P Sklar

Summary

Affiliation: Massachusetts Institute of Technology
Country: USA

Publications

  1. ncbi request reprint Association analysis of NOTCH4 loci in schizophrenia using family and population-based controls
    P Sklar
    Department of Psychiatry, Massachusetts General Hospital, Boston, Massachusetts, USA
    Nat Genet 28:126-8. 2001
  2. ncbi request reprint Family-based association study of 76 candidate genes in bipolar disorder: BDNF is a potential risk locus. Brain-derived neutrophic factor
    P 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
  3. ncbi request reprint Genetic investigation of chromosome 5q GABAA receptor subunit genes in schizophrenia
    T 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
  4. ncbi request reprint Further evidence of association between two NET single-nucleotide polymorphisms with ADHD
    J 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
  5. pmc Population genetic study of the brain-derived neurotrophic factor (BDNF) gene
    T 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
  6. pmc Whole-genome association study of bipolar disorder
    P Sklar
    Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA 02114, USA
    Mol Psychiatry 13:558-69. 2008
  7. ncbi request reprint Support for involvement of neuregulin 1 in schizophrenia pathophysiology
    T L Petryshen
    Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA
    Mol Psychiatry 10:366-74, 328. 2005
  8. pmc Genomic survey of prepulse inhibition in mouse chromosome substitution strains
    M 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
  9. ncbi request reprint Large-scale discovery and genotyping of single-nucleotide polymorphisms in the mouse
    K Lindblad-Toh
    Whitehead Institute MIT Center for Genome Research, Whitehead Institute for Biomedical Research, Cambridge, MA, USA
    Nat Genet 24:381-6. 2000
  10. ncbi request reprint Characterization of single-nucleotide polymorphisms in coding regions of human genes
    M Cargill
    Whitehead Institute MIT Center for Genome Research, Cambridge, Massachusetts 02139, USA
    Nat Genet 22:231-8. 1999

Detail Information

Publications21

  1. ncbi request reprint Association analysis of NOTCH4 loci in schizophrenia using family and population-based controls
    P 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...
  2. ncbi request reprint Family-based association study of 76 candidate genes in bipolar disorder: BDNF is a potential risk locus. Brain-derived neutrophic factor
    P 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...
  3. ncbi request reprint Genetic investigation of chromosome 5q GABAA receptor subunit genes in schizophrenia
    T 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...
  4. ncbi request reprint Further evidence of association between two NET single-nucleotide polymorphisms with ADHD
    J 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...
  5. pmc Population genetic study of the brain-derived neurotrophic factor (BDNF) gene
    T 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...
  6. pmc Whole-genome association study of bipolar disorder
    P 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...
  7. ncbi request reprint Support for involvement of neuregulin 1 in schizophrenia pathophysiology
    T 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...
  8. pmc Genomic survey of prepulse inhibition in mouse chromosome substitution strains
    M 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...
  9. ncbi request reprint Large-scale discovery and genotyping of single-nucleotide polymorphisms in the mouse
    K 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...
  10. ncbi request reprint Characterization of single-nucleotide polymorphisms in coding regions of human genes
    M 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...
  11. pmc Cis-acting regulation of brain-specific ANK3 gene expression by a genetic variant associated with bipolar disorder
    E H Rueckert
    Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetics, Research, Massachusetts General Hospital, Boston, MA, USA
    Mol Psychiatry 18:922-9. 2013
    ..These findings suggest a brain-specific cis-regulatory transcriptional effect of ANK3 that may be relevant to BD pathophysiology...
  12. pmc Genome-wide association study in a Swedish population yields support for greater CNV and MHC involvement in schizophrenia compared with bipolar disorder
    S 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...
  13. ncbi request reprint Meta-analysis reveals association between serotonin transporter gene STin2 VNTR polymorphism and schizophrenia
    J 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
    ....
  14. ncbi request reprint Investigation of variation in SNAP-25 and ADHD and relationship to co-morbid major depressive disorder
    J 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...
  15. pmc Multi-locus genome-wide association analysis supports the role of glutamatergic synaptic transmission in the etiology of major depressive disorder
    P 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...
  16. pmc GWA study data mining and independent replication identify cardiomyopathy-associated 5 (CMYA5) as a risk gene for schizophrenia
    X 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...
  17. ncbi request reprint Genome-wide scan in Portuguese Island families identifies 5q31-5q35 as a susceptibility locus for schizophrenia and psychosis
    P 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..
  18. pmc 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 6q22
    F A Middleton
    Department of Neuroscience and Physiology, State University of New York SUNY, Syracuse, NY, USA
    Am J Hum Genet 74:886-97. 2004
    ....
  19. ncbi request reprint Trapping and sequence analysis of 1138 putative exons from human chromosome 18
    H 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...
  20. ncbi request reprint Genome-wide scan in Portuguese Island families implicates multiple loci in bipolar disorder: fine mapping adds support on chromosomes 6 and 11
    Carlos 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...
  21. ncbi request reprint Evidence for association of DNA sequence variants in the phosphatidylinositol-4-phosphate 5-kinase IIalpha gene (PIP5K2A) with schizophrenia
    S 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...