Functional validation of variants of unknown significance using CRISPR gene editing and transcriptomics: A Kleefstra syndrome case study-Reference-Cited by-同舟云学术

Functional validation of variants of unknown significance using CRISPR gene editing and transcriptomics: A Kleefstra syndrome case study

Published:2022-05 Issue: Volume:821 Page:146287
ISSN:0378-1119
Container-title:Gene
language:en
Short-container-title:Gene

Author:

Fear Vanessa S,Forbes Catherine A,Anderson Denise,Rauschert Sebastian,Syn Genevieve,Shaw Nicole,Jones Matthew E,Forrest Alistair RR,Baynam Gareth,Lassmann Timo

Funder

Stem Cells Australia

The McCusker Charitable Foundation

NHMRC

Publisher

Elsevier BV

Subject

Genetics,General Medicine

Reference57 articles.

1. C2H2-Type Zinc Finger Proteins in Brain Development, Neurodevelopmental, and Other Neuropsychiatric Disorders: Systematic Literature-Based Analysis;Al-Naama;Front Neurol,2020

2. Differential expression analysis for sequence count data;Anders;Genome Biol,2010

3. Wnt5a Signaling in Cancer;Asem;Cancers (Basel),2016

4. Distinct synaptic vesicle recycling in inhibitory nerve terminals is coordinated by SV2A;Bae;Prog Neurobiol,2020

5. The MEME Suite;Bailey;Nucleic Acids Res,2015

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