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2023 8
2024 3

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Page 1
Genomic profiling informs diagnoses and treatment in vascular anomalies.
Li D, Sheppard SE, March ME, Battig MR, Surrey LF, Srinivasan AS, Matsuoka LS, Tian L, Wang F, Seiler C, Dayneka J, Borst AJ, Matos MC, Paulissen SM, Krishnamurthy G, Nriagu B, Sikder T, Casey M, Williams L, Rangu S, O'Connor N, Thomas A, Pinto E, Hou C, Nguyen K, Pellegrino da Silva R, Chehimi SN, Kao C, Biroc L, Britt AD, Queenan M, Reid JR, Napoli JA, Low DM, Vatsky S, Treat J, Smith CL, Cahill AM, Snyder KM, Adams DM, Dori Y, Hakonarson H. Li D, et al. Nat Med. 2023 Jun;29(6):1530-1539. doi: 10.1038/s41591-023-02364-x. Epub 2023 Jun 1. Nat Med. 2023. PMID: 37264205 Free PMC article.
Lymphatic disorders caused by mosaic, activating KRAS variants respond to MEK inhibition.
Sheppard SE, March ME, Seiler C, Matsuoka LS, Kim SE, Kao C, Rubin AI, Battig MR, Khalek N, Schindewolf E, O'Connor N, Pinto E, Priestley JR, Sanders VR, Niazi R, Ganguly A, Hou C, Slater D, Frieden IJ, Huynh T, Shieh JT, Krantz ID, Guerrero JC, Surrey LF, Biko DM, Laje P, Castelo-Soccio L, Nakano TA, Snyder K, Smith CL, Li D, Dori Y, Hakonarson H. Sheppard SE, et al. JCI Insight. 2023 May 8;8(9):e155888. doi: 10.1172/jci.insight.155888. JCI Insight. 2023. PMID: 37154160 Free PMC article.
Pathogenic variants in PIK3CA are associated with clinical phenotypes of kaposiform lymphangiomatosis, generalized lymphatic anomaly, and central conducting lymphatic anomaly.
Grenier JM, Borst AJ, Sheppard SE, Snyder KM, Li D, Surrey LF, Al-Ibraheemi A, Weber DR, Treat JR, Smith CL, Laje P, Dori Y, Adams DM, Acord M, Srinivasan AS. Grenier JM, et al. Pediatr Blood Cancer. 2023 May 17:e30419. doi: 10.1002/pbc.30419. Online ahead of print. Pediatr Blood Cancer. 2023. PMID: 37194624 Free PMC article.
Microcystic lymphatic malformations in Turner syndrome are due to somatic mosaicism of PIK3CA.
Nriagu BN, Williams LS, Brewer N, Surrey LF, Srinivasan AS, Li D, Britt A, Treat J, Crowley TB, O'Connor N, Ganguly A, Low D, Queenan M, Drivas TG, Zackai EH, Adams DM, Hakonarson H, Snyder KM, Sheppard SE. Nriagu BN, et al. Am J Med Genet A. 2024 Jan;194(1):64-69. doi: 10.1002/ajmg.a.63385. Epub 2023 Sep 13. Am J Med Genet A. 2024. PMID: 37705207 Free PMC article.
Updates in Genetic Testing for Head and Neck Vascular Anomalies.
Woodis KM, Garlisi Torales LD, Wolf A, Britt A, Sheppard SE. Woodis KM, et al. Oral Maxillofac Surg Clin North Am. 2024 Feb;36(1):1-17. doi: 10.1016/j.coms.2023.09.001. Epub 2023 Oct 20. Oral Maxillofac Surg Clin North Am. 2024. PMID: 37867039 Review.