Caroline Astbury, PhD :: Nationwide Children's Hospital, Columbus, Ohio
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Caroline Astbury, PhD

Caroline  Astbury, PhD

Clinical Pathology
Director, Cytogenetic & Molecular Genetics Laboratory

Pathology and Laboratory Medicine
Clinical Pathology Team

Pathology Fellowship

Contact Information

Laboratory Medicine/ Anatomic Pathology
700 Children's Dr.
Columbus, OH 43205 [ map ]
PH: (614) 722-5385



  • Female

Languages Spoken:

  • English

Education and Training

Undergraduate School

  • University of Exeter
    Date Completed: 05/14/1989

Graduate School

  • Virginia Commonwealth University
    Date Completed: 05/14/2000


  • Clinical Pathology

Date of Appointment at Nationwide Children’s Hospital:

  • 01/14/2008


  • Polan MB, Pastore MT, Steingass K, Hashimoto S, Thrush DL, Pyatt R, Reshmi S, Gastier-Foster JM, Astbury C, McBride KL. 2014. Neurodevelopmental disorders among individuals with duplication of 4p13 to 4p12 containing a GABA(A) receptor subunit gene cluster.  EUROPEAN JOURNAL OF HUMAN GENETICS. Vol. 22, no. 1. (January): 105-109.
  • Pfau RB, Thrush DL, Hamelberg E, Bartholomew D, Botes S, Pastore M, Tan C, del Gaudio D, Gastier-Foster JM, Astbury C. 2013. MCPH1 deletion in a newborn with severe microcephaly and premature chromosome condensation.  EUROPEAN JOURNAL OF MEDICAL GENETICS. Vol. 56, no. 11. (November): 609-613.
  • Repnikova EA, Rosenfeld JA, Bailes A, Weber C, Erdman L, McKinney A, Ramsey S, Hashimoto S, Thrush DL, Astbury C, Reshmi SC, Shaffer LG, Gastier-Foster JM, Pyatt RE. 2013. Characterization of copy number variation in genomic regions containing STR loci using array comparative genomic hybridization.  FORENSIC SCIENCE INTERNATIONAL-GENETICS. Vol. 7, no. 5. (September): 475-481.
  • Hickey SE, Thrush DL, Walters-Sen L, Reshmi SC, Astbury C, Gastier-Foster JM, Atkin J. 2013. A case of an atypically large proximal 15q deletion as cause for Prader-Willi syndrome arising from a de novo unbalanced translocation.  EUROPEAN JOURNAL OF MEDICAL GENETICS. Vol. 56, no. 9. (September): 510-514.
  • Hickey SE, Biswas S, Thrush DL, Pyatt RE, Gastier-Foster JM, Astbury C, Atkin J. 2013. Multigeneration family with short stature, developmental delay, and dysmorphic features due to 4q27-q28.1 microdeletion.  EUROPEAN JOURNAL OF MEDICAL GENETICS. Vol. 56, no. 9. (September): 521-525.
  • Rosales XQ, Malik V, Sneh A, Chen L, Lewis S, Kota J, Gastier-Foster JM, Astbury C, Pyatt R, Reshmi S, Rodino-Klapac LR, Clark KR, Mendell JR, Sahenk Z. 2013. Impaired regeneration in LGMD2A supported by increased PAX7-positive satellite cell content and muscle-specific microrna dysregulation.  MUSCLE & NERVE. Vol. 47, no. 5. (May): 731-739.
  • Beunders G, Voorhoeve E, Golzio C, Pardo LM, Rosenfeld JA, Talkowski ME, Simonic I, Lionel AC, Vergult S, Pyatt RE, van de Kamp J, Nieuwint A, Weiss MM, Rizzu P, Verwer LE, van Spaendonk R, Shen YP, Wu BL, Yu T, Yu Y, Chiang C, Gusella JF, Lindgren AM, Morton CC, van Binsbergen E, Bulk S, Van Rossem E, Vanakker O, Armstrong R, Park SM, Greenhalgh L, Maye U, Neill NJ, Abbott KM, Sell S, Ladda R, Farber DM, Bader PI, Cushing T, Drautz JM, Konczal L, Nash P, de los Reyes E, Carter MT, Hopkins E, Marshall CR, Osborne LR, Gripp KW, Thrush DL, Hashimoto S, Gastier-Foster JM, Astbury C, Ylstra B, Meijers-Heijboer H, Posthuma D, Menten B, Mortier G, Scherer SW, Eichler EE, Girirajan S, Katsanis N, Groffen AJ, Sistermans EA. 2013. Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus.  AMERICAN JOURNAL OF HUMAN GENETICS. Vol. 92, no. 2. (February): 210-220.
  • Bowden SA, Cozzi C, Hickey SE, Thrush DL, Astbury C, Nuthakki S. 2013. Autosomal dominant pseudohypoaldosteronism type 1 in an infant with salt wasting crisis associated with urinary tract infection and obstructive uropathy.  CASE REPORTS IN ENDOCRINOLOGY. Vol. 2013, no. January: e524647.
  • Alyaqoub F, Pyatt RE, Bailes A, Brock A, Deeg C, McKinney A, Astbury C, Reshmi S, Shane KP, Thrush DL, Sommer A, Gastier-Foster JM. 2012. 12q14 microdeletion associated with HMGA2 gene disruption and growth restriction.  AMERICAN JOURNAL OF MEDICAL GENETICS PART A. Vol. 158A, no. 11. (November): 2925-2930.
  • Repnikova EA, Astbury C, Reshmi SC, Ramsey SN, Atkin JF, Thrush DL, Mitchell AL, Pyatt RE, Reber K, Slavin T, Gastier-Foster JM. 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.
  • Cottrell C, Mendell J, Hart-Kothari M, Ell D, Thrush D, Astbury C, Lamb Thrush D, Pastore M, Gastier-Foster JM, Pyatt R. 2012. Maternal uniparental disomy of chromosome 4 in a patient with limb-girdle muscular dystrophy 2E confirmed by SNP array technology.  CLINICAL GENETICS. Vol. 81, no. 6. (June): 578-583.
  • 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.
  • 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. 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.
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