ArticleCold Spring Harbor molecular case studies2022
The utility of cerebrospinal fluid-derived cell-free DNA in molecular diagnostics for the
Article in Cold Spring Harbor molecular case studies, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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
9 citing papers in PubMed, 13 citations in OpenAlex.
- Alpelisib, a PI3Kα inhibitor, effectively treats vascular anomalies with diverse genotypes and phenotypes.Blood vessels, thrombosis & hemostasis · 2026Article
- A Prenatal Ultrasound Study of Cerebral Cortical Sulci and Gyri Development in Fetuses With Overgrowth Syndrome and/or Cerebral Malformations due to Abnormalities in MTOR Pathway Genes.Molecular genetics & genomic medicine · 2025Article
- Advancing precision diagnostics: minimally invasive approaches for understanding the role of brain-limited somatic mutations in pediatric drug-resistant epilepsy.Frontiers in surgery · 2025Review
- Defining the transcriptome of PIK3CA-altered cells in a human capillary malformation using single cell long-read sequencing.Scientific reports · 2024Article
- Tandem pediatric neurosurgery: treatment of synostosis and intractable epilepsy. Illustrative case.Journal of neurosurgery. Case lessons · 2023Article
- Technological and computational approaches to detect somatic mosaicism in epilepsy.Neurobiology of disease · 2023Review
- Genomic profiling informs diagnoses and treatment in vascular anomalies.Nature medicine · 2023Article
- Detection of brain somatic mutations in focal cortical dysplasia during epilepsy presurgical workup.Brain communications · 2023Article
- Vascular malformations: An overview of their molecular pathways, detection of mutational profiles and subsequent targets for drug therapy.Frontiers in neurology · 2023Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors at 1 institution in 1 country.
Funding
Abstract
The megalencephaly-capillary malformation (MCAP) syndrome is an overgrowth disorder caused by mosaic gain-of-function variants in
Indexed as
Identifiers
What OpenQuestion holds
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.