Sarah T South
Affiliation: ARUP Institute for Clinical and Experimental Pathology
- Chromosomal structural rearrangements: detection and elucidation of mechanisms using cytogenomic technologiesSarah 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....
- Large clinically consequential imbalances detected at the breakpoints of apparently balanced and inherited chromosome rearrangementsSarah T South
Institute for Clinical and Experimental Pathology, University of Utah, Salt Lake City, Utah, USA
J Mol Diagn 12:725-9. 2010....
- Pathogenic significance of deletions distal to the currently described Wolf-Hirschhorn syndrome critical regions on 4p16.3Sarah T South
ARUP Laboratories, Salt Lake City, UT 84108, USA
Am J Med Genet C Semin Med Genet 148:270-4. 2008....
- Genomic medicine in prenatal diagnosisSarah T South
Department of Pediatrics, University of Utah, Salt Lake City, Utah, USA
Clin Obstet Gynecol 51:62-73. 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 phenotypeSarah 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....
- Comprehensive analysis of Wolf-Hirschhorn syndrome using array CGH indicates a high prevalence of translocationsSarah 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...
- Brachymesomelic dysplasia with Peters anomaly of the eye results from disruptions of the X chromosome near the SHOX and SOX3 genesSteven 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...
- Two unique patients with novel microdeletions in 4p16.3 that exclude the WHS critical regions: implications for critical region designationSarah 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...
- A new genomic mechanism leading to cri-du-chat syndromeSarah 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...
- Unknown partner for USP6 and unusual SS18 rearrangement detected by fluorescence in situ hybridization in a solid aneurysmal bone cystKatherine Geiersbach
ARUP Institute for Clinical and Experimental Pathology, ARUP Laboratories, Salt Lake City, UT, USA
Cancer Genet 204:195-202. 2011..In this case, the SS18 rearrangement by FISH resulted from a complex rearrangement of 18q11.2 with a deletion of the SS18 gene. The translocation partner for USP6 remains unknown in this case...
- Detection of a de novo interstitial 2q microdeletion by CGH microarray analysis in a patient with limb malformations, microcephaly and mental retardationAnnika 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...
- Mandibulofacial dysostosis in a patient with a de novo 2;17 translocation that disrupts the HOXD gene clusterDavid 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...
- Using VAAST to identify an X-linked disorder resulting in lethality in male infants due to N-terminal acetyltransferase deficiencyAlan 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...
- Prenatal detection of an interstitial deletion in 4p15 in a fetus with an increased nuchal skin fold measurementSarah T South
Department of Gynecology and Obstetrics, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA
Fetal Diagn Ther 20:58-63. 2005..We mapped the deletion with BAC probes, generating a list of possible candidate genes involved in the pathogenesis of increased nuchal skin folds...
- 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 9Simeon 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....
- 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
- 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...
- Reevaluating confined placental mosaicismGail 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....