Area of research
Genetics · Agronomy and Crop Science
Research interest
Research interests include Medicine, Internal medicine, Biology, Hypotonia, Failure to thrive, and Lactic acidosis.
Isovaleric aciduria identified by newborn screening: Strategies to predict disease severity and stratify treatment
aRgus: Multilevel visualization of non-synonymous single nucleotide variants & advanced pathogenicity score modeling for genetic vulnerability assessment
Refining Genotypes and Phenotypes in KCNA2-Related Neurological Disorders
Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1