Area of research
Surgery · Orthopedics and Sports Medicine
Research interest
Research focused on Genetics and Phenotype, with related work in Microcephaly, dNaM, Fibrodysplasia ossificans progressiva. Notable publications include 'Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly', 'Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation', and 'Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature'.
Barriers and facilitators to designing, maintaining, and utilizing rare disease patient registries: a scoping review protocol
A genetic mouse model mimicking MET related human osteofibrous dysplasia is characterized by delays in fracture repair and defective osteogenesis
CERT1 mutations perturb human development by disrupting sphingolipid homeostasis
Reduction of New Heterotopic Ossification ( <scp>HO</scp> ) in the <scp>Open‐Label</scp> , Phase 3 <scp>MOVE</scp> Trial of Palovarotene for Fibrodysplasia Ossificans Progressiva ( <scp>FOP</scp> )
Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature
Atypical COL3A1 variants (glutamic acid to lysine) cause vascular Ehlers–Danlos syndrome with a consistent phenotype of tissue fragility and skin hyperextensibility
Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation
Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly
Indexing Effects of Copy Number Variation on Genes Involved in Developmental Delay
Paraspinal ganglioneuroma in the proband of a large family with mild cutaneous manifestations of NF1, carrying a deep <i>NF1</i> intronic mutation