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Sarah South, Ph.D.

last modified 2014-02-20 08:58 — by Connie Walters

Associate Professor, University of Utah, School of Medicine, Department of Pathology

Sarah South, Ph.D.

Contact Info

Email Address: sarah.south (@)

Office Phone Number: (801) 583-2787 x 1-3530

Location: ARUP Laboratories

Research Lab: ARUP Institute for Clinical and Experimental Pathology

Supporting Staff:   Connie Walters  



  • Medical Director, Cytogenetics, Genetics Processing and Genomic Microarray, ARUP Laboratories, Inc.
  • Clinical Cytogenetics Fellowship Director

About Sarah South, Ph.D.

Dr. South received her PhD from the John Hopkins School of Medicine in human genetics and completed a postdoctoral research fellowship in prenatal genetics at the John Hopkins Hospital and a clinical cytogenetics fellowship at the University of Utah School of Medicine.  She is board certified in clinical cytogenetics by the American Board of Medical Genetics.

Dr. South serves on the American College of Medical Genetics Quality Assurance Committee; the Clinical Laboratory Standards Institute for FISH and Genomic Microarray Technologies; the International Standards for Cytogenomic Arrays Consortium, Evidence-Based Review Committee; and, the Genetic Testing Reference Material for Genomic Microarray Consortium.  She is also an active member of the Children's Oncology Group (COG) and Southwestern Oncology Group (SWOG) and is on the Board of Directors for the American Cytogenetics Conference.

Dr. South is the director of the ABMG-certified training program in clinical cytogentics and is a faculty member in the Genetic Counseling training program at the University of Utah.

Her research interests include the development of new technologies for enhanced detection and characterization of chromosome abnormalities.

Selected Publications

  • Geiersbach KB, South ST. Advances in Fetal Diagnostics for Genomic Alterations. In Oommen Mathew and Jatinder Bhatia (Ed.), Innovations in Neonatal-Perinatal Medicine. World Scientific. January 2011.
  • South ST, Carey JC. Human Cytogenetics. In Rudolph C, Lister G, Gershon A, First L, Rudolph A (Eds.), Rudolphs' Pediatrics (22nd Edition). McGraw-Hill.
  • Battaglia A, Carey JC, South ST, Wright TJ: Wolf-Hirschhorn Syndrome In: Pagon RA, Bird TC, Dolan CR, Stephens K, editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-.
  • 2002 Apr 29 2010. Available at
  • Hutton M. Kearney, Erik C. Thorland, Kerry K. Brown, Fabiola Quintero-Rivera, Sarah T. South. A Working Group of the American College of Medical Genetics (ACMG) Laboratory Quality Assurance Committee. (Accepted March 2011) ACMG standards and guidelines for interpretation and reporting of constitutional copy number variants (CNVs). Genetics in Medicine.
  • Hutton M. Kearney, Sarah T. South, Daynna J. Wolff, Allen Lamb, Ada Hamosh, Kathleen W. Rao, A Working Group of the American College of Medical Genetics. (Accepted March 2011) ACMG recommendations for the design and performance expectations for clinical genomic copy number microarrays intended for use in the postnatal setting for detection of constitutional abnormalities. Genetics in Medicine.
  • Battaglia A, Filippi T, South ST, Carey JC. (2009). Spectrum of epilepsy and electroencephalogram patterns in Wolf-Hirschhorn syndrome: experience with 87 patients. Dev Med Child Neurol, 51(5), 373-80.
  • Rowe LR, Lee JY, Rector L, Kaminsky EB, Brothman AR, Martin CL, South ST. (2009). U-type exchange is the most frequent mechanism for inverted duplication with terminal deletion rearrangements. J Med Genet, 46(10), 694-702.
  • South ST, Rector L, Aston E, Rowe L, Yang SP. (2010). Large Clinically Consequential Imbalances Detected at the Breakpoints of Apparently Balanced and Inherited Chromosome Rearrangements. J Mol Diagn. 2010 Sep;12(5):725-9.
  • Uddin N, Williams M, South ST (2010). Constitutional trisomy 8 mosaicism in a healthy bone marrow donor: Confirmation of first reported donor origin trisomy 8. Am J Hematol. 2010 Sep 9.
  • Ou Z, Stankiewicz P, Breman AM, Wiszniewska J, Cooper ML, South ST, Coleman K, Fernhoff PM, Deray MJ, Rosengren S, Roeder ER, Enciso VB, Patel A, Chinault AC, Beaudet AL, Lupski JR, Cheung SW. Observation and prediction of recurrent human translocations mediated by interchromosomal NAHR between nonhomologous chromosomes. Genome Res. 2011 Jan;21(1):33-46.
  • All Publications: Click Here

Honors and Awards

  • 2001 Recipient of the competitive American Society for Cell Biology Member Memorial Award
  • 2004 -2005 Recipient of a Primary Children’s Medical Center Foundation Innovative Research Grant
  • 2005 -2007 Children's Health Research Center (CHRC) and Primary Children's Medical Center Foundation Scholar
  • 2006 Recipient of the Student Award at the 2006 American Cytogenetics Conference

Professional Education

  • 1993-1996, BS, Utah State University (Biology), Logan, UT
  • 1996-2001, PhD, Johns Hopkins S.of Med.(Human Genetics), Baltimore, MD
  • 2001-2004, FELLOW, Johns Hopkins (Genetics), Baltimore, MD
  • 2004-2006, FELLOW, U. of Utah, S.of Med. Clinical Cytogenetics, SLC, UT