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

<p dir="ltr">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...

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Main Author: Heba Yasin (14152542) (author)
Other Authors: Robert Stowe (19653565) (author), Chi Kin Wong (3842545) (author), Puthen Veettil Jithesh (12040358) (author), Farah R Zahir (19653568) (author)
Published: 2020
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