Associated Papers
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
38865309 (PubMed )
Supplement: pbio.3002680.s016.xlsx › ClinVar
Prioritizing de novo potential non-canonical splicing variants in neurodevelopmental disorders.
Li K et al.
Ebiomedicine, 2024
38113761 (PubMed )
Supplement: mmc2.xlsx › Table_S4
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
35404956 (PubMed )
Supplement: pcbi.1010013.s002.xlsx › _D__Lit-SI_disMut_edgotypes
Comprehensive investigation of the phenotype of MEF2C-related disorders in human patients: A systematic review.
Cooley Coleman JA et al.
American Journal of Medical Genetics. Part A, 2021
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.
Wang T et al.
Nature Communications, 2020
33004838 (PubMed )
Supplement: 41467_2020_18723_MOESM11_ESM.xlsx › Supplementary_Data_9
MEF2C Hypofunction in Neuronal and Neuroimmune Populations Produces MEF2C Haploinsufficiency Syndrome-like Behaviors in Mice.
Harrington AJ et al.
Biological Psychiatry, 2020
Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes.
Guo H et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
A Novel MEF2C Loss-of-Function Mutation Associated with Congenital Double Outlet Right Ventricle.
Lu CX et al.
Pediatric Cardiology, 2018
Fatal encephalopathy and congenital heart defects with MEF2C-related disorder.
Asagai Y et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 0
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