Evidence map›Paper›PMID 41002425›Full record

ArticleCells2025

ODAD4-Related Primary Ciliary Dyskinesia: Report of Five Cases and a Founder Variant in Quebec.

Marie-Hélène Bourassa, Guillaume Sillon, Shuizi Ding, Maurizio Chioccioli, Monkol Lek, Kaiyue Ma, Alejandro Mejia-Garcia, Simon Gravel, Donald C Vinh, Michael R Knowles and 14 more

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Cells, 2025. 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

24 authors.

Marie-Hélène BourassaDepartment of Pediatrics, McGill University, Montreal, QC H4A 3J1, Canada.
Guillaume SillonDivision of Medical Genetics, Department of Medicine, McGill University Health Center, Montreal, QC H4A 0B1, Canada.ORCID 0000-0001-9573-1209
Shuizi DingSection of Pulmonary, Critical Care and Sleep Medicine, Yale University School of Medicine, New Haven, CT 06510, USA.
Maurizio ChioccioliSection of Pulmonary, Critical Care and Sleep Medicine, Yale University School of Medicine, New Haven, CT 06510, USA.
Monkol LekDepartment of Genetics, Yale University School of Medicine, New Haven, CT 06510, USA.
Kaiyue MaDepartment of Genetics, Yale University School of Medicine, New Haven, CT 06510, USA.ORCID 0009-0001-4302-3371
Alejandro Mejia-GarciaDepartment of Human Genetics, McGill University, Montreal, QC H4A 3J1, Canada.
Simon GravelDepartment of Human Genetics, McGill University, Montreal, QC H4A 3J1, Canada.
Donald C VinhDivision of Infectious Diseases, Department of Medicine, Research Institute of the McGill University Health Centre, Montreal, QC H4A 3J1, Canada.ORCID 0000-0003-1347-7767
Michael R KnowlesDepartment of Medicine, School of Medicine, University of North Carolina, Chapel Hill, NC 27599, USA.
Margaret W LeighDepartment of Pediatrics, School of Medicine, University of North Carolina, Chapel Hill, NC 27599, USA.
Stephanie D DavisDepartment of Pediatrics, School of Medicine, University of North Carolina, Chapel Hill, NC 27599, USA.
Thomas FerkolDepartment of Pediatrics, School of Medicine, University of North Carolina, Chapel Hill, NC 27599, USA.
Kenneth N OlivierDepartment of Medicine, School of Medicine, University of North Carolina, Chapel Hill, NC 27599, USA.
Elizabeth N SchectermanDepartment of Pediatrics, School of Medicine, University of North Carolina, Chapel Hill, NC 27599, USA.
Weining YinMarsico Lung Institute, Cystic Fibrosis Research Center, University of North Carolina, Chapel Hill, NC 27599, USA.
Patrick R SearsMarsico Lung Institute, Cystic Fibrosis Research Center, University of North Carolina, Chapel Hill, NC 27599, USA.
Martina GentzschMarsico Lung Institute, Cystic Fibrosis Research Center, University of North Carolina, Chapel Hill, NC 27599, USA.ORCID 0000-0002-9435-0321
Susan E BoylesMarsico Lung Institute, Cystic Fibrosis Research Center, University of North Carolina, Chapel Hill, NC 27599, USA.
William D BennettCenter for Environmental Medicine, Asthma, and Lung Biology, University of North Carolina, Chapel Hill, NC 27599, USA.
Kirby L ZemanCenter for Environmental Medicine, Asthma, and Lung Biology, University of North Carolina, Chapel Hill, NC 27599, USA.ORCID 0000-0003-2536-396X
Lawrence E OstrowskiMarsico Lung Institute, Cystic Fibrosis Research Center, University of North Carolina, Chapel Hill, NC 27599, USA.
Maimoona A ZariwalaMarsico Lung Institute, Cystic Fibrosis Research Center, University of North Carolina, Chapel Hill, NC 27599, USA.ORCID 0000-0003-1619-1393
Adam J ShapiroDepartment of Pediatrics, Research Institute of the McGill University Health Centre, Montreal, QC H4A 3J1, Canada.ORCID 0000-0001-6066-6750

Funding

The Impact of COVID-19 on People Living with Rare Diseases and Their FamiliesU2CTR002818 · NCATS · CINCINNATI CHILDRENS HOSP MED CTR · PI Maurizio Macaluso, Michael Wagner · 2019 to 2026
$51.2M
Vector CoreP30DK065988 · NIDDK · UNIV OF NORTH CAROLINA CHAPEL HILL · PI Scott H Randell · 2004 to 2026
$26.5M
Longitudinal Characterization of Respiratory Tract Exacerbations and Treatment Responses in Primary Ciliary DyskinesiaU54HL096458 · NHLBI · UNIV OF NORTH CAROLINA CHAPEL HILL · PI DAVIS, STEPHANIE DUGGINS · 2009 to 2023
$20.0M
Functional Studies of Novel Genes Mutated in Primary Ciliary Dyskinesia II: Genotype to PhenotypeR01HL117836 · NHLBI · UNIV OF NORTH CAROLINA CHAPEL HILL · PI OSTROWSKI, LAWRENCE E · 2013 to 2023
$4.4M
American Thoracic Society Unrestricted Grant: PulmonaryGenome Québec (Ministère de l'Économie, de l'Innovation et de l'Énergie), the Canadian Partnership Against Cancer and Health Canada CARTaGENE financial supportNational Center for Advancing Translational Sciences (NCATS) U54HL096458National Heart Lung and Blood Institute R01HL117836NCATS NIH HHS U2C TR002818NHLBI NIH HHS R01 HL117836NHLBI NIH HHS U54 HL096458NIDDK NIH HHS P30 DK065988Rare Diseases Clinical Research Network (RDCRN) U2CTR002818
6 · The paper itself

Abstract

Pathogenic variants in

Indexed as

Ciliary Motility DisordersFounder EffectKartagener SyndromeAdolescentAdultChildChild, PreschoolFemaleHumansMaleMutationPedigreePhenotypeQuebecYoung Adultfounder variantmild phenotypeODAD4primary ciliary dyskinesiaQuebec

Identifiers

PMID41002425
PMCPMC12468610

What OpenQuestion holds

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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.