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
An Update on Reported Variants in the Skeletal Muscle α-Actin (ACTA1) Gene.
Clayton JS et al.
Human Mutation, 2024
Variants in ACTC1 underlie distal arthrogryposis accompanied by congenital heart defects.
Chong JX et al.
Hgg Advances, 2023
37457373 (PubMed )
Supplement: mmc2.xlsx › Table_S1
Variants in ACTC1 underlie distal arthrogryposis accompanied by congenital heart defects.
Chong JX et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
36945405 (PubMed )
Supplement: media-2.xlsx › Table_S1
Progression or Not - A Small Natural History Study of Genetical Confirmed Congenital Myopathies.
Werlauff U et al.
Journal of Neuromuscular Diseases, 2021
Diagnostic yield of exome sequencing in myopathies: Experience of a Slovenian tertiary centre.
Babić Božović I et al.
Plos One, 2021
Impairments in contractility and cytoskeletal organisation cause nuclear defects in nemaline myopathy.
Ross JA et al.
Acta Neuropathologica, 2019
Whole Exome Sequencing Is the Preferred Strategy to Identify the Genetic Defect in Patients With a Probable or Possible Mitochondrial Cause.
Theunissen TEJ et al.
Frontiers in Genetics, 2018
Prevalence and phenotypes of congenital myopathy due to α-actin 1 gene mutations.
Witting N et al.
Muscle & Nerve, 2016
Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1).
Laing NG et al.
Human Mutation, 2009
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