ArticleAmerican journal of human genetics2019
Redefining the Etiologic Landscape of Cerebellar Malformations.
Article in American journal of human genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 61 papers.
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Who cites it
61 citing papers in PubMed, 95 citations in OpenAlex.
- Fetal Posterior Fossa Anomalies: Diagnosis-Specific Ultrasound-MRI Concordance and Divergent Perinatal Outcomes.Medicina (Kaunas, Lithuania) · 2026Article
- The NeuroWES project: lessons learned from comprehensive phenotyping and genetic analysis of neurodevelopmental disorders over a decade.Human genetics · 2026Article
- Identification of tubulin gene variants in patients with dandy-walker malformation: expanding the spectrum of tubulinopathies.Molecular cytogenetics · 2026Article
- CUL3-Related Neurodevelopmental Disorder: Expanding the Prenatal Phenotype.Prenatal diagnosis · 2026Article
- Posterior Fossa Malformations in a Cohort of 116 Fetuses: A Retrospective Analysis of Imaging Characteristics, Postnatal Imaging Concordance, Pregnancy Outcomes and Yield of Genetic Testing.Cerebellum (London, England) · 2026Article
- Prenatal Diagnosis and Neurodevelopmental Outcome of Children With Marked Opening of the Fourth Ventricle: Challenges and Pitfalls in MRI Diagnostic Criteria.Prenatal diagnosis · 2026Article
- Spatiotemporal histogenesis of the developing human cerebellum reveals dynamic layering of Bergmann glia.Proceedings of the National Academy of Sciences of the United States of America · 2026Article
- Expandingthe Phenotypic Spectrum ofMolecular syndromology · 2026Article
- Global developmental delay and focal seizures in individuals with de novo truncating MACF1 variants.Human genomics · 2026Article
- Genetic Insights in Hindbrain Abnormalities Through Network Analysis Expose Key Biological Pathways in Hindbrain Development.Cerebellum (London, England) · 2025Article
- A clinical and genotype-phenotype analysis of MACF1 variants.American journal of human genetics · 2025Article
- Identification ofJournal of medical genetics · 2025Article
- Mapping the developmental profile of ventricular zone-derived neurons in the human cerebellum.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- Fetal imaging of posterior fossa malformations.Pediatric radiology · 2025Review
- BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations.European journal of human genetics : EJHG · 2025Article
- A subpopulation of cortical neurons altered by mutations in the autism risk gene DDX3X.Biology open · 2025Article
- Impact of Intrauterine Insults on Fetal and Postnatal Cerebellar Development in Humans and Rodents.Cells · 2024Review
- A homozygous variant in ARHGAP39 is associated with lethal cerebellar vermis hypoplasia in a consanguineous Saudi family.Scientific reports · 2024Article
- Concurrent Dandy-Walker malformation and persistent fetal vasculature: A case report.International journal of surgery case reports · 2024Article
- DDX3X syndrome: From clinical phenotypes to biological insights.Journal of neurochemistry · 2024Review
1 more citing papers are in PubMed but not listed here.
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Authors and funding
46 authors at 18 institutions in 5 countries.
Funding
Abstract
Cerebellar malformations are diverse congenital anomalies frequently associated with developmental disability. Although genetic and prenatal non-genetic causes have been described, no systematic analysis has been performed. Here, we present a large-exome sequencing study of Dandy-Walker malformation (DWM) and cerebellar hypoplasia (CBLH). We performed exome sequencing in 282 individuals from 100 families with DWM or CBLH, and we established a molecular diagnosis in 36 of 100 families, with a significantly higher yield for CBLH (51%) than for DWM (16%). The 41 variants impact 27 neurodevelopmental-disorder-associated genes, thus demonstrating that CBLH and DWM are often features of monogenic neurodevelopmental disorders. Though only seven monogenic causes (19%) were identified in more than one individual, neuroimaging review of 131 additional individuals confirmed cerebellar abnormalities in 23 of 27 genetic disorders (85%). Prenatal risk factors were frequently found among individuals without a genetic diagnosis (30 of 64 individuals [47%]). Single-cell RNA sequencing of prenatal human cerebellar tissue revealed gene enrichment in neuronal and vascular cell types; this suggests that defective vasculogenesis may disrupt cerebellar development. Further, de novo gain-of-function variants in PDGFRB, a tyrosine kinase receptor essential for vascular progenitor signaling, were associated with CBLH, and this discovery links genetic and non-genetic etiologies. Our results suggest that genetic defects impact specific cerebellar cell types and implicate abnormal vascular development as a mechanism for cerebellar malformations. We also confirmed a major contribution for non-genetic prenatal factors in individuals with cerebellar abnormalities, substantially influencing diagnostic evaluation and counseling regarding recurrence risk and prognosis.
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