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- Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability.J Med Genet. 2014; 51: 806-813
- Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome.Am J Hum Genet. 2014; 95: 579-583
- PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature.J Med Genet. 2018; 55: 104-113
- Nerve conduction studies and needle EMG in very small children.Eur J Paediatric Neurol. 2012; 16: 285-291
- The spectrum of myotonic and myopathic disorders in a pediatric electromyography laboratory over 12 years.Pediatr Neurol. 2012; 47: 97-100
- Use of clinical and electrical myotonia to differentiate childhood myopathies.J Child Neurol. 2015; 30: 1300-1306
Conflicts of interest: The authors deny any conflicts of interest.