Dr Rocio Rius
- 2022Human mutation10.1002/humu.24453
Biallelic pathogenic variants in COX11 are associated with an infantile-onset mitochondrial encephalopathy.
- 2020Med (New York, N.Y.)10.1016/j.medj.2020.06.004
Fatal perinatal mitochondrial cardiac failure caused by recurrent duplications in the locus.
- 2020Genetics in medicine : official journal of the American College of Medical Genetics10.1038/s41436-020-0793-6
The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease.
- 2019Genetics in medicine : official journal of the American College of Medical Genetics10.1038/s41436-019-0568-0
Biparental inheritance of mitochondrial DNA in humans is not a common phenomenon.
- 2018Molecular genetics and metabolism10.1016/j.ymgme.2018.12.002
Cryptic intronic NBAS variant reveals the genetic basis of recurrent liver failure in a child.