Repnikova,Elena,A; Astbury,Caroline; Reshmi,Shalini,C; Ramsey,Sarah,N; Atkin,Joan,F; Thrush,Devon,Lamb; Mitchell,Anna,L; Pyatt,Robert,E; Reber,Kristina; Slavin,Thomas; Gastier-Foster,Julie,M. 2012. Microarray comparative genomic hybridization and cytogenetic characterization of tissue-specific mosaicism in three patients. AMERICAN JOURNAL OF MEDICAL GENETICS PART A. Vol. 158A, no. 8. (August): 1924-1933.
Fadel Alyaqoub, Robert E. Pyatt, Andrea Bailes, Amanda Brock, Carol Deeg, Aimee McKinney, Caroline Astbury, Shalini Reshmi, Kate P. Shane, Devon Lamb Thrush, Annemarie Sommer, and Julie M. Gastier-Foster. 2012. 12q14 Microdeletion Including a Partial Deletion of the HMGA2 Gene. American Journal of Medical Genetics Part A.
Pyatt RE, Astbury C. 2011. Interpretation of copy number alterations identified through clinical microarray-comparative genomic hybridization. Clinics In Laboratory Medicine. Vol. 31, no. 4. (December): e565.
Astbury C. 2011. Preface: Cytogenetics. Clinics In Laboratory Medicine. Vol. 31, no. 4. (December): exiii.
Astbury C. 2011. Preface: Cytogenetics. Clinics in laboratory medicine. Vol. 31, no. 4. (December): xiii-xv.
Talkowski ME, Mullegama SV, Rosenfeld JA, van Bon WM, Shen YP, Repnikova EA, Gastier-Foster J, Thrush Devon L, Kathiresan S, Ruderfer DM, Chiang C, Hanscom C, Ernst C, Lindgren AM, Morton CC, An Y, Astbury C, et al. 2011. Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder. American Journal Of Human Genetics. Vol. 89, no. 4. (October): 551-563.
Cottrell C, Mendell J, Hart-Kothari M, Ell D, Thrush D, Astbury C, Lamb Thrush D, Pastore M, Gastier-Foster JM, Pyatt R. 2011. Maternal uniparental disomy of chromosome 4 in a patient with limb-girdle muscular dystrophy 2E confirmed by SNP array technology. Clin Genet Epub. Vol. vol 81, no 6, no. January: 578-583.
Mendell JR, Rodino-Klapac LR, Rosales XQ, Coley BD, Galloway G, Lewis S, Malik V, Shilling C, Byrne BJ, Conlon T, Campbell KJ, Bremer WG, Taylor LE, Flanigan KM, Gastier-Foster JM, Astbury C, Kota J, Sahenk Z, Walker CM, Clark KR. 2010. Sustained alpha-sarcoglycan gene expression after gene transfer in limb-girdle muscular dystrophy, type 2D. Annals Of Neurology. Vol. 68, no. 5. (November): 629-638.
Cottrell CE, Prior TW, Pyatt R, Astbury C, Reshmi S, Bartholomew D, Atkin J, Manickam K, Thrush DL, Pastore M, Mendell J, Tsao CY, Al-Dahhak R, Newmeyer A, Gastier-Foster JM. 2010. Unexpected detection of dystrophin gene deletions by array comparative genomic hybridization. AMERICAN JOURNAL OF MEDICAL GENETICS PART A. Vol. 152A, no. 9. (September): 2301-2307.
Rosales XQ, Gastier-Foster JM, Lewis S, Malik V, Thrush DL, Astbury C, Pyatt R, Reshmi S, Sahenk Z, Mendell JR. 2010. Novel diagnostic features of dysferlinopathies. Muscle & Nerve. Vol. 42, no. 1. (July): 14-21.
Ballif BC, Theisen A, Rosenfeld JA, Traylor RN, Gastier-Foster J, Thrush DL, Astbury C, Bartholomew D, McBride KimL, Pyatt RE, Shane K, Smith WE, Banks V, Gallentine WB, Brock P, Rudd MK, Adam MP, Keene JA, Phillips JA, Pfotenhauer JP, Gowans GC, Stankiewicz P, Bejjani BA, Shaffer LG. 2010. Identification of a recurrent microdeletion at 17q23.1q23.2 flanked by segmental duplications associated with heart defects and limb abnormalities. American Journal Of Human Genetics. Vol. 86, no. 3. (March): 454-461.
Liang S, Bass HN, Gao H, Astbury C, Jamehdor MR, Qu Y. 2008. A pseudo-full mutation identified in fragile X assay reveals a novel base change abolishing an EcoRI restriction site. JOURNAL OF MOLECULAR DIAGNOSTICS. Vol. 10, no. 5. (September): 469-474.
Caroline Astbury. 2008. Genetic Testing: Fluorescent in situ hybridization. In Theory and Practice of Histological Techniques. Sixth ed. Edited by Bancroft and Gamble. Churchill Livingstone: Elsevier Ltd.
Astbury C, Christ LA, Aughton DJ, Cassidy SB, Fujimoto A, Pletcher BA, Schafer IA, Schwartz S. 2004. Delineation of complex chromosomal rearrangements: evidence for increased complexity. Human Genetics. Vol. 114, no. 5. (April): 448-457.
Astbury C, Christ LA, Aughton DJ, Cassidy SB, Kumar A, Eichler EE, Schwartz S. 2004. Detection of deletions in de novo "balanced" chromosome rearrangements: further evidence for their role in phenotypic abnormalities. GENETICS IN MEDICINE. Vol. 6, no. 2. (March): 81-89.
Jackson-Cook C, Zou Y, Turner K, Astbury C, Ware J. 2003. A novel tumorigenic human prostate epithelial cell line (M2205): molecular cytogenetic characterization demonstrates C-MYC amplification and jumping translocations. Cancer Genetics And Cytogenetics. Vol. 141, no. 1. (February): 56-64.
Astbury C, Jackson-Cook CK, Culp SH, Paisley TE, Ware JL. 2001. Suppression of tumorigenicity in the human prostate cancer cell line M12 via microcell-mediated restoration of chromosome 19. GENES CHROMOSOMES & CANCER. Vol. 31, no. 2. (June): 143-155.
Diane Sterchi and Caroline Astbury. 0. Molecular Pathology - In Situ Hybridization and Genetic Testing (Fluorescent in situ hybridization). In Theory and Practice of Histological Techniques. Edited by Bancroft.
Repnikova E, Astbury C, Reshmi S, Atkin J, Lamb Thrush D, Mitchell A, Pyatt R, Reber K, Ramsey S, Slavin T, Gastier-Foster J. Microarray Comparative Genomic Hybridization and Cytogenetic Characterization of Tissue-Specific Mosaicism in Three Patients. American Journal of Medical Genetics Part A.