ArticleNature genetics2020
Mutations disrupting neuritogenesis genes confer risk for cerebral palsy.
Erratum issuedOpen access · greenAbstract read
In one paragraph
Article in Nature genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 92 papers, 3 of them syntheses that pooled it.
0numbers the graph read from it
0cells of the map it votes in
92citing papers in PubMed, 3 pooled it
15.9field-weighted citation impact, top 1% of its field
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.
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.
Who cites it
92 citing papers in PubMed, 3 syntheses or guidelines pooled it, 172 citations in OpenAlex.
- A Systematic Review of Cognitive and Behavioural Symptoms in CTNNB1 Syndrome.Neuropsychology review · 2026Pooled it
- Correlation between Phenotype and Genotype in CTNNB1 Syndrome: A Systematic Review of the Literature.International journal of molecular sciences · 2022Pooled it
- Genomic findings in non-cryptogenic cerebral palsy: a systematic review and meta-analysis.Frontiers in neurologyPooled it
- Novel CTNNB1 Gene Variants in Spanish CTNNB1 Syndrome Patients: Clinical and Psychological Manifestations.Journal of autism and developmental disorders · 2026Article
- Standardizing early cerebral palsy detection in high-risk infants: reducing age at diagnosis through a quality improvement initiative.Journal of perinatology : official journal of the California Perinatal Association · 2026Article
- Data-Driven Insights into Hyperkinetic Disorders in Neurodevelopmental Syndromes and Epileptic Encephalopathies.Movement disorders clinical practice · 2026Review
- Integrating genome and RNA sequencing to enhance diagnostic precision in cerebral palsy.BMC pediatrics · 2026Article
- Testing the performance of polygenic scores for multiple traits to explain cerebral palsy in two independent cohorts.EBioMedicine · 2026Article
- Shared and distinct phenotypic profiles among neurodevelopmental disorder genes.medRxiv : the preprint server for health sciences · 2026Article
- Modeling cerebral palsy in animals.Developmental medicine and child neurology · 2026Review
- A Phenotypic Paradigm for Cerebral Palsy Genetics.medRxiv : the preprint server for health sciences · 2026Article
- Nonsense-mediated mRNA decay and associated splicing patterns in neurodevelopmental disorders.Frontiers in molecular biosciences · 2026Review
- Article
- Genetic diagnostic yield by MRI pattern in children with cerebral palsy: a population-based study.EBioMedicine · 2025Article
- Recessive genomic and phenotypic variation in consanguineous families with cerebral palsy.medRxiv : the preprint server for health sciences · 2025Article
- Investigating Pediatricians' Practice, Knowledge, and Barriers in Diagnosing Cerebral Palsy.Children (Basel, Switzerland) · 2025Article
- CTNNB1 syndrome mouse models.Mammalian genome : official journal of the International Mammalian Genome Society · 2025Review
- Precision medicine in the pediatric and neonatal intensive care units through genomics.Current opinion in pediatrics · 2025Review
- Signs of damage that drive protein degradation.Nature · 2025Article
- Genetic investigations in cerebral palsy.Developmental medicine and child neurology · 2025Review
32 more citing papers are in PubMed but not listed here.
Corrections and comments
- Erratum issued
Authors and funding
77 authors at 20 institutions in 8 countries.
Sheng Chih Jin *Department of Genetics, Yale University School of Medicine, New Haven, CT, USA.ORCID http://orcid.org/0000-0002-5777-7262
Sara A Lewis *Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA.ORCID http://orcid.org/0000-0003-2560-1681
Somayeh Bakhtiari *Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA.
Xue Zeng *Department of Genetics, Yale University School of Medicine, New Haven, CT, USA.ORCID http://orcid.org/0000-0002-6064-5340
Michael C SierantDepartment of Genetics, Yale University School of Medicine, New Haven, CT, USA.ORCID http://orcid.org/0000-0003-2052-3418
Sheetal ShettyPediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA.
Sandra M NordliePediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA.ORCID http://orcid.org/0000-0001-8095-2455
Aureliane EliePediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA.
Mark A CorbettRobinson Research Institute, The University of Adelaide, Adelaide, South Australia, Australia.ORCID http://orcid.org/0000-0001-9298-3072
Bethany Y NortonPediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA.
Clare L van EykRobinson Research Institute, The University of Adelaide, Adelaide, South Australia, Australia.ORCID http://orcid.org/0000-0003-0345-9944
Shozeb HaiderDepartment of Pharmaceutical and Biological Chemistry, UCL School of Pharmacy, London, UK.ORCID http://orcid.org/0000-0003-2650-2925
Brandon S GuidaPediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA.
Helen MageePediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA.
James LiuPediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA.
Stephen PastoreMolecular Brain Sciences, Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, ON, Canada.
John B VincentMolecular Brain Sciences, Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, ON, Canada.ORCID http://orcid.org/0000-0003-0692-2519
Janice Brunstrom-HernandezOne CP Place, Plano, TX, USA.
Antigone PapavasileiouDivision of Paediatric Neurology, Iaso Children's Hospital, Athens, Greece.ORCID http://orcid.org/0000-0002-1064-7954
Michael C FaheyDepartment of Pediatrics, Monash University, Melbourne, Victoria, Australia.ORCID http://orcid.org/0000-0003-0811-4785
Jesia G BerryRobinson Research Institute, The University of Adelaide, Adelaide, South Australia, Australia.ORCID http://orcid.org/0000-0002-4446-7927
Kelly HarperRobinson Research Institute, The University of Adelaide, Adelaide, South Australia, Australia.
Chongchen ZhouHenan Key Laboratory of Child Genetics and Metabolism, Rehabilitation Department, Children's Hospital of Zhengzhou University, Zhengzhou, China.
Junhui ZhangDepartment of Genetics, Yale University School of Medicine, New Haven, CT, USA.
Boyang LiDepartment of Biostatistics, Yale School of Public Health, New Haven, CT, USA.ORCID http://orcid.org/0000-0003-2808-9986
Hongyu ZhaoDepartment of Biostatistics, Yale School of Public Health, New Haven, CT, USA.
Jennifer HeimPediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA.
Dani L WebberRobinson Research Institute, The University of Adelaide, Adelaide, South Australia, Australia.
Mahalia S B FrankRobinson Research Institute, The University of Adelaide, Adelaide, South Australia, Australia.ORCID http://orcid.org/0000-0002-6668-4631
Lei XiaHenan Key Laboratory of Child Brain Injury, Third Affiliated Hospital of Zhengzhou University, Zhengzhou, China.
Yiran XuHenan Key Laboratory of Child Brain Injury, Third Affiliated Hospital of Zhengzhou University, Zhengzhou, China.ORCID http://orcid.org/0000-0002-9004-0377
Dengna ZhuHenan Key Laboratory of Child Brain Injury, Third Affiliated Hospital of Zhengzhou University, Zhengzhou, China.
Bohao ZhangHenan Key Laboratory of Child Brain Injury, Third Affiliated Hospital of Zhengzhou University, Zhengzhou, China.
Amar H ShethDepartment of Genetics, Yale University School of Medicine, New Haven, CT, USA.ORCID http://orcid.org/0000-0001-5002-5474
James R KnightYale Center for Genome Analysis, Yale University, New Haven, CT, USA.ORCID http://orcid.org/0000-0003-1166-0437
Christopher CastaldiYale Center for Genome Analysis, Yale University, New Haven, CT, USA.
Irina R TikhonovaYale Center for Genome Analysis, Yale University, New Haven, CT, USA.
Francesc López-GiráldezYale Center for Genome Analysis, Yale University, New Haven, CT, USA.ORCID http://orcid.org/0000-0001-7476-9822
Boris KerenDepartment of Genetics, Pitié-Salpêtrière Hospital, APHP.Sorbonne Université, Paris, France.
Sandra WhalenUF de Génétique Clinique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, APHP.Sorbonne Université, Hôpital Armand Trousseau, Paris, France.
Julien BurattiDepartment of Genetics, Pitié-Salpêtrière Hospital, APHP.Sorbonne Université, Paris, France.ORCID http://orcid.org/0000-0002-0901-0905
Diane DoummarSorbonne Université, APHP, Service de Neurologie Pédiatrique et Centre de Référence Neurogénétique, Hôpital Armand Trousseau, Paris, France.
Megan ChoGeneDx, Gaithersburg, MD, USA.
Kyle RettererGeneDx, Gaithersburg, MD, USA.
Francisca MillanGeneDx, Gaithersburg, MD, USA.
Yangong WangInstitute of Biomedical Science and Children's Hospital, and Key Laboratory of Reproduction Regulation of the National Population and Family Planning Commission (NPFPC), Shanghai Institute of Planned Parenthood Research (SIPPR), IRD, Fudan University, Shanghai, China.
Jeff L WaughDepartments of Pediatrics & Neurology, University of Texas Southwestern and Children's Medical Center of Dallas, Dallas, TX, USA.ORCID http://orcid.org/0000-0001-7526-1342
Lance RodanDepartments of Genetics & Genomics and Neurology, Boston Children's Hospital, Boston, MA, USA.
Julie S CohenDivision of Neurogenetics and Hugo W. Moser Research Institute, Kennedy Krieger Institute, Baltimore, MD, USA.ORCID http://orcid.org/0000-0003-1545-0293
Ali FatemiDivision of Neurogenetics and Hugo W. Moser Research Institute, Kennedy Krieger Institute, Baltimore, MD, USA.ORCID http://orcid.org/0000-0003-4116-6990
Angela E LinMedical Genetics, Department of Pediatrics, MassGeneral Hospital for Children, Boston, MA, USA.
John P PhillipsDepartments of Pediatrics and Neurology, University of New Mexico, Albuquerque, NM, USA.
Timothy FeymaDivision of Pediatric Neurology, Gillette Children's Hospital, St Paul, MN, USA.
Suzanna C MacLennanDepartment of Paediatric Neurology, Women's & Children's Hospital, Adelaide, South Australia, Australia.ORCID http://orcid.org/0000-0001-7148-7993
Spencer VaughanDepartments of Molecular & Cellular Biology and Neuroscience, University of Arizona, Tucson, AZ, USA.ORCID http://orcid.org/0000-0003-1662-2982
Kylie E CromptonMurdoch Children's Research Institute and University of Melbourne Department of Paediatrics, Royal Children's Hospital, Melbourne, Victoria, Australia.ORCID http://orcid.org/0000-0003-4496-7101
Susan M ReidMurdoch Children's Research Institute and University of Melbourne Department of Paediatrics, Royal Children's Hospital, Melbourne, Victoria, Australia.
Dinah S ReddihoughMurdoch Children's Research Institute and University of Melbourne Department of Paediatrics, Royal Children's Hospital, Melbourne, Victoria, Australia.ORCID http://orcid.org/0000-0003-3634-7906
Qing ShangHenan Key Laboratory of Child Genetics and Metabolism, Rehabilitation Department, Children's Hospital of Zhengzhou University, Zhengzhou, China.
Chao GaoRehabilitation Department, Children's Hospital of Zhengzhou University/Henan Children's Hospital, Zhengzhou, China.
Iona NovakCerebral Palsy Alliance Research Institute, University of Sydney, Sydney, New South Wales, Australia.
Nadia BadawiCerebral Palsy Alliance Research Institute, University of Sydney, Sydney, New South Wales, Australia.ORCID http://orcid.org/0000-0001-6828-1636
Yana A WilsonCerebral Palsy Alliance Research Institute, University of Sydney, Sydney, New South Wales, Australia.ORCID http://orcid.org/0000-0002-6878-1806
Sarah J McIntyreCerebral Palsy Alliance Research Institute, University of Sydney, Sydney, New South Wales, Australia.
Shrikant M ManeYale Center for Genome Analysis, Yale University, New Haven, CT, USA.
Xiaoyang WangHenan Key Laboratory of Child Brain Injury, Third Affiliated Hospital of Zhengzhou University, Zhengzhou, China.
David J AmorMurdoch Children's Research Institute and University of Melbourne Department of Paediatrics, Royal Children's Hospital, Melbourne, Victoria, Australia.
Daniela C ZarnescuDepartments of Molecular & Cellular Biology and Neuroscience, University of Arizona, Tucson, AZ, USA.ORCID http://orcid.org/0000-0002-9607-0139
Qiongshi LuDepartment of Biostatistics & Medical Informatics, University of Wisconsin-Madison, Madison, WI, USA.ORCID http://orcid.org/0000-0002-4514-0969
Qinghe XingInstitute of Biomedical Science and Children's Hospital, and Key Laboratory of Reproduction Regulation of the National Population and Family Planning Commission (NPFPC), Shanghai Institute of Planned Parenthood Research (SIPPR), IRD, Fudan University, Shanghai, China.
Changlian ZhuHenan Key Laboratory of Child Brain Injury, Third Affiliated Hospital of Zhengzhou University, Zhengzhou, China.ORCID http://orcid.org/0000-0002-5029-6730
Kaya BilguvarDepartment of Genetics, Yale University School of Medicine, New Haven, CT, USA.
Sergio Padilla-LopezPediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA.
Richard P LiftonDepartment of Genetics, Yale University School of Medicine, New Haven, CT, USA.
Jozef GeczRobinson Research Institute, The University of Adelaide, Adelaide, South Australia, Australia.ORCID http://orcid.org/0000-0002-7884-6861
Alastair H MacLennanRobinson Research Institute, The University of Adelaide, Adelaide, South Australia, Australia.
Michael C KruerPediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA. kruerm@email.arizona.edu.ORCID http://orcid.org/0000-0002-1373-7891
Yale University · USBarrow Neurological Institute · USThe University of Adelaide · AUThird Affiliated Hospital of Zhengzhou University · CNRoyal Children's Hospital · AUSorbonne Université · FRThe University of Sydney · AUZhengzhou University · CNCentre for Addiction and Mental Health · CAFudan University · CNKennedy Krieger Institute · USUniversity of Arizona · US1 CP Place (United States) · USBoston Children's Hospital · USChildren's Medical Center · USGillette Children's Specialty Healthcare · USIaso Children’s Hospital · GRMassachusetts General Hospital · USMonash University · AUUniversity College London · GB
Funding
Yale Center for Mendelian DisordersU54HG006504 · NHGRI · YALE UNIVERSITY · PI GERSTEIN, MARK BENDER, GUNEL, MURAT · 2012 to 2015
$11.0MSleep and Circadian Dysfunction, Brain and Neurobehavioral Development in AutismP50HD103538 · NICHD · HUGO W. MOSER RES INST KENNEDY KRIEGER · PI Stewart H Mostofsky · 2020 to 2026
$9.9MGenomic Insights into the Neurobiology of Cerebral PalsyR01NS106298 · NINDS · UNIVERSITY OF ARIZONA · PI KRUER, MICHAEL C · 2019 to 2023
$3.7MTranslation dysregulation in neurodegenerationR01NS091299 · NINDS · UNIVERSITY OF ARIZONA · PI DANIELA C ZARNESCU · 2015 to 2026
$3.4MIntegrative Genomic Analysis of Congenital Heart DiseaseR00HL143036 · NHLBI · WASHINGTON UNIVERSITY · PI JIN, SHENG CHIH · 2020 to 2022
$730kIntegrative Genomic Analysis of Congenital Heart DiseaseK99HL143036 · NHLBI · ROCKEFELLER UNIVERSITY · PI JIN, SHENG CHIH · 2019 to 2019
$178kNHGRI NIH HHS U54 HG006504NHLBI NIH HHS K99 HL143036NHLBI NIH HHS R00 HL143036NICHD NIH HHS P50 HD103538NINDS NIH HHS R01 NS091299NINDS NIH HHS R01 NS106298
Abstract
In addition to commonly associated environmental factors, genomic factors may cause cerebral palsy. We performed whole-exome sequencing of 250 parent-offspring trios, and observed enrichment of damaging de novo mutations in cerebral palsy cases. Eight genes had multiple damaging de novo mutations; of these, two (TUBA1A and CTNNB1) met genome-wide significance. We identified two novel monogenic etiologies, FBXO31 and RHOB, and showed that the RHOB mutation enhances active-state Rho effector binding while the FBXO31 mutation diminishes cyclin D levels. Candidate cerebral palsy risk genes overlapped with neurodevelopmental disorder genes. Network analyses identified enrichment of Rho GTPase, extracellular matrix, focal adhesion and cytoskeleton pathways. Cerebral palsy risk genes in enriched pathways were shown to regulate neuromotor function in a Drosophila reverse genetics screen. We estimate that 14% of cases could be attributed to an excess of damaging de novo or recessive variants. These findings provide evidence for genetically mediated dysregulation of early neuronal connectivity in cerebral palsy.
Indexed as
Animalsbeta CateninCerebral PalsyCyclin DCytoskeletonDrosophilaExomeExome SequencingExtracellular MatrixF-Box ProteinsFemaleFocal AdhesionsGenetic Predisposition to DiseaseGenome, HumanHumansMalebeta CateninCTNNB1 protein, humanCyclin DF-Box ProteinsFBXO31 protein, humanrhoB GTP-Binding ProteinRHOB protein, humanTUBA1A protein, humanTubulinTumor Suppressor Proteins
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