ArticleNature genetics2024
Comprehensive whole-genome sequence analyses provide insights into the genomic architecture of cerebral palsy.
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In one paragraph
Article in Nature genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers, 1 of them a synthesis that pooled it.
0numbers the graph read from it
0cells of the map it votes in
24citing papers in PubMed, 1 pooled it
16.2field-weighted citation impact, top 1% of its field
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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
24 citing papers in PubMed, 1 synthesis or guideline pooled it, 37 citations in OpenAlex.
- Genomic findings in non-cryptogenic cerebral palsy: a systematic review and meta-analysis.Frontiers in neurologyPooled it
- Whole genome sequencing in cerebral palsy: a UK paediatric pilot study.The Lancet regional health. Europe · 2026Article
- Chinese expert consensus on the diagnostic definition of cerebral palsy.BMJ paediatrics open · 2026Article
- Effects of Pallidal Deep Brain Stimulation on Speech and Swallowing in Pediatric Patients with Dystonia.Movement disorders clinical practice · 2026Article
- A Phenotypic Paradigm for Cerebral Palsy Genetics.medRxiv : the preprint server for health sciences · 2026Article
- Gene4Denovo2: an updated platform for human de novo mutations discovery and interpretation.Nucleic acids research · 2026Article
- Advances in Genetic Discoveries in Cerebral Palsy: Implications for Diagnosis, Prognosis, and Counseling.Current neurology and neuroscience reports · 2026Review
- 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
- Genetic testing in the diagnosis of cerebral palsy: First-tier for all versus a 'choosing wisely' approach.Developmental medicine and child neurology · 2025Article
- Genetic testing in cerebral palsy with clinical and neuroimaging variables.Developmental medicine and child neurology · 2025Article
- Collagen IV in Gould syndrome and Alport syndrome.Nature reviews. Nephrology · 2025Review
- CYP51A1 in health and disease: from sterol metabolism to regulated cell death.Cell death discovery · 2025Review
- Insights into the genetic landscape of cerebral palsy.Clinical and translational medicine · 2025Article
- Expanding the Allelic and Clinical Heterogeneity of Movement Disorders Linked to Defects of Mitochondrial Adenosine Triphosphate Synthase.Movement disorders : official journal of the Movement Disorder Society · 2025Article
- Cerebral palsy characteristics in term-born children with and without detectable perinatal risk factors: A cross-sectional study.Developmental medicine and child neurology · 2025Article
- Genetic investigations in cerebral palsy.Developmental medicine and child neurology · 2025Review
- Unravelling genetic etiology of cerebral palsy: findings from a Slovenian pediatric cohort.Frontiers in neurology · 2025Article
- Genetics of Cerebral Palsy: Diagnosis, Differential Diagnosis, and Beyond.Annals of rehabilitation medicine · 2024Article
- IL-1 Blockade Mitigates Autism and Cerebral Palsy Traits in Offspring In-Utero Exposed to Group BInternational journal of molecular sciences · 2024Article
Corrections and comments
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Authors and funding
64 authors at 15 institutions in 2 countries.
Darcy L Fehlings *Division of Developmental Paediatrics, Holland Bloorview Kids Rehabilitation Hospital, Toronto, Ontario, Canada.
Mehdi Zarrei *The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.
Worrawat EngchuanThe Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.
Neal SondheimerDepartment of Paediatrics, Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada.ORCID http://orcid.org/0000-0001-9982-5712
Bhooma ThiruvahindrapuramThe Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.ORCID http://orcid.org/0000-0003-1128-008X
Jeffrey R MacDonaldThe Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.ORCID http://orcid.org/0000-0001-5058-2393
Edward J HigginbothamThe Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.
Ritesh ThapaDivision of Developmental Paediatrics, Holland Bloorview Kids Rehabilitation Hospital, Toronto, Ontario, Canada.
Tarannum BehlimCentre for Outcomes Research and Evaluation, Research Institute of the McGill University Health Centre, Montréal, Québec, Canada.
Sabrina AimolaDivision of Developmental Paediatrics, Holland Bloorview Kids Rehabilitation Hospital, Toronto, Ontario, Canada.
Lauren SwitzerDivision of Developmental Paediatrics, Holland Bloorview Kids Rehabilitation Hospital, Toronto, Ontario, Canada.ORCID http://orcid.org/0000-0001-7806-3923
Pamela NgCentre for Outcomes Research and Evaluation, Research Institute of the McGill University Health Centre, Montréal, Québec, Canada.
John WeiThe Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.
Prakroothi S DanthiThe Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.
Giovanna PellecchiaThe Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.ORCID http://orcid.org/0000-0003-4747-3473
Sylvia LamoureuxThe Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.
Karen HoThe Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.ORCID http://orcid.org/0000-0002-6004-8589
Sergio L PereiraThe Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.
Jill de RijkeThe Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.
Wilson W L SungThe Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.ORCID http://orcid.org/0000-0002-4703-5118
Alireza MowjoodiThe Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.
Jennifer L HoweThe Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.
Thomas NalpathamkalamThe Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.
Roozbeh ManshaeiThe Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.
Siavash GhaffariThe Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.
Joseph WhitneyThe Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.
Rohan V PatelThe Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.ORCID http://orcid.org/0000-0001-8674-9706
Omar HamdanThe Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.
Rulan ShaathThe Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.
Brett TrostThe Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.
Shannon KnightsDepartment of Paediatrics, Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada.
Dawa SamdupDepartment of Pediatrics, Queen's University, Kingston, Ontario, Canada.
Anna McCormickChildren's Hospital of Eastern Ontario and University of Ottawa, Ottawa, Ontario, Canada.
Carolyn HuntGrandview Children's Centre, Oshawa, Ontario, Canada.
Adam KirtonDepartment of Pediatrics, Department of Clinical Neuroscience, University of Calgary, Calgary, Alberta, Canada.
Anne KawamuraDivision of Developmental Paediatrics, Holland Bloorview Kids Rehabilitation Hospital, Toronto, Ontario, Canada.
Ronit MestermanDepartment of Pediatrics, McMaster University, Hamilton, Ontario, Canada.
Jan Willem GorterDepartment of Pediatrics, McMaster University, Hamilton, Ontario, Canada.
Nomazulu DlaminiDepartment of Paediatrics, Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada.
Daniele MericoThe Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.
Murto HilaliThe Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.ORCID http://orcid.org/0000-0002-1541-0120
Kyle HirschfeldThe Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.ORCID http://orcid.org/0000-0001-8374-2787
Kritika GroverThe Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.
Nelson X BautistaThe Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.
Kara HanThe Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.
Christian R MarshallGenome Diagnostics, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada.ORCID http://orcid.org/0000-0002-4003-7671
Ryan K C YuenThe Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.ORCID http://orcid.org/0000-0001-7273-4968
Padmaja SubbaraoDepartment of Paediatrics, Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada.ORCID http://orcid.org/0000-0003-0394-1933
Meghan B AzadDepartment of Pediatrics and Child Health, University of Manitoba, Winnipeg, Manitoba, Canada.
Stuart E TurveyDepartment of Pediatrics, BC Children's Hospital, University of British Columbia, Vancouver, British Columbia, Canada.
Piush MandhaneFaculty of Medicine & Dentistry, Pediatrics Department, University of Alberta, Edmonton, Alberta, Canada.
Theo J MoraesDepartment of Paediatrics, Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada.
Elinor SimonsDepartment of Pediatrics and Child Health, Section of Allergy and Clinical Immunology, University of Manitoba, Children's Hospital Research Institute of Manitoba, Winnipeg, Manitoba, Canada.
George MaxwellWomen's Health Integrated Research Center, Inova Women's Service Line, Inova Health System, Falls Church, VA, USA.
Michael ShevellCentre for Outcomes Research and Evaluation, Research Institute of the McGill University Health Centre, Montréal, Québec, Canada.
Gregory CostainDepartment of Paediatrics, Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada.
Jacques L MichaudDepartments of Pediatrics and Neurosciences, Université de Montréal, Montréal, Québec, Canada.ORCID http://orcid.org/0000-0002-9912-0293
Fadi F HamdanCHU Sainte-Justine Azrieli Research Center, Montréal, Québec, Canada.
Julie GauthierCHU Sainte-Justine Azrieli Research Center, Montréal, Québec, Canada.
Kevin UguenCHU Sainte-Justine Azrieli Research Center, Montréal, Québec, Canada.ORCID http://orcid.org/0000-0002-6744-2837
Dimitri J StavropoulosGenome Diagnostics, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada.
Richard F WintleThe Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.ORCID http://orcid.org/0000-0003-1987-1095
Maryam OskouiCentre for Outcomes Research and Evaluation, Research Institute of the McGill University Health Centre, Montréal, Québec, Canada.
Stephen W SchererThe Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada. Stephen.Scherer@sickkids.ca.ORCID http://orcid.org/0000-0002-8326-1999
Hospital for Sick Children · CAUniversity of Toronto · CACentre Hospitalier Universitaire Sainte-Justine · CAMcGill University Health Centre · CAHolland Bloorview Kids Rehabilitation Hospital · CAMcMaster University · CAChildren's Hospital Research Institute of Manitoba · CAInova Health System · USQueen's University · CAThames Valley Children's Centre · CAUniversity of Alberta · CAUniversity of British Columbia · CAUniversity of Calgary · CAUniversity of Manitoba · CAUniversity of Ottawa · CA
Funding
Gouvernement du Canada | Canadian Institutes of Health Research (Instituts de Recherche en Santé du Canada) PJT-153004Gouvernement du Canada | Canadian Institutes of Health Research (Instituts de Recherche en Santé du Canada) PJT-175329Ontario Brain Institute (Institut Ontarien du Cerveau) Childhood Cerebral Palsy Neuroscience Discovery Network (CP-NET)
Abstract
We performed whole-genome sequencing (WGS) in 327 children with cerebral palsy (CP) and their biological parents. We classified 37 of 327 (11.3%) children as having pathogenic/likely pathogenic (P/LP) variants and 58 of 327 (17.7%) as having variants of uncertain significance. Multiple classes of P/LP variants included single-nucleotide variants (SNVs)/indels (6.7%), copy number variations (3.4%) and mitochondrial mutations (1.5%). The COL4A1 gene had the most P/LP SNVs. We also analyzed two pediatric control cohorts (n = 203 trios and n = 89 sib-pair families) to provide a baseline for de novo mutation rates and genetic burden analyses, the latter of which demonstrated associations between de novo deleterious variants and genes related to the nervous system. An enrichment analysis revealed previously undescribed plausible candidate CP genes (SMOC1, KDM5B, BCL11A and CYP51A1). A multifactorial CP risk profile and substantial presence of P/LP variants combine to support WGS in the diagnostic work-up across all CP and related phenotypes.
Indexed as
Cerebral PalsyDNA Copy Number VariationsChildGenomicsHumansMutationWhole Genome Sequencing
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Textmetadata
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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.