Area of research
Genetics · Surgery
Research interest
Research interests include Vascular Malformations and Hemangiomas, Cleft Lip and Palate Research, Craniofacial Disorders and Treatments, and Vascular Malformations Diagnosis and Treatment.
An endothelial SOX18–mevalonate pathway axis enables repurposing of statins for infantile hemangioma
Non–beta blocker enantiomers of propranolol and atenolol inhibit vasculogenesis in infantile hemangioma
<i>PBX‐WNT‐P63‐IRF6</i>pathway in nonsyndromic cleft lip and palate
Knockdown of Crispld2 in zebrafish identifies a novel network for nonsyndromic cleft lip with or without cleft palate candidate genes
Somatic MAP2K1 Mutations Are Associated with Extracranial Arteriovenous Malformation
Craniofacial and extracraniofacial anomalies in craniofacial microsomia: A multicenter study of 755 patients
Blue Rubber Bleb Nevus (BRBN) Syndrome Is Caused by Somatic TEK (TIE2) Mutations
Somatic Activating Mutations in GNAQ and GNA11 Are Associated with Congenital Hemangioma
Lymphatic and Other Vascular Malformative/Overgrowth Disorders Are Caused by Somatic Mutations in PIK3CA
A Somatic MAP3K3 Mutation Is Associated with Verrucous Venous Malformation
Endothelial Cells from Capillary Malformations Are Enriched for Somatic GNAQ Mutations
Regulatory variant in<i><scp>FZD</scp>6</i>gene contributes to nonsyndromic cleft lip and palate in an African‐American family
Further evidence suggesting a role for variation in <i>ARHGAP29</i> variants in nonsyndromic cleft lip/palate
<i>RASA1</i>Mutations and Associated Phenotypes in 68 Families with Capillary Malformation-Arteriovenous Malformation
Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis
PIK3CA Activating Mutations in Facial Infiltrating Lipomatosis
Germline Mutations in RASA1 Are Not Found in Patients with Klippel-Trenaunay Syndrome or Capillary Malformation with Limb Overgrowth
Somatic Mosaic Activating Mutations in PIK3CA Cause CLOVES Syndrome