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
Comprehensive evaluation of AlphaMissense predictions by evidence quantification for variants of uncertain significance.
Kurtovic-Kozaric A et al.
Frontiers in Genetics, 2024
39720176 (PubMed )
Supplement: Table1.xlsx › Supplementary_Table_1
A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases.
Kingsmore SF et al.
American Journal of Human Genetics, 2022
36007526 (PubMed )
Supplement: mmc2.xlsx › Table_S8
The longest reported sibling survivors of a severe form of congenital myasthenic syndrome with the ALG14 pathogenic variant.
Katata Y et al.
American Journal of Medical Genetics. Part A, 2022
An in vitro assay for enzymatic studies on human ALG13/14 heterodimeric UDP-N-acetylglucosamine transferase.
Wang CD et al.
Frontiers in Cell and Developmental Biology, 2022
Genomic screening in rare disorders: New mutations and phenotypes, highlighting ALG14 as a novel cause of severe intellectual disability.
Kvarnung M et al.
Clinical Genetics, 2018
Early and lethal neurodegeneration with myasthenic and myopathic features: A new ALG14-CDG.
Schorling DC et al.
Neurology, 2017
Select a paper to view details