Leah W Burke

Leah W Burke

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Leah W Burke

Leah W Burke

Publications by authors named "Leah W Burke"

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Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.

Genet Med 2019 04 7;21(4):867-876. Epub 2018 Sep 7.

Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA.

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http://dx.doi.org/10.1038/s41436-018-0269-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752285PMC
April 2019

Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.

Genet Med 2019 03;21(3):764-765

Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA.

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http://www.nature.com/articles/s41436-018-0326-8
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http://dx.doi.org/10.1038/s41436-018-0326-8DOI Listing
March 2019

Tissue Specificity in Trisomy 22 Mosaicism: A Tale of Caution for Interpretation of Chromosomal Microarray Results.

J Assoc Genet Technol 2018 ;44(4):137-140

Department of Pathology and Laboratory Medicine, University of Vermont Medical Center, Burlington, VT.

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January 2018

Disclosure of Genome Sequencing Results: Are Pediatricians Ready?

Authors:
Leah W Burke

Pediatrics 2015 Oct 14;136(4):e1005-6. Epub 2015 Sep 14.

The University of Vermont College of Medicine, Burlington, Vermont

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http://dx.doi.org/10.1542/peds.2015-1740DOI Listing
October 2015

Familial unilateral ectopia lentis.

J AAPOS 2007 Dec 27;11(6):620-1. Epub 2007 Aug 27.

Albany Medical College, Department of Ophthalmology, Lions Eye Institute, Slingerlands, NY 12159, USA.

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http://dx.doi.org/10.1016/j.jaapos.2007.05.008DOI Listing
December 2007

Marshall-Smith syndrome: natural history and evidence of an osteochondrodysplasia with connective tissue abnormalities.

Am J Med Genet A 2005 Aug;137(2):117-24

Department of Pediatrics, Stanford University School of Medicine, Stanford, California, USA.

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http://dx.doi.org/10.1002/ajmg.a.30580DOI Listing
August 2005