Sarah T South

Sarah T South

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Sarah T South

Sarah T South

Publications by authors named "Sarah T South"

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Identification of two 14q32 deletions involving DICER1 associated with the development of DICER1-related tumors.

Eur J Med Genet 2019 Jan 24;62(1):9-14. Epub 2018 Apr 24.

Department of Pathology, University of Utah, Salt Lake City, UT, United States; Cytogenetics and Genomic Microarray, ARUP Laboratories, Salt Lake City, UT, United States.

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https://linkinghub.elsevier.com/retrieve/pii/S17697212173084
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http://dx.doi.org/10.1016/j.ejmg.2018.04.011DOI Listing
January 2019

Clinical significance of copy number variants involving KANK1 in patients with neurodevelopmental disorders.

Eur J Med Genet 2019 Jan 3;62(1):15-20. Epub 2018 May 3.

Lineagen, Inc., Salt Lake City, UT, United States. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2018.04.012DOI Listing
January 2019

Braddock-Carey syndrome: A 21q22 contiguous gene syndrome encompassing RUNX1.

Am J Med Genet A 2016 10 23;170(10):2580-6. Epub 2016 Aug 23.

Department of Pediatrics, University of Utah, Salt Lake City, Utah.

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http://dx.doi.org/10.1002/ajmg.a.37870DOI Listing
October 2016

Two Unrelated Burkitt Lymphomas Seven Years Apart in a Patient With X-Linked Lymphoproliferative Disease Type 1 (XLP1).

Am J Clin Pathol 2016 Aug 10;146(2):248-53. Epub 2016 Jun 10.

From the Department of Pathology, University of Utah, Salt Lake City ARUP Laboratories, Salt Lake City, UT Huntsman Cancer Institute, Salt Lake City, UT.

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http://dx.doi.org/10.1093/ajcp/aqw036DOI Listing
August 2016

Mosaic deletion of 20pter due to rescue by somatic recombination.

Am J Med Genet A 2016 Jan 5;170A(1):243-8. Epub 2015 Oct 5.

Department of Pediatrics and Pathology, University of Utah, Salt Lake City, Utah.

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http://dx.doi.org/10.1002/ajmg.a.37407DOI Listing
January 2016

Turner Syndrome in Girls Presenting with Coarctation of the Aorta.

J Pediatr 2015 Nov 29;167(5):1062-6. Epub 2015 Aug 29.

Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, UT.

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http://dx.doi.org/10.1016/j.jpeds.2015.08.002DOI Listing
November 2015

Wolf-Hirschhorn syndrome: A review and update.

Am J Med Genet C Semin Med Genet 2015 Sep 4;169(3):216-23. Epub 2015 Aug 4.

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http://dx.doi.org/10.1002/ajmg.c.31449DOI Listing
September 2015

Observations of the genomic landscape beyond 1p19q deletions and EGFR amplification in glioma.

Mol Cytogenet 2015 7;8:60. Epub 2015 Aug 7.

ARUP Institute for Clinical and Experimental Pathology® ARUP Laboratories, 500 Chipeta Way, Salt Lake City, UT 84108 USA ; Departments of Pathology and Pediatrics, University of Utah, Salt Lake City, UT USA.

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http://dx.doi.org/10.1186/s13039-015-0156-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4528708PMC
August 2015

Streamlining the OncoScan® Array Procedure for Use in a Clinical Laboratory.

J Assoc Genet Technol 2015 ;41(2):61-5

ARUP Institute for Clinical and Experimental Pathology®, Salt Lake City, UT.

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July 2015

Two cases of Scimitar syndrome associated with multiple congenital skeletal anomalies and lacking abnormalities by genomic microarray analysis.

Pediatr Dev Pathol 2014 Sep-Oct;17(5):360-5. Epub 2014 Jun 19.

1  Department of Pathology, University of Utah, 15 North Medical Drive East, Suite #1100, Salt Lake City, UT 84112, USA.

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http://dx.doi.org/10.2350/14-04-1474-CR.1DOI Listing
February 2015

IGF2BP1: a novel IGH translocation partner in B acute lymphoblastic leukemia.

Cancer Genet 2014 Jul-Aug;207(7-8):332-4. Epub 2014 Jul 23.

Department of Pathology, University of Utah, Salt Lake City, UT, USA; ARUP Institute for Clinical and Experimental Pathology, ARUP Laboratories, Salt Lake City, UT, USA. Electronic address:

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http://dx.doi.org/10.1016/j.cancergen.2014.07.002DOI Listing
January 2015

Clinical utility of chromosomal microarray analysis of DNA from buccal cells: detection of mosaicism in three patients.

J Genet Couns 2014 Dec 15;23(6):922-7. Epub 2014 Aug 15.

Genetic Counselor, Lineagen, Inc, 2677 E Parleys, Way Salt Lake City, UT, 84109, USA,

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http://link.springer.com/10.1007/s10897-014-9751-2
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http://dx.doi.org/10.1007/s10897-014-9751-2DOI Listing
December 2014

Correspondence regarding SNX8 haploinsufficiency and its potential for cardiac anomalies including tetralogy of Fallot.

Am J Med Genet A 2014 Aug 14;164A(8):2136-7. Epub 2014 Apr 14.

Lineagen-Genetic Counseling, Salt Lake City, Utah.

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http://dx.doi.org/10.1002/ajmg.a.36572DOI Listing
August 2014

Deletions involving genes WHSC1 and LETM1 may be necessary, but are not sufficient to cause Wolf-Hirschhorn Syndrome.

Eur J Hum Genet 2014 Apr 21;22(4):464-70. Epub 2013 Aug 21.

1] Cytogenetics Department, ARUP Laboratories, Salt Lake City, UT, USA [2] Department of Pathology, University of Utah, Salt Lake City, UT, USA [3] Department of Pediatrics, University of Utah, Salt Lake City, UT, USA.

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http://dx.doi.org/10.1038/ejhg.2013.192DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3953918PMC
April 2014

SNX8: A candidate gene for 7p22 cardiac malformations including tetralogy of fallot.

Am J Med Genet A 2014 Feb 5;164A(2):554-6. Epub 2013 Dec 5.

Lineagen, Inc., 423 Wakara Way, Ste 200, Salt Lake City, UT 84108, United States.

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http://dx.doi.org/10.1002/ajmg.a.36242DOI Listing
February 2014

ACMG Standards and Guidelines for constitutional cytogenomic microarray analysis, including postnatal and prenatal applications: revision 2013.

Genet Med 2013 Nov 26;15(11):901-9. Epub 2013 Sep 26.

1] ARUP Laboratories, Salt Lake City, Utah, USA [2] Department of Pathology, University of Utah, Salt Lake City, Utah, USA.

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http://www.nature.com/articles/gim2013129
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http://dx.doi.org/10.1038/gim.2013.129DOI Listing
November 2013

Molecular inversion probe array for the genetic evaluation of stillbirth using formalin-fixed, paraffin-embedded tissue.

J Mol Diagn 2013 Jul 10;15(4):466-72. Epub 2013 May 10.

Institute for Clinical and Experimental Pathology, ARUP Laboratories, Salt Lake City, UT 84108-1221, USA.

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http://dx.doi.org/10.1016/j.jmoldx.2013.03.006DOI Listing
July 2013

Familial KANK1 deletion that does not follow expected imprinting pattern.

Eur J Med Genet 2013 May 27;56(5):256-9. Epub 2013 Feb 27.

Lineagen, Inc., 423 Wakara Way, Ste 200, Salt Lake City, UT 84108, United States.

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https://linkinghub.elsevier.com/retrieve/pii/S17697212130005
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http://dx.doi.org/10.1016/j.ejmg.2013.02.006DOI Listing
May 2013

Case report: cytogenetic and molecular analysis of proximal interstitial deletion of 4p, review of the literature and comparison with wolf-hirschhorn syndrome.

J Assoc Genet Technol 2010 ;36(1):5-10

Department of Pathology, West Virginia University, Morgantown, WV.

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October 2012

Differentiation of malignant melanoma from benign nevus using a novel genomic microarray with low specimen requirements.

Arch Pathol Lab Med 2012 Aug;136(8):947-55

Department of Dermatopathology, Dominion Pathology Laboratories, Norfolk, VA 23510, USA.

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http://dx.doi.org/10.5858/arpa.2011-0330-OADOI Listing
August 2012

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.

Am J Med Genet A 2012 Jan 21;158A(1):159-65. Epub 2011 Nov 21.

ARUP Institute for Clinical and Experimental Pathology, ARUP Laboratories, Salt Lake City, Utah, USA.

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http://dx.doi.org/10.1002/ajmg.a.34349DOI Listing
January 2012

Chromosomal structural rearrangements: detection and elucidation of mechanisms using cytogenomic technologies.

Authors:
Sarah T South

Clin Lab Med 2011 Dec 20;31(4):513-24, vii. Epub 2011 Oct 20.

Cytogenetics, Genomic Microarray, Genetic Processing at ARUP Laboratories, 500 Chipeta Way, Salt Lake City, UT 84108, USA.

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http://dx.doi.org/10.1016/j.cll.2011.08.010DOI Listing
December 2011

American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants.

Genet Med 2011 Jul;13(7):680-5

Fullerton Genetics Center, Mission Health System, 267 McDowell St., Asheville, NC 28803, USA.

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http://dx.doi.org/10.1097/GIM.0b013e3182217a3aDOI Listing
July 2011

Large clinically consequential imbalances detected at the breakpoints of apparently balanced and inherited chromosome rearrangements.

J Mol Diagn 2010 Sep 1;12(5):725-9. Epub 2010 Jul 1.

Institute for Clinical and Experimental Pathology, University of Utah, Salt Lake City, Utah, USA.

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http://dx.doi.org/10.2353/jmoldx.2010.090234DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2928439PMC
September 2010

CD20dim-positive T-cell large granular lymphocytic leukemia in a patient with concurrent hairy cell leukemia and plasma cell myeloma.

Int J Clin Exp Pathol 2010 Sep 12;3(8):798-807. Epub 2010 Sep 12.

Division of Clinical Pathology, Department of Pathology, University of California San Diego Health Sciences, 3855 Health Science Drive, La Jolla, California 92093, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2993231PMC
September 2010

Spectrum of epilepsy and electroencephalogram patterns in Wolf-Hirschhorn syndrome: experience with 87 patients.

Dev Med Child Neurol 2009 May;51(5):373-80

Stella Maris Clinical Research Institute for Child and Adolescent Neurology and Psychiatry, Calambrone, Pisa, Italy.

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http://doi.wiley.com/10.1111/j.1469-8749.2008.03233.x
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http://dx.doi.org/10.1111/j.1469-8749.2008.03233.xDOI Listing
May 2009

Detecting genomic imbalances in prenatal diagnosis: main hurdles and recent advances.

Expert Opin Med Diagn 2009 May;3(3):227-35

University of Utah, Departments of Pediatrics and Pathology, Salt Lake City, UT 84132-2117, USA.

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http://dx.doi.org/10.1517/17530050902767002DOI Listing
May 2009

Pathogenic significance of deletions distal to the currently described Wolf-Hirschhorn syndrome critical regions on 4p16.3.

Am J Med Genet C Semin Med Genet 2008 Nov;148C(4):270-4

ARUP Laboratories, Salt Lake City, UT 84108, USA.

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http://dx.doi.org/10.1002/ajmg.c.30188DOI Listing
November 2008

Genomic medicine in prenatal diagnosis.

Clin Obstet Gynecol 2008 Mar;51(1):62-73

Department of Pediatrics, University of Utah, Salt Lake City, Utah, USA.

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http://dx.doi.org/10.1097/GRF.0b013e3181616509DOI Listing
March 2008

Comprehensive analysis of Wolf-Hirschhorn syndrome using array CGH indicates a high prevalence of translocations.

Eur J Hum Genet 2008 Jan 29;16(1):45-52. Epub 2007 Aug 29.

Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, UT, USA.

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http://www.nature.com/articles/5201915
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http://dx.doi.org/10.1038/sj.ejhg.5201915DOI Listing
January 2008

Brachymesomelic dysplasia with Peters anomaly of the eye results from disruptions of the X chromosome near the SHOX and SOX3 genes.

Am J Med Genet A 2007 Dec;143A(23):2785-95

Department of Pediatrics, Division of Medical Genetics, University of Utah School of Medicine, Salt Lake City, Utah 84132.

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http://dx.doi.org/10.1002/ajmg.a.32036DOI Listing
December 2007

Two unique patients with novel microdeletions in 4p16.3 that exclude the WHS critical regions: implications for critical region designation.

Am J Med Genet A 2007 Sep;143A(18):2137-42

Department of Pediatrics, Division of Medical Genetics, University of Utah, Salt Lake City, Utah 84132-2117, USA.

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http://doi.wiley.com/10.1002/ajmg.a.31900
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http://dx.doi.org/10.1002/ajmg.a.31900DOI Listing
September 2007

Mandibulofacial dysostosis in a patient with a de novo 2;17 translocation that disrupts the HOXD gene cluster.

Am J Med Genet A 2007 May;143A(10):1053-9

Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, Utah 84132, USA.

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http://doi.wiley.com/10.1002/ajmg.a.31715
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http://dx.doi.org/10.1002/ajmg.a.31715DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3243067PMC
May 2007

A new genomic mechanism leading to cri-du-chat syndrome.

Am J Med Genet A 2006 Dec;140(24):2714-20

Department of Pediatrics, Division of Medical Genetics, University of Utah, Salt Lake City, Utah, USA.

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http://dx.doi.org/10.1002/ajmg.a.31496DOI Listing
December 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 9.

Genomics 2005 May;85(5):622-9

McKusick-Nathans Institute of Genetic Medicine, The Johns Hopkins University School of Medicine, 733 N. Broadway, BRB 469, Baltimore, MD 21205, USA.

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http://dx.doi.org/10.1016/j.ygeno.2005.01.002DOI Listing
May 2005

Prenatal detection of an interstitial deletion in 4p15 in a fetus with an increased nuchal skin fold measurement.

Fetal Diagn Ther 2005 Jan-Feb;20(1):58-63

Department of Gynecology and Obstetrics, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.

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https://www.karger.com/Article/FullText/81371
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http://dx.doi.org/10.1159/000081371DOI Listing
April 2005

Reevaluating confined placental mosaicism.

Am J Med Genet A 2004 Dec;131(3):232-9

Department of Gynecology and Obstetrics, Johns Hopkins University School of Medicine, Baltimore, Maryland 21287-2501, USA.

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http://dx.doi.org/10.1002/ajmg.a.30363DOI Listing
December 2004

Peroxisomal membrane protein import does not require Pex17p.

J Biol Chem 2002 May 21;277(19):16498-504. Epub 2002 Feb 21.

Department of Biological Chemistry, The Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA.

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http://dx.doi.org/10.1074/jbc.M111728200DOI Listing
May 2002