Genomes and Genes
Michael L Cuccaro
Affiliation: Duke University Medical Center
- Analysis of the autism chromosome 2 linkage region: GAD1 and other candidate genesRaquel Rabionet
Department of Medicine, Center for Human Genetics, 595 LaSalle St, Box 3445, Duke University Medical Center, Durham, NC 27710, USA
Neurosci Lett 372:209-14. 2004....
- Investigation of autism and GABA receptor subunit genes in multiple ethnic groupsAnn L Collins
Center for Human Genetics, Duke University Medical Center, Durham, NC, USA
Neurogenetics 7:167-74. 2006..0253). These results confirmed our earlier findings, indicating GABRA4 and GABRB1 as genes contributing to autism susceptibility, extending the effect to multiple ethnic groups and suggesting seizures as a stratifying phenotype...
- Mapping autism risk loci using genetic linkage and chromosomal rearrangementsPeter Szatmari
Department of Psychiatry and Behavioural Neurosciences, McMaster University, Hamilton, Ontario L8N 3Z5, Canada
Nat Genet 39:319-28. 2007..Neurexins team with previously implicated neuroligins for glutamatergic synaptogenesis, highlighting glutamate-related genes as promising candidates for contributing to ASDs...
- A comparison of repetitive behaviors in Aspergers Disorder and high functioning autismMichael L Cuccaro
Duke University Medical Center, Durham, NC, USA
Child Psychiatry Hum Dev 37:347-60. 2007..These findings add to the body of literature showing that HFA and ASP fail to differ with respect to repetitive behaviors. The implications of the findings for neurobiologic and genetic studies are discussed...
- Factor analysis of restricted and repetitive behaviors in autism using the Autism Diagnostic Interview-RMichael L Cuccaro
Center for Human Genetics, Duke University Medical Center, Durham, NC 27710, USA
Child Psychiatry Hum Dev 34:3-17. 2003..Defining subgroups within autism will allow for reduction of clinical heterogeneity and enhance our ability to dissect the genetic etiology of this complex disorder...
- Lack of association between autism and SLC25A12Raquel Rabionet
Center for Human Genetics, Department of Medicine, Duke University Medical Center, 595 LaSalle St, Durham, NC 27710, USA
Am J Psychiatry 163:929-31. 2006..This study aimed to test for association in SLC25A12 in an independent data set of 327 families with autistic offspring...
- Phenotypic homogeneity provides increased support for linkage on chromosome 2 in autistic disorderYujun Shao
Center for Human Genetics, CARL Building, Duke University Medical Center, Durham, NC 27710, USA
Am J Hum Genet 70:1058-61. 2002..86 and HLOD 2.12 for marker D2S116). These data support evidence for a gene on chromosome 2 contributing to risk of AutD, and they suggest that phenotypic homogeneity increases the power to find susceptibility genes for AutD...
- Autism in African American families: clinical-phenotypic findingsMichael L Cuccaro
Duke University Medical Center, Durham, NC, USA
Am J Med Genet B Neuropsychiatr Genet 144:1022-6. 2007..Such considerations will aid greatly in the search for genetic variants in autism...
- Factor analysis of the aberrant behavior checklist in individuals with autism spectrum disordersJason Brinkley
Center for Human Genetics, Duke University Medical Center, DUMC Box 3445, Durham, NC 27710, USA
J Autism Dev Disord 37:1949-59. 2007..The emergence of a self-injury factor, while not suggestive of a new subscale, warrants further exploration as a tool that could help dissect relevant neurobiobehavioral groups in ASD...
- No association between the WNT2 gene and autistic disorderPinky A McCoy
Department of Medicine, Duke University Medical Center, Durham, North Carolina 27710, USA
Am J Med Genet 114:106-9. 2002..We did not identify any activating mutation in the coding region of the WNT2 gene. Thus, we conclude that activating mutations of the WNT2 gene are not a major contributor to the development of autistic disorder in these data...
- Accelerated head growth in early development of individuals with autismYulia A Dementieva
Department of Medicine and Center for Human Genetics, Duke University Medical Center, Durham, NC 27710, USA
Pediatr Neurol 32:102-8. 2005..This study confirms the presence of abnormal acceleration in head growth during the first and second months of life in a subgroup of autistic individuals...
- Investigation of potential gene-gene interactions between APOE and RELN contributing to autism riskAllison E Ashley-Koch
Center for Human Genetics, Department of Medicine, Duke University Medical Center, Snyderman Genomic Sciences Building, Durham, NC 27710, USA
Psychiatr Genet 17:221-6. 2007..RELN shares a common biological pathway with APOE, and Persico et al. have observed transmission distortion of the APOE-2 allele in autism families...
- Identification of MeCP2 mutations in a series of females with autistic disorderRegina M Carney
Department of Medicine and the Center for Human Genetics, Duke University Medical Center, Durham, North Carolina 27710, USA
Pediatr Neurol 28:205-11. 2003..These data provide additional evidence of variable expression in the Rett disorder phenotype and suggest MeCP2 testing may be warranted for females presenting with autistic disorder...
- Genomic screen and follow-up analysis for autistic disorderYujun Shao
Department of Medicine and Center for Human Genetics, Duke University Medical Center, Durham, North Carolina 27710, USA
Am J Med Genet 114:99-105. 2002..0) in stage two analysis. The peak lod score regions on chromosomes 2, 7, 15, 19, and X overlap previously reported peak linkage areas. The region on chromosome 3 is unique...
- Ordered-subset analysis of savant skills in autism for 15q11-q13D Q Ma
Center for Human Genetics, Duke University Medical Center, Durham, North Carolina 27710, USA
Am J Med Genet B Neuropsychiatr Genet 135:38-41. 2005..In addition, ordered subset analysis (OSA) using SSF as a covariate also failed to show evidence for linkage. Our findings do not support savant skills as an informative phenotypic subset for linkage in our sample...
- Behavioral comparisons in autistic individuals from multiplex and singleton familiesMichael L Cuccaro
W S Hall Psychiatric Institute, Department of Neuropsychiatry, University of South Carolina, Columbia, South Carolina, USA
J Autism Dev Disord 33:87-91. 2003..These results suggests the possibility that common etiologic mechanisms, either genetic and/or environmental, could underlie all of AD...
- Genomic and epigenetic evidence for oxytocin receptor deficiency in autismSimon G Gregory
Duke Center for Human Genetics, DUMC, Durham, NC, USA
BMC Med 7:62. 2009..Although numerous approaches have been used to identify genes implicated in the development of autism, less than 10% of autism cases have been attributed to single gene disorders...
- Repetitive behaviors in autism: relationships with associated clinical featuresRobin L Gabriels
Department of Psychiatry, University of Colorado Health Sciences Center, Denver, CO, USA
Res Dev Disabil 26:169-81. 2005..The relationship between RBs and associated clinical features in autism is complex and future studies should control for cognitive ability when examining the direct and indirect relationships of these variables with RBs...