ArticleAmerican journal of human genetics2018
A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis.
Article in American journal of human genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
6 citing papers in PubMed.
- PACS1 syndrome variant alters the proteomic landscape of developing cortical organoids.iScience · 2026Article
- PACS gene family-related neurological diseases: limited genotypes and diverse phenotypes.World journal of pediatrics : WJP · 2024Article
- Molecular Diagnostic Outcomes from 700 Cases: What Can We Learn from a Retrospective Analysis of Clinical Exome Sequencing?The Journal of molecular diagnostics : JMD · 2022Article
- Article
- EEG Monitoring of the Epileptic Newborn.Current neurology and neuroscience reports · 2020Review
- Heterogeneous clinical and functional features of GRIN2D-related developmental and epileptic encephalopathy.Brain : a journal of neurology · 2019Article
Corrections and comments
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Authors and funding
58 authors.
Funding
Abstract
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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.