Karen L Simon

Karen L Simon

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Karen L Simon

Karen L Simon

Publications by authors named "Karen L Simon"

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Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants.

Hum Genet 2017 04 17;136(4):409-420. Epub 2017 Feb 17.

Office of Clinical Director, National Human Genome Research Institute, National Institutes of Health, 10 Center Drive MSC 1851, Building 10, 10-C103, Bethesda, MD, 20892, USA.

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http://dx.doi.org/10.1007/s00439-017-1767-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5848494PMC
April 2017

Clinical and molecular phenotyping of a child with Hermansky-Pudlak syndrome-7, an uncommon genetic type of HPS.

Mol Genet Metab 2017 04 27;120(4):378-383. Epub 2017 Feb 27.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, 10 Center Drive, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1016/j.ymgme.2017.02.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5395203PMC
April 2017

Combined alpha-delta platelet storage pool deficiency is associated with mutations in GFI1B.

Mol Genet Metab 2017 03 18;120(3):288-294. Epub 2016 Dec 18.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States; NIH Undiagnosed Diseases Program, NIH Common Fund, National Institutes of Health, Bethesda, MD, United States; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States.

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http://dx.doi.org/10.1016/j.ymgme.2016.12.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5346474PMC
March 2017

Age-Dependent Defects of Regulatory B Cells in Wiskott-Aldrich Syndrome Gene Knockout Mice.

PLoS One 2015 8;10(10):e0139729. Epub 2015 Oct 8.

Genetics and Molecular Biology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America; Division of Immunology and Allergy, University Hospital of Lausanne, Lausanne, Switzerland.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0139729PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4598155PMC
June 2016

Molecular and phenotypic abnormalities of B lymphocytes in patients with Wiskott-Aldrich syndrome.

J Allergy Clin Immunol 2014 Mar 8;133(3):896-9.e4. Epub 2013 Nov 8.

Genetics and Molecular Biology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Md. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2013.08.050DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3943658PMC
March 2014

Esophageal perforation from a metal screw and plate.

Gastrointest Endosc 2009 Apr;69(4):948; discussion 948-9

Division of Digestive Disease, Department of Medicine, Cedars-Sinai Medical Center, Los Angeles, California, USA.

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http://dx.doi.org/10.1016/j.gie.2008.10.049DOI Listing
April 2009