Area of research
Genetics · Surgery
Research interest
Research interests include Vascular Malformations and Hemangiomas, Vascular Anomalies and Treatments, Tracheal and airway disorders, and Genomics and Rare Diseases.
RNA sequencing provides functional insights and diagnostic resolution in previously unsolved rare disease cases
Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment
The microRNA processor<i>DROSHA</i>is a candidate gene for a severe progressive neurological disorder
Endocannabinoid dysfunction in neurological disease: neuro-ocular DAGLA-related syndrome
Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder
Osteoporosis and skeletal dysplasia caused by pathogenic variants in SGMS2
De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Callosum, Axon, Cardiac, Ocular, and Genital Defects
The spectrum of <i>DNMT3A</i> variants in Tatton–Brown–Rahman syndrome overlaps with that in hematologic malignancies
<i>RASA1</i> somatic mutation and variable expressivity in capillary malformation/arteriovenous malformation (CM/AVM) syndrome
Impaired PIEZO1 function in patients with a novel autosomal recessive congenital lymphatic dysplasia
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