1.    Heterozygous variants in MYBPC1 are associated with an expanded neuromuscular phenotype beyond arthrogryposis. Hum Mutat. 2019 40(8):1115-1126

2.    GABBR2 mutations determine phenotype in rett syndrome and epileptic encephalopathy. Ann Neurol. 2017 82(3):466-478.

3.    Tofacitinib relieves symptoms of stimulator of interferon genes (STING)-associated vasculopathy with onset in infancy caused by 2 de novo variants in TMEM173. J Allergy Clin Immunol. 2017 139(4):1396-1399.e12.

1.    Understanding genetic basis of human diseases

(1)  Rare diseases gene discovery and functional characterization

(2)  Neurodevelopmental disorders

(3)  Neuromuscular disorders

2.    Understanding variant function using functional genomics

(1)  Variant effect during embryo development

(2)  Lineage tracing during embryo development