Area of research
Genetics · Pediatrics, Perinatology and Child Health
Research interest
Research interests include Genomics and Rare Diseases, Genomic variations and chromosomal abnormalities, Genetics and Neurodevelopmental Disorders, and Prenatal Screening and Diagnostics.
Biallelic LAMP3 variants in 5 families with interstitial lung disease: Evidence of a disease-gene association
<i>SPTSSA</i> variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia
Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations
An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids
Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science
Reanalysis of Clinical Exome Sequencing Data
Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder
Use of Exome Sequencing for Infants in Intensive Care Units
Positive predictive value estimates for cell-free noninvasive prenatal screening from data of a large referral genetic diagnostic laboratory
Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases
Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing
Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders
Prenatal chromosomal microarray analysis in a diagnostic laboratory; experience with >1000 cases and review of the literature