Research Topics
Genomes and Genes
| Pamela SklarSummaryAffiliation: Harvard University Country: USA Publications
| Collaborators
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Detail Information
Publications
Linkage analysis in psychiatric disorders: the emerging picturePamela 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...- 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.. - Principles of haplotype mapping and potential applications to attention-deficit/hyperactivity disorderPamela 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... 
Cross-disorder genomewide analysis of schizophrenia, bipolar disorder, and depressionJie 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...
Evidence for genetic association of RORB with bipolar disorderCasey 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...- Investigation of parent-of-origin effects in ADHD candidate genesJang 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... - Family-based association study of lithium-related and other candidate genes in bipolar disorderRoy 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... - Analysis of high-resolution HapMap of DTNBP1 (Dysbindin) suggests no consistency between reported common variant associations and schizophreniaMousumi 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... - A genomewide association study of response to lithium for prevention of recurrence in bipolar disorderRoy H Perlis
Department of Psychiatry, Massachusetts General Hospital, Boston, MA, USA
Am J Psychiatry 166:718-25. 2009.... - Genetics of bipolar disorder: focus on BDNF Val66Met polymorphismJinbo 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... - Association between the 5HT1B receptor gene (HTR1B) and the inattentive subtype of ADHDJordan 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... - Identification of EFHC2 as a quantitative trait locus for fear recognition in Turner syndromeLauren 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... - Confirmation of prior evidence of genetic susceptibility to alcoholism in a genome-wide association study of comorbid alcoholism and bipolar disorderGregory 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... - Modifiers and subtype-specific analyses in whole-genome association studies: a likelihood frameworkPhil 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... - Association study of 21 circadian genes with bipolar I disorder, schizoaffective disorder, and schizophreniaHader 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... - Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorderManuel 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... - Absence of association with DAT1 polymorphism and response to methylphenidate in a sample of adults with ADHDEric 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... - Combined analysis from eleven linkage studies of bipolar disorder provides strong evidence of susceptibility loci on chromosomes 6q and 8qMatthew 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... - Common DISC1 polymorphisms disrupt Wnt/GSK3Ī² signaling and brain developmentKarun 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... - Genome-wide association study of suicide attempts in mood disorder patientsRoy 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... - PLINK: a tool set for whole-genome association and population-based linkage analysesShaun 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... - Extremely low-coverage sequencing and imputation increases power for genome-wide association studiesBogdan Pasaniuc
Department of Epidemiology, Harvard School of Public Health, Boston, Massachusetts, USA
Nat Genet 44:631-5. 2012.... - Two quantitative trait loci for prepulse inhibition of startle identified on mouse chromosome 16 using chromosome substitution strainsTracey 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... - Assessing the impact of population stratification on genetic association studiesMatthew 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... - Psychiatric genetics: a survey of psychiatrists' knowledge, opinions, and practice patternsChristine 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... - Rare chromosomal deletions and duplications increase risk of schizophreniaJennifer L Stone
Nature 455:237-41. 2008..Our results provide strong support for a model of schizophrenia pathogenesis that includes the effects of multiple rare structural variants, both genome-wide and at specific loci... - 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... - 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... - Recurrence risks for schizophrenia in a Swedish national cohortPaul Lichtenstein
Department of Medical Epidemiology and Biostatistics, Karolinska Institute, Stockholm, Sweden
Psychol Med 36:1417-25. 2006..These data may be valuable for planning and interpreting genetic studies of schizophrenia... - Molecular genetics of attention-deficit/hyperactivity disorderStephen 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.... - Serotonin gene polymorphisms and bipolar I disorder: focus on the serotonin transporterHader 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...