Publications by authors named "Settara C Chandrasekharappa"

52Publications

Multiplexed CRISPR/Cas9-mediated knockout of 19 Fanconi anemia pathway genes in zebrafish revealed their roles in growth, sexual development and fertility.

PLoS Genet 2018 12 12;14(12):e1007821. Epub 2018 Dec 12.

Cancer Genomics Unit, Cancer Genetics and Comparative Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America.

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http://dx.plos.org/10.1371/journal.pgen.1007821
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http://dx.doi.org/10.1371/journal.pgen.1007821DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6328202PMC
December 2018

Whole-Exome Sequencing for Diagnosis of Turner Syndrome: Toward Next-Generation Sequencing and Newborn Screening.

J Clin Endocrinol Metab 2017 05;102(5):1529-1537

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892.

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http://dx.doi.org/10.1210/jc.2016-3414DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5443329PMC
May 2017

Novel FANCI mutations in Fanconi anemia with VACTERL association.

Am J Med Genet A 2016 Feb 21;170A(2):386-391. Epub 2015 Nov 21.

Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, Maryland.

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http://dx.doi.org/10.1002/ajmg.a.37461DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7158112PMC
February 2016

Evidence of polyclonality in neurofibromatosis type 2-associated multilobulated vestibular schwannomas.

Neuro Oncol 2015 Apr 1;17(4):566-73. Epub 2014 Dec 1.

Surgical Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland (R.D., K.L.M., R.A.V., P.C., X.W., A.R.-C., A.R.A.); Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, Maryland (A.P., D.R.S.); Office of the Clinical Director, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, Maryland (H.J.K.); Radiology and Imaging Sciences, The Clinical Center at the National Institutes of Health, National Institutes of Health, Bethesda, Maryland (J.A.B.); Cancer Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland (S.C.C.); Department of Neurosurgery, University of Virginia, CDW, Charlottesville, Virginia (A.R.A.).

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http://dx.doi.org/10.1093/neuonc/nou317DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4483079PMC
April 2015

Immune complex-mediated autoimmunity in a patient With Smith-Magenis syndrome (del 17p11.2).

J Clin Rheumatol 2014 Aug;20(5):291-3

From the*Division of Rheumatology, Department of Medicine, University of Minnesota, Minneapolis, MN; and †Cancer Genetics Branch, ‡Medical Genetics Branch, and §Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD.

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http://dx.doi.org/10.1097/RHU.0000000000000118DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4201030PMC
August 2014

One in four individuals of African-American ancestry harbors a 5.5kb deletion at chromosome 11q13.1.

Genomics 2014 Apr 10;103(4):276-87. Epub 2014 Jan 10.

Division of General Surgery, Department of Surgery, VAGLAHS West Los Angeles, David Geffen School of Medicine at UCLA, Los Angeles, CA 90073, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ygeno.2014.01.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4162346PMC
April 2014

Efficient methods for targeted mutagenesis in zebrafish using zinc-finger nucleases: data from targeting of nine genes using CompoZr or CoDA ZFNs.

PLoS One 2013 22;8(2):e57239. Epub 2013 Feb 22.

Zebrafish Core Facility, Genetics and Molecular Biology Branch, National Human Genome Research Institute, Bethesda, Maryland, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0057239PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3579846PMC
September 2013

Incidental medical information in whole-exome sequencing.

Pediatrics 2012 Jun 14;129(6):e1605-11. Epub 2012 May 14.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA.

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http://dx.doi.org/10.1542/peds.2011-0080DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3362899PMC
June 2012

Menin induces endodermal differentiation in aggregated P19 stem cells by modulating the retinoic acid receptors.

Mol Cell Biochem 2012 Jan 11;359(1-2):95-104. Epub 2011 Aug 11.

Cancer Genetics Branch, National Human Genome Research Institute, National Institutes of Health, 50 South Dr, Bldg 50, Room 5232, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1007/s11010-011-1003-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3412628PMC
January 2012

De novo deletion of chromosome 20q13.33 in a patient with tracheo-esophageal fistula, cardiac defects and genitourinary anomalies implicates GTPBP5 as a candidate gene.

Birth Defects Res A Clin Mol Teratol 2011 Sep 23;91(9):862-5. Epub 2011 May 23.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA.

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http://dx.doi.org/10.1002/bdra.20821DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3193386PMC
September 2011

Analysis of FOXF1 and the FOX gene cluster in patients with VACTERL association.

Eur J Med Genet 2011 May-Jun;54(3):323-8. Epub 2011 Feb 26.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Building 35, Room 1B207, 35 Convent Drive MSC 3717, Bethesda, MD 20892-3717, United States.

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http://dx.doi.org/10.1016/j.ejmg.2011.01.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3086932PMC
September 2011

The tumor suppressor protein menin inhibits AKT activation by regulating its cellular localization.

Cancer Res 2011 Jan 2;71(2):371-82. Epub 2010 Dec 2.

Metabolic Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, NIH, Bethesda, Maryland 20892, USA.

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http://dx.doi.org/10.1158/0008-5472.CAN-10-3221DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3076053PMC
January 2011

In vitro hematopoietic differentiation of mouse embryonic stem cells requires the tumor suppressor menin and is mediated by Hoxa9.

Mech Dev 2009 Jul 22;126(7):517-22. Epub 2009 Apr 22.

Genome Technology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1016/j.mod.2009.04.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2717021PMC
July 2009

The parathyroid/pituitary variant of multiple endocrine neoplasia type 1 usually has causes other than p27Kip1 mutations.

J Clin Endocrinol Metab 2007 May 13;92(5):1948-51. Epub 2007 Feb 13.

National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892-1802, USA.

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http://dx.doi.org/10.1210/jc.2006-2563DOI Listing
May 2007

Methods for reverse genetic screening in zebrafish by resequencing and TILLING.

Methods 2006 Jul;39(3):220-7

Genetics and Molecular Biology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.

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http://dx.doi.org/10.1016/j.ymeth.2006.04.012DOI Listing
July 2006

A 700-kb physical and transcription map of the cervical cancer tumor suppressor gene locus on chromosome 11q13.

Genomics 2005 Jun 9;85(6):704-14. Epub 2005 Apr 9.

Department of Surgery 10H2, VAGLAHS West Los Angeles, David Geffen School of Medicine, University of California at Los Angeles, Building 304, Room E2-218, 11301 Wiltshire Boulevard, West Los Angeles, CA 90073, USA.

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http://dx.doi.org/10.1016/j.ygeno.2005.02.014DOI Listing
June 2005

Transcription factor JunD, deprived of menin, switches from growth suppressor to growth promoter.

Proc Natl Acad Sci U S A 2003 Sep 5;100(19):10770-5. Epub 2003 Sep 5.

Metabolic Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1073/pnas.1834524100DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC196878PMC
September 2003

Hyperparathyroidism in hereditary syndromes: special expressions and special managements.

J Bone Miner Res 2002 Nov;17 Suppl 2:N37-43

Metabolic Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, Bethesda, Maryland 20892-1802, USA.

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November 2002