Collagen VI-related limb-girdle syndrome caused by frequent mutation in COL6A3 gene with conflicting reports of pathogenicity. Neuromuscul Disord 30, 483-491 (2020).
Expanding the disease phenotype of ADSSL1-associated myopathy in non-Korean patients. Neuromuscul Disord 30, 310-314 (2020).
Four Individuals with a Homozygous Mutation in Exon 1f of the Gene and Associated Myasthenic Features. Genes (Basel) 11, (2020).
Recurrent TTN metatranscript-only c.39974-11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy. Hum Mutat 41, 403-411 (2020).
Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness. Genet Med 22, 1478-1488 (2020).
Congenital Titinopathy: Comprehensive characterization and pathogenic insights. Ann Neurol 83, 1105-1124 (2018).
Complex phenotypes associated with STIM1 mutations in both coiled coil and EF-hand domains. Neuromuscul Disord 27, 861-872 (2017).
Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weakness. Orphanet J Rare Dis 12, 173 (2017).
Improving genetic diagnosis in Mendelian disease with transcriptome sequencing. Sci Transl Med 9, (2017).