Evidence map›Paper›PMID 34183866›Full record

ArticleNature neuroscience2021

Exome sequencing in obsessive-compulsive disorder reveals a burden of rare damaging coding variants.

Mathew Halvorsen, Jack Samuels, Ying Wang, Benjamin D Greenberg, Abby J Fyer, James T McCracken, Daniel A Geller, James A Knowles, Anthony W Zoghbi, Tess D Pottinger and 9 more

Abstract read
PubMed Publisher
In one paragraph

Article in Nature neuroscience, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 57 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
57citing papers in PubMed, 3 pooled it
8.0field-weighted citation impact, top 2% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

57 citing papers in PubMed, 3 syntheses or guidelines pooled it, 88 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Pooled it
  4. Article
  5. Article
  6. Article
  7. Review
  8. Review
  9. Article
  10. Rare protein-disrupting variants inmedRxiv : the preprint server for health sciences · 2026
    Article
  11. Black EquaLity in OCD NeuroGenomics (BELONG): Study Protocol.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2026
    Article
  12. Review
  13. Article
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  18. Large-scale discovery of neural enhancers for cis-regulation therapies.bioRxiv : the preprint server for biology · 2025
    Article
  19. Article
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

19 authors at 8 institutions in 1 country.

Mathew HalvorsenDepartment of Genetics, University of North Carolina at Chapel Hill School of Medicine, Chapel Hill, NC, USA.
Jack SamuelsDepartment of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Ying WangDepartment of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Benjamin D GreenbergDepartment of Psychiatry and Human Behavior, Brown Medical School, Providence, RI, USA.
Abby J FyerNew York State Psychiatric Institute, College of Physicians and Surgeons at Columbia University, New York, NY, USA.ORCID http://orcid.org/0000-0002-0944-2505
James T McCrackenDepartment of Psychiatry and Biobehavioral Sciences, David Geffen School of Medicine at Los Angeles, Los Angeles, CA, USA.
Daniel A GellerDepartment of Psychiatry, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.ORCID http://orcid.org/0000-0001-8692-4156
James A KnowlesSUNY Downstate Medical Center College of Medicine, Brooklyn, NY, USA.ORCID http://orcid.org/0000-0002-3307-5741
Anthony W ZoghbiNew York State Psychiatric Institute, College of Physicians and Surgeons at Columbia University, New York, NY, USA.
Tess D PottingerInstitute for Genomic Medicine, Columbia University Medical Center, New York, NY, USA.
Marco A GradosDepartment of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Mark A RiddleDepartment of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
O Joseph BienvenuDepartment of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Paul S NestadtDepartment of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, MD, USA.ORCID http://orcid.org/0000-0002-2479-703X
Janice KrasnowDepartment of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Fernando S GoesDepartment of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, MD, USA.ORCID http://orcid.org/0000-0001-6262-8264
Brion MaherDepartment of Mental Health, Johns Hopkins University Bloomberg School of Public Health, Baltimore, MD, USA.
Gerald Nestadt *Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, MD, USA. gnestadt@jhmi.edu.ORCID http://orcid.org/0000-0001-9461-5249
David B Goldstein *Institute for Genomic Medicine, Columbia University Medical Center, New York, NY, USA. dg2875@cumc.columbia.edu.ORCID http://orcid.org/0000-0002-1111-2820
Johns Hopkins University · USColumbia University Irving Medical Center · USBrown University · USColumbia University · USHarvard University · USNeurobehavioral Systems · USSUNY Downstate Health Sciences University · USUniversity of North Carolina at Chapel Hill · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Obsessive-compulsive disorder (OCD) affects 1-2% of the population, and, as with other complex neuropsychiatric disorders, it is thought that rare variation contributes to its genetic risk. In this study, we performed exome sequencing in the largest OCD cohort to date (1,313 total cases, consisting of 587 trios, 41 quartets and 644 singletons of affected individuals) and describe contributions to disease risk from rare damaging coding variants. In case-control analyses (n = 1,263/11,580), the most significant single-gene result was observed in SLITRK5 (odds ratio (OR) = 8.8, 95% confidence interval 3.4-22.5, P = 2.3 × 10

Indexed as

Case-Control StudiesCohort StudiesExome SequencingGenetic Predisposition to DiseaseHumansLoss of Function MutationMutation, MissenseObsessive-Compulsive Disorder

Identifiers

PMID34183866
OpenAlexW3174751313

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.