Area of research
Genetics · Neurology
Research interest
Research interests include Neuroblastoma Research and Treatments, Inflammatory Bowel Disease, Cystic Fibrosis Research Advances, and Genomic variations and chromosomal abnormalities.
Large-scale sequencing identifies multiple genes and rare variants associated with Crohn’s disease susceptibility
Mutations in <i>MYO9B</i> are associated with Charcot–Marie–Tooth disease type 2 neuropathies and isolated optic atrophy
Complex genetic signatures in immune cells underlie autoimmunity and inform therapy
Rare copy number variants in over 100,000 European ancestry subjects reveal multiple disease associations
Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndrome
Exome Sequencing Analysis Reveals Variants in Primary Immunodeficiency Genes in Patients With Very Early Onset Inflammatory Bowel Disease
Copy-Number Variation of the Glucose Transporter Gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion Syndrome
Developmental Dysplasia of the Hip: Linkage Mapping and Whole Exome Sequencing Identify a Shared Variant in <i>CX</i> <i>3</i> <i>CR</i> <i>1</i> in All Affected Members of a Large Multigeneration Family