Synapse
⌘+K
Synapse
PulseExploreClubsResearchersJournals
Instagram
HomeClubsExplore
January 19, 2023The American Journal of Human GeneticsOpen Access

Web-accessible application for identifying pathogenic transcripts with RNA-seq: Increased sensitivity in diagnosis of neurodevelopmental disorders

View Full Paper
Ask AI
Bookmark
Share

Authors

JDJordy DekkerErasmus MCRSRachel SchotErasmus MCMBMichiel BongaertsErasmus MC

Discussion

Loading...

Member takes

Implication

Key Points

Key points are not available for this paper at this time.

Cite This Study

Dekker et al. (2023) studied this question.

synapsesocial.com/papers/69d7bf1261e2ce1627d17d3bhttps://doi.org/10.1016/j.ajhg.2022.12.015
View Full Paper
Ask AI
Bookmark
Share

Also Consider

Synapse has enriched 3 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1How to get away with nonsense: Mechanisms and consequences of escape from nonsense‐mediated RNA decay2019 · 134 citations
  2. 2Genetics of Early Onset Cognitive Impairment2010 · 378 citations
  3. 3Improving genetic diagnosis in Mendelian disease with transcriptome sequencing2017 · 845 citations