accurately amass large-scale genetic collections of children with ASD. En ligne : http://dx.doi.org/10.1002/aur.230 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=153

Association of oxytocin receptor (OXTR) gene variants with multiple phenotype domains of autism spectrum disorder / Daniel B. CAMPBELL in Journal of Neurodevelopmental Disorders, 3-2 (June 2011)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 3-2 (June 2011) . - p.101-12 Titre : Association of oxytocin receptor (OXTR) gene variants with multiple phenotype domains of autism spectrum disorder Type de document : texte imprimé Auteurs : Daniel B. CAMPBELL, Auteur ; Dibyadeep DATTA, Auteur ; Shaine T. JONES, Auteur ; Evon BATEY LEE, Auteur ; James S. SUTCLIFFE, Auteur ; Elizabeth A.D. HAMMOCK, Auteur ; Pat LEVITT, Auteur Article en page(s) : p.101-12 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Autism spectrum disorder (ASD) is characterized by core deficits in social behavior, communication, and behavioral flexibility. Several lines of evidence indicate that oxytocin, signaling through its receptor (OXTR), is important in a wide range of social behaviors. In attempts to determine whether genetic variations in the oxytocin signaling system contribute to ASD susceptibility, seven recent reports indicated association of common genetic polymorphisms in the OXTR gene with ASD. Each involved relatively small sample sizes (57 to 436 families) and, where it was examined, failed to identify association of OXTR polymorphisms with measures of social behavior in individuals with ASD. We report genetic association analysis of 25 markers spanning the OXTR locus in 1,238 pedigrees including 2,333 individuals with ASD. Association of three markers previously implicated in ASD susceptibility, rs2268493 (P = 0.043), rs1042778 (P = 0.037), and rs7632287 (P = 0.016), was observed. Further, these genetic markers were associated with multiple core ASD phenotypes, including social domain dysfunction, measured by standardized instruments used to diagnose and describe ASD. The data suggest association of OXTR genetic polymorphisms with ASD, although the results should be interpreted with caution because none of the significant associations would survive appropriate correction for multiple comparisons. However, the current findings of association in a large independent cohort are consistent with previous results, and the biological plausibility of participation of the oxytocin signaling system in modulating social disruptions characteristic of ASD, suggest that functional polymorphisms of OXTR may contribute to ASD risk in a subset of families. En ligne : http://dx.doi.org/10.1007/s11689-010-9071-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=343 [article] Association of oxytocin receptor (OXTR) gene variants with multiple phenotype domains of autism spectrum disorder [texte imprimé] / Daniel B. CAMPBELL, Auteur ; Dibyadeep DATTA, Auteur ; Shaine T. JONES, Auteur ; Evon BATEY LEE, Auteur ; James S. SUTCLIFFE, Auteur ; Elizabeth A.D. HAMMOCK, Auteur ; Pat LEVITT, Auteur . - p.101-12. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 3-2 (June 2011) . - p.101-12 Index. décimale : PER Périodiques Résumé : Autism spectrum disorder (ASD) is characterized by core deficits in social behavior, communication, and behavioral flexibility. Several lines of evidence indicate that oxytocin, signaling through its receptor (OXTR), is important in a wide range of social behaviors. In attempts to determine whether genetic variations in the oxytocin signaling system contribute to ASD susceptibility, seven recent reports indicated association of common genetic polymorphisms in the OXTR gene with ASD. Each involved relatively small sample sizes (57 to 436 families) and, where it was examined, failed to identify association of OXTR polymorphisms with measures of social behavior in individuals with ASD. We report genetic association analysis of 25 markers spanning the OXTR locus in 1,238 pedigrees including 2,333 individuals with ASD. Association of three markers previously implicated in ASD susceptibility, rs2268493 (P = 0.043), rs1042778 (P = 0.037), and rs7632287 (P = 0.016), was observed. Further, these genetic markers were associated with multiple core ASD phenotypes, including social domain dysfunction, measured by standardized instruments used to diagnose and describe ASD. The data suggest association of OXTR genetic polymorphisms with ASD, although the results should be interpreted with caution because none of the significant associations would survive appropriate correction for multiple comparisons. However, the current findings of association in a large independent cohort are consistent with previous results, and the biological plausibility of participation of the oxytocin signaling system in modulating social disruptions characteristic of ASD, suggest that functional polymorphisms of OXTR may contribute to ASD risk in a subset of families. En ligne : http://dx.doi.org/10.1007/s11689-010-9071-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=343

Calculating genetic risk for dysfunction in pleiotropic biological processes using whole exome sequencing data / Olivia J. VEATCH in Journal of Neurodevelopmental Disorders, 14 (2022)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 14 (2022) Titre : Calculating genetic risk for dysfunction in pleiotropic biological processes using whole exome sequencing data Type de document : texte imprimé Auteurs : Olivia J. VEATCH, Auteur ; Diego R. MAZZOTTI, Auteur ; Robert T. SCHULTZ, Auteur ; Ted ABEL, Auteur ; Jacob J. MICHAELSON, Auteur ; Edward S. BRODKIN, Auteur ; Birkan TUNC, Auteur ; Susan G. ASSOULINE, Auteur ; Thomas NICKL-JOCKSCHAT, Auteur ; Beth A. MALOW, Auteur ; James S. SUTCLIFFE, Auteur ; Allan I. PACK, Auteur Langues : Anglais (eng) Mots-clés : Adolescent  Autism Spectrum Disorder/complications/genetics  Biological Phenomena  Child  Exome/genetics  Humans  Sleep Wake Disorders/complications/genetics  Exome Sequencing  Autism spectrum disorders  Genetic risk scores  Pleiotropy  Sleep duration  Systems biology Index. décimale : PER Périodiques Résumé : BACKGROUND: Numerous genes are implicated in autism spectrum disorder (ASD). ASD encompasses a wide-range and severity of symptoms and co-occurring conditions; however, the details of how genetic variation contributes to phenotypic differences are unclear. This creates a challenge for translating genetic evidence into clinically useful knowledge. Sleep disturbances are particularly prevalent co-occurring conditions in ASD, and genetics may inform treatment. Identifying convergent mechanisms with evidence for dysfunction that connect ASD and sleep biology could help identify better treatments for sleep disturbances in these individuals. METHODS: To identify mechanisms that influence risk for ASD and co-occurring sleep disturbances, we analyzed whole exome sequence data from individuals in the Simons Simplex Collection (n = 2380). We predicted protein damaging variants (PDVs) in genes currently implicated in either ASD or sleep duration in typically developing children. We predicted a network of ASD-related proteins with direct evidence for interaction with sleep duration-related proteins encoded by genes with PDVs. Overrepresentation analyses of Gene Ontology-defined biological processes were conducted on the resulting gene set. We calculated the likelihood of dysfunction in the top overrepresented biological process. We then tested if scores reflecting genetic dysfunction in the process were associated with parent-reported sleep duration. RESULTS: There were 29 genes with PDVs in the ASD dataset where variation was reported in the literature to be associated with both ASD and sleep duration. A network of 108 proteins encoded by ASD and sleep duration candidate genes with PDVs was identified. The mechanism overrepresented in PDV-containing genes that encode proteins in the interaction network with the most evidence for dysfunction was cerebral cortex development (GO:0,021,987). Scores reflecting dysfunction in this process were associated with sleep durations; the largest effects were observed in adolescents (p = 4.65 × 10(-3)). CONCLUSIONS: Our bioinformatic-driven approach detected a biological process enriched for genes encoding a protein-protein interaction network linking ASD gene products with sleep duration gene products where accumulation of potentially damaging variants in individuals with ASD was associated with sleep duration as reported by the parents. Specifically, genetic dysfunction impacting development of the cerebral cortex may affect sleep by disrupting sleep homeostasis which is evidenced to be regulated by this brain region. Future functional assessments and objective measurements of sleep in adolescents with ASD could provide the basis for more informed treatment of sleep problems in these individuals. En ligne : https://dx.doi.org/10.1186/s11689-022-09448-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574 [article] Calculating genetic risk for dysfunction in pleiotropic biological processes using whole exome sequencing data [texte imprimé] / Olivia J. VEATCH, Auteur ; Diego R. MAZZOTTI, Auteur ; Robert T. SCHULTZ, Auteur ; Ted ABEL, Auteur ; Jacob J. MICHAELSON, Auteur ; Edward S. BRODKIN, Auteur ; Birkan TUNC, Auteur ; Susan G. ASSOULINE, Auteur ; Thomas NICKL-JOCKSCHAT, Auteur ; Beth A. MALOW, Auteur ; James S. SUTCLIFFE, Auteur ; Allan I. PACK, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 14 (2022) Mots-clés : Adolescent  Autism Spectrum Disorder/complications/genetics  Biological Phenomena  Child  Exome/genetics  Humans  Sleep Wake Disorders/complications/genetics  Exome Sequencing  Autism spectrum disorders  Genetic risk scores  Pleiotropy  Sleep duration  Systems biology Index. décimale : PER Périodiques Résumé : BACKGROUND: Numerous genes are implicated in autism spectrum disorder (ASD). ASD encompasses a wide-range and severity of symptoms and co-occurring conditions; however, the details of how genetic variation contributes to phenotypic differences are unclear. This creates a challenge for translating genetic evidence into clinically useful knowledge. Sleep disturbances are particularly prevalent co-occurring conditions in ASD, and genetics may inform treatment. Identifying convergent mechanisms with evidence for dysfunction that connect ASD and sleep biology could help identify better treatments for sleep disturbances in these individuals. METHODS: To identify mechanisms that influence risk for ASD and co-occurring sleep disturbances, we analyzed whole exome sequence data from individuals in the Simons Simplex Collection (n = 2380). We predicted protein damaging variants (PDVs) in genes currently implicated in either ASD or sleep duration in typically developing children. We predicted a network of ASD-related proteins with direct evidence for interaction with sleep duration-related proteins encoded by genes with PDVs. Overrepresentation analyses of Gene Ontology-defined biological processes were conducted on the resulting gene set. We calculated the likelihood of dysfunction in the top overrepresented biological process. We then tested if scores reflecting genetic dysfunction in the process were associated with parent-reported sleep duration. RESULTS: There were 29 genes with PDVs in the ASD dataset where variation was reported in the literature to be associated with both ASD and sleep duration. A network of 108 proteins encoded by ASD and sleep duration candidate genes with PDVs was identified. The mechanism overrepresented in PDV-containing genes that encode proteins in the interaction network with the most evidence for dysfunction was cerebral cortex development (GO:0,021,987). Scores reflecting dysfunction in this process were associated with sleep durations; the largest effects were observed in adolescents (p = 4.65 × 10(-3)). CONCLUSIONS: Our bioinformatic-driven approach detected a biological process enriched for genes encoding a protein-protein interaction network linking ASD gene products with sleep duration gene products where accumulation of potentially damaging variants in individuals with ASD was associated with sleep duration as reported by the parents. Specifically, genetic dysfunction impacting development of the cerebral cortex may affect sleep by disrupting sleep homeostasis which is evidenced to be regulated by this brain region. Future functional assessments and objective measurements of sleep in adolescents with ASD could provide the basis for more informed treatment of sleep problems in these individuals. En ligne : https://dx.doi.org/10.1186/s11689-022-09448-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574

Common genetic variants, acting additively, are a major source of risk for autism / Lambertus KLEI in Molecular Autism, (October 2012)  

Public ISBD [article]  inMolecular Autism > (October 2012) . - 13 p. Titre : Common genetic variants, acting additively, are a major source of risk for autism Type de document : texte imprimé Auteurs : Lambertus KLEI, Auteur ; Stephan J. SANDERS, Auteur ; Michael T. MURTHA, Auteur ; Vanessa HUS, Auteur ; Jennifer K. LOWE, Auteur ; A. Jeremy 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 Lese 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 [article] Common genetic variants, acting additively, are a major source of risk for autism [texte imprimé] / Lambertus KLEI, Auteur ; Stephan J. SANDERS, Auteur ; Michael T. MURTHA, Auteur ; Vanessa HUS, Auteur ; Jennifer K. LOWE, Auteur ; A. Jeremy 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 Lese 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

Erratum: Accuracy of Phenotyping Children With Autism Based on Parent Report: What Specifically Do We Gain Phenotyping “Rapidly”? / Zachary WARREN in Autism Research, 5-2 (April 2012)  

Public ISBD [article]  inAutism Research > 5-2 (April 2012) . - p.151 Titre : Erratum: Accuracy of Phenotyping Children With Autism Based on Parent Report: What Specifically Do We Gain Phenotyping “Rapidly”? Type de document : texte imprimé Auteurs : Zachary WARREN, Auteur ; Alison VEHORN, Auteur ; Elizabeth DOHRMANN, Auteur ; Amy NICHOLSON, Auteur ; James S. SUTCLIFFE, Auteur ; Jeremy VEENSTRA-VANDERWEELE, Auteur Année de publication : 2012 Article en page(s) : p.151 Langues : Anglais (eng) Index. décimale : PER Périodiques En ligne : http://dx.doi.org/10.1002/aur.1228 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=155 [article] Erratum: Accuracy of Phenotyping Children With Autism Based on Parent Report: What Specifically Do We Gain Phenotyping “Rapidly”? [texte imprimé] / Zachary WARREN, Auteur ; Alison VEHORN, Auteur ; Elizabeth DOHRMANN, Auteur ; Amy NICHOLSON, Auteur ; James S. SUTCLIFFE, Auteur ; Jeremy VEENSTRA-VANDERWEELE, Auteur . - 2012 . - p.151. Langues : Anglais (eng) in Autism Research > 5-2 (April 2012) . - p.151 Index. décimale : PER Périodiques En ligne : http://dx.doi.org/10.1002/aur.1228 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=155

Examining the latent structure and correlates of sensory reactivity in autism: a multi-site integrative data analysis by the autism sensory research consortium / Roseann C. SCHAAF ; Karla K. AUSDERAU ; Grace T. BARANEK ; D. Jonah BARRETT ; Carissa J. CASCIO ; Rachel L. DUMONT ; Ekomobong E. EYOH ; Michelle D. FAILLA ; Jacob I. FELDMAN ; Jennifer H. FOSS-FEIG ; Heather L. GREEN ; Shulamite A. GREEN ; Jason L. HE ; Elizabeth A. KAPLAN-KAHN ; Bahar KEÇELI-KAYSILI ; Keren MACLENNAN ; Zoe MAILLOUX ; Elysa J. MARCO ; Lisa E. MASH ; Elizabeth P. MCKERNAN ; Sophie MOLHOLM ; Stewart H. MOSTOFSKY ; Nicolaas A.J. PUTS ; Caroline E. ROBERTSON ; Natalie RUSSO ; Nicole SHEA ; John SIDERIS ; James S. SUTCLIFFE ; Teresa TAVASSOLI ; Mark T. WALLACE ; Ericka L. WODKA ; Tiffany G. WOYNAROSKI in Molecular Autism, 14 (2023)  

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Genetic background modulates phenotypes of serotonin transporter Ala56 knock-in mice / Travis KERR in Molecular Autism, (October 2013)  

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Genetic evidence implicating multiple genes in the MET receptor tyrosine kinase pathway in autism spectrum disorder / Daniel B. CAMPBELL in Autism Research, 1-3 (June 2008)  

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Heterogeneity and the design of genetic studies in autism / James S. SUTCLIFFE in Autism Research, 1-4 (August 2008)  

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Is there sexual dimorphism of hyperserotonemia in autism spectrum disorder? / Lauren C. SHUFFREY in Autism Research, 10-8 (August 2017)  

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Leveraging blood serotonin as an endophenotype to identify de novo and rare variants involved in autism / Rui CHEN in Molecular Autism, 8 (2017)  

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Loci nominally associated with autism from genome-wide analysis show enrichment of brain expression quantitative trait loci but not lymphoblastoid cell line expression quantitative trait loci / Lea K. DAVIS in Molecular Autism, (May 2012)  

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Modeling rare gene variation to gain insight into the oldest biomarker in autism: construction of the serotonin transporter Gly56Ala knock-in mouse / Jeremy VEENSTRA-VANDERWEELE in Journal of Neurodevelopmental Disorders, 1-2 (June 2009)  

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Modest Impact on Risk for Autism Spectrum Disorder of Rare Copy Number Variants at 15q11.2, Specifically Breakpoints 1 to 2 / Pauline CHASTE in Autism Research, 7-3 (June 2014)  

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Novel method for combined linkage and genome-wide association analysis finds evidence of distinct genetic architecture for two subtypes of autism / Veronica J. VIELAND in Journal of Neurodevelopmental Disorders, 3-2 (June 2011)  

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