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Page 1
Development and Validation of a 34-Gene Inherited Cancer Predisposition Panel Using Next-Generation Sequencing.
Rosenthal SH, Sun W, Zhang K, Liu Y, Nguyen Q, Gerasimova A, Nery C, Cheng L, Castonguay C, Hiller E, Li J, Elzinga C, Wolfson D, Smolgovsky A, Chen R, Buller-Burckle A, Catanese J, Grupe A, Lacbawan F, Owen R. Rosenthal SH, et al. Among authors: buller burckle a. Biomed Res Int. 2020 Jan 22;2020:3289023. doi: 10.1155/2020/3289023. eCollection 2020. Biomed Res Int. 2020. PMID: 32090079 Free PMC article.
A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.
Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, Strom CM, Keiles SB, Higgins JJ. Karbassi I, et al. Among authors: buller burckle a. Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29. Hum Mutat. 2016. PMID: 26467025 Free PMC article.
Qualitative assessment of FMR1 (CGG)n triplet repeat status in normal, intermediate, premutation, full mutation, and mosaic carriers in both sexes: implications for fragile X syndrome carrier and newborn screening.
Hantash FM, Goos DG, Tsao D, Quan F, Buller-Burckle A, Peng M, Jarvis M, Sun W, Strom CM. Hantash FM, et al. Among authors: buller burckle a. Genet Med. 2010 Mar;12(3):162-73. doi: 10.1097/GIM.0b013e3181d0d40e. Genet Med. 2010. PMID: 20168238 Free article.
Development of a genomic DNA reference material panel for Rett syndrome (MECP2-related disorders) genetic testing.
Kalman LV, Tarleton JC, Percy AK, Aradhya S, Bale S, Barker SD, Bayrak-Toydemir P, Bridges C, Buller-Burckle AM, Das S, Iyer RK, Vo TD, Zvereff VV, Toji LH. Kalman LV, et al. Among authors: buller burckle am. J Mol Diagn. 2014 Mar;16(2):273-9. doi: 10.1016/j.jmoldx.2013.11.004. Epub 2014 Feb 7. J Mol Diagn. 2014. PMID: 24508304 Free PMC article.