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Penetrance of Hemochromatosis in HFE Genotypes Resulting in p.Cys282Tyr and p.[Cys282Tyr];[His63Asp] in the eMERGE Network.
Gallego CJ, Burt A, Sundaresan AS, Ye Z, Shaw C, Crosslin DR, Crane PK, Fullerton SM, Hansen K, Carrell D, Kuivaniemi H, Derr K, de Andrade M, McCarty CA, Kitchner TE, Ragon BK, Stallings SC, Papa G, Bochenek J, Smith ME, Aufox SA, Pacheco JA, Patel V, Friesema EM, Erwin AL, Gottesman O, Gerhard GS, Ritchie M, Motulsky AG, Kullo IJ, Larson EB, Tromp G, Brilliant MH, Bottinger E, Denny JC, Roden DM, Williams MS, Jarvik GP. Gallego CJ, et al. Among authors: erwin al. Am J Hum Genet. 2015 Oct 1;97(4):512-20. doi: 10.1016/j.ajhg.2015.08.008. Epub 2015 Sep 10. Am J Hum Genet. 2015. PMID: 26365338 Free PMC article.
Congenital erythropoietic porphyria: Recent advances.
Erwin AL, Desnick RJ. Erwin AL, et al. Mol Genet Metab. 2019 Nov;128(3):288-297. doi: 10.1016/j.ymgme.2018.12.008. Epub 2018 Dec 27. Mol Genet Metab. 2019. PMID: 30685241 Free PMC article. Review.
Noninvasive prenatal screening (NIPS) for fetal chromosome abnormalities in a general-risk population: An evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG).
Dungan JS, Klugman S, Darilek S, Malinowski J, Akkari YMN, Monaghan KG, Erwin A, Best RG; ACMG Board of Directors. Electronic address: documents@acmg.net. Dungan JS, et al. Genet Med. 2023 Feb;25(2):100336. doi: 10.1016/j.gim.2022.11.004. Epub 2022 Dec 16. Genet Med. 2023. PMID: 36524989 Free article.
Noninvasive prenatal screening (NIPS) for fetal chromosome abnormalities in a general-risk population: An evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG).
Dungan JS, Klugman S, Darilek S, Malinowski J, Akkari YMN, Monaghan KG, Erwin A, Best RG; ACMG Board of Directors. Dungan JS, et al. Genet Med. 2023 Aug;25(8):100874. doi: 10.1016/j.gim.2023.100874. Epub 2023 Jun 27. Genet Med. 2023. PMID: 37378664 No abstract available.
Liver Transplantation for Acute Intermittent Porphyria: Biochemical and Pathologic Studies of the Explanted Liver.
Yasuda M, Erwin AL, Liu LU, Balwani M, Chen B, Kadirvel S, Gan L, Fiel MI, Gordon RE, Yu C, Clavero S, Arvelakis A, Naik H, Martin LD, Phillips JD, Anderson KE, Sadagoparamanujam VM, Florman SS, Desnick RJ. Yasuda M, et al. Among authors: erwin al. Mol Med. 2015 Jun 5;21(1):487-95. doi: 10.2119/molmed.2015.00099. Mol Med. 2015. PMID: 26062020 Free PMC article.
71 results