Selected publications
2019
Journal Articles Refereed
- Early diagnosis of Pearson syndrome in neonatal intensive care following rapid mitochondrial genome sequencing in tandem with exome sequencing. European Journal of Human Genetics. 27. 2019
2018
Journal Articles Refereed
- The clinical significance of oropharyngeal cultures in young children with cystic fibrosis. European Respiratory Journal. 51. 2018
