Publications

Export 5 results:
Author Title [ Year(Asc)]
Filters: First Letter Of Last Name is R and Author is Riley, Lisa G  [Clear All Filters]
2019
Rius, R. et al. Clinical Spectrum and Functional Consequences Associated with Bi-Allelic Pathogenic Variants. J Clin Med 8, (2019).
Riley, L. G. et al. Recessive DES cardio/myopathy without myofibrillar aggregates: intronic splice variant silences one allele leaving only missense L190P-desmin. Eur J Hum Genet 27, 1267-1273 (2019).
2017
Gold, W. A. et al. A novel mutation in GMPPA in siblings with apparent intellectual disability, epilepsy, dysmorphism, and autonomic dysfunction. Am J Med Genet A 173, 2246-2250 (2017).
2016
Heimer, G. et al. MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder. Am J Hum Genet 99, 1229-1244 (2016).
Alodaib, A. et al. Whole-exome sequencing identifies novel variants in PNPT1 causing oxidative phosphorylation defects and severe multisystem disease. Eur J Hum Genet 25, 79-84 (2016).