Area of research
Molecular Biology · Genetics
Research interest
Research interests include Biochemical and Molecular Research, Genetics and Neurodevelopmental Disorders, Genetic Neurodegenerative Diseases, and Cytomegalovirus and herpesvirus research.
Precision medicine integrating whole-genome sequencing, comprehensive metabolomics, and advanced imaging
An unsupervised learning approach to identify novel signatures of health and disease from multimodal data
Predispositional genome sequencing in healthy adults: design, participant characteristics, and early outcomes of the PeopleSeq Consortium
Profound Perturbation of the Metabolome in Obesity Is Associated with Health Risk
Identification of Misclassified ClinVar Variants via Disease Population Prevalence
Aberrant GlyRS-HDAC6 interaction linked to axonal transport deficits in Charcot-Marie-Tooth neuropathy
Precision medicine screening using whole-genome sequencing and advanced imaging to identify disease risk in adults
Whole-genome sequencing identifies common-to-rare variants associated with human blood metabolites
Profiling of Short-Tandem-Repeat Disease Alleles in 12,632 Human Whole Genomes
Plasma metabolomic profiles enhance precision medicine for volunteers of normal health
Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism