ArticleScience advances2025
CEP76 impairment at the centrosome-cilium interface contributes to a spectrum of ciliopathies.
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Article in Science advances, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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2citing papers in PubMed
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Who cites it
2 citing papers in PubMed.
- Dynamic centrosomes: functional diversity and remodeling across cell types.Acta pharmacologica Sinica · 2026Review
- A novel phenotype-guided genome analysis pipeline for variant discovery.NPJ genomic medicine · 2026Article
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Authors and funding
30 authors.
Kamal KhanStanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA.ORCID 0000-0002-7624-0524
Erika TavaresGenetics and Genome Biology, The Hospital for Sick Children, Toronto, Canada.ORCID 0000-0002-5714-1766
Katherine BisharaStanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA.
Aysegul OzanturkCenter for Human Disease Modeling, Duke University Medical Center, Durham, NC, USA.
Leila QebiboMalformations and Cerebellar Congenital Diseases Reference Center, Sorbonne Université, Hôpital Trousseau, Paris, France.
Stephan FrangakisCenter for Human Disease Modeling, Duke University Medical Center, Durham, NC, USA.ORCID 0000-0001-9659-5114
Daniel G CalameSection of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.ORCID 0000-0001-6860-372X
Isabelle MeunierInstitute for Neurosciences of Montpellier (INM), Univ. Montpellier, INSERM, Montpellier, France.ORCID 0000-0003-3407-5265
Béatrice BocquetInstitute for Neurosciences of Montpellier (INM), Univ. Montpellier, INSERM, Montpellier, France.ORCID 0000-0002-6369-4818
Rafal PloskiDepartment of Medical Genetics, Medical University of Warsaw, Warsaw Poland.ORCID 0000-0001-6286-5526
Mohammad Ayman Al KhateebWomen's Wellness Research Center and Neonatal Intensive Care Unit, Hamad Medical Corporation, Weill Cornell Medicine, Doha, Qatar.
Dana MarafiDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Luke MansardMolecular Genetics Laboratory, University of Montpellier, Montpellier University Hospital, Montpellier, France.ORCID 0000-0003-0449-0994
Lena DamajDepartment of Clinical Genetics, Competence Center of Inherited Metabolic Disorders, Rennes Hospital, Rennes, France.
Richard A LewisTexas Children's Hospital, Houston, TX, USA.ORCID 0000-0002-6644-6385
Farid UllahStanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA.ORCID 0000-0001-8108-8347
Thomas ArbogastStanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA.
Jackson P OgdenStanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA.ORCID 0009-0004-2246-9966
Madeleine HarionMalformations and Cerebellar Congenital Diseases Reference Center, Sorbonne Université, Hôpital Trousseau, Paris, France.
Marjolaine WillemsInstitute for Neurosciences of Montpellier (INM), Univ. Montpellier, INSERM, Montpellier, France.ORCID 0000-0002-2959-0935
Maha S ZakiDepartment of Clinical Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.ORCID 0000-0001-7840-0002
Tobias BartolomaeusInstitute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.ORCID 0000-0002-5406-0776
Anne-Françoise RouxMolecular Genetics Laboratory, University of Montpellier, Montpellier University Hospital, Montpellier, France.ORCID 0000-0001-5914-2335
James R LupskiTexas Children's Hospital, Houston, TX, USA.ORCID 0000-0001-9907-9246
Malgorzata RydzaniczDepartment of Medical Genetics, Medical University of Warsaw, Warsaw Poland.ORCID 0000-0002-6969-0535
Rami Abou JamraInstitute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.ORCID 0000-0002-1542-1399
Francis RamondAuragen Laboratory, Plan France Medecine Genomique 2025, Lyon, France.ORCID 0000-0003-4540-8096
Elise HeonGenetics and Genome Biology, The Hospital for Sick Children, Toronto, Canada.ORCID 0000-0003-4143-9311
Lydie BurglenPediatric Molecular Neurogenetics Laboratory, Genetics Department, AP-HP, Sorbonne Université, Hôpital Trousseau, Paris, France.
Erica E DavisStanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA.ORCID 0000-0002-2412-8397
Funding
Tumor Environment and Metastasis (TEAM) Research ProgramP30CA060553 · NCI · NORTHWESTERN UNIVERSITY AT CHICAGO · PI Devalingam Mahalingam · 1993 to 2026
$153.9MFrequency of variants of unknown significance by ancestry groups in the All of Us Research Program cohortU01HG011758 · NHGRI · BAYLOR COLLEGE OF MEDICINE · PI RICHARD A GIBBS, JAMES R. LUPSKI · 2021 to 2026
$13.8MTR&D 7: Cell Specific ProteomicsP41GM108569 · NIGMS · NORTHWESTERN UNIVERSITY · PI KELLEHER, NEIL L · 2015 to 2024
$13.6MMolecular Genetics of BBSR01HD042601 · NICHD · LURIE CHILDREN'S HOSPITAL OF CHICAGO · PI DAVIS, ERICA ELLEN · 2003 to 2023
$8.2MGenetic and Functional Studies of Human Ciliary SyndromesR01DK072301 · NIDDK · LURIE CHILDREN'S HOSPITAL OF CHICAGO · PI DAVIS, ERICA ELLEN · 2005 to 2022
$7.2MSTRUCTURAL VARIATION IN NEUROLOGICAL DISEASER35NS105078 · NINDS · BAYLOR COLLEGE OF MEDICINE · PI LUPSKI, JAMES R. · 2018 to 2025
$6.0MAcquisition of a Thermo Fisher Scientific Q Exactive UHMR mass spectrometerS10OD025194 · OD · NORTHWESTERN UNIVERSITY · PI COMPTON, PHILIP DANIEL · 2018 to 2018
$795kNCI NIH HHS P30 CA060553NHGRI NIH HHS U01 HG011758NICHD NIH HHS R01 HD042601NIDDK NIH HHS R01 DK072301NIGMS NIH HHS P41 GM108569NIH HHS S10 OD025194NINDS NIH HHS R35 NS105078
Abstract
Dysfunction at the centrosome-cilium interface underlies a broad range of ciliopathies. Here, we identify biallelic variants in
Indexed as
CentrosomeCiliaCiliopathiesMicrotubule-Associated ProteinsAnimalsCell Cycle ProteinsFemaleFibroblastsHumansMaleMutationZebrafishZebrafish ProteinsCell Cycle ProteinsMicrotubule-Associated ProteinsZebrafish Proteins
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Read underepoch 390
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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.