Associated Papers
Clinical exome sequencing uncovers genetic disorders in neonates with suspected hypoxic-ischemic encephalopathy: A retrospective analysis.
Parobek CM et al.
Clinical Genetics, 2024
An Update on Reported Variants in the Skeletal Muscle α-Actin (ACTA1) Gene.
Clayton JS et al.
Human Mutation, 2024
40225930 (PubMed )
Supplement: 6496088.f2.xlsx › 2.2_Pathogenicity
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
Diagnostic yield and psychological outcomes among women pursuing trio-exome sequencing: Do women with recurrent anomalous fetal phenotypes experience more negative psychological outcomes?
Talati AN et al.
Prenatal Diagnosis, 2023
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
Structural and functional analysis of actin point mutations leading to nemaline myopathy to elucidate their role in actin function.
Glyakina AV et al.
Biophysical Reviews, 2022
Asymmetric muscle weakness due to ACTA1 mosaic mutations.
Lornage X et al.
Neurology, 2020
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