Evidence map›Paper›PMID 31095607›Full record

ArticlePloS one2019

CiliaCarta: An integrated and validated compendium of ciliary genes.

Teunis J P van Dam, Julie Kennedy, Robin van der Lee, Erik de Vrieze, Kirsten A Wunderlich, Suzanne Rix, Gerard W Dougherty, Nils J Lambacher, Chunmei Li, Victor L Jensen and 38 more

Abstract read
In one paragraph

Article in PloS one, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 104 papers.

0numbers the graph read from it
0cells of the map it votes in
104citing 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

104 citing papers in PubMed.

  1. Primary cilia: sensors of biliary homeostasis and disease.Nature reviews. Gastroenterology & hepatology · 2026
    Review
  2. Article
  3. Science advances · 2026
    Article
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  5. Review
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44 more citing papers are in PubMed but not listed here.

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

48 authors.

Teunis J P van DamCentre for Molecular and Biomolecular Informatics, Radboud University Medical Center, Nijmegen, the Netherlands.ORCID 0000-0002-8122-190X
Julie KennedySchool of Biomolecular and Biomedical Science, University College Dublin, Belfield, Dublin, Ireland.
Robin van der LeeCentre for Molecular and Biomolecular Informatics, Radboud University Medical Center, Nijmegen, the Netherlands.
Erik de VriezeDepartment of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, the Netherlands.
Kirsten A WunderlichMolecular Cell Biology, Institute of Molecular Physiology, Johannes Gutenberg University of Mainz, Mainz, Germany.ORCID 0000-0002-4927-1851
Suzanne RixGreat Ormond Street Institute of Child Health, University College London, London, United Kingdom.
Gerard W DoughertyDepartment of General Pediatrics, University Hospital Muenster, Muenster, Germany.
Nils J LambacherSchool of Biomolecular and Biomedical Science, University College Dublin, Belfield, Dublin, Ireland.
Chunmei LiDepartment of Molecular Biology and Biochemistry and Centre for Cell Biology, Development and Disease, Simon Fraser University, Burnaby, British Columbia, Canada.
Victor L JensenDepartment of Molecular Biology and Biochemistry and Centre for Cell Biology, Development and Disease, Simon Fraser University, Burnaby, British Columbia, Canada.
Michel R LerouxDepartment of Molecular Biology and Biochemistry and Centre for Cell Biology, Development and Disease, Simon Fraser University, Burnaby, British Columbia, Canada.
Rim HjeijDepartment of General Pediatrics, University Hospital Muenster, Muenster, Germany.
Nicola HornMedical Proteome Center, Institute for Ophthalmic Research, University of Tuebingen, Tuebingen, Germany.
Yves TexierMedical Proteome Center, Institute for Ophthalmic Research, University of Tuebingen, Tuebingen, Germany.ORCID 0000-0002-1385-684X
Yasmin WissingerMedical Proteome Center, Institute for Ophthalmic Research, University of Tuebingen, Tuebingen, Germany.
Jeroen van ReeuwijkDepartment of Human Genetics and Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, the Netherlands.ORCID 0000-0002-0658-4399
Gabrielle WhewaySection of Ophthalmology & Neurosciences, Leeds Institute of Molecular Medicine, University of Leeds, Leeds, United Kingdom.ORCID 0000-0002-0494-0783
Barbara KnappMolecular Cell Biology, Institute of Molecular Physiology, Johannes Gutenberg University of Mainz, Mainz, Germany.
Jan F ScheelMolecular Cell Biology, Institute of Molecular Physiology, Johannes Gutenberg University of Mainz, Mainz, Germany.
Brunella FrancoTelethon Institute of Genetics and Medicine (TIGEM), Naples, Italy.ORCID 0000-0001-5588-4569
Dorus A MansDepartment of Human Genetics and Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, the Netherlands.
Erwin van WijkDepartment of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, the Netherlands.ORCID 0000-0002-5702-3460
François KépèsInstitute of Systems and Synthetic Biology (iSSB), Genopole, CNRS, Univ. Evry, France.ORCID 0000-0001-5766-4957
Gisela G SlaatsDept. Nephrology and Hypertension, Regenerative Medicine Center, University Medical Center Utrecht, Utrecht, the Netherlands.ORCID 0000-0002-4567-0134
Grischa ToedtStructural and Computational Biology Unit, European Molecular Biology Laboratory, Heidelberg, Germany.
Hannie KremerDepartment of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, the Netherlands.
Heymut OmranDepartment of General Pediatrics, University Hospital Muenster, Muenster, Germany.
Katarzyna SzymanskaSection of Ophthalmology & Neurosciences, Leeds Institute of Molecular Medicine, University of Leeds, Leeds, United Kingdom.
Konstantinos KoutroumpasInstitute of Systems and Synthetic Biology (iSSB), Genopole, CNRS, Univ. Evry, France.
Marius UeffingMedical Proteome Center, Institute for Ophthalmic Research, University of Tuebingen, Tuebingen, Germany.
Thanh-Minh T NguyenDepartment of Human Genetics and Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, the Netherlands.
Stef J F LetteboerDepartment of Human Genetics and Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, the Netherlands.
Machteld M OudDepartment of Human Genetics and Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, the Netherlands.ORCID 0000-0003-4864-9346
Sylvia E C van BeersumDepartment of Human Genetics and Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, the Netherlands.
Miriam SchmidtsDepartment of Human Genetics and Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, the Netherlands.
Philip L BealesGreat Ormond Street Institute of Child Health, University College London, London, United Kingdom.
Qianhao LuBiochemie Zentrum Heidelberg (BZH), Heidelberg University, Heidelberg, Germany.
Rachel H GilesDept. Nephrology and Hypertension, Regenerative Medicine Center, University Medical Center Utrecht, Utrecht, the Netherlands.
Radek SzklarczykCentre for Molecular and Biomolecular Informatics, Radboud University Medical Center, Nijmegen, the Netherlands.
Robert B RussellBiochemie Zentrum Heidelberg (BZH), Heidelberg University, Heidelberg, Germany.ORCID 0000-0002-7213-1398
Toby J GibsonStructural and Computational Biology Unit, European Molecular Biology Laboratory, Heidelberg, Germany.
Colin A JohnsonSection of Ophthalmology & Neurosciences, Leeds Institute of Molecular Medicine, University of Leeds, Leeds, United Kingdom.ORCID 0000-0002-2979-8234
Oliver E BlacqueSchool of Biomolecular and Biomedical Science, University College Dublin, Belfield, Dublin, Ireland.ORCID 0000-0003-1598-2695
Uwe WolfrumMolecular Cell Biology, Institute of Molecular Physiology, Johannes Gutenberg University of Mainz, Mainz, Germany.
Karsten BoldtMedical Proteome Center, Institute for Ophthalmic Research, University of Tuebingen, Tuebingen, Germany.
Ronald RoepmanDepartment of Human Genetics and Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, the Netherlands.
Victor Hernandez-HernandezGreat Ormond Street Institute of Child Health, University College London, London, United Kingdom.ORCID 0000-0002-4424-1848
Martijn A HuynenCentre for Molecular and Biomolecular Informatics, Radboud University Medical Center, Nijmegen, the Netherlands.

Funding

CIHR MOP-142243CIHR MOP-82870CIHR PJT-156042Department of HealthMedical Research Council MR/M000532/1
6 · The paper itself

Abstract

The cilium is an essential organelle at the surface of mammalian cells whose dysfunction causes a wide range of genetic diseases collectively called ciliopathies. The current rate at which new ciliopathy genes are identified suggests that many ciliary components remain undiscovered. We generated and rigorously analyzed genomic, proteomic, transcriptomic and evolutionary data and systematically integrated these using Bayesian statistics into a predictive score for ciliary function. This resulted in 285 candidate ciliary genes. We generated independent experimental evidence of ciliary associations for 24 out of 36 analyzed candidate proteins using multiple cell and animal model systems (mouse, zebrafish and nematode) and techniques. For example, we show that OSCP1, which has previously been implicated in two distinct non-ciliary processes, causes ciliogenic and ciliopathy-associated tissue phenotypes when depleted in zebrafish. The candidate list forms the basis of CiliaCarta, a comprehensive ciliary compendium covering 956 genes. The resource can be used to objectively prioritize candidate genes in whole exome or genome sequencing of ciliopathy patients and can be accessed at http://bioinformatics.bio.uu.nl/john/syscilia/ciliacarta/.

Indexed as

GenomicsAnimalsBayes TheoremCaenorhabditis elegansCiliaMolecular Sequence AnnotationPhenotypeReproducibility of ResultsSensory Receptor CellsZebrafish

Identifiers

PMID31095607
PMCPMC6522010

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