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Genetic landscape and novel disease mechanisms from a large LGMD cohort of 4656 patients.
Nallamilli BRR, Chakravorty S, Kesari A, Tanner A, Ankala A, Schneider T, da Silva C, Beadling R, Alexander JJ, Askree SH, Whitt Z, Bean L, Collins C, Khadilkar S, Gaitonde P, Dastur R, Wicklund M, Mozaffar T, Harms M, Rufibach L, Mittal P, Hegde M. Nallamilli BRR, et al. Among authors: schneider t. Ann Clin Transl Neurol. 2018 Dec 1;5(12):1574-1587. doi: 10.1002/acn3.649. eCollection 2018 Dec. Ann Clin Transl Neurol. 2018. PMID: 30564623 Free PMC article.
Multi-Institutional FASTQ File Exchange as a Means of Proficiency Testing for Next-Generation Sequencing Bioinformatics and Variant Interpretation.
Davies KD, Farooqi MS, Gruidl M, Hill CE, Woolworth-Hirschhorn J, Jones H, Jones KL, Magliocco A, Mitui M, O'Neill PH, O'Rourke R, Patel NM, Qin D, Ramos E, Rossi MR, Schneider TM, Smith GH, Zhang L, Park JY, Aisner DL. Davies KD, et al. J Mol Diagn. 2016 Jul;18(4):572-9. doi: 10.1016/j.jmoldx.2016.03.002. Epub 2016 May 4. J Mol Diagn. 2016. PMID: 27155050 Free article.
Clinical Validation and Implementation of a Targeted Next-Generation Sequencing Assay to Detect Somatic Variants in Non-Small Cell Lung, Melanoma, and Gastrointestinal Malignancies.
Fisher KE, Zhang L, Wang J, Smith GH, Newman S, Schneider TM, Pillai RN, Kudchadkar RR, Owonikoko TK, Ramalingam SS, Lawson DH, Delman KA, El-Rayes BF, Wilson MM, Sullivan HC, Morrison AS, Balci S, Adsay NV, Gal AA, Sica GL, Saxe DF, Mann KP, Hill CE, Khuri FR, Rossi MR. Fisher KE, et al. J Mol Diagn. 2016 Mar;18(2):299-315. doi: 10.1016/j.jmoldx.2015.11.006. Epub 2016 Jan 20. J Mol Diagn. 2016. PMID: 26801070 Free PMC article.
2,181 results