Sharova M et al. Congenital myopathy as a new phenotype caused by two undescribed variants in ASCC1 gene. Am J Med Genet A. 2022 Oct;188(10):3100-3105. PMID: 35838082.
Marais A et al. Further clinical and genetic evidence of ASC-1 complex dysfunction in congenital neuromuscular disease. Eur J Med Genet. 2022 Aug;65(8):104537. PMID: 35690317.
Bradinova I et al. Spinal muscular atrophy with congenital bone fractures 2 caused by a rare loss-of-function ASCC1 gene mutation in two Bulgarian Roma patients. Clin Genet. 2022 Jul;102(1):78-79. PMID: 35338657.
Correa ARE et al. Utility of fetal whole exome sequencing in the etiological evaluation and outcome of nonimmune hydrops fetalis. Prenat Diagn. 2021;41(11):1414-1424. PMID: 34302381.
Meunier J et al. Inherited Defects of the ASC-1 Complex in Congenital Neuromuscular Diseases. Int J Mol Sci. 2021;22(11):6039. PMID: 34204919
Rosano KK et al. Biallelic ASCC1 variants including a novel intronic variant result in expanded phenotypic spectrum of spinal muscular atrophy with congenital bone fractures 2 (SMABF2). Am J Med Genet A. 2021;185(7):2190-2197. PMID: 33931933.
Lu W et al. Novel compound heterozygous pathogenic variants in ASCC1 in a Chinese patient with spinal muscular atrophy with congenital bone fractures 2 : Evidence supporting a "Definitive" gene-disease relationship. Mol Genet Genomic Med. 2020;8(5):e1212. PMID: 32160656.
Giuffrida MG et al. A new case of SMABF2 diagnosed in stillbirth expands the prenatal presentation and mutational spectrum of ASCC1. Am J Med Genet A. 2020;182(3):508-512. PMID: 31880396.
Böhm J et al. Novel ASCC1 mutations causing prenatal-onset muscle weakness with arthrogryposis and congenital bone fractures. J Med Genet. 2019;56(9):617-621. PMID: 30327447.
Shamseldin HE et al. Molecular autopsy in maternal-fetal medicine. Genet Med. 2018;20(4):420-427. PMID: 28749478.
Oliveira J et al. The new neuromuscular disease related with defects in the ASC-1 complex: report of a second case confirms ASCC1 involvement. Clin Genet. 2017;92(4):434-439. PMID: 28218388.
Knierim E et al. Mutations in Subunits of the Activating Signal Cointegrator 1 Complex Are Associated with Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures. Am J Hum Genet. 2016;98(3):473-489. PMID: 26924529.
ASCC1