Last Updated: 09/26/2026
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Found 12 publications
Current Status of Genetic Testing and Mosaic Variant Assessment in Somatic Overgrowth and Vascular Anomalies: Insights from the Cancer Genomics Consortium Working Group.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: February 11, 2026
Factors influencing somatic genetic testing for vascular anomalies at 2 academic centers.
Journal: Blood vessels, thrombosis & hemostasis
Published: November 26, 2025
Clinical, Psychosocial, and Care Coordination Concerns in Macrocephaly Capillary Malformation Syndrome: Insights From a Large International Survey.
Journal: Pediatric blood & cancer
Published: September 11, 2025
Whole-genome sequencing reveals individual and cohort level insights into chromosome 9p syndromes.
Journal: Genome medicine
Published: April 12, 2025
Sociodemographic Characteristics of Patients Seen at Vascular Anomaly Centers in the United States.
Journal: Pediatric blood & cancer
Published: December 11, 2024
RASopathies. Part I: Genetics and therapeutic considerations.
Journal: Journal of the American Academy of Dermatology
Published: December 03, 2024
RASopathies. Part II: Cutaneous and extracutaneous manifestations.
Journal: Journal of the American Academy of Dermatology
Published: August 17, 2024
Clinical and functional studies of MTOR variants in Smith-Kingsmore syndrome reveal deficits of circadian rhythm and sleep-wake behavior.
Journal: HGG advances
Published: April 08, 2024
Clinical and molecular characteristics of a novel rare de novo variant in PPP2CA in a patient with a developmental disorder, autism, and epilepsy.
Journal: Frontiers in cell and developmental biology
Published: October 02, 2022
High-depth next-generation sequencing panel testing in the evaluation of arteriovenous malformations.
Journal: American journal of medical genetics. Part A
Published: September 16, 2022
Factors affecting pathways to care for children and adolescents with complex vascular malformations: parental perspectives.
Journal: Orphanet journal of rare diseases
Published: March 30, 2022
Road map to developing a fellowship program in a tertiary care hospital.
Journal: Delaware medical journal
Published: March 25, 2015
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Last Updated: 09/26/2026