Publications by authors named "Shashikant Kulkarni"

63Publications

Utility of copy number variants in the classification of intracranial ependymoma.

Cancer Genet 2020 01 18;240:66-72. Epub 2019 Nov 18.

Department of Pathology and Immunology, Washington University School of Medicine, 660 S. Euclid Avenue, St Louis, MO 63110, USA. Electronic address:

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http://dx.doi.org/10.1016/j.cancergen.2019.11.003DOI Listing
January 2020

A case for expert curation: an overview of cancer curation in the Clinical Genome Resource (ClinGen).

Cold Spring Harb Mol Case Stud 2019 10 23;5(5). Epub 2019 Oct 23.

Baylor College of Medicine, Houston, Texas 77030, USA.

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http://dx.doi.org/10.1101/mcs.a004739DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6824250PMC
October 2019

Authors' Reply.

J Mol Diagn 2018 01;20(1):125-126

Interpretation of Sequence Variants in Somatic Conditions Working Group of the Clinical Practice Committee, Association for Molecular Pathology, Bethesda, Maryland; University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania.

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http://dx.doi.org/10.1016/j.jmoldx.2017.11.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5818630PMC
January 2018

Comprehensive discovery of noncoding RNAs in acute myeloid leukemia cell transcriptomes.

Exp Hematol 2017 11 28;55:19-33. Epub 2017 Jul 28.

The McDonnell Genome Institute, Washington University, St. Louis, MO; Department of Medicine, Washington University, St. Louis, MO; Siteman Cancer Center, Washington University, St. Louis, MO; Department of Biomedical Engineering, Washington University, St. Louis, MO. Electronic address:

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http://dx.doi.org/10.1016/j.exphem.2017.07.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5772960PMC
November 2017

Optimizing cancer genome sequencing and analysis.

Cell Syst 2015 Sep;1(3):210-223

The McDonnell Genome Institute, Washington University, St. Louis, MO, USA, 63108 ; Department of Genetics, Washington University, St. Louis, MO, USA, 63108 ; Siteman Cancer Center, Washington University, St. Louis, MO, USA, 63108 ; Department of Medicine, Washington University, St. Louis, MO, USA, 63108.

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http://dx.doi.org/10.1016/j.cels.2015.08.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4669575PMC
September 2015

Multigenerational autosomal dominant inheritance of 5p chromosomal deletions.

Am J Med Genet A 2016 Mar 24;170(3):583-93. Epub 2015 Nov 24.

Department of Pathology and Immunology, Washington University School of Medicine, Saint Louis, Missouri.

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http://dx.doi.org/10.1002/ajmg.a.37445DOI Listing
March 2016

Genetic alterations in renal cell carcinoma with rhabdoid differentiation.

Hum Pathol 2015 Jan 21;46(1):9-16. Epub 2014 Sep 21.

Department of Pathology, Yale School of Medicine, New Haven, CT, 06520-8023, USA. Electronic address:

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http://dx.doi.org/10.1016/j.humpath.2014.09.001DOI Listing
January 2015

Next generation sequencing in clinical diagnostics: experiences of early adopters.

Clin Chem 2015 Jan 24;61(1):41-9. Epub 2014 Nov 24.

Department of Pathology and Laboratory Medicine. Women & Infants Hospital, Alpert Medical School at Brown University, Providence, RI.

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http://dx.doi.org/10.1373/clinchem.2014.222687DOI Listing
January 2015

Scoliosis and vertebral anomalies: additional abnormal phenotypes associated with chromosome 16p11.2 rearrangement.

Am J Med Genet A 2014 May 23;164A(5):1118-26. Epub 2014 Jan 23.

Department of Pathology and Immunology, Washington University School of Medicine, St. Louis, Missouri.

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http://dx.doi.org/10.1002/ajmg.a.36401DOI Listing
May 2014

Introduction.

Cancer Genet 2013 Dec 3;206(12):407-8. Epub 2013 Dec 3.

Department of Pathology and Immunology, Washington University School of Medicine, St. Louis, MO. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S22107762130016
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http://dx.doi.org/10.1016/j.cancergen.2013.11.006DOI Listing
December 2013

Germinal center B-cells resist transformation by Kras independently of tumor suppressor Arf.

PLoS One 2013 25;8(6):e67941. Epub 2013 Jun 25.

Department of Internal Medicine, Washington University School of Medicine, Saint Louis, Missouri, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0067941PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3692489PMC
February 2014

Genomic and epigenomic landscapes of adult de novo acute myeloid leukemia.

N Engl J Med 2013 05 1;368(22):2059-74. Epub 2013 May 1.

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http://dx.doi.org/10.1056/NEJMoa1301689DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3767041PMC
May 2013

Haploinsufficiency of ZNF238 is associated with corpus callosum abnormalities in 1q44 deletions.

Am J Med Genet A 2013 Apr 12;161A(4):711-6. Epub 2013 Mar 12.

Neuromuscular Division, Department of Neurology, Washington University School of Medicine, St. Louis, MO 63110, USA.

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http://dx.doi.org/10.1002/ajmg.a.35779DOI Listing
April 2013

NR2F1 haploinsufficiency is associated with optic atrophy, dysmorphism and global developmental delay.

Am J Med Genet A 2013 Feb 8;161A(2):377-81. Epub 2013 Jan 8.

Department of Pathology and Immunology, Washington University School of Medicine, St Louis, Missouri 63110, USA.

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http://dx.doi.org/10.1002/ajmg.a.35650DOI Listing
February 2013

Duplication of 20p12.3 associated with familial Wolff-Parkinson-White syndrome.

Am J Med Genet A 2013 Jan 13;161A(1):137-44. Epub 2012 Dec 13.

Edward Mallinckrodt Department of Pediatrics, St. Louis Children's Hospital, St. Louis, MO, USA.

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http://dx.doi.org/10.1002/ajmg.a.35701DOI Listing
January 2013

Detection of FLT3 internal tandem duplication in targeted, short-read-length, next-generation sequencing data.

J Mol Diagn 2013 Jan 14;15(1):81-93. Epub 2012 Nov 14.

Division of Laboratory and Genomic Medicine, Department of Pathology and Immunology, Washington University School of Medicine, St. Louis, Missouri, USA.

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http://dx.doi.org/10.1016/j.jmoldx.2012.08.001DOI Listing
January 2013

Chromosome 2p15p16.1 microdeletion syndrome: 2.5 Mb deletion in a patient with renal anomalies, intractable seizures and a choledochal cyst.

Eur J Med Genet 2012 Aug-Sep;55(8-9):485-9. Epub 2012 Apr 22.

Department of Pathology and Immunology, Washington University School of Medicine, Campus Box 8118, 660 South Euclid Avenue, St. Louis, MO 63110, USA.

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http://dx.doi.org/10.1016/j.ejmg.2012.04.003DOI Listing
November 2012

Immunohistochemical analysis of monocytic leukemias: usefulness of CD14 and Kruppel-like factor 4, a novel monocyte marker.

Am J Clin Pathol 2011 May;135(5):720-30

Dept of Pathology and Immunology, Washington University School of Medicine, St Louis, MO 63110, USA.

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http://dx.doi.org/10.1309/AJCPZ46PMMAWJROTDOI Listing
May 2011

Aberrantly resolved RAG-mediated DNA breaks in Atm-deficient lymphocytes target chromosomal breakpoints in cis.

Proc Natl Acad Sci U S A 2009 Oct 9;106(43):18339-44. Epub 2009 Oct 9.

Department of Pathology and Immunology, Washington University School of Medicine, St. Louis, MO 63110, USA.

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http://dx.doi.org/10.1073/pnas.0902545106DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2775277PMC
October 2009

Acquired monosomy 7 myelodysplastic syndrome in a child with clinical features suggestive of dyskeratosis congenita and IMAGe association.

Pediatr Blood Cancer 2010 Jan;54(1):154-7

Department of Pediatrics, Washington University School of Medicine, St. Louis Children's Hospital, St. Louis, MO 63110, USA.

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http://dx.doi.org/10.1002/pbc.22283DOI Listing
January 2010

The spectrum of adult B-lymphoid leukemias with BCR-ABL: molecular diagnostic, cytogenetic, and clinical laboratory perspectives.

Am J Hematol 2008 Dec;83(12):901-7

Department of Pathology and Immunology, Washington University School of Medicine, St. Louis, Missouri 63110, USA.

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http://dx.doi.org/10.1002/ajh.21291DOI Listing
December 2008

Flap endonuclease 1 contributes to telomere stability.

Curr Biol 2008 Apr;18(7):496-500

Department of Cell Biology and Physiology, Washington University School of Medicine, Saint Louis, Missouri 63110, USA.

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http://linkinghub.elsevier.com/retrieve/pii/S096098220800258
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http://dx.doi.org/10.1016/j.cub.2008.02.071DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2367431PMC
April 2008

Disruption of chromodomain helicase DNA binding protein 2 (CHD2) causes scoliosis.

Am J Med Genet A 2008 May;146A(9):1117-27

Division of Women's and Perinatal Pathology and Clinical Cytogenetics Laboratory, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.

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http://dx.doi.org/10.1002/ajmg.a.32178DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2834558PMC
May 2008

The effect of TERC haploinsufficiency on the inheritance of telomere length.

Proc Natl Acad Sci U S A 2005 Nov 11;102(47):17119-24. Epub 2005 Nov 11.

Department of Pediatrics, University of Iowa Hospitals and Clinics, Iowa City, IA 52242, USA.

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http://dx.doi.org/10.1073/pnas.0505318102DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1287981PMC
November 2005

Mouse dyskerin mutations affect accumulation of telomerase RNA and small nucleolar RNA, telomerase activity, and ribosomal RNA processing.

Proc Natl Acad Sci U S A 2004 Jul 7;101(29):10756-61. Epub 2004 Jul 7.

Department of Internal Medicine, Division of Hematology, Washington University School of Medicine, St Louis, MO 63110, USA.

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http://dx.doi.org/10.1073/pnas.0402560101DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC490007PMC
July 2004

Association of immune abnormalities with telomere shortening in autosomal-dominant dyskeratosis congenita.

Blood 2005 Jan 6;105(2):682-8. Epub 2004 Jul 6.

Department of Pediatrics, University of Iowa Hospitals and Clinics, Iowa City, IA 52242, USA.

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http://dx.doi.org/10.1182/blood-2004-04-1673DOI Listing
January 2005

Effect of proinflammatory cytokines on PIGA- hematopoiesis.

Exp Hematol 2003 Sep;31(9):770-8

Department of Internal Medicine, Division of Hematology, Washington University School of Medicine, St. Louis, Mo. 63110, USA.

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http://dx.doi.org/10.1016/s0301-472x(03)00189-9DOI Listing
September 2003

The effect of GPI-anchor deficiency on apoptosis in mice carrying a Piga gene mutation in hematopoietic cells.

J Leukoc Biol 2002 Dec;72(6):1228-33

Department of Internal Medicine, Division of Hematology, Washington University School of Medicine, St. Louis, Missouri 63110, USA.

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December 2002