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
Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness.
Töpf A et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
32528171 (PubMed )
Supplement: 41436_2020_840_MOESM10_ESM.xlsx › .
Structure of the eukaryotic protein O-mannosyltransferase Pmt1-Pmt2 complex.
Bai L et al.
Nature Structural & Molecular Biology, 2019
31285605 (PubMed )
Supplement: NIHMS1530499-supplement-2.pdf
Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness.
Johnson K et al.
Skeletal Muscle, 2018
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