Area of research
Genetics · Molecular Biology
Research interest
Research interests include Genomics and Rare Diseases, Metabolism and Genetic Disorders, Mitochondrial Function and Pathology, and Genetics and Neurodevelopmental Disorders.
T cell activation contributes to purifying selection against the MELAS‐associated m.3243A>G pathogenic variant in blood
<i>SPTSSA</i> variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia
Circulating markers of NADH-reductive stress correlate with mitochondrial disease severity
On the dynamic and even reversible nature of Leigh syndrome: Lessons from human imaging and mouse models
MitoCarta3.0: an updated mitochondrial proteome now with sub-organelle localization and pathway annotations
De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism
Purifying Selection against Pathogenic Mitochondrial DNA in Human T Cells
Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science
De novo mutations in TOMM70, a receptor of the mitochondrial import translocase, cause neurological impairment
Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7