David L. Pauls

ORCID: 0000-0002-8107-345X
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About
Contact & Profiles
Research Areas
  • Obsessive-Compulsive Spectrum Disorders
  • Autism Spectrum Disorder Research
  • Eating Disorders and Behaviors
  • Genetics and Neurodevelopmental Disorders
  • Child and Adolescent Psychosocial and Emotional Development
  • Child Nutrition and Feeding Issues
  • Neurotransmitter Receptor Influence on Behavior
  • Williams Syndrome Research
  • Attention Deficit Hyperactivity Disorder
  • Genetic Associations and Epidemiology
  • Genomic variations and chromosomal abnormalities
  • Genetic Mapping and Diversity in Plants and Animals
  • Virology and Viral Diseases
  • Family and Disability Support Research
  • Mental Health and Psychiatry
  • Bipolar Disorder and Treatment
  • Child Development and Digital Technology
  • Personality Disorders and Psychopathology
  • Hereditary Neurological Disorders
  • Sexuality, Behavior, and Technology
  • Reading and Literacy Development
  • Agriculture and Farm Safety
  • Urticaria and Related Conditions
  • Cognitive Abilities and Testing
  • Mental Health Research Topics

Harvard University
2010-2024

Karolinska Institutet
2021

Massachusetts General Hospital
2010-2019

Stanley Foundation
2019

Broad Institute
2019

Center for Human Genetics
2008-2018

Johns Hopkins University
1995-2017

Johns Hopkins Medicine
1995-2017

University of California, San Francisco
2016

Health Net
2016

The goal of this study was to determine 1) whether obsessive-compulsive disorder is familial, 2) there a familial relationship between and Gilles de la Tourette's syndrome chronic tics, 3) different types exist.In family study, all available first-degree relatives 100 probands with were interviewed directly structured interviews, best-estimate diagnoses assigned. In addition the 466 probands, 113 comparison subjects who 33 psychiatrically unaffected studied same interviews.The rates...

10.1176/ajp.152.1.76 article EN American Journal of Psychiatry 1995-01-01

Obsessive-compulsive disorder encompasses a broad range of symptoms that represent multiple psychological domains, including perception, cognition, emotion, social relatedness, and diverse motor behaviors. The purpose these analyses was to evaluate the correlational relationships obsessive-compulsive disorder.This study examined 13 priori categories used group types obsessions compulsions in Yale-Brown Obsessive Compulsive Scale symptom checklist two independent groups patients with (N = 208...

10.1176/ajp.154.7.911 article EN American Journal of Psychiatry 1997-07-01

Tourette syndrome (TS) is characterized by high rates of psychiatric comorbidity; however, few studies have fully these comorbidities. Furthermore, most included relatively participants (<200), and none has examined the ages highest risk for each TS-associated comorbidity or their etiologic relationship to TS.To characterize lifetime prevalence, clinical associations, risk, etiology among individuals with TS.Cross-sectional structured diagnostic interviews conducted between April 1, 1992,...

10.1001/jamapsychiatry.2014.2650 article EN JAMA Psychiatry 2015-02-11

Autism is characterized by impairments in reciprocal social interaction and communication, restricted stereotyped patterns of interests activities. Developmental difficulties are apparent before 3 years age there evidence for strong genetic influences most likely involving more than one susceptibility gene. A two-stage genome search loci autism was performed on 87 affected sib pairs plus 12 non-sib relative-pairs, from a total 99 families identified an international consortium. Regions six...

10.1093/hmg/7.3.571 article EN Human Molecular Genetics 1998-03-01

Tourette's syndrome is a common developmental neuropsychiatric disorder characterized by chronic motor and vocal tics. Despite strong genetic contribution, inheritance complex, risk alleles have proven difficult to identify. Here, we describe an analysis of linkage in two-generation pedigree leading the identification rare functional mutation HDC gene encoding L-histidine decarboxylase, rate-limiting enzyme histamine biosynthesis. Our findings, together with previously published data from...

10.1056/nejmoa0907006 article EN New England Journal of Medicine 2010-05-06

Background Experts have proposed removing obsessive–compulsive disorder (OCD) from the anxiety disorders section and grouping it with putatively related conditions in DSM-5. The current study uses co-morbidity familiality data to inform these issues. Method Case family OCD Collaborative Genetics Study (382 OCD-affected probands 974 of their first-degree relatives) were compared control Johns Hopkins Family (73 non-OCD-affected 233 relatives). Results Anxiety (especially agoraphobia...

10.1017/s0033291711000742 article EN Psychological Medicine 2011-05-13

Results from family studies have suggested that obsessive-compulsive disorder (OCD) is a genetically heterogeneous and emphasized the importance of identifying valid subgroups patients. The current study focused on early-onset OCD probands examined recurrence risks tics among first-degree members. One hundred six children adolescents with were recruited specialty clinic for 44 control individuals without identified by random-digit dialing. These 150 their 465 relatives assessed trained...

10.1002/ajmg.b.30149 article EN American Journal of Medical Genetics Part B Neuropsychiatric Genetics 2005-01-01

SAP90/PSD95-associated protein (SAPAP) family proteins are post-synaptic density (PSD) components that interact with other to form a key scaffolding complex at excitatory (glutamatergic) synapses. A recent study found mice deletion of the Sapap3 gene groomed themselves excessively, exhibited increased anxiety-like behaviors, and had cortico-striatal synaptic defects, all which were preventable lentiviral-mediated expression in striatum; behavioral abnormalities also reversible fluoxetine. In...

10.1002/ajmg.b.30897 article EN American Journal of Medical Genetics Part B Neuropsychiatric Genetics 2008-12-02
Jeremiah M. Scharf Dongmei Yu Carol A. Mathews Benjamin M. Neale S. Evelyn Stewart and 93 more Jesen Fagerness Patrick Evans Eric R. Gamazon Christopher K. Edlund Susan K. Service А. А. Тихомиров Lisa Osiecki Caroline Illmann Anna Pluzhnikov Anuar Konkashbaev Lea K. Davis Buhm Han Jacquelyn Crane Priya Moorjani Andrew Crenshaw Melissa Parkin Victor I. Reus Trevor Lowe Martha Rangel‐Lugo Sylvain Chouinard Yves Dion Simon Girard Daniëlle C. Cath Jan Smit Robert A. King Thomas Fernandez James F. Leckman Kenneth K. Kídd J.R. Kidd A.J. Pakstis Matthew W. State Luis Diego Herrera Roberto Romero Eduardo Fournier Paul Sandor Cathy L. Barr N. Phan Varda Gross‐Tsur Fortu Benarroch Yehuda Pollak Cathy L. Budman Ruth D. Bruun Gerald Erenberg Allan L. Naarden Paul C. Lee Noel S. Weiss Bárbara Kremeyer Gabriel Bedoya Berrío Desmond Campbell Julio César Cardona Silgado William Cornejo Ochoa Sandra Catalina Mesa Restrepo Hans‐Helge Müller Ana V. Valencia Duarte Gholson J. Lyon M. Leppert J L Morgan Robert B. Weiss Marco A. Grados Kari Anderson Shekar Davarya Harvey S. Singer John T. Walkup Joseph Jankovic Jay A. Tischfield Gary A. Heiman Donald L. Gilbert Pieter J. Hoekstra Mary M. Robertson Roger Kurlan Chunyu Liu J. Raphael Gibbs Andrew B. Singleton John Hardy E Strengman Roel A. Ophoff Michael Wagner R. Moessner Daniel B. Mirel Daniëlle Posthuma C. Sabatti Eleazar Eskin D V Conti James A. Knowles Andrés Ruiz‐Linares Guy A. Rouleau Shaun Purcell Peter Heutink Ben A. Oostra William M. McMahon Nelson B. Freimer Nancy J. Cox David L. Pauls

10.1038/mp.2012.69 article EN Molecular Psychiatry 2012-08-14

Complex segregation analyses were performed on families ascertained through 40 unselected consecutive patients with Tourette's syndrome to examine the hypothesis that its transmission is consistent genetic inheritance. Analyses done using several diagnostic classifications. All results an autosomal dominant gene high penetrance. The penetrances ranged from 0.882 1.000 for males and 0.452 0.980 females, depending upon specific classification scheme incorporated into analyses.

10.1192/bjp.162.5.593 article EN The British Journal of Psychiatry 1993-05-01

Objective This study examined the familial relationship between Gilles de la Tourette's syndrome (GTS) and attention deficit disorder (ADD), learning problems, speech disorders, stuttering. Method family consisted of 338 first degree relatives 85 GTS probands 113 controls. All available were personally assessed using structured interviews, history information was collected from all members. Best-estimate diagnoses assigned for GTS, ADD, Analyses whether stuttering by themselves represent...

10.1097/00004583-199309000-00025 article EN cc-by-nc-nd Journal of the American Academy of Child & Adolescent Psychiatry 1993-09-01

Abstract Context: Obsessive‐Compulsive Disorder (OCD) is a debilitating illness with putative glutamatergic abnormalities. Two separate proximal haplotypes in the glutamate transporter gene, SLC1A1 , were recently reported to be associated OCD among males, but replication required. Objectives: This study examines as candidate gene for and explores gender influences. It was hypothesized that significant association between would replicated an independent sample of males not females. Design:...

10.1002/ajmg.b.30533 article EN American Journal of Medical Genetics Part B Neuropsychiatric Genetics 2007-09-25

The aim of the study was to examine psychiatric symptoms in high-functioning adolescents with autism spectrum disorders reported by multiple informants. Forty-three 11- 17-year-old Asperger syndrome (AS) or (HFA) and 217 typically developed completed Youth Self-Report (YSR), while their parents Child Behavior Checklist (CBCL). Teachers AS/HFA Teacher Report Form (TRF). informants significantly more symptoms, especially withdrawn, anxious/depressed, social attention problems, than controls....

10.1177/1362361309335719 article EN Autism 2009-11-01
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