Carolyn Sue Richards

Carolyn Sue Richards

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Carolyn Sue Richards

Carolyn Sue Richards

Publications by authors named "Carolyn Sue Richards"

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Evidence for an association between infant mortality and homozygosity for the arctic variant of carnitine palmitoyltransferase 1A.

Genet Med 2016 09 28;18(9):933-9. Epub 2016 Jan 28.

Department of Molecular and Medical Genetics, Oregon Health & Science University, Portland, Oregon, USA.

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http://dx.doi.org/10.1038/gim.2015.197DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4965343PMC
September 2016

Methods-based proficiency testing in molecular genetic pathology.

J Mol Diagn 2014 May 18;16(3):283-7. Epub 2014 Mar 18.

Department of Pathology and Laboratory Medicine, University of North Carolina, Chapel Hill, North Carolina; Department of Genetics, University of North Carolina, Chapel Hill, North Carolina.

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http://dx.doi.org/10.1016/j.jmoldx.2014.02.002DOI Listing
May 2014

Improving the efficiency and relevance of evidence-based recommendations in the era of whole-genome sequencing: an EGAPP methods update.

Genet Med 2013 Jan 6;15(1):14-24. Epub 2012 Sep 6.

Department of Pharmacy, Pharmaceutical Outcomes Research and Policy Program, Institute for Public Health Genetics, University of Washington, Seattle, Washington, USA.

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http://dx.doi.org/10.1038/gim.2012.106DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3932295PMC
January 2013

Standards and guidelines for CFTR mutation testing.

Genet Med 2002 Sep-Oct;4(5):379-91

Molecular Subcommittee of the Laboratory Quality Assurance Committee, American College of Medical Genetics, 9650 Rockville Pike, Bethesda, MD 20914-3998, USA.

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https://www.goodstartgenetics.com/wp-content/uploads/ACMG-st
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http://dx.doi.org/10.109700125817-200209000-00010DOI Listing
March 2003