Research Topics
Genomes and GenesSpecies | P SklarSummaryAffiliation: Massachusetts Institute of Technology Country: USA Publications
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Detail Information
Publications
Association analysis of NOTCH4 loci in schizophrenia using family and population-based controlsP Sklar
Department of Psychiatry, Massachusetts General Hospital, Boston, Massachusetts, USA
Nat Genet 28:126-8. 2001..These data strongly suggest that NOTCH4 is not a significant susceptibility allele for schizophrenia...- Family-based association study of 76 candidate genes in bipolar disorder: BDNF is a potential risk locus. Brain-derived neutrophic factorP Sklar
Department of Psychiatry, Psychiatric and Neurodevelopmental Genetics Unit, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA
Mol Psychiatry 7:579-93. 2002..5 kb 3'. Therefore, this study of 76 candidate genes has identified BDNF as a potential risk allele that will require additional study to confirm... - Genetic investigation of chromosome 5q GABAA receptor subunit genes in schizophreniaT L Petryshen
Program in Medical and Population Genetics, Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, MA, USA
Mol Psychiatry 10:1074-88, 1057. 2005..Taken together, these results support the involvement of the chromosome 5q GABAA receptor gene cluster in schizophrenia, and suggest that schizophrenia-associated haplotypes may alter expression of GABA-related genes... - Further evidence of association between two NET single-nucleotide polymorphisms with ADHDJ W Kim
Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02114, USA
Mol Psychiatry 13:624-30. 2008..This is the first time that identical alleles of NET from different studies were implicated, and thus our report provides further evidence that the NET gene is involved in the etiology of ADHD... 
Population genetic study of the brain-derived neurotrophic factor (BDNF) geneT L Petryshen
Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA 02114, USA
Mol Psychiatry 15:810-5. 2010..These phenomena can have a profound impact on the detection of disease susceptibility genes and must be considered in gene association studies of BDNF...- Support for involvement of neuregulin 1 in schizophrenia pathophysiologyT L Petryshen
Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA
Mol Psychiatry 10:366-74, 328. 2005..In summary, our results suggest that haplotypes across NRG1 and multiple NRG1 variants are involved in schizophrenia... 
Genomic survey of prepulse inhibition in mouse chromosome substitution strainsM P Leussis
Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA, USA
Genes Brain Behav 8:806-16. 2009..Identification of genes that modulate PPI will provide insight into the neural mechanisms underlying sensorimotor gating, as well as the psychopathology of disorders characterized by gating deficits...- Whole-genome association study of bipolar disorderP Sklar
Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA 02114, USA
Mol Psychiatry 13:558-69. 2008..Given the heritability of BP disorder, the lack of agreement between studies emphasizes that susceptibility alleles are likely to be modest in effect size and require even larger samples for detection... - Large-scale discovery and genotyping of single-nucleotide polymorphisms in the mouseK Lindblad-Toh
Whitehead Institute MIT Center for Genome Research, Whitehead Institute for Biomedical Research, Cambridge, MA, USA
Nat Genet 24:381-6. 2000..We have also developed a multiplex genotyping procedure by which a genome scan can be performed with only six genotyping reactions per animal... - Characterization of single-nucleotide polymorphisms in coding regions of human genesM Cargill
Whitehead Institute MIT Center for Genome Research, Cambridge, Massachusetts 02139, USA
Nat Genet 22:231-8. 1999..The lower allele frequency of missense cSNPs has implications for the compilation of a comprehensive catalogue, as well as for the subsequent application to disease association... - Genome-wide association study in a Swedish population yields support for greater CNV and MHC involvement in schizophrenia compared with bipolar disorderS E Bergen
Psychiatric and Neurodevelopmental Genetics Unit, Massachusetts General Hospital, Boston, MA, USA
Mol Psychiatry 17:880-6. 2012..2 duplications (P=0.0035) and 22q11 deletions (P=0.03). These results reinforce prior reports of significant MHC and CNV associations in SCZ, but not BD... - Meta-analysis reveals association between serotonin transporter gene STin2 VNTR polymorphism and schizophreniaJ B Fan
Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetics Research, Massachusetts General Hospital, Charlestown, MA 02129, and Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA
Mol Psychiatry 10:928-38, 891. 2005.... - Investigation of variation in SNAP-25 and ADHD and relationship to co-morbid major depressive disorderJ W Kim
Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts 02114, USA
Am J Med Genet B Neuropsychiatr Genet 144:781-90. 2007..We further suggest that co-morbidity with MDD may enhance detection of the association between SNAP-25 and ADHD... - GWA study data mining and independent replication identify cardiomyopathy-associated 5 (CMYA5) as a risk gene for schizophreniaX Chen
Department of Psychiatry, Virginia Institute for Psychiatric and Behavioral Genetics, Virginia Commonwealth University, Richmond, VA 23298 0424, USA
Mol Psychiatry 16:1117-29. 2011..On the basis of these results, we concluded that CMYA5 is associated with schizophrenia and further investigation of the gene is warranted... - Multi-locus genome-wide association analysis supports the role of glutamatergic synaptic transmission in the etiology of major depressive disorderP H Lee
Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA, USA
Transl Psychiatry 2:e184. 2012..This result is consistent with previous studies that support a role of the glutamatergic system in synaptic plasticity and MDD and support the potential utility of targeting glutamatergic neurotransmission in the treatment of MDD... - Genome-wide scan in Portuguese Island families identifies 5q31-5q35 as a susceptibility locus for schizophrenia and psychosisP Sklar
Department of Psychiatry, Harvard Medical School, and Psychiatric and Neurodevelopmental Genetics Unit, Massachusetts General Hospital, Charlestown, MA 02129, USA
Mol Psychiatry 9:213-8. 2004..03, P=0.0012 at D5S820), suggesting that this locus may be responsible for the psychotic symptoms observed in both diseases. Molecular Psychiatry (2004) 9, 213-218. doi:10.1038/sj.mp.4001418 Published online 30 December 2003.. - Genomewide linkage analysis of bipolar disorder by use of a high-density single-nucleotide-polymorphism (SNP) genotyping assay: a comparison with microsatellite marker assays and finding of significant linkage to chromosome 6q22F A Middleton
Department of Neuroscience and Physiology, State University of New York (SUNY, Syracuse, NY, USA
Am J Hum Genet 74:886-97. 2004.... - Trapping and sequence analysis of 1138 putative exons from human chromosome 18H Chen
Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, MD 21278 7463, USA
Mol Psychiatry 8:619-23. 2003..On average, there were two exons for a matched transcript (known genes and ESTs). Therefore, the 850 novel exons may represent hundreds of novel genes on chromosome 18... - Genome-wide scan in Portuguese Island families implicates multiple loci in bipolar disorder: fine mapping adds support on chromosomes 6 and 11Carlos N Pato
Veterans Affairs Medical Center, Washington, DC 20422, USA
Am J Med Genet B Neuropsychiatr Genet 127:30-4. 2004..Our findings provide additional support for a susceptibility locus for bipolar disorder on 6q, as well as, suggesting the importance of denser scans. Published 2004 Wiley-Liss, Inc... - Evidence for association of DNA sequence variants in the phosphatidylinositol-4-phosphate 5-kinase IIalpha gene (PIP5K2A) with schizophreniaS G Schwab
Western Australian Institute of Medical Research and Center for Medical Research, University of Western Australia, Perth, WA, Australia
Mol Psychiatry 11:837-46. 2006..PI(4,5)P2 plays a role in membrane transduction of neurotransmitter signals as well as in intracellular signalling, pathways that may be impaired in schizophrenia...