ArticleAnnals of neurology2016
Whole exome sequencing in patients with white matter abnormalities.
Article in Annals of neurology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT02699190 (LeukoSEQ), which is not on this map. Cited by 87 papers.
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.
LeukoSEQ: Whole Genome Sequencing as a First-Line Diagnostic Tool for Leukodystrophies
Who cites it
87 citing papers in PubMed.
- Randomized Clinical Trial of First-Line Genome Sequencing in Pediatric White Matter Disorders.Annals of neurology · 2020Trial
- Whole-exome sequencing reveals novel and previously reported variants in genes linked to white matter pathology in neurodevelopmental disorders.European journal of human genetics : EJHG · 2026Article
- Normative modeling for quantitative brain MRI phenotyping and biomarker discovery for pediatric leukodystrophies.medRxiv : the preprint server for health sciences · 2026Article
- Pontocerebellar hypoplasia type 9 with a novel combination of compound heterozygous variants in AMPD2.Human genome variation · 2026Article
- Human CNTNAP1 Variants Associated With Severe Neurological Deficits: Additional Cases and Literature Review.Muscle & nerve · 2026Review
- Expanding genetic and clinical spectra of β-tubulinopathies: A Korean study.Journal of human genetics · 2026Article
- Article
- Improved genomic characterization of a clinically heterogeneous pediatric cohort with WGS vs. WES.Scientific reports · 2025Article
- Evaluating the effects of pro-myelinating drugs on motor function and myelination in a zebrafish model of genetic leukoencephalopathy.Neuroscience letters · 2025Article
- Movement Disorders in CSF1R -Related Leukoencephalopathy: A Case Series.Annals of Indian Academy of Neurology · 2025Article
- A Novel Mutation in CNTNAP1 Gene Causes Disorganization of Axonal Domains, Hypomyelination and Severe Neurological Deficits.Journal of neuroscience research · 2025Article
- GATAD2B-related developmental and epileptic encephalopathy (DEE): Extending the epilepsy phenotype and a literature appraisal.Epilepsia open · 2025Review
- Genomic sequencing: the case for equity of care in the era of personalized medicine.Pediatric research · 2025Review
- "Case report": Whole-exome sequencing reveals compound heterozygous variants in theFrontiers in genetics · 2025Article
- Article
- Differential expression of nuclear-derived mitochondrial succinate dehydrogenase genes in metabolically active buffalo tissues.Molecular biology reports · 2024Article
- Spectrum of Leukodystrophy and Genetic Leukoencephalopathy in Indian Population Diagnosed by Clinical Exome Sequencing and Clinical Utility.Neurology. Genetics · 2024Article
- Multisite Injections of Canine Glial-Restricted Progenitors Promote Brain Myelination and Extend the Survival of Dysmyelinated Mice.International journal of molecular sciences · 2024Article
- Nucleotide metabolism, leukodystrophies, and CNS pathology.Journal of inherited metabolic disease · 2024Review
- Novel PIP5K1C variant identified in a Chinese pedigree with lethal congenital contractural syndrome 3.BMC pediatrics · 2024Article
27 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
29 authors.
Funding
Abstract
Here we report whole exome sequencing (WES) on a cohort of 71 patients with persistently unresolved white matter abnormalities with a suspected diagnosis of leukodystrophy or genetic leukoencephalopathy. WES analyses were performed on trio, or greater, family groups. Diagnostic pathogenic variants were identified in 35% (25 of 71) of patients. Potentially pathogenic variants were identified in clinically relevant genes in a further 7% (5 of 71) of cases, giving a total yield of clinical diagnoses in 42% of individuals. These findings provide evidence that WES can substantially decrease the number of unresolved white matter cases. Ann Neurol 2016;79:1031-1037.
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Registered trials
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