Evidence map›Paper›PMID 33837273›Full record

ArticleMolecular psychiatry2021

Whole-exome sequencing identifies genes associated with Tourette's disorder in multiplex families.

Xiaolong Cao, Yeting Zhang, Mohamed Abdulkadir, Li Deng, Thomas V Fernandez, Blanca Garcia-Delgar, Julie Hagstrøm, Pieter J Hoekstra, Robert A King, Justin Koesterich and 11 more

Open access · greenAbstract read
In one paragraph

Article in Molecular psychiatry, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.

0numbers the graph read from it
0cells of the map it votes in
19citing papers in PubMed
3.6field-weighted citation impact, top 6% 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

19 citing papers in PubMed, 31 citations in OpenAlex.

  1. Review
  2. Article
  3. Identifying Distinct Tourette Disorder Subtypes using Clinical Data.medRxiv : the preprint server for health sciences · 2025
    Article
  4. Evaluation and Aggregation of Active Module Identification Algorithms.bioRxiv : the preprint server for biology · 2025
    Article
  5. Review
  6. Maternal genetic variants in kinesin motor domains prematurely increase egg aneuploidy.Proceedings of the National Academy of Sciences of the United States of America · 2024
    Article
  7. Review
  8. Article
  9. Article
  10. Review
  11. Article
  12. Molecular Landscape of Tourette's Disorder.International journal of molecular sciences · 2023
    Article
  13. Article
  14. Article
  15. Article
  16. Article
  17. Article
  18. Review
  19. Article
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

21 authors at 17 institutions in 9 countries.

Xiaolong Cao *Department of Genetics, Rutgers, The State University of New Jersey, Piscataway, NJ, USA.ORCID http://orcid.org/0000-0001-8124-7491
Yeting Zhang *Department of Genetics, Rutgers, The State University of New Jersey, Piscataway, NJ, USA.
Mohamed AbdulkadirDepartment of Genetics, Rutgers, The State University of New Jersey, Piscataway, NJ, USA.
Li DengDepartment of Genetics, Rutgers, The State University of New Jersey, Piscataway, NJ, USA.
Thomas V FernandezYale Child Study Center, Yale University School of Medicine, New Haven, CT, USA.ORCID http://orcid.org/0000-0003-0830-022X
Blanca Garcia-DelgarDepartment of Child and Adolescent Psychiatry and Psychology, Institute of Neurosciences, Hospital Clinic Universitari, Barcelona, Spain.
Julie HagstrømChild and Adolescent Mental Health Center, Mental Health Services, Capital Region of Denmark, Denmark.ORCID http://orcid.org/0000-0003-4337-307X
Pieter J HoekstraDepartment of Child and Adolescent Psychiatry, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
Robert A KingYale Child Study Center, Yale University School of Medicine, New Haven, CT, USA.
Justin KoesterichDepartment of Genetics, Rutgers, The State University of New Jersey, Piscataway, NJ, USA.ORCID http://orcid.org/0000-0001-8195-5666
Samuel KupermanDepartment of Psychiatry, Carver College of Medicine, University of Iowa, Iowa City, IA, USA.
Astrid MorerDepartment of Child and Adolescent Psychiatry and Psychology, Institute of Neurosciences, Hospital Clinic Universitari, Barcelona, Spain.
Cara NaselloDepartment of Genetics, Rutgers, The State University of New Jersey, Piscataway, NJ, USA.
Kerstin J PlessenChild and Adolescent Mental Health Center, Mental Health Services, Capital Region of Denmark, Denmark.
Joshua K ThackrayDepartment of Genetics, Rutgers, The State University of New Jersey, Piscataway, NJ, USA.ORCID http://orcid.org/0000-0003-2828-452X
Lisheng ZhouDepartment of Genetics, Rutgers, The State University of New Jersey, Piscataway, NJ, USA.
Tourette International Collaborative Genetics Study (TIC Genetics)
Andrea DietrichDepartment of Child and Adolescent Psychiatry, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
Jay A TischfieldDepartment of Genetics, Rutgers, The State University of New Jersey, Piscataway, NJ, USA.
Gary A HeimanDepartment of Genetics, Rutgers, The State University of New Jersey, Piscataway, NJ, USA.ORCID http://orcid.org/0000-0001-5859-0259
Jinchuan XingDepartment of Genetics, Rutgers, The State University of New Jersey, Piscataway, NJ, USA. jinchuan.xing@rutgers.edu.ORCID http://orcid.org/0000-0001-6469-8733
Rutgers, The State University of New Jersey · USUniversity of Miami · USCincinnati Children's Hospital Medical Center · USGreat Ormond Street Hospital · GBInstituto de Biomedicina de Sevilla · ESMental Health Services · DKUniversity Medical Center Groningen · NLUniversity of California, San Francisco · USUniversity of California San Francisco Medical Center · USYale University · USYonsei University · KRBiomedical Research Networking Center on Neurodegenerative Diseases · ESCentro de Investigación Biomédica en Red de Salud Mental · ESChildren's Hospital of Philadelphia · USHospital Universitari de Vic · ESTechnische Universität Dresden · DEUniversity of Iowa · US

Funding

NIMH Center Repository Supporting Stem Cell ResearchU24MH068457 · NIMH · RUTGERS THE ST UNIV OF NJ NEW BRUNSWICK · PI BRZUSTOWICZ, LINDA M, KNOWLES, JAMES A · 2003 to 2024
$213.8M
Yale Clinical and Translational Science Award (U Component)UL1TR001863 · NCATS · YALE UNIVERSITY · PI John H. Krystal, LUCILA OHNO-MACHADO · 2016 to 2026
$102.9M
The NINDS Human Cell and Data Repository (U24 renewal)U24NS095914 · NINDS · RUTGERS, THE STATE UNIV OF N.J. · PI Azadeh Jadali, JAMES A KNOWLES · 2015 to 2026
$15.9M
1/7 Collaborative Genomic Studies of Tourette Disorder.R01MH115958 · NIMH · RUTGERS, THE STATE UNIV OF N.J. · PI HEIMAN, GARY A., TISCHFIELD, JAY ARNOLD · 2018 to 2023
$6.8M
2/7-Collaborative genomic studies of Tourette DisorderR01MH115963 · NIMH · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI STATE, MATTHEW W. · 2018 to 2022
$4.9M
The Roles of Environmental Risks and GEX in Increasing ASD PrevalenceR01ES021462 · NIEHS · YALE UNIVERSITY · PI KIM, YOUNG SHIN · 2012 to 2018
$4.1M
Genomic Investigations of Tourette's DisorderK08MH099424 · NIMH · YALE UNIVERSITY · PI FERNANDEZ, THOMAS V · 2012 to 2015
$718k
1/8-Collaborative genomic studies of Tourette DisorderR01MH092293 · NIMH · RUTGERS, THE STATE UNIV OF N.J. · PI HEIMAN, GARY A., TISCHFIELD, JAY ARNOLD · 2011 to 2013
$510k
Collaborative Genomic Studies of Tourette Disorder SupplementR01MH115961 · NIMH · UNIVERSITY OF IOWA · PI KUPERMAN, SAMUEL · 2018 to 2022
$475k
NCATS NIH HHS UL1 TR001863NIEHS NIH HHS R01 ES021462NIMH NIH HHS K08 MH099424NIMH NIH HHS R01 MH092293NIMH NIH HHS R01 MH115958NIMH NIH HHS R01 MH115961NIMH NIH HHS R01 MH115963NIMH NIH HHS U24 MH068457NINDS NIH HHS U24 NS095914
6 · The paper itself

Abstract

Tourette's Disorder (TD) is a neurodevelopmental disorder (NDD) that affects about 0.7% of the population and is one of the most heritable NDDs. Nevertheless, because of its polygenic nature and genetic heterogeneity, the genetic etiology of TD is not well understood. In this study, we combined the segregation information in 13 TD multiplex families with high-throughput sequencing and genotyping to identify genes associated with TD. Using whole-exome sequencing and genotyping array data, we identified both small and large genetic variants within the individuals. We then combined multiple types of evidence to prioritize candidate genes for TD, including variant segregation pattern, variant function prediction, candidate gene expression, protein-protein interaction network, candidate genes from previous studies, etc. From the 13 families, 71 strong candidate genes were identified, including both known genes for NDDs and novel genes, such as HtrA Serine Peptidase 3 (HTRA3), Cadherin-Related Family Member 1 (CDHR1), and Zinc Finger DHHC-Type Palmitoyltransferase 17 (ZDHHC17). The candidate genes are enriched in several Gene Ontology categories, such as dynein complex and synaptic membrane. Candidate genes and pathways identified in this study provide biological insight into TD etiology and potential targets for future studies.

Indexed as

Tourette SyndromeCadherin Related ProteinsExome SequencingFamilyGenetic Predisposition to DiseaseHumansNerve Tissue ProteinsPedigreeSerine EndopeptidasesCadherin Related ProteinsCDHR1 protein, humanHTRA3 protein, humanNerve Tissue ProteinsSerine Endopeptidases

Identifiers

PMID33837273
PMCPMC8501157
OpenAlexW3148559905

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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.