Associated Papers
Exome sequencing in undiagnosed congenital myopathy reveals new genes and refines genes-phenotypes correlations.
de Feraudy Y et al.
Genome Medicine, 2024
38982518 (PubMed )
Supplement: 13073_2024_1353_MOESM1_ESM.xlsx › Feuil2
Early prenatal diagnosis of causative homozygous variants in ASCC1 in a fetus with cystic hygroma and additional homozygous variants of unknown significance associated with a neurological phenotype not visible in early gestation: Dual diagnosis or not?
Favier M et al.
Prenatal Diagnosis, 2024
Multiple molecular diagnoses in the field of intellectual disability and congenital anomalies: 3.5% of all positive cases.
Racine C et al.
Journal of Medical Genetics, 2023
Congenital myopathy as a new phenotype caused by two undescribed variants in ASCC1 gene.
Sharova M et al.
American Journal of Medical Genetics. Part A, 2022
Biallelic ASCC1 variants including a novel intronic variant result in expanded phenotypic spectrum of spinal muscular atrophy with congenital bone fractures 2 (SMABF2).
Rosano KK et al.
American Journal of Medical Genetics. Part A, 2021
Inherited Defects of the ASC-1 Complex in Congenital Neuromuscular Diseases.
Meunier J et al.
International Journal of Molecular Sciences, 2021
Next-Generation Sequencing Gene Panels and "Solo" Clinical Exome Sequencing Applied in Structurally Abnormal Fetuses.
Pauta M et al.
Fetal Diagnosis and Therapy, 2021
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.
Lu W et al.
Molecular Genetics & Genomic Medicine, 2020
A new case of SMABF2 diagnosed in stillbirth expands the prenatal presentation and mutational spectrum of ASCC1.
Giuffrida MG et al.
American Journal of Medical Genetics. Part A, 2020
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
31589614 (PubMed )
Supplement: pgen.1008409.s001.xlsx › P_LP_Variants
Novel ASCC1 mutations causing prenatal-onset muscle weakness with arthrogryposis and congenital bone fractures.
Böhm J et al.
Journal of Medical Genetics, 2019
The new neuromuscular disease related with defects in the ASC-1 complex: report of a second case confirms ASCC1 involvement.
Oliveira J et al.
Clinical Genetics, 2017
Mutations in Subunits of the Activating Signal Cointegrator 1 Complex Are Associated with Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures.
Knierim E et al.
American Journal of Human Genetics, 2016
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