ArticleCold Spring Harbor molecular case studies2017
Novel de novo variant 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 16 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
16 citing papers in PubMed, 31 citations in OpenAlex.
- Interlocked transcription factor feedback loops maintain and restore adult touch sensation.Cell reports · 2026Article
- Cell type-specific functions of the PBAF chromatin-remodeling complex in neuronal diversification.Nature communications · 2025Article
- Disrupted development of sensory systems and the cerebellum in a zebrafish ebf3a mutant.G3 (Bethesda, Md.) · 2025Article
- Strabismus in Genetic Syndromes: A Review.Clinical & experimental ophthalmology · 2025Review
- Article
- Integrative analysis of transcriptome dynamics during human craniofacial development identifies candidate disease genes.Nature communications · 2023Article
- Neurologic, Neuropsychologic, and Neuroradiologic Features ofNeurology. Genetics · 2023Article
- Dystrophin genetic variants and autism.Discover mental health · 2022Article
- Neuroimaging Findings in Patients withMolecular syndromology · 2021Article
- Impact of integrated translational research on clinical exome sequencing.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
- Article
- In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila.Journal of visualized experiments : JoVE · 2019Article
- Molecular modeling of LDLR aids interpretation of genomic variants.Journal of molecular medicine (Berlin, Germany) · 2019Article
- An ancient role for collier/Olf/Ebf (COE)-type transcription factors in axial motor neuron development.Neural development · 2019Article
- Phenotype comparison confirms ZMYND11 as a critical gene for 10p15.3 microdeletion syndrome.Journal of applied genetics · 2017Article
- De novo variants inCold Spring Harbor molecular case studies · 2017Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
12 authors at 3 institutions in 2 countries.
Funding
Abstract
Pathogenic 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.