Sarah T South
Affiliation: University of Utah
- 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...
- 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...
- 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....
- 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...
- 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...
- 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....
- Molecular inversion probe array for the genetic evaluation of stillbirth using formalin-fixed, paraffin-embedded tissueLeslie 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. ..
- 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 disabilityAlison 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...
- 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....
- 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...
- ACMG Standards and Guidelines for constitutional cytogenomic microarray analysis, including postnatal and prenatal applications: revision 2013Sarah 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...
- 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....
- 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...
- 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....
- Deletions involving genes WHSC1 and LETM1 may be necessary, but are not sufficient to cause Wolf-Hirschhorn SyndromeErica 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....
- 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..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...
- 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
- 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....
- 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....
- Transcript level alterations reflect gene dosage effects across multiple tissues in a mouse model of down syndromePascal 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...
- Peroxisomal membrane protein import does not require Pex17pCourtney 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...