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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. Among authors: snyder km. Nat Med. 2023 Jun;29(6):1530-1539. doi: 10.1038/s41591-023-02364-x. Epub 2023 Jun 1. Nat Med. 2023. PMID: 37264205
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. Among authors: snyder km. 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.
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. Among authors: snyder km. Pediatr Blood Cancer. 2023 May 17:e30419. doi: 10.1002/pbc.30419. Online ahead of print. Pediatr Blood Cancer. 2023. PMID: 37194624
Ablation of SYK Kinase from Expanded Primary Human NK Cells via CRISPR/Cas9 Enhances Cytotoxicity and Cytokine Production.
Dahlvang JD, Dick JK, Sangala JA, Kennedy PR, Pomeroy EJ, Snyder KM, Moushon JM, Thefaine CE, Wu J, Hamilton SE, Felices M, Miller JS, Walcheck B, Webber BR, Moriarity BS, Hart GT. Dahlvang JD, et al. Among authors: snyder km. J Immunol. 2023 Apr 15;210(8):1108-1122. doi: 10.4049/jimmunol.2200488. J Immunol. 2023. PMID: 36881874 Free PMC article.
Critical role of the ventral temporal lobe in naming.
Snyder KM, Forseth KJ, Donos C, Rollo PS, Fischer-Baum S, Breier J, Tandon N. Snyder KM, et al. Epilepsia. 2023 May;64(5):1200-1213. doi: 10.1111/epi.17555. Epub 2023 Mar 10. Epilepsia. 2023. PMID: 36806185 Free PMC article.
How we approach lymphedema in the pediatric population.
Pateva I, Greene AK, Snyder KM. Pateva I, et al. Among authors: snyder km. Pediatr Blood Cancer. 2022 Aug;69 Suppl 3:e29908. doi: 10.1002/pbc.29908. Pediatr Blood Cancer. 2022. PMID: 36070213 Review.
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