Area of research
Molecular Biology · Clinical Biochemistry
Research interest
Research interests include Medicine, Mitochondrial DNA, Disease, Biology, Mitochondrial disease, and Phenotype.
North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition 2025 guidelines for management of cyclic vomiting syndrome in children
Exploring the neurological features of individuals with germline <scp>PTEN</scp> variants: A multicenter study
Genotype-specific effects of elamipretide in patients with primary mitochondrial myopathy: a post hoc analysis of the MMPOWER-3 trial
Single-cell multi-omics of mitochondrial DNA disorders reveals dynamics of purifying selection across human immune cells
DLG4-related synaptopathy: a new rare brain disorder
CDKL5 deficiency disorder: Relationship between genotype, epilepsy, cortical visual impairment, and development
Severity Assessment in CDKL5 Deficiency Disorder
Diagnosis of ‘possible’ mitochondrial disease: an existential crisis
Mitochondrial disease phenotypes of 999 patients in the North American Mitochondrial Disease Consortium (NAMDC) (P1.141)
Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society
Revised consensus statement on the preventive and symptomatic care of patients with leukodystrophies
Recommendations for the Management of Strokelike Episodes in Patients With Mitochondrial Encephalomyopathy, Lactic Acidosis, and Strokelike Episodes
Solid organ transplantation in primary mitochondrial disease: Proceed with caution
NUDT21-spanning CNVs lead to neuropsychiatric disease and altered MeCP2 abundance via alternative polyadenylation
Whole exome sequencing and whole mitochondrial genome sequencing for molecular diagnosis of mitochondrial disorders: Lessons from 865 Cases
Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society
Phenotypic Heterogeneity of Genomic Disorders and Rare Copy-Number Variants