Sarah T South

Summary

Affiliation: University of Utah
Country: USA

Publications

  1. ncbi request reprint Comprehensive analysis of Wolf-Hirschhorn syndrome using array CGH indicates a high prevalence of translocations
    Sarah T South
    Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, UT, USA
    Eur J Hum Genet 16:45-52. 2008
  2. ncbi request reprint Two unique patients with novel microdeletions in 4p16.3 that exclude the WHS critical regions: implications for critical region designation
    Sarah T South
    Department of Pediatrics, Division of Medical Genetics, University of Utah, Salt Lake City, Utah 84132 2117, USA
    Am J Med Genet A 143:2137-42. 2007
  3. ncbi request reprint A new genomic mechanism leading to cri-du-chat syndrome
    Sarah T South
    Department of Pediatrics, Division of Medical Genetics, University of Utah, Salt Lake City, Utah, USA
    Am J Med Genet A 140:2714-20. 2006
  4. doi request reprint 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
    Sarah T South
    Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, Utah, USA
    Am J Med Genet A 146:2691-7. 2008
  5. ncbi request reprint Detection of a de novo interstitial 2q microdeletion by CGH microarray analysis in a patient with limb malformations, microcephaly and mental retardation
    Annika M Svensson
    Cytogenetics Laboratory, Department of Pediatrics, University of Utah, Salt Lake City, UT 84132 2117, USA
    Am J Med Genet A 143:1348-53. 2007
  6. ncbi request reprint Brachymesomelic dysplasia with Peters anomaly of the eye results from disruptions of the X chromosome near the SHOX and SOX3 genes
    Steven B Bleyl
    Department of Pediatrics, Division of Medical Genetics, University of Utah School of Medicine, Salt Lake City, Utah 84132
    Am J Med Genet A 143:2785-95. 2007
  7. doi request reprint Genomic medicine in prenatal diagnosis
    Sarah T South
    Department of Pediatrics, University of Utah, Salt Lake City, Utah, USA
    Clin Obstet Gynecol 51:62-73. 2008
  8. doi request reprint Molecular inversion probe array for the genetic evaluation of stillbirth using formalin-fixed, paraffin-embedded tissue
    Leslie R Rowe
    Institute for Clinical and Experimental Pathology, ARUP Laboratories, Salt Lake City, UT 84108 1221, USA
    J Mol Diagn 15:466-72. 2013
  9. doi request reprint Chromosomal loss of 3q26.3-3q26.32, involving a partial neuroligin 1 deletion, identified by genomic microarray in a child with microcephaly, seizure disorder, and severe intellectual disability
    Alison Millson
    ARUP Institute for Clinical and Experimental Pathology, ARUP Laboratories, Salt Lake City, Utah, USA
    Am J Med Genet A 158:159-65. 2012
  10. doi request reprint Chromosomal structural rearrangements: detection and elucidation of mechanisms using cytogenomic technologies
    Sarah T South
    Cytogenetics, Genomic Microarray, Genetic Processing at ARUP Laboratories, 500 Chipeta Way, Salt Lake City, UT 84108, USA
    Clin Lab Med 31:513-24, vii. 2011

Collaborators

Detail Information

Publications23

  1. ncbi request reprint Comprehensive analysis of Wolf-Hirschhorn syndrome using array CGH indicates a high prevalence of translocations
    Sarah T South
    Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, UT, USA
    Eur J Hum Genet 16:45-52. 2008
    ..Analysis of clinical manifestations of each patient also revealed that patients with an unbalanced translocation often presented with exceptions to some expected phenotypes...
  2. ncbi request reprint Two unique patients with novel microdeletions in 4p16.3 that exclude the WHS critical regions: implications for critical region designation
    Sarah T South
    Department of Pediatrics, Division of Medical Genetics, University of Utah, Salt Lake City, Utah 84132 2117, USA
    Am J Med Genet A 143:2137-42. 2007
    ..These patients also emphasize the difficulty of mapping clinical manifestations common to many aneusomy syndromes...
  3. ncbi request reprint A new genomic mechanism leading to cri-du-chat syndrome
    Sarah T South
    Department of Pediatrics, Division of Medical Genetics, University of Utah, Salt Lake City, Utah, USA
    Am J Med Genet A 140:2714-20. 2006
    ..This illustrates a new genomic mechanism of chromosome rearrangement leading to cri-du-chat syndrome and should provide significant information for the medical management of patients with other terminal deletion syndromes...
  4. doi request reprint 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
    Sarah T South
    Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, Utah, USA
    Am J Med Genet A 146:2691-7. 2008
    ....
  5. ncbi request reprint Detection of a de novo interstitial 2q microdeletion by CGH microarray analysis in a patient with limb malformations, microcephaly and mental retardation
    Annika M Svensson
    Cytogenetics Laboratory, Department of Pediatrics, University of Utah, Salt Lake City, UT 84132 2117, USA
    Am J Med Genet A 143:1348-53. 2007
    ..The malformations in our patient may be caused by deletion of a regulatory element far upstream of the HOXD cluster...
  6. ncbi request reprint Brachymesomelic dysplasia with Peters anomaly of the eye results from disruptions of the X chromosome near the SHOX and SOX3 genes
    Steven B Bleyl
    Department of Pediatrics, Division of Medical Genetics, University of Utah School of Medicine, Salt Lake City, Utah 84132
    Am J Med Genet A 143:2785-95. 2007
    ..Analysis of the Xq27.1 breakpoint localized it to a 90 kb interval 3' of the SOX3 gene, supporting a novel role of SOX3 misexpression in the development of Peters anomaly of the eye...
  7. doi request reprint Genomic medicine in prenatal diagnosis
    Sarah T South
    Department of Pediatrics, University of Utah, Salt Lake City, Utah, USA
    Clin Obstet Gynecol 51:62-73. 2008
    ....
  8. doi request reprint Molecular inversion probe array for the genetic evaluation of stillbirth using formalin-fixed, paraffin-embedded tissue
    Leslie R Rowe
    Institute for Clinical and Experimental Pathology, ARUP Laboratories, Salt Lake City, UT 84108 1221, USA
    J Mol Diagn 15:466-72. 2013
    ..This study highlights the benefits of using MIP array analysis for identification of genomic alterations in FFPE stillbirth autopsy tissue. ..
  9. doi request reprint Chromosomal loss of 3q26.3-3q26.32, involving a partial neuroligin 1 deletion, identified by genomic microarray in a child with microcephaly, seizure disorder, and severe intellectual disability
    Alison Millson
    ARUP Institute for Clinical and Experimental Pathology, ARUP Laboratories, Salt Lake City, Utah, USA
    Am J Med Genet A 158:159-65. 2012
    ..The same size deletion was subsequently found in her healthy, asymptomatic, adult mother...
  10. doi request reprint Chromosomal structural rearrangements: detection and elucidation of mechanisms using cytogenomic technologies
    Sarah T South
    Cytogenetics, Genomic Microarray, Genetic Processing at ARUP Laboratories, 500 Chipeta Way, Salt Lake City, UT 84108, USA
    Clin Lab Med 31:513-24, vii. 2011
    ....
  11. pmc Mandibulofacial dysostosis in a patient with a de novo 2;17 translocation that disrupts the HOXD gene cluster
    David A Stevenson
    Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, Utah 84132, USA
    Am J Med Genet A 143:1053-9. 2007
    ..Based on the agreement of our findings with one previous case of mandibulofacial dysostosis with a 2q31.1 transocation, we hypothesize that misexpression of genes in the HOXD gene cluster produced the described phenotype in this patient...
  12. ncbi request reprint ACMG Standards and Guidelines for constitutional cytogenomic microarray analysis, including postnatal and prenatal applications: revision 2013
    Sarah T South
    1 ARUP Laboratories, Salt Lake City, Utah, USA 2 Department of Pathology, University of Utah, Salt Lake City, Utah, USA
    Genet Med 15:901-9. 2013
    ..To assist clinical laboratories in validation of microarray methodologies for constitutional applications, the American College of Medical Genetics and Genomics has produced the following revised professional standards and guidelines...
  13. pmc Large clinically consequential imbalances detected at the breakpoints of apparently balanced and inherited chromosome rearrangements
    Sarah T South
    Institute for Clinical and Experimental Pathology, University of Utah, Salt Lake City, Utah, USA
    J Mol Diagn 12:725-9. 2010
    ....
  14. pmc Using VAAST to identify an X-linked disorder resulting in lethality in male infants due to N-terminal acetyltransferase deficiency
    Alan F Rope
    Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, 84112, USA
    Am J Hum Genet 89:28-43. 2011
    ..Here we provide evidence of a human genetic disorder resulting from direct impairment of N-terminal acetylation, one of the most common protein modifications in humans...
  15. doi request reprint Pathogenic significance of deletions distal to the currently described Wolf-Hirschhorn syndrome critical regions on 4p16.3
    Sarah T South
    ARUP Laboratories, Salt Lake City, UT 84108, USA
    Am J Med Genet C Semin Med Genet 148:270-4. 2008
    ....
  16. pmc Deletions involving genes WHSC1 and LETM1 may be necessary, but are not sufficient to cause Wolf-Hirschhorn Syndrome
    Erica F Andersen
    1 Cytogenetics Department, ARUP Laboratories, Salt Lake City, UT, USA 2 Department of Pathology, University of Utah, Salt Lake City, UT, USA
    Eur J Hum Genet 22:464-70. 2014
    ....
  17. ncbi request reprint Prenatal detection of an interstitial deletion in 4p15 in a fetus with an increased nuchal skin fold measurement
    Sarah T South
    Department of Gynecology and Obstetrics, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA
    Fetal Diagn Ther 20:58-63. 2005
    ..Only rarely is it associated with other types of chromosome abnormalities. We report the prenatal finding of an increased NF in a fetus with an interstitial 4p deletion...
  18. ncbi request reprint Unexpected cytogenetic finding in acute lymphoblastic leukemia: a case of del(5q) with a cryptic t(12;21)
    Sarah T South
    Cancer Genet Cytogenet 168:177-8. 2006
  19. ncbi request reprint A reciprocal translocation 46,XY,t(8;9)(p11.2;q13) in a bladder exstrophy patient disrupts CNTNAP3 and presents evidence of a pericentromeric duplication on chromosome 9
    Simeon A Boyadjiev
    McKusick Nathans Institute of Genetic Medicine, The Johns Hopkins University School of Medicine, 733 N Broadway, BRB 469, Baltimore, MD 21205, USA
    Genomics 85:622-9. 2005
    ....
  20. doi request reprint Homozygous deletions of a copy number change detected by array CGH: a new cause for mental retardation?
    Cynthia J Curry
    Genetic Medicine Central California, USA
    Am J Med Genet A 146:1903-10. 2008
    ..Such homozygous deletions should be viewed as potentially clinically relevant...
  21. ncbi request reprint Reevaluating confined placental mosaicism
    Gail Stetten
    Department of Gynecology and Obstetrics, Johns Hopkins University School of Medicine, Baltimore, Maryland 21287 2501, USA
    Am J Med Genet A 131:232-9. 2004
    ....
  22. pmc Transcript level alterations reflect gene dosage effects across multiple tissues in a mouse model of down syndrome
    Pascal Kahlem
    Max Planck Institute for Molecular Genetics, D 14195, Berlin, Germany
    Genome Res 14:1258-67. 2004
    ..However, several genes escaped this rule, suggesting that they may be controlled by additional tissue-specific regulatory mechanisms revealed in the trisomic situation...
  23. ncbi request reprint Peroxisomal membrane protein import does not require Pex17p
    Courtney C Harper
    Department of Biological Chemistry, The Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA
    J Biol Chem 277:16498-504. 2002
    ..Based on these and other results, we propose that Pex17p acts primarily in the matrix protein import pathway and does not play an important role in PMP import...