Area of research
Genetics · Surgery
Research interest
Research interests include Biology, Genetics, Exome sequencing, Locus (genetics), Mutation, and Indel.
A genome-wide association study of anorexia nervosa suggests a risk locus implicated in dysregulated leptin signaling
Analysis of 589,306 genomes identifies individuals resilient to severe Mendelian childhood diseases
GRIN2D Recurrent De Novo Dominant Mutation Causes a Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers
Genetic predisposition to neuroblastoma mediated by a LMO1 super-enhancer polymorphism
Inherited bone marrow failure associated with germline mutation of ACD, the gene encoding telomere protein TPP1
Low concordance of multiple variant-calling pipelines: practical implications for exome and genome sequencing
Mutations in PDGFRB Cause Autosomal-Dominant Infantile Myofibromatosis