Area of research
Genetics · Pediatrics, Perinatology and Child Health
Research interest
Research interests include Genomics and Rare Diseases, Genomic variations and chromosomal abnormalities, Connective tissue disorders research, and Prenatal Screening and Diagnostics.
Progressive liver, kidney, and heart degeneration in children and adults affected by TULP3 mutations
IFIH1 loss-of-function variants contribute to very early-onset inflammatory bowel disease
Pathogenic alleles in microtubule, secretory granule and extracellular matrix-related genes in familial keratoconus
Embryonic lethal genetic variants and chromosomally normal pregnancy loss
Analysis of Whole Genome Sequencing in a Cohort of Individuals with PHACE Syndrome Suggests Dysregulation of RAS/PI3K Signaling
Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome
Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy
TBX6-associated congenital scoliosis (TACS) as a clinically distinguishable subtype of congenital scoliosis: further evidence supporting the compound inheritance and TBX6 gene dosage model
ROBO4 variants predispose individuals to bicuspid aortic valve and thoracic aortic aneurysm
A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome
Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with “Corner Fractures”
Multilevel analyses of SCN5A mutations in arrhythmogenic right ventricular dysplasia/cardiomyopathy suggest non-canonical mechanisms for disease pathogenesis
GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene
The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery
New Tools for Mendelian Disease Gene Identification: PhenoDB Variant Analysis Module; and GeneMatcher, a Web-Based Tool for Linking Investigators with an Interest in the Same Gene
Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss
Truncating mutations in the last exon of <i>NOTCH3</i> cause lateral meningocele syndrome