David L Pauls

Summary

Affiliation: Harvard University
Country: USA

Publications

  1. ncbi request reprint An update on the genetics of Gilles de la Tourette syndrome
    David L Pauls
    Psychiatric and Neurodevelopmental Genetics Unit, Massachusetts General Hospital, Harvard Medical School, 149 13th Street, 10th Floor, Charlestown, MA 02129, USA
    J Psychosom Res 55:7-12. 2003
  2. pmc Genome-wide association study of Tourette's syndrome
    J M Scharf
    Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetics Research, Boston, MA, USA
    Mol Psychiatry 18:721-8. 2013
  3. ncbi request reprint The genetics of obsessive compulsive disorder: a review of the evidence
    David L Pauls
    Harvard Medical School, Psychiatric and Neurodevelopmental Genetics Unit in Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA 02114, USA
    Am J Med Genet C Semin Med Genet 148:133-9. 2008
  4. pmc The genetics of obsessive-compulsive disorder: a review
    David L Pauls
    Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts 02114, USA
    Dialogues Clin Neurosci 12:149-63. 2010
  5. ncbi request reprint Association of the SLC1A1 glutamate transporter gene and obsessive-compulsive disorder
    S Evelyn Stewart
    Psychiatric Neurodevelopmental and Genetics Unit, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts 02114, USA
    Am J Med Genet B Neuropsychiatr Genet 144:1027-33. 2007
  6. pmc The familial association of tourette's disorder and ADHD: the impact of OCD symptoms
    Julia A O'Rourke
    Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Boston, USA
    Am J Med Genet B Neuropsychiatr Genet 156:553-60. 2011
  7. pmc Family-based genetic association study of DLGAP3 in Tourette Syndrome
    Jacquelyn Crane
    Center for Human Genetics Research, Massachusetts General Hospital, Boston, USA
    Am J Med Genet B Neuropsychiatr Genet 156:108-14. 2011
  8. ncbi request reprint Sex-specific association of a common variant of the XG gene with autism spectrum disorders
    Shun Chiao Chang
    Department of Epidemiology, Harvard School of Public Health, Boston, Massachusetts Department of Social and Behavioral Sciences, Harvard School of Public Health, Boston, Massachusetts
    Am J Med Genet B Neuropsychiatr Genet 162:742-50. 2013
  9. pmc Fertility therapies, infertility and autism spectrum disorders in the Nurses' Health Study II
    Kristen Lyall
    Department of Nutrition, Harvard School of Public Health, Boston, MA, USA
    Paediatr Perinat Epidemiol 26:361-72. 2012
  10. pmc Pregnancy complications and obstetric suboptimality in association with autism spectrum disorders in children of the Nurses' Health Study II
    Kristen Lyall
    Department of Epidemiology, Harvard School of Public Health, Boston, Massachusetts 02115, USA
    Autism Res 5:21-30. 2012

Collaborators

Detail Information

Publications47

  1. ncbi request reprint An update on the genetics of Gilles de la Tourette syndrome
    David L Pauls
    Psychiatric and Neurodevelopmental Genetics Unit, Massachusetts General Hospital, Harvard Medical School, 149 13th Street, 10th Floor, Charlestown, MA 02129, USA
    J Psychosom Res 55:7-12. 2003
    ..To summarize the current data suggesting that Gilles de la Tourette syndrome (GTS) is inherited and genetic...
  2. pmc Genome-wide association study of Tourette's syndrome
    J M Scharf
    Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetics Research, Boston, MA, USA
    Mol Psychiatry 18:721-8. 2013
    ..This study lays the groundwork for the eventual identification of common TS susceptibility variants in larger cohorts and helps to provide a more complete understanding of the full genetic architecture of this disorder...
  3. ncbi request reprint The genetics of obsessive compulsive disorder: a review of the evidence
    David L Pauls
    Harvard Medical School, Psychiatric and Neurodevelopmental Genetics Unit in Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA 02114, USA
    Am J Med Genet C Semin Med Genet 148:133-9. 2008
    ..Future research will requite much larger samples and the collaboration of researchers to be able to identify susceptibility loci for OCD...
  4. pmc The genetics of obsessive-compulsive disorder: a review
    David L Pauls
    Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts 02114, USA
    Dialogues Clin Neurosci 12:149-63. 2010
    ....
  5. ncbi request reprint Association of the SLC1A1 glutamate transporter gene and obsessive-compulsive disorder
    S Evelyn Stewart
    Psychiatric Neurodevelopmental and Genetics Unit, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts 02114, USA
    Am J Med Genet B Neuropsychiatr Genet 144:1027-33. 2007
    ..Two separate proximal haplotypes in the glutamate transporter gene, SLC1A1, were recently reported to be associated with OCD among males, but replication is required...
  6. pmc The familial association of tourette's disorder and ADHD: the impact of OCD symptoms
    Julia A O'Rourke
    Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Boston, USA
    Am J Med Genet B Neuropsychiatr Genet 156:553-60. 2011
    ..The current results suggest that TD, ADHD, and OCD symptoms have overlapping neurobiology when occurring in families of TD and/or ADHD probands...
  7. pmc Family-based genetic association study of DLGAP3 in Tourette Syndrome
    Jacquelyn Crane
    Center for Human Genetics Research, Massachusetts General Hospital, Boston, USA
    Am J Med Genet B Neuropsychiatr Genet 156:108-14. 2011
    ..Although none of these results remained significant after correction for multiple hypothesis testing, DLGAP3 remains a promising candidate gene for TS...
  8. ncbi request reprint Sex-specific association of a common variant of the XG gene with autism spectrum disorders
    Shun Chiao Chang
    Department of Epidemiology, Harvard School of Public Health, Boston, Massachusetts Department of Social and Behavioral Sciences, Harvard School of Public Health, Boston, Massachusetts
    Am J Med Genet B Neuropsychiatr Genet 162:742-50. 2013
    ..Our results suggest that the pseudoautosomal boundary on Xp22.33/Yp11.31 may harbor male-specific genetic variants for ASD...
  9. pmc Fertility therapies, infertility and autism spectrum disorders in the Nurses' Health Study II
    Kristen 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)...
  10. pmc Pregnancy complications and obstetric suboptimality in association with autism spectrum disorders in children of the Nurses' Health Study II
    Kristen 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...
  11. ncbi request reprint Principal components analysis of a large cohort with Tourette syndrome
    Mary M Robertson
    Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Harvard Medical School, 185 Cambridge Street, Boston, MA 02114, USA
    Br J Psychiatry 193:31-6. 2008
    ..Tourette syndrome is a heterogeneous familial disorder for which the genetic mechanisms are unknown. A better characterisation of the phenotype may help identify susceptibility genes...
  12. doi request reprint Association of reading disability on chromosome 6p22 in the Afrikaner population
    Jill V Platko
    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 147:1278-87. 2008
    ..Of particular interest were markers on chromosomes 1 and 15. These two regions have been implicated in studies of populations that formed the founding population in the Afrikaner population...
  13. ncbi request reprint Four-factor structure of obsessive-compulsive disorder symptoms in children, adolescents, and adults
    S Evelyn Stewart
    Massachusetts General Hospital, Harvard Medical School, Boston, MA 02114, USA
    J Am Acad Child Adolesc Psychiatry 47:763-72. 2008
    ..Identification of a category-based OCD symptom dimension structure that is validated for use across child, adolescent, and adult age groups is necessary to guide ongoing translational research...
  14. ncbi request reprint Obsessive-compulsive disorder: an integrative genetic and neurobiological perspective
    David L Pauls
    1 Department of Psychiatry, Harvard Medical School, Boston, Massachusetts 02115 USA 2 Department of Psychiatry, Massachusetts General Hospital, Boston, Massachusetts 02114, USA 3 Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts 02114, USA
    Nat Rev Neurosci 15:410-24. 2014
    ..Environmental factors such as adverse perinatal events, psychological trauma and neurological trauma may modify the expression of risk genes and, hence, trigger the manifestation of obsessive-compulsive behaviours...
  15. pmc Common genetic variation in the GAD1 gene and the entire family of DLX homeobox genes and autism spectrum disorders
    Shun 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...
  16. ncbi request reprint A genetic family-based association study of OLIG2 in obsessive-compulsive disorder
    S Evelyn Stewart
    Psychiatric Neuroscience Research Division, and Obsessive Compulsive Disorder Clinic, Harvard Medical School, Massachusetts General Hospital, Boston, MA 02114, USA
    Arch Gen Psychiatry 64:209-14. 2007
    ..The gene for oligodendrocyte lineage transcription factor 2 (OLIG2) is an essential regulator in the development of cells that produce white matter (myelin). The OLIG2 gene is also highly expressed in brain regions implicated in OCD...
  17. ncbi request reprint The genetics of reading disability
    Tracey L Petryshen
    Psychiatric and Neurodevelopment Genetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, 185 Cambridge Street, Boston, MA 02114, USA
    Curr Psychiatry Rep 11:149-55. 2009
    ..Future studies to help us understand the function of these and other RD candidate genes promise to yield enormous insight into the neurobiologic mechanisms underlying the pathophysiology of this disorder...
  18. pmc The genetics of Tourette syndrome: a review
    Julia A O'Rourke
    Center for Human Genetic Research, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA
    J Psychosom Res 67:533-45. 2009
    ..This article summarizes and evaluates recent advances in the genetics of Gilles de la Tourette syndrome (GTS)...
  19. pmc 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 II
    Kristen 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...
  20. pmc Disruption of neurexin 1 associated with autism spectrum disorder
    Hyung Goo Kim
    Molecular Neurogenetics Unit, Center for Human Genetic Research and Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02114, USA
    Am J Hum Genet 82:199-207. 2008
    ....
  21. ncbi request reprint A genome-wide scan and fine mapping in Tourette syndrome families
    David L Pauls
    Psychiatric and Neurodevelopmental Genetics Unit, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts, USA
    Adv Neurol 99:130-5. 2006
  22. ncbi request reprint Principal components analysis of obsessive-compulsive disorder symptoms in children and adolescents
    S Evelyn Stewart
    Psychiatric and Neurodevelopmental Genetics Unit, Massachusetts General Hospital, Department of Psychiatry, Harvard Medical School, Boston, Massachusetts 02114, USA
    Biol Psychiatry 61:285-91. 2007
    ..The purpose of this study was to conduct an exploratory principal components analysis of obsessive-compulsive (OC) symptoms in children and adolescents with OCD to identify improved phenotypes for future studies...
  23. ncbi request reprint A controlled family study of attention-deficit/hyperactivity disorder and Tourette's disorder
    S Evelyn Stewart
    Psychiatric and Neurodevelopmental Genetics Unit, Massachusetts General Hospital and Harvard Medical School, Boston 02114, USA
    J Am Acad Child Adolesc Psychiatry 45:1354-62. 2006
    ..Familial relationships between DSM-IV ADHD and TD are studied in TD+ADHD, TD-only (TD-ADHD), ADHD-only (ADHD-TD), and control groups...
  24. ncbi request reprint Anxiety and major depression comorbidity in a family study of obsessive-compulsive disorder
    Alice S Carter
    Department of Psychology, University of Massachusetts Boston, Boston, Massachusetts 02129, USA
    Depress Anxiety 20:165-74. 2004
    ..Furthermore, age at onset in probands is associated with specific anxiety and affective comorbidity among case relatives. These findings support the hypothesis that early- and late-onset OCD represent different etiologic variants...
  25. ncbi request reprint The genetics of attention-deficit/hyperactivity disorder
    David L Pauls
    Department of Psychiatry, Harvard Medical School, Psychiatric and Neurodevelopmental Genetics Unit, Massachusetts General Hospital, East, Charlestown, MA 02129, USA
    Biol Psychiatry 57:1310-2. 2005
  26. ncbi request reprint Effectiveness of intensive residential treatment (IRT) for severe, refractory obsessive-compulsive disorder
    S Evelyn Stewart
    McLean Hospital, Harvard Medical School, North Belknap 1, 115 Mill Street, Belmont MA 02478, USA
    J Psychiatr Res 39:603-9. 2005
    ..No formalized OCD IRT outcome studies have been completed to date in North America...
  27. ncbi request reprint Obsessive-compulsive symptoms in parents of Tourette syndrome probands and autism spectrum disorder probands
    Yukiko Kano
    Graduate School of Medical Sciences, Kitasato University, Kanagawa, Japan
    Psychiatry Clin Neurosci 58:348-52. 2004
    ..No significant relationship was observed between OCS in TS or ASD probands and OCS of their parents. Further studies on OCD and OCS including a dimensional approach within ASD families are needed...
  28. ncbi request reprint Obsessive-compulsive symptom dimensions in affected sibling pairs diagnosed with Gilles de la Tourette syndrome
    James F Leckman
    Yale Child Study Center, Yale University School of Medicine, New Haven, Connecticut 06520, USA
    Am J Med Genet B Neuropsychiatr Genet 116:60-8. 2003
    ..We conclude that familial factors contribute significantly to OC symptom dimension phenotypes in GTS families. This familial contribution could be genetic or environmental...
  29. ncbi request reprint Clinical characteristics of Tourette syndrome probands and relatives' risks
    Yukiko Kano
    J Am Acad Child Adolesc Psychiatry 41:1148-9. 2002
  30. ncbi request reprint Recent findings in the genetics of OCD
    Michele T Pato
    Laboratory of Psychiatric and Molecular Genetics, SUNY at Buffalo, USA
    J Clin Psychiatry 63:30-3. 2002
    ..Candidate gene studies are also being conducted, with the goal of understanding the molecular mechanisms of OCD...
  31. ncbi request reprint Children at familial risk for Tourette's disorder: Child and parent diagnoses
    William M McMahon
    Departments of Psychiatry and Pediatrics at University of Utah and Primary Children s Medical Center, Salt Lake City, Utah 84108 1241, USA
    Am J Med Genet B Neuropsychiatr Genet 121:105-11. 2003
    ..Furthermore, the risk is even greater when both parents are affected. Finally, our diagnosis of tic disorders in 21% of subjects initially reported by parents to be unaffected affirms the value of structured clinical assessments...
  32. ncbi request reprint Association between the COMT locus and obsessive-compulsive disorder in females but not males
    John P Alsobrook
    Child Study Center, Yale University School of Medicine, New Haven, Connecticut, USA
    Am J Med Genet 114:116-20. 2002
    ..049), but not in male probands. These findings indicate that COMT may be etiologically relevant to OCD in a gender-specific manner opposite to that shown in previous studies...
  33. ncbi request reprint Obsessive-compulsive spectrum disorders in rheumatic fever with and without Sydenham's chorea
    Ana Gabriela Hounie
    Psychiatry Department, Medical School of the University of São Paulo HCFMUSP, Sao Paulo, Brazil
    J Clin Psychiatry 65:994-9. 2004
    ..Recent findings suggest that acute-phase rheumatic fever (RF) patients present with higher frequencies of obsessive-compulsive disorder (OCD) and tic disorders. Until now, there have been no such studies in RF in non-acute phases...
  34. pmc Genomewide scan of hoarding in sib pairs in which both sibs have Gilles de la Tourette syndrome
    Heping Zhang
    Department of Epidemiology and Public Health, Yale Child Study Center, Yale University School of Medicine, 60 College Street, New Haven, CT 06520 8034, USA
    Am J Hum Genet 70:896-904. 2002
    ..000003. Although P values were not adjusted for multiple comparison, nearly all were much smaller than the customary significance level of.0001 for genomewide scans...
  35. ncbi request reprint A factor analysis of tic symptoms in Gilles de la Tourette's syndrome
    John P Alsobrook
    Child Study Center, Department of Psychology, Yale University, New Haven, CT, USA
    Am J Psychiatry 159:291-6. 2002
    ..However, the great deal of clinical variability across patients may represent an underlying etiologic complexity. Issues of phenotypic heterogeneity are particularly critical to current efforts at mapping genes involved in this syndrome...
  36. pmc Epigenetic abnormalities associated with a chromosome 18(q21-q22) inversion and a Gilles de la Tourette syndrome phenotype
    Matthew W State
    Child Study Center and Department of Genetics, Yale University School of Medicine, New Haven, CT 06511, USA
    Proc Natl Acad Sci U S A 100:4684-9. 2003
    ....
  37. ncbi request reprint A family study of early-onset obsessive-compulsive disorder
    Maria Conceição do Rosario-Campos
    Child Study Center, Yale University School of Medicine, New Haven, Connecticut, USA
    Am J Med Genet B Neuropsychiatr Genet 136:92-7. 2005
    ..Childhood onset OCD is a highly familial disorder. Some early-onset cases may represent a valid subgroup, with higher genetic loading and shared vulnerability with chronic tic disorders...
  38. ncbi request reprint Hoarding in obsessive-compulsive disorder: results from the OCD Collaborative Genetics Study
    Jack F Samuels
    Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, 600 N Wolfe Street, Meyer 4 181, Baltimore, MD 21287 7228, USA
    Behav Res Ther 45:673-86. 2007
    ..The findings suggest that hoarding behavior may help differentiate a distinct clinical subgroup of people with OCD and may aggregate in some OCD families. Indecision may be a risk factor for hoarding in these families...
  39. ncbi request reprint Significant linkage to compulsive hoarding on chromosome 14 in families with obsessive-compulsive disorder: results from the OCD Collaborative Genetics Study
    Jack Samuels
    Department of Psychiatry and Behavioral Sciences, Johns Hopkins University, School of Medicine, 600 N Wolfe St, Meyer 4 181, Baltimore, MD 21287 7228, USA
    Am J Psychiatry 164:493-9. 2007
    ..The objective of this study was to determine whether there are chromosomal regions specifically linked to compulsive hoarding behavior in families with obsessive-compulsive disorder...
  40. ncbi request reprint Demographic and clinical characteristics associated with treatment status in family members with obsessive-compulsive disorder
    Bernadette Cullen
    Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, Maryland 21287, USA
    Depress Anxiety 25:218-24. 2008
    ..Clinical factors are predominant in predicting treatment status in family members with OCD. Although the mean duration from onset of symptoms to treatment was long, younger family members appear to receive treatment sooner...
  41. ncbi request reprint Obsessive-compulsive symptoms in sibling pairs concordant for obsessive-compulsive disorder
    Priscila Chacon
    Department of Psychiatry, University of Sao Paulo School of Medicine, Sao Paulo, Brazil
    Am J Med Genet B Neuropsychiatr Genet 144:551-5. 2007
    ..76; P = 0.01). Familial factors seem to contribute to specific OCD phenotypic components such as age at onset of OCS and specific dimensions. The obvious influence of gender is as yet unexplained...
  42. ncbi request reprint Obsessive-compulsive spectrum disorders and rheumatic fever: a family study
    Ana Gabriela Hounie
    Department of Psychiatry, University of Sao Paulo Medical School, Sao Paulo, Brazil
    Biol Psychiatry 61:266-72. 2007
    ..Our objective was to estimate the frequency of OCSD in first-degree relatives (FDRs) of RF patients and controls to determine whether there is a familial relationship between OCSD and RF...
  43. pmc The OCD collaborative genetics study: methods and sample description
    Jack F Samuels
    Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, Maryland 21287 7228, USA
    Am J Med Genet B Neuropsychiatr Genet 141:201-7. 2006
    ....
  44. ncbi request reprint Sequence variants in SLITRK1 are associated with Tourette's syndrome
    Jesse F Abelson
    Child Study Center, Yale University School of Medicine, New Haven, CT 06520, USA
    Science 310:317-20. 2005
    ..Wild-type SLITRK1, but not the frameshift mutant, enhanced dendritic growth in primary neuronal cultures. Collectively, these findings support the association of rare SLITRK1 sequence variants with TS...
  45. pmc Further development of YBOCS dimensions in the OCD Collaborative Genetics study: symptoms vs. categories
    Anthony Pinto
    Department of Psychiatry and Human Behavior, Brown Medical School, Butler Hospital, Providence, RI 02906, USA
    Psychiatry Res 160:83-93. 2008
    ..The results support investigation of this multidimensional model in OCD genetic linkage studies...
  46. pmc Adaptive, emotional, and family functioning of children with obsessive-compulsive disorder and comorbid attention deficit hyperactivity disorder
    Denis G Sukhodolsky
    Child Study Center, Yale University School of Medicine, New Haven, CT 06520 7900, USA
    Am J Psychiatry 162:1125-32. 2005
    ....
  47. ncbi request reprint The role of clinical phenotypes in understanding the genetics of obsessive-compulsive disorder
    Valsamma Eapen
    UAE University, PO Box 17666, Al Ain, United Arab Emirates
    J Psychosom Res 61:359-64. 2006
    ..The implications of this finding on clinical and genetic heterogeneity in OCD are discussed...