Publications by authors named "Amy Calhoun"

20Publications

How a baby with classic galactosemia was nearly missed: When the test succeeds but system fails.

Am J Med Genet A 2020 07 10;182(7):1750-1753. Epub 2020 Apr 10.

Center for Translational Research, Children's National Research Institute, Children's National Medical Center, Washington, District of Columbia, USA.

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http://dx.doi.org/10.1002/ajmg.a.61587DOI Listing
July 2020

Misclassification of VLCAD carriers due to variable confirmatory testing after a positive NBS result.

J Community Genet 2019 Oct 5;10(4):447-451. Epub 2019 Feb 5.

Stead Family Department of Pediatrics, Medical Genetics, University of Iowa Hospitals and Clinics, Iowa City, IA, USA.

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http://dx.doi.org/10.1007/s12687-019-00409-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6754489PMC
October 2019

Risk of hepatic neoplasms in Wolf-Hirschhorn syndrome (4p-): Four new cases and review of the literature.

Am J Med Genet A 2018 11 5;176(11):2389-2394. Epub 2018 Oct 5.

Division of Medical Genetics, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, Utah.

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http://doi.wiley.com/10.1002/ajmg.a.40469
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http://dx.doi.org/10.1002/ajmg.a.40469DOI Listing
November 2018

Next generation sequencing in endocrine practice.

Mol Genet Metab 2015 Jun-Jul;115(2-3):61-71. Epub 2015 May 3.

Department of Pediatrics, Division of Pediatric Endocrinology, University of Minnesota Masonic Children's Hospital, Minneapolis, MN 55454, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2015.05.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4818590PMC
March 2016

Biochemical abnormalities in Pearson syndrome.

Am J Med Genet A 2015 Mar;167A(3):621-8

Department of Pediatrics, Division of Medical Genetics, University of Utah, Salt Lake City, Utah; University of Milano, Milan, Italy.

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http://doi.wiley.com/10.1002/ajmg.a.36939
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http://dx.doi.org/10.1002/ajmg.a.36939DOI Listing
March 2015

Distal Xq28 microdeletions: clarification of the spectrum of contiguous gene deletions involving ABCD1, BCAP31, and SLC6A8 with a new case and review of the literature.

Am J Med Genet A 2014 Oct 9;164A(10):2613-7. Epub 2014 Jul 9.

Genetics and Metabolism, Department of Pediatrics, University of Minnesota, Minneapolis, Minnesota.

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http://dx.doi.org/10.1002/ajmg.a.36661DOI Listing
October 2014

Academia, advocacy, and industry: a collaborative method for clinical research advancement.

Am J Med Genet A 2014 Jul 3;164A(7):1619-21. Epub 2014 Apr 3.

Lineagen, Inc, Salt Lake City, Utah.

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http://doi.wiley.com/10.1002/ajmg.a.36509
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http://dx.doi.org/10.1002/ajmg.a.36509DOI Listing
July 2014

Phenotype of a patient with contiguous deletion of TBX5 and TBX3: expanding the disease spectrum.

Am J Med Genet A 2014 May 24;164A(5):1304-9. Epub 2014 Mar 24.

Division of Pediatric Cardiology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, Utah.

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http://dx.doi.org/10.1002/ajmg.a.36447DOI Listing
May 2014

Spinal arteriovenous fistulas in children with hereditary hemorrhagic telangiectasia.

J Neurosurg Pediatr 2012 Jun;9(6):654-9

Department of Pediatrics, Division of Medical Genetics, Primary Children’s Medical Center, Salt Lake City, UT 84113, USA.

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http://dx.doi.org/10.3171/2012.2.PEDS11446DOI Listing
June 2012

A gold nanoparticle platform for protein-protein interactions and drug discovery.

ACS Appl Mater Interfaces 2011 Aug 14;3(8):2979-87. Epub 2011 Jul 14.

Minerva Biotechnologies, 40 Bear Hill Road, Waltham, Massachusetts 02451, United States.

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http://dx.doi.org/10.1021/am200459aDOI Listing
August 2011

Stability of DNA containing a structural water mimic in an A-T rich sequence.

J Am Chem Soc 2011 Feb 18;133(6):1766-8. Epub 2011 Jan 18.

Department of Chemistry, Merkert Chemistry Center, Boston College, 2609 Beacon Street, Chestnut Hill, Massachusetts 02467, United States.

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http://dx.doi.org/10.1021/ja1103684DOI Listing
February 2011

Preparation of the 2'-deoxynucleosides of 2,6-diaminopurine and isoguanine by direct glycosylation.

J Org Chem 2010 Mar;75(5):1360-5

Department of Chemistry, Merkert Chemistry Center, Boston College, Chestnut Hill, Massachusetts 02467, USA.

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http://dx.doi.org/10.1021/jo902616sDOI Listing
March 2010

Tetramethylsuccinimide as a directing/protecting group in purine glycosylations.

Org Lett 2010 Jan;12(1):120-2

Department of Chemistry, Merkert Chemistry Center, Boston College, Chestnut Hill, Massachusetts 02467, USA.

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http://pubs.acs.org/doi/abs/10.1021/ol9025028
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http://dx.doi.org/10.1021/ol9025028DOI Listing
January 2010