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Genomic profiling informs diagnoses and treatment in vascular anomalies.
Nat Med. 2023 Jun;29(6):1530-1539. doi: 10.1038/s41591-023-02364-x. Epub 2023 Jun 1.
Nat Med. 2023.
PMID: 37264205
Mosaic pathogenic variants in AKT3 cause capillary malformation and undergrowth.
Bolli A, Nriagu B, Britt AD, Toole AD, Treat J, Srinivasan A, Sheppard SE.
Bolli A, et al. Among authors: britt ad.
Am J Med Genet A. 2023 May;191(5):1442-1446. doi: 10.1002/ajmg.a.63121. Epub 2023 Jan 25.
Am J Med Genet A. 2023.
PMID: 36695285
Free PMC article.
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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.
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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.
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Genotypic and phenotypic variability of 22q11.2 microdeletions - an institutional experience.
Manno GC, Segal GS, Yu A, Xu F, Ray JW, Cooney E, Britt AD, Jain SK, Goldblum RM, Robinson SS, Dong J.
Manno GC, et al. Among authors: britt ad.
AIMS Mol Sci. 2021;8(4):257-274. doi: 10.3934/molsci.2021020. Epub 2021 Dec 9.
AIMS Mol Sci. 2021.
PMID: 34938854
Free PMC article.
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Genotypic and phenotypic variability of 22q11.2 microduplications: An institutional experience.
Yu A, Turbiville D, Xu F, Ray JW, Britt AD, Lupo PJ, Jain SK, Shattuck KE, Robinson SS, Dong J.
Yu A, et al. Among authors: britt ad.
Am J Med Genet A. 2019 Nov;179(11):2178-2189. doi: 10.1002/ajmg.a.61345. Epub 2019 Sep 3.
Am J Med Genet A. 2019.
PMID: 31479204
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A De novo HDAC2 variant in a patient with features consistent with Cornelia de Lange syndrome phenotype.
Wagner VF, Hillman PR, Britt AD, Ray JW, Farach LS.
Wagner VF, et al. Among authors: britt ad.
Am J Med Genet A. 2019 May;179(5):852-856. doi: 10.1002/ajmg.a.61101. Epub 2019 Feb 25.
Am J Med Genet A. 2019.
PMID: 30806031
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