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Mucopolysaccharidosis type I newborn screening: Importance of second tier testing for ethnically diverse populations.
Am J Med Genet A. 2021 Jan;185(1):134-140. doi: 10.1002/ajmg.a.61930. Epub 2020 Oct 24.
Am J Med Genet A. 2021.
PMID: 33098355
Lysinuric protein intolerance: Pearls to detect this otherwise easily missed diagnosis.
Alqarajeh F, Omorodion J, Bosfield K, Shur N, Ferreira CR.
Alqarajeh F, et al. Among authors: bosfield k.
Transl Sci Rare Dis. 2020 Aug 3;5(1-2):81-86. doi: 10.3233/TRD-190035.
Transl Sci Rare Dis. 2020.
PMID: 33134088
Free PMC article.
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Pure Distal 7q Duplication: Describing a Macrocephalic Neurodevelopmental Syndrome, Case Report and Review of the Literature.
Bosfield K, Diaz J, Leon E.
Bosfield K, et al.
Mol Syndromol. 2021 Jun;12(3):159-168. doi: 10.1159/000513453. Epub 2021 Mar 29.
Mol Syndromol. 2021.
PMID: 34177432
Free PMC article.
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The impact of clinical genome sequencing in a global population with suspected rare genetic disease.
Thorpe E, Williams T, Shaw C, Chekalin E, Ortega J, Robinson K, Button J, Jones MC, Campo MD, Basel D, McCarrier J, Keppen LD, Royer E, Foster-Bonds R, Duenas-Roque MM, Urraca N, Bosfield K, Brown CW, Lydigsen H, Mroczkowski HJ, Ward J, Sirchia F, Giorgio E, Vaux K, Salguero HP, Lumaka A, Mubungu G, Makay P, Ngole M, Lukusa PT, Vanderver A, Muirhead K, Sherbini O, Lah MD, Anderson K, Bazalar-Montoya J, Rodriguez RS, Cornejo-Olivas M, Milla-Neyra K, Shinawi M, Magoulas P, Henry D, Gibson K, Wiafe S, Jayakar P, Salyakina D, Masser-Frye D, Serize A, Perez JE, Taylor A, Shenbagam S, Abou Tayoun A, Malhotra A, Bennett M, Rajan V, Avecilla J, Warren A, Arseneault M, Kalista T, Crawford A, Ajay SS, Perry DL, Belmont J, Taft RJ.
Thorpe E, et al. Among authors: bosfield k.
Am J Hum Genet. 2024 Jun 3:S0002-9297(24)00169-1. doi: 10.1016/j.ajhg.2024.05.006. Online ahead of print.
Am J Hum Genet. 2024.
PMID: 38843839
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Pseudo-hypertriglyceridemia in a 2-year-old male with global developmental delay, myopathy and adrenal hypoplasia.
Fu X, Williamson CP, Bosfield K.
Fu X, et al. Among authors: bosfield k.
J Mass Spectrom Adv Clin Lab. 2024 Feb 20;32:47-49. doi: 10.1016/j.jmsacl.2024.02.004. eCollection 2024 Apr.
J Mass Spectrom Adv Clin Lab. 2024.
PMID: 38419979
Free PMC article.
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Optimization of the biochemical genetics laboratory rotation using a multidesign approach to curriculum.
Bosfield K, Albert J, Cheng N, Swaringer T, Cusmano-Ozog K, Regier DS.
Bosfield K, et al.
Genet Med. 2023 Feb;25(2):100340. doi: 10.1016/j.gim.2022.11.008. Epub 2022 Dec 9.
Genet Med. 2023.
PMID: 36484781
Free article.
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