Area of research
Genetics · Pharmacology
Research interest
Research interests include Biology, Trinucleotide repeat expansion, Genetics, Exome sequencing, Medicine, and Allele.
Risk and Resilience Variants in the Retinoic Acid Metabolic and Developmental Pathways Associated with Risk of FASD Outcomes
PharmVar GeneFocus: <i>CYP3A5</i>
TCERG1L allelic variation is associated with cisplatin-induced hearing loss in childhood cancer, a PanCareLIFE study
Length of Uninterrupted CAG, Independent of Polyglutamine Size, Results in Increased Somatic Instability, Hastening Onset of Huntington Disease
Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in <i>GLS</i>
Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy
Outcome Definition Influences the Relationship between Genetic Polymorphisms of ERCC1, ERCC2, SLC22A2 and Cisplatin Nephrotoxicity in Adult Testicular Cancer Patients
Germline De Novo Mutations in ATP1A1 Cause Renal Hypomagnesemia, Refractory Seizures, and Intellectual Disability
Gain-of-function KCNJ6 Mutation in a Severe Hyperkinetic Movement Disorder Phenotype