Evidence map›Paper›PMID 41809564›Full record

ArticleHuman mutation2026

Recognition of a Critical Functional Domain and Improved

Andy Drackley, Andrew D Skol, Casey M Rand, Debra E Weese-Mayer, Kai Lee Yap

Abstract read
In one paragraph

Article in Human mutation, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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.

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

1 citing paper in PubMed.

  1. 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

5 authors.

Andy DrackleyDepartment of Pathology & Laboratory Medicine, Molecular Diagnostics Laboratory, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA, luriechildrens.org.ORCID https://orcid.org/0000-0003-1822-1728
Andrew D SkolDepartment of Pathology & Laboratory Medicine, Molecular Diagnostics Laboratory, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA, luriechildrens.org.ORCID https://orcid.org/0009-0005-7530-8127
Casey M RandStanley Manne Children's Research Institute, Chicago, Illinois, USA.ORCID https://orcid.org/0000-0003-1077-8978
Debra E Weese-MayerDepartment of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA, northwestern.edu.ORCID https://orcid.org/0000-0001-6061-220X
Kai Lee YapDepartment of Pathology & Laboratory Medicine, Molecular Diagnostics Laboratory, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA, luriechildrens.org.ORCID https://orcid.org/0000-0003-4496-5464

Funding

PHOX2B Congenital Central Hypoventilation Syndrome (CCHS) Physiologic Signatures in Readiness for Future Clinical TrialsR03TR003869 · NCATS · LURIE CHILDREN'S HOSPITAL OF CHICAGO · PI WEESE-MAYER, DEBRA ELLYN · 2022 to 2023
$155k
NCATS NIH HHS R03 TR003869
6 · The paper itself

Abstract

Pathogenic heterozygous variants in

Indexed as

Computational BiologyHomeodomain ProteinsHypoventilationMutation, MissenseSleep Apnea, CentralTranscription FactorsComputer SimulationHumansProtein DomainsHomeodomain ProteinsNBPhox proteinTranscription FactorsAlphaMissenseBayesDelCADDCCHScongenital central hypoventilation syndromehomeodomainin silico predictionsPHOX2BREVELvariant interpretation

Identifiers

PMID41809564
PMCPMC12968325

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.