Pamela Sklar

Summary

Affiliation: Harvard University
Country: USA

Publications

  1. ncbi request reprint Linkage analysis in psychiatric disorders: the emerging picture
    Pamela Sklar
    Department of Psychiatry, Harvard Medical School, Massachusetts General Hospital and Whitehead Institute Center for Genome Research, Cambridge, Massachusetts 02139, USA
    Annu Rev Genomics Hum Genet 3:371-413. 2002
  2. 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
  3. ncbi request reprint Principles of haplotype mapping and potential applications to attention-deficit/hyperactivity disorder
    Pamela Sklar
    Harvard Medical School, Department of Psychiatry, and the Psychiatric and Neurodevelopmental Genetics Unit, Massachusetts General Hospital, Charlestown, Massachusetts 02129, USA
    Biol Psychiatry 57:1357-66. 2005
  4. doi request reprint Cross-disorder genomewide analysis of schizophrenia, bipolar disorder, and depression
    Jie Huang
    Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetic Research, and Psychiatric Genetics Program in Mood and Anxiety Disorders, Department of Psychiatry, Massachusetts General Hospital, Boston, MA 02114, USA
    Am J Psychiatry 167:1254-63. 2010
  5. pmc Evidence for genetic association of RORB with bipolar disorder
    Casey L McGrath
    Department of Psychiatry, Laboratory of Neurophenomics, Indiana University School of Medicine, Indianapolis, IN, USA
    BMC Psychiatry 9:70. 2009
  6. ncbi request reprint Investigation of parent-of-origin effects in ADHD candidate genes
    Jang Woo 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 144:776-80. 2007
  7. doi request reprint Family-based association study of lithium-related and other candidate genes in bipolar disorder
    Roy H Perlis
    Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, 185 Cambridge St, Boston, MA 02114, USA
    Arch Gen Psychiatry 65:53-61. 2008
  8. pmc Analysis of high-resolution HapMap of DTNBP1 (Dysbindin) suggests no consistency between reported common variant associations and schizophrenia
    Mousumi Mutsuddi
    Psychiatric Disease Initiative, Broad Institute of Massachusetts Institute of Technology and Harvard University, Cambridge, MA, USA
    Am J Hum Genet 79:903-9. 2006
  9. doi request reprint A genomewide association study of response to lithium for prevention of recurrence in bipolar disorder
    Roy H Perlis
    Department of Psychiatry, Massachusetts General Hospital, Boston, MA, USA
    Am J Psychiatry 166:718-25. 2009
  10. ncbi request reprint Genetics of bipolar disorder: focus on BDNF Val66Met polymorphism
    Jinbo Fan
    Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetics Research, Massachusetts General Hospital, 185 Cambridge Street, Boston, MA 02114, USA
    Novartis Found Symp 289:60-72; discussion 72-3, 87-93. 2008

Detail Information

Publications33

  1. ncbi request reprint Linkage analysis in psychiatric disorders: the emerging picture
    Pamela Sklar
    Department of Psychiatry, Harvard Medical School, Massachusetts General Hospital and Whitehead Institute Center for Genome Research, Cambridge, Massachusetts 02139, USA
    Annu Rev Genomics Hum Genet 3:371-413. 2002
    ..The sequencing of the human genome and identification of numerous single nucleotide polymorphisms (SNP) should substantially enhance the ability of investigators to identify disease-causing genes in these areas of the genome...
  2. 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..
  3. ncbi request reprint Principles of haplotype mapping and potential applications to attention-deficit/hyperactivity disorder
    Pamela Sklar
    Harvard Medical School, Department of Psychiatry, and the Psychiatric and Neurodevelopmental Genetics Unit, Massachusetts General Hospital, Charlestown, Massachusetts 02129, USA
    Biol Psychiatry 57:1357-66. 2005
    ..Coupling this with larger patient collections and more refined phenotyping will move forward the identification of disease-associated polymorphisms and ultimately the development of genetically based pharmaceuticals and diagnostic tests...
  4. doi request reprint Cross-disorder genomewide analysis of schizophrenia, bipolar disorder, and depression
    Jie Huang
    Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetic Research, and Psychiatric Genetics Program in Mood and Anxiety Disorders, Department of Psychiatry, Massachusetts General Hospital, Boston, MA 02114, USA
    Am J Psychiatry 167:1254-63. 2010
    ..The purpose of this study was to apply genomewide association study (GWAS) analysis to address the specificity of genetic effects on these disorders...
  5. pmc Evidence for genetic association of RORB with bipolar disorder
    Casey L McGrath
    Department of Psychiatry, Laboratory of Neurophenomics, Indiana University School of Medicine, Indianapolis, IN, USA
    BMC Psychiatry 9:70. 2009
    ..Here we report association studies between bipolar disorder and single-nucleotide polymorphisms (SNPs) in RORA and RORB...
  6. ncbi request reprint Investigation of parent-of-origin effects in ADHD candidate genes
    Jang Woo 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 144:776-80. 2007
    ..Thus, we conclude that a substantial parent-of-origin effect is unlikely for these leading ADHD candidate genes...
  7. doi request reprint Family-based association study of lithium-related and other candidate genes in bipolar disorder
    Roy H Perlis
    Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, 185 Cambridge St, Boston, MA 02114, USA
    Arch Gen Psychiatry 65:53-61. 2008
    ..Recent developments suggest that a broader pool of genes may be associated with this disorder...
  8. pmc Analysis of high-resolution HapMap of DTNBP1 (Dysbindin) suggests no consistency between reported common variant associations and schizophrenia
    Mousumi Mutsuddi
    Psychiatric Disease Initiative, Broad Institute of Massachusetts Institute of Technology and Harvard University, Cambridge, MA, USA
    Am J Hum Genet 79:903-9. 2006
    ..Evidence of association is, at present, equivocal and unsatisfactory. The new dense map of the region may be valuable in more-comprehensive follow-up studies...
  9. doi request reprint A genomewide association study of response to lithium for prevention of recurrence in bipolar disorder
    Roy H Perlis
    Department of Psychiatry, Massachusetts General Hospital, Boston, MA, USA
    Am J Psychiatry 166:718-25. 2009
    ....
  10. ncbi request reprint Genetics of bipolar disorder: focus on BDNF Val66Met polymorphism
    Jinbo Fan
    Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetics Research, Massachusetts General Hospital, 185 Cambridge Street, Boston, MA 02114, USA
    Novartis Found Symp 289:60-72; discussion 72-3, 87-93. 2008
    ..Further large-scale studies are warranted to elucidate the relevant BDNF gene variation(s) that act as risk factors for bipolar disorder susceptibility...
  11. ncbi request reprint Association between the 5HT1B receptor gene (HTR1B) and the inattentive subtype of ADHD
    Jordan W Smoller
    Department of Psychiatry, Massachusetts General Hospital, Boston, Massachusetts 02114, USA
    Biol Psychiatry 59:460-7. 2006
    ..Association with a single nucleotide polymorphism (SNP; G861C) has been observed, but more extensive linkage disequilibrium analyses have not been reported...
  12. ncbi request reprint Identification of EFHC2 as a quantitative trait locus for fear recognition in Turner syndrome
    Lauren A Weiss
    Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02114, USA
    Hum Mol Genet 16:107-13. 2007
    ..EFHC2 shows genealogy and extended LD consistent with directional selection. This novel QTL may influence social cognition in the general population and in autism...
  13. pmc Confirmation of prior evidence of genetic susceptibility to alcoholism in a genome-wide association study of comorbid alcoholism and bipolar disorder
    Gregory John Lydall
    Department of Mental Health Sciences, University College London, Molecular Psychiatry Laboratory, Harvard Medical School, Boston, Massachusetts, USA
    Psychiatr Genet 21:294-306. 2011
    ..Alcoholism and affective disorders are both strongly comorbid and heritable. We have investigated the genetic comorbidity between bipolar affective disorder and alcoholism...
  14. doi request reprint Modifiers and subtype-specific analyses in whole-genome association studies: a likelihood framework
    Phil H Lee
    Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetic Research, Department of Psychiatry, Harvard Medical School, Boston, Mass, USA
    Hum Hered 72:10-20. 2011
    ..The primary utility of our work is the ability to distinguish between subtype-specific and modifier effects of genetic variants within a single testing framework...
  15. pmc Association study of 21 circadian genes with bipolar I disorder, schizoaffective disorder, and schizophrenia
    Hader A Mansour
    Department of Psychiatry, University of Pittsburgh School of Medicine, Western Psychiatric Institute and Clinic, Pittsburgh, PA 15213, USA
    Bipolar Disord 11:701-10. 2009
    ..The results are plausible, based on prior studies of circadian abnormalities. As replications have not been attempted uniformly, we evaluated representative, common polymorphisms in all three disorders...
  16. pmc Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder
    Manuel A R Ferreira
    Department of Psychiatry, Massachusetts General Hospital, Boston, Massachusetts 02114, USA
    Nat Genet 40:1056-8. 2008
    ..0 x 10(-8), rs1006737). Our results suggest that ion channelopathies may be involved in the pathogenesis of bipolar disorder...
  17. pmc Absence of association with DAT1 polymorphism and response to methylphenidate in a sample of adults with ADHD
    Eric Mick
    Department of Psychiatry, Harvard Medical School, Massachusetts General Hospital, Boston, Massachusetts 02114, USA
    Am J Med Genet B Neuropsychiatr Genet 141:890-4. 2006
    ..We failed to identify an association with DAT1 and the response or tolerability of methylphenidate in adults with ADHD...
  18. pmc Combined analysis from eleven linkage studies of bipolar disorder provides strong evidence of susceptibility loci on chromosomes 6q and 8q
    Matthew B McQueen
    Harvard School of Public Health, Department of Epidemiology, Boston, MA 02115, USA
    Am J Hum Genet 77:582-95. 2005
    ..Our results establish genomewide significant linkage to BP on chromosomes 6q and 8q, which provides solid information to guide future gene-finding efforts that rely on fine-mapping and association approaches...
  19. pmc Common DISC1 polymorphisms disrupt Wnt/GSK3Ī² signaling and brain development
    Karun K Singh
    Howard Hughes Medical Institute, Massachusetts Institute of Technology, Cambridge, MA 02139, USA
    Neuron 72:545-58. 2011
    ..Our data demonstrate DISC1 variants impair Wnt signaling and brain development and elucidateĀ a possible mechanism for their role in neuropsychiatric phenotypes...
  20. pmc Genome-wide association study of suicide attempts in mood disorder patients
    Roy H Perlis
    Department of Psychiatry, Massachusetts General Hospital, Boston, 02114, USA
    Am J Psychiatry 167:1499-507. 2010
    ..The authors therefore examined the association between common genomewide variation and lifetime suicide attempts...
  21. pmc PLINK: a tool set for whole-genome association and population-based linkage analyses
    Shaun Purcell
    Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA 02114, USA
    Am J Hum Genet 81:559-75. 2007
    ..Analysis of the patterns of segmental sharing has the potential to map disease loci that contain multiple rare variants in a population-based linkage analysis...
  22. pmc Extremely low-coverage sequencing and imputation increases power for genome-wide association studies
    Bogdan Pasaniuc
    Department of Epidemiology, Harvard School of Public Health, Boston, Massachusetts, USA
    Nat Genet 44:631-5. 2012
    ....
  23. pmc Two quantitative trait loci for prepulse inhibition of startle identified on mouse chromosome 16 using chromosome substitution strains
    Tracey L Petryshen
    Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetic Research, Broad Institute of Harvard, 185 Cambridge Street, Cambridge, MA 02139, USA
    Genetics 171:1895-904. 2005
    ..The regions contain a limited number of strong biological candidate genes that are potential risk genes for psychiatric disorders in which patients have PPI impairments...
  24. ncbi request reprint Assessing the impact of population stratification on genetic association studies
    Matthew L Freedman
    Department of Medicine and Molecular Biology, Massachusetts General Hospital, Boston, and Program in Medical and Population Genetics, Broad Institute, Cambridge, USA
    Nat Genet 36:388-93. 2004
    ..Our results suggest that modest amounts of stratification can exist even in well designed studies...
  25. ncbi request reprint Psychiatric genetics: a survey of psychiatrists' knowledge, opinions, and practice patterns
    Christine T Finn
    Department of Psychiatry, the Psychiatric Genetics Program in Mood and Anxiety Disorders, Massachusetts General Hospital, Boston, Mass 02115, USA
    J Clin Psychiatry 66:821-30. 2005
    ..The goal of this study was to assess psychiatrists' familiarity with and attitudes toward genetic information...
  26. ncbi request reprint Schizophrenia: do the genetics and neurobiology of neuregulin provide a pathogenesis model?
    Edward M Scolnick
    Broad Institute of the Massachusetts Institute of Technology and Harvard University, Cambridge 02139, USA
    Harv Rev Psychiatry 14:64-77. 2006
    ..The model outlines experimental approaches that may, in the future, shed more light on its validity...
  27. doi request reprint Association between microdeletion and microduplication at 16p11.2 and autism
    Lauren 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...
  28. ncbi request reprint Recurrence risks for schizophrenia in a Swedish national cohort
    Paul Lichtenstein
    Department of Medical Epidemiology and Biostatistics, Karolinska Institute, Stockholm, Sweden
    Psychol Med 36:1417-25. 2006
    ..Widely cited estimates are from small/older samples. If these estimates are biased upwards, then the rationale for molecular genetic studies of schizophrenia may not be as solid...
  29. ncbi request reprint Molecular genetics of attention-deficit/hyperactivity disorder
    Stephen V Faraone
    Medical Genetics Research Center and Department of Psychiatry, State University of New York Upstate Medical University, Syracuse, New York 13210, USA
    Biol Psychiatry 57:1313-23. 2005
    ....
  30. ncbi request reprint Serotonin gene polymorphisms and bipolar I disorder: focus on the serotonin transporter
    Hader A Mansour
    Department of Psychiatry, University of Pittsburgh School of Medicine, Western Psychiatric Institute and Clinic, 3811 O Hara Street, Pittsburgh, PA 15213, U S A
    Ann Med 37:590-602. 2005
    ..Our analyses do not support association between SLC6A4 and BDI families. Further studies using sub-groups of BDI are worthwhile...