Prioritizing de novo potential non-canonical splicing variants in neurodevelopmental disorders
Author:
Publisher
Elsevier BV
Subject
General Biochemistry, Genetics and Molecular Biology,General Medicine
Reference64 articles.
1. Integrative analysis prioritised oxytocin-related biomarkers associated with the aetiology of autism spectrum disorder;Wang;EBioMedicine,2022
2. Exome sequencing in schizophrenia-affected parent-offspring trios reveals risk conferred by protein-coding de novo mutations;Howrigan;Nat Neurosci,2020
3. Diagnostic exome sequencing in persons with severe intellectual disability;de Ligt;N Engl J Med,2012
4. De novo mutations in epileptic encephalopathies;Epi4K Consortium;Nature,2013
5. Evidence for 28 genetic disorders discovered by combining healthcare and research data;Kaplanis;Nature,2020
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