ArticleBrain : a journal of neurology2017
Genotype-phenotype correlation in ATAD3A deletions: not just of scientific relevance.
Article in Brain : a journal of neurology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 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
19 citing papers in PubMed.
- [A case of Harel-Yoon syndrome with seizures caused by anZhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2025Article
- Clinical and variant spectrum of patients harboringTranslational pediatrics · 2025Article
- Optimizing gRNA selection for high-penetrance F0 CRISPR screening for interrogating disease gene function.Nucleic acids research · 2025Article
- Elevated cholesterol in ATAD3 mutants is a compensatory mechanism that leads to membrane cholesterol aggregation.Brain : a journal of neurology · 2024Article
- Article
- Mutations in mitochondrialFrontiers in neuroscience · 2024Review
- Functional genomics and small molecules in mitochondrial neurodevelopmental disorders.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2024Review
- Article
- ATAD3A: A Key Regulator of Mitochondria-Associated Diseases.International journal of molecular sciences · 2023Review
- ATAD3A-related pontocerebellar hypoplasia: new patients and insights into phenotypic variability.Orphanet journal of rare diseases · 2023Article
- Severe spinal cord hypoplasia due to a novelMolecular genetics and metabolism reports · 2022Article
- Prenatal exome sequencing: A useful tool for the fetal neurologist.Clinical genetics · 2022Article
- Functional interpretation of ATAD3A variants in neuro-mitochondrial phenotypes.Genome medicine · 2021Article
- Fatal perinatal mitochondrial cardiac failure caused by recurrentMed (New York, N.Y.) · 2021Article
- A splice variant inNeurology. Genetics · 2020Article
- Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism.American journal of human genetics · 2020Article
- From diagnostic yield to clinical impact: a pilot study on the implementation of prenatal exome sequencing in routine care.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
- Putting genome-wide sequencing in neonates into perspective.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
- What's new in pontocerebellar hypoplasia? An update on genes and subtypes.Orphanet journal of rare diseases · 2018Review
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Authors and funding
11 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
PubMed holds no abstract for this paper.
Indexed as
Identifiers
29053797What 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.