ArticleCold Spring Harbor molecular case studies2017
De novo variants in
Article in Cold Spring Harbor molecular case studies, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 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
17 citing papers in PubMed, 36 citations in OpenAlex.
- Disrupted development of sensory systems and the cerebellum in a zebrafish ebf3a mutant.G3 (Bethesda, Md.) · 2025Article
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- Integrative analysis of transcriptome dynamics during human craniofacial development identifies candidate disease genes.Nature communications · 2023Article
- [Association of ventricular septal defect with rare variations of theZhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2023Article
- Neurologic, Neuropsychologic, and Neuroradiologic Features ofNeurology. Genetics · 2023Article
- Diagnostic yield of exome sequencing in congenital vertical talus.European journal of medical genetics · 2022Article
- Rapid assessment of the temporal function and phenotypic reversibility of neurodevelopmental disorder risk genes in Caenorhabditis elegans.Disease models & mechanisms · 2022Article
- Dystrophin genetic variants and autism.Discover mental health · 2022Article
- Terminal 10q26.12 deletion is associated with neonatal asymmetric crying facies syndrome: a case report and literature review.Molecular cytogenetics · 2021Article
- Neuroimaging Findings in Patients withMolecular syndromology · 2021Article
- A NovelFrontiers in genetics · 2021Article
- Characterization of an unbalanced translocation causing 3q28qter duplication and 10q26.2qter deletion in a patient with global developmental delay and self-injury.Cold Spring Harbor molecular case studies · 2020Article
- Early B-cell Factor 3-Related Genetic Disease Can Mimic Urofacial Syndrome.Kidney international reports · 2020Article
- Phen2Gene: rapid phenotype-driven gene prioritization for rare diseases.NAR genomics and bioinformatics · 2020Article
- In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila.Journal of visualized experiments : JoVE · 2019Article
- A newly identified mutation in theCold Spring Harbor molecular case studies · 2019Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
19 authors at 9 institutions in 1 country.
Funding
Abstract
Using whole-exome sequencing, we identified seven unrelated individuals with global developmental delay, hypotonia, dysmorphic facial features, and an increased frequency of short stature, ataxia, and autism with de novo heterozygous frameshift, nonsense, splice, and missense variants in the
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.