ArticleAmerican journal of human genetics2021
Rare and de novo coding variants in chromodomain genes in Chiari I malformation.
Erratum issuedOpen access · bronzeAbstract read
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Article in American journal of human genetics, 2021. 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 17 papers.
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17citing papers in PubMed
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17 citing papers in PubMed, 33 citations in OpenAlex.
- Chiari I malformation.Nature reviews. Disease primers · 2026Review
- Article
- Identification of an episignature for CHD3-related Snijders Blok-Campeau syndrome reveals heterogeneity in the CHARGE syndrome episignature: towards a better characterisation of chromatinopathies.Genome medicine · 2026Article
- Chiari Malformation and Hindbrain Descent: Characterization and New Classification Based on Mechanism and Pathogenesis, and Surgical Management.Neurospine · 2025Article
- Clinical phenotypes among patients with familial forms of Chiari malformation type 1.Journal of neurosurgery. Pediatrics · 2025Article
- Article
- SINEUP RNA rescues molecular phenotypes associated with CHD8 suppression in autism spectrum disorder model systems.Molecular therapy : the journal of the American Society of Gene Therapy · 2025Article
- Variants in Chromatin Remodeling Genes Are Involved in Patients With Chiari Malformation Type 1.Birth defects research · 2025Article
- The Genetics of Chiari 1 Malformation.Journal of clinical medicine · 2024Review
- Knockdown of best1 Gene in Zebrafish Caused Abnormal Neuronal and Skeletal Development - A Subtype of Craniovertebral Junction Malformation?Neurospine · 2024Article
- Integrating non-mammalian model organisms in the diagnosis of rare genetic diseases in humans.Nature reviews. Genetics · 2024Review
- Chiari Syndrome: Advances in Epidemiology and Pathogenesis: A Systematic Review.Journal of clinical medicine · 2023Review
- Innate immune activation and white matter injury in a rat model of neonatal intraventricular hemorrhage are dependent on developmental stage.Experimental neurology · 2023Article
- Multiomic analyses implicate a neurodevelopmental program in the pathogenesis of cerebral arachnoid cysts.Nature medicine · 2023Article
- Innate immune activation and white matter injury in a rat model of neonatal intraventricular hemorrhage are dependent on developmental stage.Research square · 2023Article
- On the association between Chiari malformation type 1, bone mineral density and bone related genes.Bone reports · 2022Article
- Review
Corrections and comments
- Erratum issued
- Erratum issued
Authors and funding
31 authors at 12 institutions in 4 countries.
Brooke SadlerDepartment of Pediatrics, Washington University, St. Louis, MO 63110, USA.
Jackson WilbornDepartment of Neurosurgery, Washington University, St. Louis, MO 63110, USA.
Lilian AntunesDepartment of Orthopaedic Surgery, Washington University, St. Louis, MO 63110, USA.
Timothy KuenstingDepartment of Neurosurgery, Washington University, St. Louis, MO 63110, USA.
Andrew T HaleDivision of Genetic Medicine, Vanderbilt University Medical Center & Medical Scientist Training Program, Vanderbilt University School of Medicine, Nashville, TN 37232, USA.
Stephen R GannonDivision of Pediatric Neurosurgery and Surgical Outcomes Center for Kids, Monroe Carell Jr. Children's Hospital of Vanderbilt University, Nashville, TN 37232, USA.
Kevin McCallDepartment of Orthopaedic Surgery, Washington University, St. Louis, MO 63110, USA.
Carlos CruchagaDepartment of Psychiatry, Washington University, St. Louis, MO 63110, USA.
Matthew HarmsDepartment of Neurology, Columbia University, New York, NY 10027, USA.
Norine VoisinCenter for Integrative Genomics (CIG), University of Lausanne, Lausanne 1015, Switzerland.
Alexandre ReymondCenter for Integrative Genomics (CIG), University of Lausanne, Lausanne 1015, Switzerland.
Gerarda CappuccioDepartment of Translational Medicine, Section of Pediatrics, Federico II University, Naples 80138, Italy; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli 80078, Italy.
Nicola Brunetti-PierriDepartment of Translational Medicine, Section of Pediatrics, Federico II University, Naples 80138, Italy; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli 80078, Italy.
Marco TartagliaGenetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome 00165, Italy.
Marcello NicetaGenetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome 00165, Italy.
Chiara LeoniCenter for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione-Policlinico-Universitario-A. Gemelli-IRCCS, Rome 00168, Italy.
Giuseppe ZampinoCenter for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione-Policlinico-Universitario-A. Gemelli-IRCCS, Rome 00168, Italy.
Allison Ashley-KochDuke Molecular Physiology Institute, Department of Medicine, Duke University, Durham, NC 27708, USA.
Aintzane UrbizuDuke Molecular Physiology Institute, Department of Medicine, Duke University, Durham, NC 27708, USA.
Melanie E GarrettDuke Molecular Physiology Institute, Department of Medicine, Duke University, Durham, NC 27708, USA.
Karen SoldanoDuke Molecular Physiology Institute, Department of Medicine, Duke University, Durham, NC 27708, USA.
Alfons MacayaPediatric Neurology Research group, University Hospital Vall d'Hebron, Barcelona 08035, Spain.
Donald ConradOregon National Primate Research Center, Oregon Health and Science University, Beaverton, OR 97006, USA.
Jennifer StrahleDepartment of Neurosurgery, Washington University, St. Louis, MO 63110, USA.
Matthew B DobbsDepartment of Orthopaedic Surgery, Washington University, St. Louis, MO 63110, USA; Shriners Hospital for Children, St. Louis, MO 63110, USA.
Tychele N TurnerDepartment of Genetics, Washington University, St. Louis, MO 63110, USA.
Chevis N ShannonDivision of Genetic Medicine, Vanderbilt University Medical Center & Medical Scientist Training Program, Vanderbilt University School of Medicine, Nashville, TN 37232, USA.
Douglas BrockmeyerDepartment of Neurological Surgery, University of Utah, Primary Children's Hospital, Salt Lake City, UT 84113, USA.
David D LimbrickDepartment of Neurosurgery, Washington University, St. Louis, MO 63110, USA.
Christina A GurnettDepartment of Pediatrics, Washington University, St. Louis, MO 63110, USA; Department of Orthopaedic Surgery, Washington University, St. Louis, MO 63110, USA; Department of Neurology, Washington University, St. Louis, MO 63110, USA.
Gabe HallerDepartment of Neurosurgery, Washington University, St. Louis, MO 63110, USA; Department of Neurology, Washington University, St. Louis, MO 63110, USA; Department of Genetics, Washington University, St. Louis, MO 63110, USA. Electronic address: ghaller@wustl.edu.
Washington University in St. Louis · USDuke University · USAgostino Gemelli University Polyclinic · ITBambino Gesù Children's Hospital · ITFederico II University Hospital · ITUniversity of Lausanne · CHVanderbilt University Medical Center · USColumbia University · USMonroe Carell Jr. Children's Hospital · USOregon National Primate Research Center · USPrimary Children's Hospital · USVall d'Hebron Hospital Universitari · ES
Funding
WUIDDRC Supplement-Supporting the health and well-being of children with intellectual and developmental disability during COVID-19 pandemicP50HD103525 · NICHD · WASHINGTON UNIVERSITY · PI JOSEPH D DOUGHERTY, Natasha Marrus · 2020 to 2026
$15.5MResource Based Center for Musculoskeletal Biology and Medicine (Overall Application)P30AR074992 · NIAMS · WASHINGTON UNIVERSITY · PI MATTHEW J SILVA · 2019 to 2026
$6.8MGenetic Risk Factors for Severe ScoliosisR01AR067715 · NIAMS · WASHINGTON UNIVERSITY · PI DOBBS, MATTHEW BARRETT, GURNETT, CHRISTINA · 2015 to 2024
$6.0MAlterations in the sulfur assimilation pathway mediates iron metabolismF30HL143826 · NHLBI · VANDERBILT UNIVERSITY · PI HALE, ANDREW T · 2018 to 2020
$99kNHLBI NIH HHS F30 HL143826NIAMS NIH HHS P30 AR074992NIAMS NIH HHS R01 AR067715NICHD NIH HHS P50 HD103525
Abstract
Chiari I malformation (CM1), the displacement of the cerebellum through the foramen magnum into the spinal canal, is one of the most common pediatric neurological conditions. Individuals with CM1 can present with neurological symptoms, including severe headaches and sensory or motor deficits, often as a consequence of brainstem compression or syringomyelia (SM). We conducted whole-exome sequencing (WES) on 668 CM1 probands and 232 family members and performed gene-burden and de novo enrichment analyses. A significant enrichment of rare and de novo non-synonymous variants in chromodomain (CHD) genes was observed among individuals with CM1 (combined p = 2.4 × 10
Indexed as
AdultAnimalsArnold-Chiari MalformationBrainCase-Control StudiesDNA-Binding ProteinsExome SequencingFemaleHaploinsufficiencyHumansMagnetic Resonance ImagingMalePolymorphism, Single NucleotideSyringomyeliaZebrafishDNA-Binding ProteinsChiari I malformationchromodomain genesde novo mutationsgene burdenmacrocephalyrare variantszebrafish disease model
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