Area of research
Genetics · Physiology
Research interest
Research interests include Genomic variations and chromosomal abnormalities, Lysosomal Storage Disorders Research, Genomics and Rare Diseases, and Congenital heart defects research.
Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function
Loss of TNR causes a nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonus
Spinal Cord Stimulator Implant Infection Rates and Risk Factors: A Multicenter Retrospective Study
Spinal Cord Stimulator Related Infections: Findings From a Multicenter Retrospective Analysis of 2737 Implants
Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia
Folic acid supplementation and dietary folate intake, and risk of preeclampsia
Patients' Preferences for Biopsy Result Notification in an Era of Electronic Messaging Methods
Comparative profile of cutaneous adverse events: BRAF/MEK inhibitor combination therapy versus BRAF monotherapy in melanoma
Combined targeting of MEK and PI3K/mTOR effector pathways is necessary to effectively inhibit NRAS mutant melanoma in vitro and in vivo
The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP
Mutations in SRCAP, Encoding SNF2-Related CREBBP Activator Protein, Cause Floating-Harbor Syndrome