Area of research
Genetics · Pulmonary and Respiratory Medicine
Research interest
Research interests include Medicine, Phenotype, Genetics, Exome sequencing, Intensive care, and Pediatrics.
Biallelic LAMP3 variants in 5 families with interstitial lung disease: Evidence of a disease-gene association
High Concordance of Copy Number Variants Detected by Chromosomal Microarray and Exome Sequencing in Clinical Diagnostics
Exploring the unique characteristics of genes with dual autosomal dominant and recessive inheritance: mechanisms, phenotypes and candidate identification
Novel RRAGD Variants in Autosomal Dominant Kidney Hypomagnesemia and Therapeutic Perspectives
National Rapid Genome Sequencing in Neonatal Intensive Care
Unbiased phenotype and genotype matching maximizes gene discovery and diagnostic yield
Orbital nodular fasciitis in child with biallelic germline RBL2 variant