Evidence map›Paper›PMID 30193138›Full record

ArticleAmerican journal of human genetics2018

IRF2BPL Is Associated with Neurological Phenotypes.

Paul C Marcogliese, Vandana Shashi, Rebecca C Spillmann, Nicholas Stong, Jill A Rosenfeld, Mary Kay Koenig, Julián A Martínez-Agosto, Matthew Herzog, Agnes H Chen, Patricia I Dickson and 35 more

Registry-linked trialAbstract readPublished Erratum
In one paragraph

Article in American journal of human genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT03892798 (Database Of Clinical Data For Individuals With Variants In The IRF2BPL Gene), which is not on this map. Cited by 12 papers.

0numbers the graph read from it
0cells of the map it votes in
12citing papers in PubMed
–field-weighted citation impact
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.

NCT03892798 completednot on this map

Database Of Clinical Data For Individuals With Variants In The IRF2BPL Gene

Typeobservational_patient_registrySponsorChildren's Hospital Medical Center, CincinnatiRan2018 to 2024Enrolled34ConditionsAutism Spectrum Disorder, Movement Disorders, Seizures, DystoniaArmsNo interventions are planned
3 · Its place in the literature

Who cites it

12 citing papers in PubMed.

  1. C1GALT1C1-Associated Mosaic Disorder of Glycosylation in a Female.Journal of inherited metabolic disease · 2025
    Article
  2. Review
  3. Article
  4. Article
  5. Neurology. Genetics · 2023
    Article
  6. Article
  7. Article
  8. Differential expression of MDGA1 in major depressive disorder.Brain, behavior, & immunity - health · 2022
    Article
  9. Article
  10. Article
  11. Article
  12. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

45 authors.

Paul C Marcogliese
Vandana Shashi
Rebecca C Spillmann
Nicholas Stong
Jill A Rosenfeld
Mary Kay Koenig
Julián A Martínez-Agosto
Matthew Herzog
Agnes H Chen
Patricia I Dickson
Henry J Lin
Moin U Vera
Noriko Salamon
John M Graham
Damara Ortiz
Elena Infante
Wouter Steyaert
Bart Dermaut
Bruce Poppe
Hyung-Lok Chung
Zhongyuan Zuo
Pei-Tseng Lee
Oguz Kanca
Fan Xia
Yaping Yang
Edward C Smith
Joan Jasien
Sujay Kansagra
Gail Spiridigliozzi
Mays El-Dairi
Robert Lark
Kacie Riley
Dwight D Koeberl
Katie Golden-Grant
Program for Undiagnosed Diseases (UD-PrOZA)
Undiagnosed Diseases Network
Shinya Yamamoto
Michael F Wangler
Ghayda Mirzaa
Dimitri Hemelsoet
Brendan Lee
Stanley F Nelson
David B Goldstein
Hugo J Bellen
Loren D M Pena

Funding

Transposon induced disruption of most Drosophila genesR01GM067858 · NIGMS · BAYLOR COLLEGE OF MEDICINE · PI BELLEN, HUGO J · 2003 to 2020
$15.7M
An integrated and diverse genomic medicine program for undiagnosed diseasesU01HG007672 · NHGRI · DUKE UNIVERSITY · PI SHASHI, VANDANA · 2014 to 2022
$13.4M
UCLA clinical site for the investigation of undiagnosed disordersU01HG007703 · NHGRI · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI MARTINEZ-AGOSTO, JULIAN, NELSON, STANLEY F. · 2014 to 2022
$10.1M
Steps towards a paternal gene activation therapy for Angelman syndromeU54HD083092 · NICHD · BAYLOR COLLEGE OF MEDICINE · PI NELSON, DAVID LOREN, SAMACO, RODNEY C · 2014 to 2019
$7.8M
Zebrafish CoreU54NS093793 · NINDS · BAYLOR COLLEGE OF MEDICINE · PI BELLEN, HUGO J · 2015 to 2022
$7.5M
Expansion and characterization of the Drosophila Toolkit to study SARS-CoV-2R24OD022005 · OD · BAYLOR COLLEGE OF MEDICINE · PI BELLEN, HUGO J · 2016 to 2023
$7.4M
Genomic medicine and gene function implementation for an underserved populationR01HG011795 · NHGRI · BAYLOR COLLEGE OF MEDICINE · PI BELLEN, HUGO J, WANGLER, MICHAEL FRANCIS · 2021 to 2025
$4.8M
Genes and pathways underlying brain overgrowth and focal cortical malformationsK08NS092898 · NINDS · SEATTLE CHILDREN'S HOSPITAL · PI MIRZAA, GHAYDA · 2015 to 2019
$930k
NHGRI NIH HHS R01 HG011795NHGRI NIH HHS U01 HG007672NHGRI NIH HHS U01 HG007703NICHD NIH HHS U54 HD083092NIGMS NIH HHS R01 GM067858NIH HHS R24 OD022005NINDS NIH HHS K08 NS092898NINDS NIH HHS U54 NS093793
6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Identifiers

PMID30193138
PMCPMC6128320

What OpenQuestion holds

Textmetadata
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.