Deepali N Shinde

Deepali N Shinde

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Deepali N Shinde

Deepali N Shinde

Publications by authors named "Deepali N Shinde"

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Deficiency of WARS2, encoding mitochondrial tryptophanyl tRNA synthetase, causes severe infantile onset leukoencephalopathy.

Am J Med Genet A 2017 Sep 26;173(9):2505-2510. Epub 2017 Jun 26.

Hugo W. Moser Research Institute at Kennedy Krieger, Kennedy Krieger Institute, Baltimore, Maryland.

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http://dx.doi.org/10.1002/ajmg.a.38339DOI Listing
September 2017

Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.

Genet Med 2016 09 21;18(9):898-905. Epub 2016 Jan 21.

Division of Neurology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.

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http://dx.doi.org/10.1038/gim.2015.186DOI Listing
September 2016

De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome.

Am J Hum Genet 2016 09 18;99(3):711-719. Epub 2016 Aug 18.

Mitchell Cancer Institute, University of South Alabama, Mobile, AL 36604, USA; Department of Biochemistry and Molecular Biology, College of Medicine, University of South Alabama, Mobile, AL 36688, USA. Electronic address:

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http://www.cell.com/ajhg/pdf/S0002-9297(16)30267-1.pdf
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http://linkinghub.elsevier.com/retrieve/pii/S000292971630267
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http://dx.doi.org/10.1016/j.ajhg.2016.06.029DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5011044PMC
September 2016

Simple system for isothermal DNA amplification coupled to lateral flow detection.

PLoS One 2013 26;8(7):e69355. Epub 2013 Jul 26.

Keck Graduate Institute of Applied Life Sciences, Claremont, California, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0069355PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3724848PMC
April 2014

New evidence for positive selection helps explain the paternal age effect observed in achondroplasia.

Hum Mol Genet 2013 Oct 4;22(20):4117-26. Epub 2013 Jun 4.

The authors wish it to be known that, in their opinion, the first two authors should be regarded as joint First Authors.

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http://dx.doi.org/10.1093/hmg/ddt260DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3781639PMC
October 2013