Sibel Kantarci

Sibel Kantarci

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Sibel Kantarci

Sibel Kantarci

Publications by authors named "Sibel Kantarci"

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21Publications

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Coupling clinical exome sequencing with functional characterization studies to diagnose a patient with familial Mediterranean fever and haploinsufficiency syndromes.

Clin Case Rep 2017 06 18;5(6):833-840. Epub 2017 Apr 18.

UCLA Department of Pathology and Laboratory Medicine David Geffen School of Medicine University of California, Los Angeles Los Angeles California.

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http://dx.doi.org/10.1002/ccr3.904DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5458005PMC
June 2017

Structural Chromosomal Rearrangements Require Nucleotide-Level Resolution: Lessons from Next-Generation Sequencing in Prenatal Diagnosis.

Am J Hum Genet 2016 Nov 13;99(5):1015-1033. Epub 2016 Oct 13.

Department of Obstetrics, Gynecology, and Reproductive Biology, Brigham and Women's Hospital, Boston, MA 02115, USA; Harvard Medical School, Boston, MA 02115, USA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Boston, MA 02142, USA; Department of Pathology, Brigham and Women's Hospital and Harvard Medical School, Boston, MA 02115, USA; Division of Evolution and Genomic Science, School of Biological Sciences, University of Manchester, Manchester Academic Health Science Center, Manchester 03101, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.08.022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5097935PMC
November 2016

An infant with MLH3 variants, FOXG1-duplication and multiple, benign cranial and spinal tumors: A clinical exome sequencing study.

Genes Chromosomes Cancer 2016 Feb 6;55(2):131-42. Epub 2015 Nov 6.

Pathology and Laboratory Medicine, University of California at Los Angeles, David Geffen School of Medicine, Los Angeles, CA, 90095.

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http://dx.doi.org/10.1002/gcc.22319DOI Listing
February 2016

De novo nonsense mutations in KAT6A, a lysine acetyl-transferase gene, cause a syndrome including microcephaly and global developmental delay.

Am J Hum Genet 2015 Mar 26;96(3):498-506. Epub 2015 Feb 26.

Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA; Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2015.01.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4375619PMC
March 2015

Clinical exome sequencing for genetic identification of rare Mendelian disorders.

JAMA 2014 Nov;312(18):1880-7

Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California, Los Angeles2Clinical Genomics Center, David Geffen School of Medicine, University of California, Los Angeles6Department of Human Genetics, David Ge.

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http://dx.doi.org/10.1001/jama.2014.14604DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4278636PMC
November 2014

Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia.

JAMA Neurol 2014 Oct;71(10):1237-46

Program in Neurogenetics, Department of Neurology, David Geffen School of Medicine, University of California at Los Angeles2Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California at Los Angeles3UCLA Clin.

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http://dx.doi.org/10.1001/jamaneurol.2014.1944DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4324730PMC
October 2014

De novo single exon deletion of AUTS2 in a patient with speech and language disorder: a review of disrupted AUTS2 and further evidence for its role in neurodevelopmental disorders.

Am J Med Genet A 2014 Apr 23;164A(4):958-65. Epub 2014 Jan 23.

Departments of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, California.

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http://doi.wiley.com/10.1002/ajmg.a.36393
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.36393DOI Listing
April 2014

An unusual case of Philadelphia chromosome-positive chronic myelogenous leukemia with trisomy 19 presenting with megakaryoblastosis and myelofibrosis.

Arch Pathol Lab Med 2013 Aug;137(8):1147-51

Department of Pathology, Beth Israel Deaconess Medical Center, Boston, Massachusetts 02215, USA.

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http://dx.doi.org/10.5858/arpa.2012-0151-CRDOI Listing
August 2013

Human endometrial cells express elevated levels of pluripotent factors and are more amenable to reprogramming into induced pluripotent stem cells.

Endocrinology 2011 Mar 5;152(3):1080-9. Epub 2011 Jan 5.

Vincent Center of Reproductive Biology/Their 931, Department of Obstetrics and Gynecology, Massachusetts General Hospital and Harvard Medical School, 55 Fruit Street, Boston, Massachusetts 02114, USA.

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http://dx.doi.org/10.1210/en.2010-1072DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3198966PMC
March 2011

A call to action: training pathology residents in genomics and personalized medicine.

Am J Clin Pathol 2010 Jun;133(6):832-4

Department of Pathology, Beth Israel Deaconess Medical Center, 330 Brookline Ave., Boston, MA 02215, USA.

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https://academic.oup.com/ajcp/article-lookup/doi/10.1309/AJC
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http://dx.doi.org/10.1309/AJCPN6Q1QKCLYKXMDOI Listing
June 2010

Congenital diaphragmatic hernia (CDH) etiology as revealed by pathway genetics.

Am J Med Genet C Semin Med Genet 2007 May;145C(2):217-26

Peadiatric Surgical Research Laboratories at Massachusetts General Hospital, Boston, MA 02114, USA.

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http://dx.doi.org/10.1002/ajmg.c.30132DOI Listing
May 2007