Evidence map›Paper›PMID 37316189›Full record

ArticleJournal of medical genetics2023

Dominant negative variants in

Arezoo Mohajeri, Maryam Vaseghi-Shanjani, Jill A Rosenfeld, Gui Xiang Yang, Henry Lu, Mehul Sharma, Susan Lin, Areesha Salman, Meriam Waqas, Mahshid Sababi Azamian and 19 more

Registry-linked trialOpen access · greenAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of medical genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT02450851 (Clinical and Genetic Evaluation of Patients With Undiagnosed Disorders Through the Undiagnosed Diseases Network), which is not on this map. Cited by 9 papers.

0numbers the graph read from it
0cells of the map it votes in
9citing papers in PubMed
2.0field-weighted citation impact, top 13% 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.

NCT02450851 recruitingnot on this map

Clinical and Genetic Evaluation of Patients With Undiagnosed Disorders Through the Undiagnosed Diseases Network

TypeobservationalSponsorNational Human Genome Research Institute (NHGRI)Ran2015 to 2028Enrolled20,000ConditionsGenetic Disease
3 · Its place in the literature

Who cites it

9 citing papers in PubMed, 12 citations in OpenAlex.

  1. IKZF-associated inborn errors of immunity.Journal of human immunity · 2025
    Review
  2. Article
  3. Article
  4. Article
  5. Review
  6. Article
  7. Article
  8. AIOLOS-Associated Inborn Errors of Immunity.Journal of clinical immunology · 2024
    Review
  9. Impaired tissue homing by the Ikzf3Frontiers in immunology · 2023
    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

29 authors at 3 institutions in 2 countries.

Arezoo MohajeriDepartment of Medical Genetics, The University of British Columbia, Vancouver, British Columbia, Canada.
Maryam Vaseghi-ShanjaniDepartment of Pediatrics, The University of British Columbia and BC Children's Hospital, Vancouver, British Columbia, Canada.
Jill A RosenfeldDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Gui Xiang YangDepartment of Medical Genetics, The University of British Columbia, Vancouver, British Columbia, Canada.
Henry LuDepartment of Pediatrics, The University of British Columbia and BC Children's Hospital, Vancouver, British Columbia, Canada.
Mehul SharmaDepartment of Pediatrics, The University of British Columbia and BC Children's Hospital, Vancouver, British Columbia, Canada.
Susan LinDepartment of Pediatrics, The University of British Columbia and BC Children's Hospital, Vancouver, British Columbia, Canada.
Areesha SalmanDepartment of Medical Genetics, The University of British Columbia, Vancouver, British Columbia, Canada.
Meriam WaqasDepartment of Pediatrics, The University of British Columbia and BC Children's Hospital, Vancouver, British Columbia, Canada.
Mahshid Sababi AzamianDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Kim C WorleyDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Kate L Del BelDepartment of Pediatrics, The University of British Columbia and BC Children's Hospital, Vancouver, British Columbia, Canada.
Frederick K KozakDepartment of Surgery, The University of British Columbia, Vancouver, British Columbia, Canada.
Ronak RahmanianDepartment of Surgery, The University of British Columbia, Vancouver, British Columbia, Canada.
Catherine M BiggsDepartment of Pediatrics, The University of British Columbia and BC Children's Hospital, Vancouver, British Columbia, Canada.
Kyla J HildebrandDepartment of Pediatrics, The University of British Columbia and BC Children's Hospital, Vancouver, British Columbia, Canada.
Seema R LalaniDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.ORCID 0000-0003-0707-657X
Sarah K NicholasDepartment of Pediatrics, Texas Children's Hospital, Houston, Texas, USA.
Daryl A ScottDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.ORCID 0000-0003-1460-5169
Sara MostafaviDepartment of Medical Genetics, The University of British Columbia, Vancouver, British Columbia, Canada.
Clara van KarnebeekDepartment of Pediatrics, The University of British Columbia and BC Children's Hospital, Vancouver, British Columbia, Canada.
Erika HenkelmanDepartment of Surgery, The University of British Columbia, Vancouver, British Columbia, Canada.
Jessica HalparinDepartment of Pediatrics, The University of British Columbia and BC Children's Hospital, Vancouver, British Columbia, Canada.
Connie L YangDepartment of Pediatrics, The University of British Columbia and BC Children's Hospital, Vancouver, British Columbia, Canada.
Linlea ArmstrongDepartment of Medical Genetics, The University of British Columbia, Vancouver, British Columbia, Canada.
Undiagnosed Diseases Network
Care4Rare Canada Consortium
Stuart E TurveyDepartment of Pediatrics, The University of British Columbia and BC Children's Hospital, Vancouver, British Columbia, Canada sturvey@bcchr.ca anna.lehman@vch.ca.ORCID 0000-0003-1599-1065
Anna LehmanDepartment of Medical Genetics, The University of British Columbia, Vancouver, British Columbia, Canada sturvey@bcchr.ca anna.lehman@vch.ca.
University of British Columbia · CABaylor College of Medicine · USTexas Children's Hospital · US

Funding

Pilot of New Technologies to Increase the Genomic Diagnosis of Undiagnosed Disease Network (UDN) PatientsU01HG007709 · NHGRI · BAYLOR COLLEGE OF MEDICINE · PI BACINO, CARLOS A., LEE, BRENDAN · 2014 to 2022
$14.3M
UCLA clinical site for the investigation of undiagnosed disordersU01NS134356 · NINDS · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI MARTINEZ-AGOSTO, JULIAN, NELSON, STANLEY F. · 2023 to 2023
$936k
C BRIGGSAE AND C ELEGANS GENOMIC SEQUENCE COMPARISONF32HG000130 · NHGRI · WASHINGTON UNIVERSITY · PI COUCH, JENNIFER A · 1994 to 1995
–
NHGRI NIH HHS F32 HG000130NHGRI NIH HHS U01 HG007709NINDS NIH HHS U01 NS134356
6 · The paper itself

Abstract

backgroundHelios (encoded by

methodsWe performed detailed phenotypic, genomic and functional investigations on two unrelated individuals with a phenotype of immune dysregulation combined with syndromic features including craniofacial differences, sensorineural hearing loss and congenital abnormalities.

resultsGenome sequencing revealed

conclusionThis study is the first to describe dominant negative

Indexed as

Craniofacial AbnormalitiesDevelopmental DisabilitiesHearing LossIkaros Transcription FactorBreast DiseasesDNA-Binding ProteinsHumansSyndromeDNA-Binding ProteinsIkaros Transcription FactorIKZF2 protein, humanCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesGenetics, MedicalGenomicsImmune System DiseasesSequence Analysis, DNA

Identifiers

PMID37316189
PMCPMC11206234
OpenAlexW4380608025

What OpenQuestion holds

Textmetadata
LicenceTDM
Read underepoch 390

Registered trials

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.