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
Advancing precision medicine through the integration of clinical cardiovascular genetics - An Asian perspective.
Balakrishnan ID et al.
Genetics in Medicine Open, 2024
Genotype-Phenotype Correlations in Human Diseases Caused by Mutations of LINC Complex-Associated Genes: A Systematic Review and Meta-Summary.
Storey EC et al.
Cells, 2022
36552829 (PubMed )
Supplement: cells-11-04065-s001.zip › Storey___Fuller_Supplementary_Materials_S2_Data_extraction.xlsx › INM_proteins
Emery-Dreifuss muscular dystrophy.
Heller SA et al.
Muscle & Nerve, 2020
31840275 (PubMed )
Supplement: MUS-61-436-s001.docx
X-Linked Emery-Dreifuss Muscular Dystrophy: Study Of X-Chromosome Inactivation and Its Relation with Clinical Phenotypes in Female Carriers.
Viggiano E et al.
Genes, 2019
Obesity and pericallosal lipoma in X-linked emery-dreifuss muscular dystrophy: A case report - Does Emerin play a role in adipocyte differentiation?
Spanu F et al.
World Journal of Radiology, 2018
Cardiac and muscle imaging findings in a family with X-linked Emery-Dreifuss muscular dystrophy.
Carboni N et al.
Neuromuscular Disorders : Nmd, 2012
Novel and recurrent EMD mutations in patients with Emery-Dreifuss muscular dystrophy, identify exon 2 as a mutation hot spot.
Brown CA et al.
Journal of Human Genetics, 2011
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