Research Interests
Molecular pathology
Selected Publications
Eichler FS, Li J, Guo Y, Caruso PA, Bjonnes AC, Pan J, Booker JK, Lane JM, Tare A, Vlasac I, Hakonarson H, Gusella JF, Zhang J, Keating BJ, Saxena R. CSF1R mosaicism in a family with hereditary diffuse leukoencephalopathy with spheroids. 2016. Brain. 2016 May 5. pii: aww066. [Epub ahead of print].
Treece AL, Montgomery ND, Patel NM, Civalier CJ, Dodd LG, Gulley ML, Booker JK, Weck KE. FNA smears as a potential source of DNA for targeted next-generation sequencing of lung adenocarcinomas. 2016. Cancer Cytopathol. 2016 Feb 16. doi: 10.1002/cncy.21699. [Epub ahead of print].
Susswein LR, Marshall ML, Nusbaum R, Vogel Postula KJ, Weissman SM, Yackowski L, Vaccari EM, Bissonnette J, Booker JK, Cremona ML, Gibellini F, Murphy PD, Pineda-Alvarez DE, Pollevick GD, Xu Z, Richard G, Bale S, Klein RT, Hruska KS, Chung WK. Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 2015. Genet Med. 2015 Dec 17. doi: 10.1038/gim.2015.166. [Epub ahead of print].
Berg JS, Foreman AK, O’Daniel JM, Booker JK, Boshe L, Carey T, Crooks KR, Jensen BC, Juengst ET, Lee K, Nelson DK, Powell BC, Powell CM, Roche MI, Skrzynia C, Strande NT, Weck KE, Wilhelmsen KC, Evans JP. A semiquantitative metric for evaluating clinical actionability of incidental or secondary findings from genome-scale sequencing. 2015. Genet Med Aug 13 [Epub ahead of print].
Cancer Genome Atlas Network. Comprehensive Molecular Portraits of Human Breast Tumors. Nature. 2012 Oct 4;490(7418):61-70.
Kimani JW, Buchman CA, Booker JK, Huang BY, Castillo M, Powell CM, Weck KE. Sensorineural hearing loss in a pediatric population: association of congenital cytomegalovirus infection with intracranial abnormalities. 2010. Arch Otolaryngol Head Neck Surg, 136, 999-1004.
Booker JK. Monitoring Engraftment of Bone Marrow Transplant by DNA Fingerprinting. In Molecular Pathology of Hematolymphoid Diseases (CH Dunphy, ed, PT Cagle, series ed). Springer, 2010. 173-176.
Barker SD, Bale S, Booker J, Buller A, Das S, Friedman K, Godwin AK, Grody WW, Highsmith E, Kant JA, Lyon E, Mao R, Monaghan KG, Payne DA, Pratt VM, Schrijver I, Shrimpton AE, Spector E, Telatar M, Toji L, Weck K, Zehnbauer B, Kalman LV. Development and characterization of reference materials for MTHFR, SERPINA1, RET, BRCA1, and BRCA2 genetic testing. 2009. J Mol Diagn, 11, 553-561.
Langley MR, Booker JK, Evans JP, McLeod HL, Weck KE. Validation of clinical testing for warfarin sensitivity. Comparison of CYP2C9-VKORC1 genotyping assays and warfarin-dosing algorithms. 2009. J Mol Diagn, [Epub ahead of print Mar 26, 2009].
Ryan JL, Morgan DR, Dominguez RL, Thorne LB, Elmore SH, Mino-Kenudson M, Lauwers GY, Booker JK, Gulley ML. High levels of Epstein-Barr virus DNA in latently infected gastric adenocarcinoma. 2009. Lab Invest, 89, 80-90.
Fritchie K, Siintola E, Armao D, Lehesjoki AE, Marino T, Powell CM, Tennison M, Booker J, Koch S, Partanen S, Suzuki K, Tyynela J, Thorne LB. Novel mutation and the first prenatal screening of Cathepsin D deficiency (CLN10). 2008. Acta Neuropahol, Online September 2, 2008.
Susswein LR, Skrzyina C, Lange LA, Booker JK, Graham ML, Evans JP. Increased uptake of BRCA1/2 genetic testing among African American women with a recent diagnosis of breast cancer. 2008. J Clin Onc, 26, 32-6.
Quigley DI, Booker JK, Wolff DJ. The prothrombin 20209C>T sequence variant: to test or not to test. 2007. J Assoc Genet Technol, 33, 1-3.
Putcha, G.V., Bejjani, B.A., Bleoo, S., Booker, J.B., Carey, J.C., Carson, N., Das, S., Dempsey, M.A., Gastier-Foster, J.M., Greinwald, J.H., Hoffmann, M.L., Jeng, L.J.B., Denna, M.A., Khababa, I., Lilley, M., Mao, R., Muralidharan, K., Otani, I.M., Rehm, H.L., Schaefer, F., Seltzer, W.K., Spector, E.B., Springer, M.A., Weck, K.E., Wenstrup, R.J., Withrow, S., Wu, B., Zariwala, M.A., Schrijver, I. A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort. 2007. Genet Med, 9, 413.
Thorne, L.B., Civalier, C., Booker, J., Fan, H., Gulley, M.L. Analytic validation of a quantitative real-time PCR assay to measure CMV viral load in whole blood. 2007. Diagn Mol Pathol, 16, 73.
Basinger, A.A., Booker J.K., Frazier, D.M., Koeberl, D.D., Sullivan, J.A., Muenzer, J. Glutaric academia type 1 in patients of Lumbee heritage from North Carolina. 2006. Mol Genet Metab, 88, 90.
Libby, E.N., Booker, J.K., Gulley, M.L., Garcia, D., Moll, S. False-negative factor V Leiden genetic testing in a patient with recurrent deep venous thrombosis. 2006. Am J Hematol, 81, 284.
Scanga, L., Chaing, S., Powell, C., Aylsworth, A.S., Harrell, L.J., Henshaw, N.G., Civalier, C.J., Thorne, L.B., Weck, K., Booker, J., Gulley, M.L. Diagnosis of human congenital cytomegalovirus infection by amplification of viral DNA from dried blood spots on perinatal cards. 2006. J Mol Diag, 8, 240.
Fan H., Civalier, C., Booker, J.K., Gulley, M.L., Prior, T.W., Farber, R.A. Detection of common disease-causing mutations in mitochondrial DNA (mitochondrial encephalomyopathy, lactic acidosis with stroke-like episodes MTTL1 3243A>G and myoclonic epilepsy associated with ragged-red fibers MTTK 8344A>G) by real-time polymerase chain reaction. 2006. J Mol Diag, 8, 277.
Booker, J. Molecular Assessment of Bone Marrow Transplants. In Molecular Diagnostics for the Clinical Laboratorian, Second Edition (W.B. Coleman and G.J. Tsongalis, ed.). The Humana Press, Inc., Totowa, New Jersey, 2005.
Fan, H, Booker, J., McCandless, SE, Shashi, V, Fleming, A, Farber, RA. Mosaicism for an FMR1 gene deletion in a fragile X female. 2005. Am J Med Genet A, 136, 214.
List of publications from PubMed
