ArticleNPJ genomic medicine2024
Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies.
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In one paragraph
Article in NPJ genomic medicine, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed
0.6field-weighted citation impact, top 35% of its field
What it found
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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.
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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.
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Who cites it
7 citing papers in PubMed, 2 citations in OpenAlex.
- Review
- Genetics of CAKUT.Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2026Article
- Telethon Undiagnosed Disease Program: Structured approach to solving rare childhood-onset genetic diseases.Genetics in medicine open · 2026Article
- Adhesion G-Protein Coupled Receptors in Neurological and Psychiatric Disorders.Journal of psychiatry and brain science · 2025Article
- GREGoR: accelerating genomics for rare diseases.Nature · 2025Article
- GREGoR: Accelerating Genomics for Rare Diseases.ArXiv · 2024Article
- Identification of a DNA methylation episignature for recurrent constellations of embryonic malformations.American journal of human genetics · 2024Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
72 authors at 20 institutions in 11 countries.
Jil D Stegmann *Institute of Human Genetics, Medical Faculty, University of Bonn, Bonn, 53127, Germany. jil.stegmann@uni-bonn.de.ORCID http://orcid.org/0000-0002-1287-0308
Jeshurun C Kalanithy *Institute of Human Genetics, Medical Faculty, University of Bonn, Bonn, 53127, Germany.
Gabriel C DworschakInstitute of Human Genetics, Medical Faculty, University of Bonn, Bonn, 53127, Germany.
Nina IshorstInstitute of Human Genetics, Medical Faculty, University of Bonn, Bonn, 53127, Germany.ORCID http://orcid.org/0000-0001-9836-554X
Enrico MingardoInstitute of Anatomy and Cell Biology, Medical Faculty, University of Bonn, Bonn, 53115, Germany.
Filipa M LopesDivision of Cell Matrix Biology and Regenerative Medicine, School of Biological Sciences, Faculty of Biology Medicine and Health, University of Manchester, Manchester, UK.
Yee Mang HoDivision of Cell Matrix Biology and Regenerative Medicine, School of Biological Sciences, Faculty of Biology Medicine and Health, University of Manchester, Manchester, UK.
Phillip GroteGeorg-Speyer-Haus, Institute for Tumor Biology and Experimental Therapy, 60596, Frankfurt am Main, Germany.ORCID http://orcid.org/0000-0002-9254-1458
Tobias T LindenbergInstitute of Neuroanatomy, Medical Faculty, University of Bonn, Bonn, 53115, Germany.
Öznur YilmazInstitute of Neuroanatomy, Medical Faculty, University of Bonn, Bonn, 53115, Germany.
Khadija ChannabInstitute of Anatomy and Cell Biology, Medical Faculty, University of Bonn, Bonn, 53115, Germany.
Steve SeltzsamDivision of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
Shirlee ShrilDivision of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
Friedhelm HildebrandtDivision of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
Felix BoschannInstitute of Medical Genetics and Human Genetics, Charité Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany.
André HeinenDepartment of Pediatrics, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.
Angad JollyDepartment of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.
Katherine MyersCenter for Cardiovascular Research, Nationwide Children's Hospital, Department of Pediatrics, Ohio State University, Columbus, OH, USA.
Kim McBrideCenter for Cardiovascular Research, Nationwide Children's Hospital, Department of Pediatrics, Ohio State University, Columbus, OH, USA.
Mir Reza BekheirniaDepartment of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.
Nasim BekheirniaDepartment of Pediatrics, Renal Service, Texas Children's Hospital, Houston, TX, 77030, USA.
Marcello ScalaDepartment of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, 16132, Genoa, Italy.
Manuela MorleoMedical Genetics, Department of Precision Medicine, Università degli Studi della Campania 'Luigi Vanvitelli', via Luigi De Crecchio 7, 80138, Naples, Italy.
Vincenzo NigroMedical Genetics, Department of Precision Medicine, Università degli Studi della Campania 'Luigi Vanvitelli', via Luigi De Crecchio 7, 80138, Naples, Italy.
Annalaura TorellaMedical Genetics, Department of Precision Medicine, Università degli Studi della Campania 'Luigi Vanvitelli', via Luigi De Crecchio 7, 80138, Naples, Italy.
TUDP consortium
Michele PinelliTelethon Institute of Genetics and Medicine, Pozzuoli, Naples, Italy.
Valeria CapraGenomics and Clinical Genetics, IRCCS Gaslini, Genoa, Italy.
Andrea AccogliDivision of Medical Genetics, Department of Specialized Medicine, McGill University, Montreal, QC, Canada.
Silvia MaitzMedical Genetics Service, Oncology Department of Southern Switzerland, Ente Ospedaliero Cantonale, Lugano, Switzerland.
Alice SpanoMBBM Foundation, Monza, Italy.
Rory J OlsonCenter for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.
Eric W KleeCenter for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.ORCID http://orcid.org/0000-0003-2946-5795
Brendan C LanpherCenter for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.
Se Song JangDepartment of Pediatrics, Seoul National University College of Medicine, Seoul, Republic of Korea.
Jong-Hee ChaeDepartment of Pediatrics, Seoul National University College of Medicine, Seoul, Republic of Korea.
Philipp SteinbauerDivision of Neonatology, Pediatric Intensive Care and Neuropediatrics, Comprehensive Center for Pediatrics, Medical University of Vienna, Vienna, Austria.
Dietmar RiederDivision of Bioinformatics, Medical University of Innsbruck, 6020, Innsbruck, Austria.
Andreas R JaneckeDepartment of Pediatrics I, Medical University of Innsbruck, 6020, Innsbruck, Austria.
Julia VodopiutzDepartment of Pediatrics and Adolescent Medicine, Division of Pediatric Pulmonology, Allergology and Endocrinology, Comprehensive Center for Pediatrics, Medical University of Vienna, 1090, Vienna, Austria.
Ida VogelDepartment of Clinical Medicine, Aarhus University, Aarhus, Denmark.ORCID http://orcid.org/0000-0002-1125-0393
Jenny BlechingbergDepartment of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark.ORCID http://orcid.org/0000-0002-4110-7459
Jennifer L CohenDivision of Medical Genetics, Department of Pediatrics, Duke University, Durham, NC, USA.
Kacie RileyDepartment of Pediatrics, Duke University Medical Center, Durham, NC, USA.
Victoria KleePediatric Neurology, Riley Hospital for Children Indiana University Health, Indianapolis, IN, USA.
Laurence E WalshPediatric Neurology, Riley Hospital for Children Indiana University Health, Indianapolis, IN, USA.
Matthias BegemannInstitute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, Germany.ORCID http://orcid.org/0000-0002-4659-8437
Miriam ElbrachtInstitute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, Germany.
Thomas EggermannInstitute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, Germany.ORCID http://orcid.org/0000-0002-8419-0264
Arzu StoppeDivision of Neuropediatrics and Social Pediatrics, Department of Pediatrics, Medical Faculty, RWTH Aachen University, 52074, Aachen, Germany.
Kyra StuurmanDepartment of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.
Marjon van SlegtenhorstDepartment of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.
Tahsin Stefan BarakatDepartment of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.ORCID http://orcid.org/0000-0003-1231-1562
Maureen S MulhernDepartment of Neurology, Columbia University Vagelos College of Physicians and Surgeons, New York, NY, USA.
Tristan T SandsDivision of Child Neurology, Department of Neurology, Columbia University Vagelos College of Physicians and Surgeons and NewYork-Presbyterian Morgan Stanley Children's Hospital, New York, NY, USA.
Cheryl CytrynbaumDepartment of Genetic Counselling, The Hospital for Sick Children, Toronto, ON, M5G 1X8, Canada.ORCID http://orcid.org/0000-0002-3742-1250
Rosanna WeksbergDepartment of Molecular Genetics, University of Toronto, Toronto, ON, M5S 1A1, Canada.ORCID http://orcid.org/0000-0002-6501-4150
Federica IsidoriU.O. Genetica Medica, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy.
Tommaso PippucciU.O. Genetica Medica, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy.
Giulia SeveriU.O. Genetica Medica, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy.ORCID http://orcid.org/0000-0001-8184-865X
Francesca MontanariU.O. Genetica Medica, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy.
Michael C KruerPediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA.ORCID http://orcid.org/0000-0002-1373-7891
Somayeh BakhtiariPediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA.
Hossein DarvishNeuroscience Research Center, Faculty of Medicine, Golestan University of Medical Sciences, Gorgan, Iran.
Heiko ReutterInstitute of Human Genetics, Medical Faculty, University of Bonn, Bonn, 53127, Germany.ORCID http://orcid.org/0000-0002-3591-5265
Gregor HageluekenInstitute of Structural Biology, University Hospital Bonn, University of Bonn, Venusberg-Campus 1, 53127, Bonn, Germany.
Matthias GeyerInstitute of Structural Biology, University Hospital Bonn, University of Bonn, Venusberg-Campus 1, 53127, Bonn, Germany.
Adrian S WoolfDivision of Cell Matrix Biology and Regenerative Medicine, School of Biological Sciences, Faculty of Biology Medicine and Health, University of Manchester, Manchester, UK.ORCID http://orcid.org/0000-0001-5541-1358
Jennifer E PoseyDepartment of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.ORCID http://orcid.org/0000-0003-4814-6765
James R LupskiDepartment of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.ORCID http://orcid.org/0000-0001-9907-9246
Benjamin OdermattInstitute of Anatomy and Cell Biology, Medical Faculty, University of Bonn, Bonn, 53115, Germany.ORCID http://orcid.org/0000-0002-9361-2772
Alina C HilgerDepartment of Pediatric and Adolescent Medicine, Friedrich-Alexander University of Erlangen-Nürnberg, Erlangen, 91054, Germany. alina.hilger@uk-erlangen.de.ORCID http://orcid.org/0000-0002-0354-7584
University of Bonn · DEBaylor College of Medicine · USMedica (Italy) · ITRWTH Aachen University · DEBoston Children's Hospital · USErasmus MC · NLMayo Clinic · USUniversity of Campania "Luigi Vanvitelli" · ITBarrow Neurological Institute · USIndiana University Health · USInnsbruck Medical University · ATIstituto Giannina Gaslini · ITMedical University of Vienna · ATNationwide Children's Hospital · USSeoul National University · KRUniversity of Manchester · GBUniversity of Toronto · CAAarhus University · DKAarhus University Hospital · DKColumbia University · US
Funding
Baylor-Johns Hopkins Center for Mendelian GeneticsUM1HG006542 · NHGRI · JOHNS HOPKINS UNIVERSITY · PI VALLE, DAVID · 2016 to 2020
$14.5MFrequency 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
$13.8MYale Center for Mendelian DisordersU54HG006504 · NHGRI · YALE UNIVERSITY · PI GERSTEIN, MARK BENDER, GUNEL, MURAT · 2012 to 2015
$11.0MSTRUCTURAL VARIATION IN NEUROLOGICAL DISEASER35NS105078 · NINDS · BAYLOR COLLEGE OF MEDICINE · PI LUPSKI, JAMES R. · 2018 to 2025
$6.0MIdentification and function of new genes causing childhood nephrotic syndromeR01DK076683 · NIDDK · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI HILDEBRANDT, FRIEDHELM · 2007 to 2021
$5.3MGenomic Insights into the Neurobiology of Cerebral PalsyR01NS106298 · NINDS · UNIVERSITY OF ARIZONA · PI KRUER, MICHAEL C · 2019 to 2023
$3.7MGenomic analysis of the Multiplex, Autozygous Populations in Cerebral Palsy (MAP CP) cohort: a focused approach to a complex diseaseR01NS127108 · NINDS · UNIVERSITY OF ARIZONA · PI Michael C Kruer · 2023 to 2026
$2.6MIndividual genomic analyses to discover the molecular basis and mechanisms contributing to adult-onset diseaseK08HG008986 · NHGRI · BAYLOR COLLEGE OF MEDICINE · PI POSEY, JENNIFER ELLEN · 2017 to 2021
$831kMedical Research Council MR/T016809/1NHGRI NIH HHS K08 HG008986NHGRI NIH HHS U01 HG011758NHGRI NIH HHS U54 HG006504NHGRI NIH HHS UM1 HG006542NIDDK NIH HHS R01 DK076683NINDS NIH HHS R01 NS106298NINDS NIH HHS R01 NS127108NINDS NIH HHS R35 NS105078
Abstract
CELSR3 codes for a planar cell polarity protein. We describe twelve affected individuals from eleven independent families with bi-allelic variants in CELSR3. Affected individuals presented with an overlapping phenotypic spectrum comprising central nervous system (CNS) anomalies (7/12), combined CNS anomalies and congenital anomalies of the kidneys and urinary tract (CAKUT) (3/12) and CAKUT only (2/12). Computational simulation of the 3D protein structure suggests the position of the identified variants to be implicated in penetrance and phenotype expression. CELSR3 immunolocalization in human embryonic urinary tract and transient suppression and rescue experiments of Celsr3 in fluorescent zebrafish reporter lines further support an embryonic role of CELSR3 in CNS and urinary tract formation.
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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 Socratic graph.