First Whole Transcriptome RNAseq on CHD8 Haploinsufficient Patient and Meta-Analyses Across Cellular Models Uncovers Likely Key Pathophysiological Target Genes

In 2019, we confirmed that the haploinsufficiency of CHD8 does indeed cause the novel syndromic neurodevelopmental disease we first discovered a dozen years before. Here, we report the first whole transcriptome RNAseq gene expression profiling for a patient with this new syndrome, as a preliminary e...

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Detalles Bibliográficos
Autores principales: Yasin, Heba, Stowe, Robert, Wong, Chi Kin, Jithesh, Puthen Veettil, Zahir, Farah R
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2020
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7710346/
https://www.ncbi.nlm.nih.gov/pubmed/33282601
http://dx.doi.org/10.7759/cureus.11571

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7710346/
https://www.ncbi.nlm.nih.gov/pubmed/33282601
http://dx.doi.org/10.7759/cureus.11571

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