Article
Genomic profiling informs diagnoses and treatment in vascular anomalies.
Nature medicine - 1 Jun 2023
Li Dong, Sheppard Sarah E, March Michael E, Battig Mark R, Surrey Lea F, Srinivasan Abhay S, Matsuoka Leticia S, Tian Lifeng, Wang Fengxiang, Seiler Christoph, Dayneka Jill, Borst Alexandra J, Matos Mary C, Paulissen Scott M, Krishnamurthy Ganesh, Nriagu Bede, Sikder Tamjeed, Casey Melissa, Williams Lydia, Rangu Sneha, O'Connor Nora, Thomas Alexandria, Pinto Erin, Hou Cuiping, Nguyen Kenny, Pellegrino da Silva Renata, Chehimi Samar N, Kao Charlly, Biroc Lauren, Britt Allison D, Queenan Maria, Reid Janet R, Napoli Joseph A, Low David M, Vatsky Seth, Treat James, Smith Christopher L, Cahill Anne Marie, Snyder Kristen M, Adams Denise M, Dori Yoav, Hakonarson Hakon
Abstract excerpt
Vascular anomalies are malformations or tumors of the blood or lymphatic vasculature and can be life-threatening. Although molecularly targeted therapies can be life-saving, identification of the molecular etiology is often impeded by lack of accessibility to affected tissue samples, mosaicism or insufficient sequencing depth. In a cohort of 356 participants with vascular anomalies, including 104 with primary...
Topics
- Humans
- Mutation
- Genetic Testing
- Vascular Malformations
- Alleles
- Lymphatic Abnormalities
- Genomics