Publications by authors named "Stuart Schwartz"

62Publications

Deletion rescue resulting in segmental homozygosity: A mechanism underlying discordant NIPT results.

Am J Med Genet A 2020 Aug 15. Epub 2020 Aug 15.

Cytogenetics Laboratory, Laboratory Corporation of America® Holdings, Research Triangle Park, North Carolina, USA.

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http://dx.doi.org/10.1002/ajmg.a.61801DOI Listing
August 2020

Multidisciplinary analysis of pediatric T-ALL: 9q34 gene fusions.

Cancer Genet 2019 02 12;231-232:1-13. Epub 2018 Dec 12.

Laboratory Corporation of America, 1904 TW Alexander Drive, Research Triangle Park, NC 27709, United States. Electronic address:

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http://dx.doi.org/10.1016/j.cancergen.2018.12.002DOI Listing
February 2019

Utilization of CMA in myeloid, lymphoid and plasma cell disorders.

Authors:
Schwartz Stuart

Cancer Genet 2018 12;228-229:181-183

Cytogenetics Laboratory, Laboratory Corporation of America® Holdings, Research Triangle Park, NC, 27709.

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http://dx.doi.org/10.1016/j.cancergen.2018.11.007DOI Listing
December 2018

Features of Feingold syndrome 1 dominate in subjects with 2p deletions including MYCN.

Am J Med Genet A 2018 09 8;176(9):1956-1963. Epub 2018 Aug 8.

Laboratory Corporation of America Holdings, Center for Molecular Biology and Pathology, Research Triangle Park, North Carolina.

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http://dx.doi.org/10.1002/ajmg.a.40355DOI Listing
September 2018

Automating Recession Curve Displacement Recharge Estimation.

Ground Water 2017 01 8;55(1):81-87. Epub 2016 Jul 8.

Center for Urban Environmental Research and Education, University of Maryland Baltimore County, 1000 Hilltop Circle, Baltimore, MD 21250.

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http://dx.doi.org/10.1111/gwat.12439DOI Listing
January 2017

Preparation of Amniocytes for Interphase Fluorescence In Situ Hybridization (FISH).

Authors:
Stuart Schwartz

Curr Protoc Hum Genet 2015 Apr 1;85:8.9.1-8.9.16. Epub 2015 Apr 1.

Cytogenetics Laboratory, Laboratory Corporation of America® Holdings, Research Triangle Park, North Carolina.

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http://dx.doi.org/10.1002/0471142905.hg0809s85DOI Listing
April 2015

Four-copy number intervals in SNP microarray analysis: unique patterns and positions.

Cytogenet Genome Res 2014 15;144(2):92-103. Epub 2014 Nov 15.

Department of Cytogenetics, Laboratory Corporation of America, Research Triangle Park, N.C., USA.

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http://dx.doi.org/10.1159/000368859DOI Listing
February 2015

Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder.

Eur J Hum Genet 2014 Jan 1;22(1):57-63. Epub 2013 May 1.

1] Department of Human and Molecular Genetics, Virginia Commonwealth University School of Medicine, Richmond, VA, USA [2] Department of Pediatrics, Virginia Commonwealth University School of Medicine, Richmond, VA, USA [3] Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

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http://dx.doi.org/10.1038/ejhg.2013.67DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3865402PMC
January 2014

Clinical comparison of overlapping deletions of 19p13.3.

Am J Med Genet A 2013 May;161A(5):1110-6

Laboratory Corporation of America/Dynacare, Department of Cytogenetics, Seattle, WA 98122, USA.

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http://dx.doi.org/10.1002/ajmg.a.35923DOI Listing
May 2013

Three cases of isolated terminal deletion of chromosome 8p without heart defects presenting with a mild phenotype.

Am J Med Genet A 2013 Apr 12;161A(4):822-8. Epub 2013 Mar 12.

Department of Cytogenetics, Laboratory Corporation of America, Center for Molecular Biology and Pathology, Research Triangle Park, NC 27709, USA.

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http://dx.doi.org/10.1002/ajmg.a.35699DOI Listing
April 2013

Double-hit mantle cell lymphoma with MYC gene rearrangement or amplification: a report of four cases and review of the literature.

Int J Clin Exp Pathol 2013 15;6(2):155-67. Epub 2013 Jan 15.

Department of Hematopathology, Moffitt Cancer Center and Research Institute Tampa, FL, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3544229PMC
July 2013

Fatal Henoch-Schönlein purpura in an adult with Dieulafoy lesions.

J Clin Rheumatol 2012 Aug;18(5):253-6

Rheumatology Division, Roger Williams Medical Center, Boston University, Boston, MA, USA.

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http://dx.doi.org/10.1097/RHU.0b013e318262e3f9DOI Listing
August 2012

Prader-Willi syndrome.

Genet Med 2012 Jan 26;14(1):10-26. Epub 2011 Sep 26.

Division of Medical Genetics, Department of Pediatrics, University of California, San Francisco, San Francisco, California, USA.

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http://dx.doi.org/10.1038/gim.0b013e31822bead0DOI Listing
January 2012

Monoclonal antibodies in rheumatic diseases.

Med Health R I 2011 Nov;94(11):320-4

Rhode Island Hospital, USA.

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November 2011

Clinical utility of single nucleotide polymorphism arrays.

Authors:
Stuart Schwartz

Clin Lab Med 2011 Dec;31(4):581-94, viii

Cytogenetics Laboratory, Laboratory Corporation of America, 1904 Alexander Drive, Research Triangle Park, NC 27709, USA.

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http://dx.doi.org/10.1016/j.cll.2011.09.002DOI Listing
December 2011

UPD detection using homozygosity profiling with a SNP genotyping microarray.

Am J Med Genet A 2011 Apr 15;155A(4):757-68. Epub 2011 Mar 15.

Laboratory Corporation of Cytogenetics Triangle Park, North Carolina, USA.

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http://dx.doi.org/10.1002/ajmg.a.33939DOI Listing
April 2011

Diagnosis and management of acute gout.

Med Health R I 2009 Nov;92(11):356-8

Roger Williams Medical Center, USA.

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November 2009

Inverted duplications on acentric markers: mechanism of formation.

Hum Mol Genet 2009 Jun 31;18(12):2241-56. Epub 2009 Mar 31.

Department of Human Genetics, The University of Chicago, 5841 S. Maryland Avenue, Room L-155, MC0077, Chicago, IL 60637, USA.

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http://dx.doi.org/10.1093/hmg/ddp160DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2685760PMC
June 2009

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes.

N Engl J Med 2008 Oct 10;359(16):1685-99. Epub 2008 Sep 10.

University of Washington School of Medicine, Seattle 98195, USA.

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http://dx.doi.org/10.1056/NEJMoa0805384DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2703742PMC
October 2008

Optimal design of oligonucleotide microarrays for measurement of DNA copy-number.

Hum Mol Genet 2007 Nov 28;16(22):2770-9. Epub 2007 Aug 28.

Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.

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http://dx.doi.org/10.1093/hmg/ddm234DOI Listing
November 2007

Mosaicism del(22)(q11.2q11.2)/dup(22)(q11.2q11.2) in a patient with features of 22q11.2 deletion syndrome.

Am J Med Genet A 2007 May;143A(10):1082-6

Department of Human Genetics, The University of Chicago, Chicago, Illinois 60637, USA.

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http://dx.doi.org/10.1002/ajmg.a.31697DOI Listing
May 2007

Synaptic defects at meiosis I and non-obstructive azoospermia.

Hum Reprod 2006 Dec 22;21(12):3171-7. Epub 2006 Jul 22.

School of Molecular Biosciences, Washington State University, Pullman, WA, USA.

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http://dx.doi.org/10.1093/humrep/del281DOI Listing
December 2006

Breakpoint mapping in a case of mosaicism with partial monosomy 9p23 --> pter and partial trisomy 1q41 --> qter suggests neo-telomere formation in stabilizing the deleted chromosome.

Am J Med Genet A 2006 Jan;140(1):82-7

Genetics Division, Department of Morphology, Universidade Federal de São Paulo, Rua Botucatu 740, 04023-900 São Paulo, SP, Brazil.

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http://dx.doi.org/10.1002/ajmg.a.31045DOI Listing
January 2006

Meiotic synapsis proceeds from a limited number of subtelomeric sites in the human male.

Am J Hum Genet 2005 Oct 16;77(4):556-66. Epub 2005 Aug 16.

Center for Human Genetics, Case Western Reserve University School of Medicine and University Hospitals of Cleveland, Cleveland, OH, USA.

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http://dx.doi.org/10.1086/468188DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1275605PMC
October 2005

Punctuated duplication seeding events during the evolution of human chromosome 2p11.

Genome Res 2005 Jul 17;15(7):914-27. Epub 2005 Jun 17.

Department of Genetics and Center for Human Genetics, Case Western Reserve University School of Medicine and University Hospitals of Cleveland, Cleveland, Ohio 44106, USA.

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http://dx.doi.org/10.1101/gr.3916405DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1172035PMC
July 2005

Evaluating current policy for detecting mosaicism in amniotic fluid cultures: implications for current cell counting practices.

Stat Med 2005 Feb;24(4):615-22

Centers for Disease Control and Prevention, Clinical Chemistry Branch, Atlanta, GA 30341-3724, USA.

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http://dx.doi.org/10.1002/sim.2040DOI Listing
February 2005

Maternal uniparental disomy chromosome 14: case report and literature review.

Pediatr Neurol 2005 Feb;32(2):116-20

Department of Genetics, Center for Human Genetics, University Hospitals of Cleveland and Case Western Reserve University, 10524 Euclid Avenue, Cleveland, OH 44106 USA.

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http://dx.doi.org/10.1016/j.pediatrneurol.2004.07.007DOI Listing
February 2005

The structure and evolution of centromeric transition regions within the human genome.

Nature 2004 Aug;430(7002):857-64

Department of Genetics, Center for Computational Genomics and the Center for Human Genetics, Case Western Reserve University School of Medicine and University Hospitals of Cleveland, Cleveland, Ohio 44106, USA.

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http://dx.doi.org/10.1038/nature02806DOI Listing
August 2004

Terminal 22q deletion syndrome: a newly recognized cause of speech and language disability in the autism spectrum.

Pediatrics 2004 Aug;114(2):451-7

Department of Pediatrics, Division of Medical Genetics, H-315, Stanford University School of Medicine, Stanford, California 94305-5208, USA.

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http://dx.doi.org/10.1542/peds.114.2.451DOI Listing
August 2004

Identification and molecular characterization of a de novo supernumerary ring chromosome 18 in a patient with Klippel-Trenaunay syndrome.

Ann Hum Genet 2004 Jul;68(Pt 4):353-61

Center for Molecular Genetics, Department of Molecular Cardiology, Lerner Research Institute, The Cleveland Clinic Foundation, Ohio 44195, USA.

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http://dx.doi.org/10.1046/j.1529-8817.2004.00095.xDOI Listing
July 2004

Paternal uniparental isodisomy for chromosome 14 in a patient with a normal 46,XY karyotype.

Am J Med Genet A 2004 Jun;127A(2):167-71

University of Pittsburgh, Pittsburgh, Pennsylvania.

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http://dx.doi.org/10.1002/ajmg.a.20618DOI Listing
June 2004

Detection of deletions in de novo "balanced" chromosome rearrangements: further evidence for their role in phenotypic abnormalities.

Genet Med 2004 Mar-Apr;6(2):81-9

Center for Human Genetics and Department of Human Genetics, Case Western Reserve University School of Medicine and University Hospitals of Cleveland, Cleveland, Ohio 44106-9959, USA.

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http://dx.doi.org/10.1097/01.gim.0000117850.04443.c9DOI Listing
October 2004

Delineation of complex chromosomal rearrangements: evidence for increased complexity.

Hum Genet 2004 Apr 7;114(5):448-57. Epub 2004 Feb 7.

Department of Genetics and Center for Human Genetics, Case Western Reserve University School of Medicine and University Hospitals of Cleveland, Cleveland, Ohio 44106-9959, USA.

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http://dx.doi.org/10.1007/s00439-003-1079-1DOI Listing
April 2004

Meiosis I arrest and azoospermia in an infertile male explained by failure of formation of a component of the synaptonemal complex.

Fertil Steril 2004 Jan;81(1):205-9

Department of Genetics and The Center for Human Genetics, Case Western Reserve University and University Hospitals of Cleveland, Cleveland, Ohio 44106, USA.

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http://dx.doi.org/10.1016/j.fertnstert.2003.05.021DOI Listing
January 2004

Human artificial chromosomes with alpha satellite-based de novo centromeres show increased frequency of nondisjunction and anaphase lag.

Mol Cell Biol 2003 Nov;23(21):7689-97

Department of Genetics, Center for Human Genetics, Case Western Reserve University School of Medicine and University Hospitals of Cleveland, Cleveland, Ohio 44106, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC207596PMC
http://dx.doi.org/10.1128/mcb.23.21.7689-7697.2003DOI Listing
November 2003

Fishing for a better language.

Authors:
Stuart Schwartz

Genet Med 2003 Sep-Oct;5(5):345-6

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http://dx.doi.org/10.1097/01.gim.0000087987.43775.09DOI Listing
June 2004

Analysis of microsatellite instability and X-inactivation in ovarian borderline tumors lacking numerical abnormalities by comparative genomic hybridization.

Cancer Genet Cytogenet 2003 Sep;145(2):133-8

Department of Genetics and Center for Human Genetics, Case Western Reserve University and University Hospitals of Cleveland, Cleveland, OH 44106, USA.

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http://dx.doi.org/10.1016/s0165-4608(03)00093-1DOI Listing
September 2003

Microdeletion syndromes. Characteristics and diagnosis.

Methods Mol Biol 2002 ;204:275-90

Department of Genetics, Center for Human Genetics, Case Western Reserve University, University Hospitals of Cleveland, Cleveland, OH, USA.

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http://dx.doi.org/10.1385/1-59259-300-3:275DOI Listing
March 2003

Molecular approaches for delineating marker chromosomes.

Methods Mol Biol 2002 ;204:211-8

Department of Genetics, Center for Human Genetics Laboratory, Case Western Reserve University, University Hospitals of Cleveland, Cleveland, Ohio, USA.

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http://dx.doi.org/10.1385/1-59259-300-3:211DOI Listing
March 2003

Prenatal detection of structural abnormalities of chromosome 18: associations with interphase fluorescence in situ hybridization (FISH) and maternal serum screening.

Prenat Diagn 2002 Aug;22(8):645-8

Department of Genetics and Center for Human Genetics Laboratory, Case Western Reserve University and University Hospitals of Cleveland, Cleveland, OH 44106, USA.

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http://dx.doi.org/10.1002/pd.354DOI Listing
August 2002

Recent segmental duplications in the human genome.

Science 2002 Aug;297(5583):1003-7

Department of Genetics, Center for Computational Genomics, and Center for Human Genetics, Case Western Reserve University School of Medicine and University Hospitals of Cleveland, Cleveland, OH 44106, USA.

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http://dx.doi.org/10.1126/science.1072047DOI Listing
August 2002

Covariation of synaptonemal complex length and mammalian meiotic exchange rates.

Science 2002 Jun 6;296(5576):2222-5. Epub 2002 Jun 6.

Department of Genetics, Case Western Reserve University, Cleveland, OH, USA.

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http://dx.doi.org/10.1126/science.1071220DOI Listing
June 2002

Chemotherapy-induced O(6)-benzylguanine-resistant alkyltransferase mutations in mismatch-deficient colon cancer.

Cancer Res 2002 Jun;62(11):3070-6

Division of Hematology and Oncology, Department of Medicine, Case Western Reserve University, 10900 Euclid Avenue, Cleveland, OH 44106-4937, USA.

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June 2002

Rapid interphase analysis for prenatal diagnosis of translocation carriers using subtelomeric probes.

Prenat Diagn 2002 Mar;22(3):193-7

Department of Pediatrics, Section on Medical Genetics, Wake Forest University School of Medicine, Winston-Salem, NC 27157, USA.

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http://dx.doi.org/10.1002/pd.282DOI Listing
March 2002

Chromosomal autonomy of hMLH1 methylation in colon cancer.

Oncogene 2002 Feb;21(9):1443-9

Department of Microbiology and Molecular Biology, Case Western Reserve University, Cleveland, Ohio, OH 44106, USA.

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http://dx.doi.org/10.1038/sj.onc.1205247DOI Listing
February 2002

Clinical application of PRINS.

Am J Med Genet 2002 Jan;107(2):95-6

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http://dx.doi.org/10.1002/ajmg.10108DOI Listing
January 2002

Human-specific duplication and mosaic transcripts: the recent paralogous structure of chromosome 22.

Am J Hum Genet 2002 Jan 30;70(1):83-100. Epub 2001 Nov 30.

Department of Genetics and Center for Human Genetics, Case Western Reserve University School of Medicine and University Hospitals of Cleveland, OH, USA.

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http://linkinghub.elsevier.com/retrieve/pii/S000292970761285
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http://dx.doi.org/10.1086/338458DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC419985PMC
January 2002

Loss of the SKI proto-oncogene in individuals affected with 1p36 deletion syndrome is predicted by strain-dependent defects in Ski-/- mice.

Nat Genet 2002 Jan 3;30(1):106-9. Epub 2001 Dec 3.

Department of Cancer Biology, Lerner Research Institute, Cleveland Clinic Foundation, Cleveland, Ohio 44195, USA.

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http://dx.doi.org/10.1038/ng770DOI Listing
January 2002