Area of research
Immunology · Oncology
Research interest
Research interests include Cancer Immunotherapy and Biomarkers, Immunotherapy and Immune Responses, Fetal and Pediatric Neurological Disorders, and Immune Cell Function and Interaction.
Genomic analysis of 11,555 probands identifies 60 dominant congenital heart disease genes
Recessive genetic contribution to congenital heart disease in 5,424 probands
<i>TRIM71</i> mutations cause a neurodevelopmental syndrome featuring ventriculomegaly and hydrocephalus
Mutation of key signaling regulators of cerebrovascular development in vein of Galen malformations
Genetic dysregulation of an endothelial Ras signaling network in vein of Galen malformations
Impaired neurogenesis alters brain biomechanics in a neuroprogenitor-based genetic subtype of congenital hydrocephalus
Integrated mutational landscape analysis of uterine leiomyosarcomas
A phase 2 evaluation of pembrolizumab for recurrent Lynch‐like versus sporadic endometrial cancers with microsatellite instability
PPIL4 is essential for brain angiogenesis and implicated in intracranial aneurysms in humans
<i>DIAPH1</i> Variants in Non–East Asian Patients With Sporadic Moyamoya Disease
A phase II evaluation of pembrolizumab in recurrent microsatellite instability-high (MSI-H) endometrial cancer patients with Lynch-like versus MLH-1 methylated characteristics (NCT02899793)
Exome sequencing implicates genetic disruption of prenatal neuro-gliogenesis in sporadic congenital hydrocephalus
Expression Analysis and Significance of PD-1, LAG-3, and TIM-3 in Human Non–Small Cell Lung Cancer Using Spatially Resolved and Multiparametric Single-Cell Analysis
Whole-exome sequencing of cervical carcinomas identifies activating ERBB2 and PIK3CA mutations as targets for combination therapy
Comprehensive Genetic Analysis of Follicular Thyroid Carcinoma Predicts Prognosis Independent of Histology
Impaired HLA Class I Antigen Processing and Presentation as a Mechanism of Acquired Resistance to Immune Checkpoint Inhibitors in Lung Cancer