Research Topics
Species | Susan L SantangeloSummaryAffiliation: Harvard University Country: USA Publications
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Publications
What is known about autism: genes, brain, and behaviorSusan L Santangelo
Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02129, USA
Am J Pharmacogenomics 5:71-92. 2005..The application of new techniques in autism research is being proposed, including the investigation of abnormal regulation of gene expression, proteomics, and the use of MRI and postmortem analysis of the brain...
A discordant sib-pair linkage analysis of age-related macular degenerationSusan L Santangelo
Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, 149 13th Street, Charlestown, MA, USA
Ophthalmic Genet 26:61-7. 2005..Our prior genome scan in 511 affected sib-pairs and other relative pairs identified significant or suggestive linkage signals on chromosomes 1, 2, 3, 6, 8, 10, 12, 16, and 22...
Fertility therapies, infertility and autism spectrum disorders in the Nurses' Health Study IIKristen Lyall
Department of Nutrition, Harvard School of Public Health, Boston, MA, USA
Paediatr Perinat Epidemiol 26:361-72. 2012..An increasing number of women are utilizing fertility treatments, but little is known about their relation to autism spectrum disorders (ASD)...
Pregnancy complications and obstetric suboptimality in association with autism spectrum disorders in children of the Nurses' Health Study IIKristen Lyall
Department of Epidemiology, Harvard School of Public Health, Boston, Massachusetts 02115, USA
Autism Res 5:21-30. 2012..Consistent with previous research, the general class of pregnancy complications was associated with ASD as a whole. Additional work will be required to more fully assess the role of gestational diabetes...
A genome-wide linkage and association scan reveals novel loci for autismLauren A Weiss
Center for Human Genetic Research, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts 02114, USA
Nature 461:802-8. 2009..The linkage regions reported here provide targets for rare variation screening whereas the discovery of a single novel association demonstrates the action of common variants...
A genomewide scan for age-related macular degeneration provides evidence for linkage to several chromosomal regionsJohanna M Seddon
Ophthalmology Epidemiology Unit, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MA 02114, USA
Am J Hum Genet 73:780-90. 2003..00001. The consistency of many of the other signals across both two-point and multipoint, as well as parametric and nonparametric, analyses indicate several other regions worthy of follow-up...
The genetics of age-related macular degeneration: a review of progress to dateStephen Haddad
Psychiatric and Neurodevelopmental Genetics Unit, Massachusetts General Hospital, Boston, 02114, USA
Surv Ophthalmol 51:316-63. 2006..Among these, apolipoprotein E (APOE) may be a minor risk locus. Additional genes will likely be identified, and future studies should explore the potential interactions of these genes with other genes as well as environmental factors...
Paternal age increases the risk for autism in an Iranian population sampleRoksana Sasanfar
Department of Psychiatry, Harvard Medical School, Boston, MA, USA
Mol Autism 1:2. 2010..Parental age has been shown to be associated with many disorders, such as schizophrenia, childhood cancer and fetal death. However, results from studies of parental age and autism are inconsistent...
Association between microdeletion and microduplication at 16p11.2 and autismLauren A Weiss
Autism Consortium, Boston, USA
N Engl J Med 358:667-75. 2008..Autism spectrum disorder is a heritable developmental disorder in which chromosomal abnormalities are thought to play a role...
Maternal early life factors associated with hormone levels and the risk of having a child with an autism spectrum disorder in the nurses health study IIKristen Lyall
Department of Epidemiology, Harvard School of Public Health, Boston, MA, USA
J Autism Dev Disord 41:618-27. 2011..54, 95% CI 1.18, 2.02, p = 0.0002) and BMI at age 18 of ≥30 (RR 2.03, 95% CI 1.34, 3.08, p = 0.0008) were significantly associated with increased risk of ASD. Further work should investigate the potential influence of these factors...
A QTL genome scan of the metabolic syndrome and its component traitsMatthew B McQueen
Department of Epidemiology, Harvard School of Public Health, Boston, Massachusetts, USA
BMC Genet 4:S96. 2003..We used genotype and phenotype data from the Framingham Heart Study to perform a full-genome scan for quantitative trait loci underlying the metabolic syndrome...
Autism and serotonin transporter gene polymorphisms: a systematic review and meta-analysisChristine H Huang
Department of Epidemiology, Harvard School of Public Health, Boston, Massachusetts, USA
Am J Med Genet B Neuropsychiatr Genet 147:903-13. 2008....
Brief report: no association between parental age and extreme social-communicative autistic traits in the general populationElise B Robinson
Department of Epidemiology, Harvard School of Public Health, Simches Research Building, Boston, MA 02114, USA
J Autism Dev Disord 41:1733-7. 2011..Neither maternal nor paternal age was associated with extreme scores. These findings suggest that advanced parental age does not confer increased risk for extreme social and communication impairment assessed quantitatively...
Common genetic variation in the GAD1 gene and the entire family of DLX homeobox genes and autism spectrum disordersShun Chiao Chang
Department of Epidemiology, Harvard School of Public Health, Boston, Massachusetts, USA
Am J Med Genet B Neuropsychiatr Genet 156:233-9. 2011..Our observations, when taken together with previous findings, suggest that common genetic variation in the GAD1 and DLX genes is unlikely to play a critical role in ASD susceptibility...
Examination of NRCAM, LRRN3, KIAA0716, and LAMB1 as autism candidate genesHolli B Hutcheson
Center for Human Genetics Research and Department of Molecular Physiology and Biophysics, Vanderbilt University Medical Center, Nashville, TN 37027, USA
BMC Med Genet 5:12. 2004....
Meta-analysis of genome scans of age-related macular degenerationSheila A Fisher
Department of Medical and Molecular Genetics, Guy s, King s and St Thomas School of Medicine, King s College London, London SE1 9RT, UK
Hum Mol Genet 14:2257-64. 2005..Several of the regions identified here showed only weak evidence for linkage in the individual studies. These results will help prioritize regions for future positional and functional candidate gene studies in AMD...
Intergenerational transmission of tobacco use and dependence: a transdisciplinary perspectiveEdmond D Shenassa
Brown Medical School, Centers for Behavioral and Preventive Medicine, Providence, RI 02903, USA
Nicotine Tob Res 5:S55-69. 2003..Research gaps that exist between scientific disciplines are highlighted, and some directions for future research are suggested...
