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Sarah South, Ph.D.

last modified 2009-06-29 15:25 — by Connie Walters

Assistant Professor, University of Utah, School of Medicine, Department of Pediatrics

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

Sarah South, Ph.D.

Contact Info

Email Address: sarah.south [at] aruplab.com

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  

 

Titles:

  • Medical Director, Cytogenetics, Genetics Processing and Molecular Cytogenetics, ARUP Laboratories, Inc.

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 is an advisor to the Clinical and Laboratory Standards Institute, Subcommittee on Fluorescence In Situ Hybridization (FISH) Methods for Medical Genetics, and oversees cytogenetic sample processing for Children's Oncology Group (COG) and Southwestern Oncology Group (SWOG).

Dr. South oversees the ABMG-certified fellowship in clinical cytogenetics and oversees the rotations through the cytogenetic laboratories for the Genetic Counseling students, Pediatric Residents, Pathology Fellows and Ob/Gyn Fellows. 

Dr. South is faculty in the University of Utah Graduate Program in Genetic Counseling and regularly lectures for the training programs in Genetic Counseling, Nursing, Medical Technology, Pediatrics, and Pathology.

Dr. South's research interests include the development of new technologies for enhanced detection and characterization of chromosome abnormalities.

Her areas of Directorship include the Genetic Processing and Cytogenetics Labs, along with the Molecular Cytogenetics lab at ARUP Laboratories, Inc. in Research Park.  She is an Assistant Professor of Pediatrics and  Adjunct Professor of Pathology at the University of Utah.



Selected Publications

  • Rowe LR, Lee J, Rector LS, Kaminsky E, Brothman AR, Martin CL, South ST. (16 Mar 2009). U-type exchange is the most frequent mechanism for inverted duplication with terminal deletion rearrangements. J Med Genet, EPUB, ahead of Print.
  • Battaglia A, Filippi T, South ST, Carey JCLA - eng. (2009). Spectrum of epilepsy and electroencephalogram patterns in Wolf-Hirschhorn syndrome: experience with 87 patients. Dev Med Child Neurol, 51(5), 373-80.
  • South ST, Lamb AN. (June 2009). Detecting genomic imbalances in prenatal diagnosis: main hurdles and recent advances. Expert Opin Med Diagn, 3(3), 219-225.
  • South ST, Whitby H, Maxwell T, Aston E, Brothman AR, Carey JC. (2008). Co-occurrence of 4p16.3 deletions with both paternal and maternal duplications of 11p15: Modification of the Wolf-Hirschhorn syndrome phenotype by genetic alterations predicted to result in either a Beckwith-Wiedemann or Russell-Silver phenotype. Am J Med Genet A, 146A(20), 2691-7.
  • South ST, Hannes F, Fisch GS, Vermeesch JR, Zollino M. (October 2008). Pathogenic Significance of Deletions Distal to the Currently Described Wolf-Hirschhorn Syndrome Critical Regions on 4p16.3. Am J Med Genet Suppl, 148C(4), 270-274.
  • Curry CJ, Mao R, Aston E, Mongia SK, Treisman T, Procter M, Chou B, Whitby H, South ST, Brothman AR. (2008). Homozygous deletions of a copy number change detected by array CGH: a new cause for mental retardation? Am J Med Genet A, 146A(15), 1903-10.
  • Rowe LR, Chandler B, Gray J, Chen Z, Lamb AN, South ST. (June 2008). Optimization and validation of an automated metaphase harvester. J Assoc Genet Technol, 34(2), 58-60.
  • South ST, Rope AF, Lamb AN, Aston E, Glaus N, Whitby H, Maxwell T, Zhu XL, Brothman AR. (2008). Expansion in size of a terminal deletion: a paradigm shift for parental follow-up studies. J Med Genet, 45(6), 391-5.
  • Aston E, Whitby H, Maxwell T, Glaus N, Cowley B, Lowry D, Zhu XL, Issa B, South ST, Brothman AR. (2008). Comparison of targeted and whole genome analysis of postnatal specimens using a commercially available array based comparative genomic hybridisation (aCGH) microarray platform. J Med Genet, 45(5), 268-74.
  • South ST, Chen Z, Brothman AR. (2008). Genomic medicine in prenatal diagnosis. Clin Obstet Gynecol, 51(1), 62-73.
  • Battaglia A, Filippi T, South ST, Carey JC. (SEP 2008, IN PRESS). Spectrum of epilepsy and EEG patterns in Wolf-Hirschhorn syndrome: experience with 87 patients. Dev Med Child Neurol.
  • South ST, Carey JC. (IN PRESS). Human Cytogenetics. In Rudolph C, Lister G, Gershon A, First L, Rudolph A (Eds.), Rudolphs' Pediatrics (22nd Edition). McGraw-Hill.
  • 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