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Developmental validation of a fully integrated sample-to-profile rapid human identification system for processing single-source reference buccal samples.
Jovanovich S, Bogdan G, Belcinski R, Buscaino J, Burgi D, Butts ELR, Chear K, Ciopyk B, Eberhart D, El-Sissi O, Franklin H, Gangano S, Gass J, Harris D, Hennessy L, Kindwall A, King D, Klevenberg J, Li Y, Mehendale N, McIntosh R, Nielsen B, Park C, Pearson F, Schueren R, Stainton N, Troup C, Vallone PM, Vangbo M, Woudenberg T, Wyrick D, Williams S. Jovanovich S, et al. Among authors: gass j. Forensic Sci Int Genet. 2015 May;16:181-194. doi: 10.1016/j.fsigen.2014.12.004. Epub 2015 Jan 8. Forensic Sci Int Genet. 2015. PMID: 25621924 Free article.
Bi-allelic Alterations in AEBP1 Lead to Defective Collagen Assembly and Connective Tissue Structure Resulting in a Variant of Ehlers-Danlos Syndrome.
Blackburn PR, Xu Z, Tumelty KE, Zhao RW, Monis WJ, Harris KG, Gass JM, Cousin MA, Boczek NJ, Mitkov MV, Cappel MA, Francomano CA, Parisi JE, Klee EW, Faqeih E, Alkuraya FS, Layne MD, McDonnell NB, Atwal PS. Blackburn PR, et al. Among authors: gass jm. Am J Hum Genet. 2018 Apr 5;102(4):696-705. doi: 10.1016/j.ajhg.2018.02.018. Epub 2018 Mar 29. Am J Hum Genet. 2018. PMID: 29606302 Free PMC article.
The clinical heterogeneity of late-onset MELAS.
Atwal HK, Gass J, Blackburn PR, Atwal PS. Atwal HK, et al. Among authors: gass j. Mol Genet Metab Rep. 2017 Apr 15;11:30. doi: 10.1016/j.ymgmr.2017.04.003. eCollection 2017 Jun. Mol Genet Metab Rep. 2017. PMID: 28443237 Free PMC article. No abstract available.
Maple syrup urine disease: mechanisms and management.
Blackburn PR, Gass JM, Vairo FPE, Farnham KM, Atwal HK, Macklin S, Klee EW, Atwal PS. Blackburn PR, et al. Appl Clin Genet. 2017 Sep 6;10:57-66. doi: 10.2147/TACG.S125962. eCollection 2017. Appl Clin Genet. 2017. PMID: 28919799 Free PMC article. Review.
581 results