ReviewSeminars in fetal & neonatal medicine2016
The genetics of cerebellar malformations.
Review in Seminars in fetal & neonatal medicine, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers, 1 of them a synthesis that pooled it.
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.
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
26 citing papers in PubMed, 1 synthesis or guideline pooled it, 61 citations in OpenAlex.
- Magnetic Resonance Imaging and Its Clinical Correlation in Spinocerebellar Ataxia Type 3: A Systematic Review.Frontiers in neuroscience · 2022Pooled it
- Prenatal diagnosis of infratentorial anomalies: ultrasound, fetal MRI, and implications for counseling.Pediatric radiology · 2026Review
- The transient external granular layer in human foetal cerebellum: insights into neurogenesis, genetic regulation, and developmental disorders.Anatomy & cell biology · 2025Review
- Genetic Insights in Hindbrain Abnormalities Through Network Analysis Expose Key Biological Pathways in Hindbrain Development.Cerebellum (London, England) · 2025Article
- An Incidental Discovery of Dandy-Walker Malformation on MRI in a 76-Year-Old Male Patient: A Case Report.Cureus · 2025Article
- Neuroradiologic, Clinical, and Genetic Characterization of Cerebellar Heterotopia: A Pediatric Multicentric Study.AJNR. American journal of neuroradiology · 2025Article
- Clinical and Genetic Characterization of a Cohort of Brazilian Patients With Congenital Ataxia.Neurology. Genetics · 2024Article
- Developmental and foliation changes due to dysregulation of adenosine kinase in the cerebellum.Scientific reports · 2023Article
- Article
- Severe cerebellar malformations in mutant mice demonstrate a role for PDGF-C/PDGFRα signalling in cerebellar development.Biology open · 2022Article
- Human Cerebellar Development and Transcriptomics: Implications for Neurodevelopmental Disorders.Annual review of neuroscience · 2022Review
- Recessive PRDM13 mutations cause fatal perinatal brainstem dysfunction with cerebellar hypoplasia and disrupt Purkinje cell differentiation.American journal of human genetics · 2022Article
- Phenotypic spectrum of patients with mutations in CHD7: clinical implications of endocrinological findings.Endocrine connections · 2022Article
- Regional brain development in fetuses with Dandy-Walker malformation: A volumetric fetal brain magnetic resonance imaging study.PloS one · 2022Article
- Dandy-Walker malformation and intermittent explosive disorder: A case report.SAGE open medical case reports · 2022Article
- Evidence of disrupted rhombic lip development in the pathogenesis of Dandy-Walker malformation.Acta neuropathologica · 2021Article
- Diagnostic Approach to Cerebellar Hypoplasia.Cerebellum (London, England) · 2021Review
- Spatial and cell type transcriptional landscape of human cerebellar development.Nature neuroscience · 2021Article
- High-resolution transcriptional landscape of xeno-free human induced pluripotent stem cell-derived cerebellar organoids.Scientific reports · 2021Article
- A Proposed Clinical Classification and a Diagnostic Approach for Congenital Ataxias.Neurology. Clinical practice · 2021Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 1 institution in 1 country.
Funding
Abstract
The cerebellum has long been recognized for its role in motor co-ordination, but it is also increasingly appreciated for its role in complex cognitive behavior. Historically, the cerebellum has been overwhelmingly understudied compared to the neocortex in both humans and model organisms. However, this tide is changing as advances in neuroimaging, neuropathology, and neurogenetics have led to clinical classification and gene identification for numerous developmental disorders that impact cerebellar structure and function associated with significant overall neurodevelopmental dysfunction. Given the broad range in prognosis and associated medical and neurodevelopmental concerns accompanying cerebellar malformations, a working knowledge of these disorders and their causes is critical for obstetricians, perinatologists, and neonatologists. Here we present an update on the genetic causes for cerebellar malformations that can be recognized by neuroimaging and clinical characteristics during the prenatal and postnatal periods.
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Registered trials
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 OpenQuestion graph.