Publications by authors named "Melanie Pepin"

25Publications

Testing patterns for genetically triggered aortic and arterial aneurysms and dissections at an academic center.

J Vasc Surg 2018 09 3;68(3):701-711. Epub 2018 Mar 3.

Division of Vascular Surgery, Department of Surgery, University of Washington, Seattle, Wash. Electronic address:

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http://dx.doi.org/10.1016/j.jvs.2017.12.023DOI Listing
September 2018

What every clinical geneticist should know about testing for osteogenesis imperfecta in suspected child abuse cases.

Am J Med Genet C Semin Med Genet 2015 Dec 14;169(4):307-13. Epub 2015 Nov 14.

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http://dx.doi.org/10.1002/ajmg.c.31459DOI Listing
December 2015

The challenge of comprehensive and consistent sequence variant interpretation between clinical laboratories.

Genet Med 2016 Jan 2;18(1):20-4. Epub 2015 Apr 2.

Department of Pathology, University of Washington, Seattle, Washington, USA.

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http://www.nature.com/articles/gim201531
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http://dx.doi.org/10.1038/gim.2015.31DOI Listing
January 2016

Vascular Ehlers-Danlos Syndrome in siblings with biallelic COL3A1 sequence variants and marked clinical variability in the extended family.

Eur J Hum Genet 2015 Jun 10;23(6):796-802. Epub 2014 Sep 10.

1] Department of Pathology, Seattle, WA,USA [2] Department of Medicine (Medical Genetics), University of Washington, Seattle, WA, USA.

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http://dx.doi.org/10.1038/ejhg.2014.181DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4795069PMC
June 2015

Pregnancy-related deaths and complications in women with vascular Ehlers-Danlos syndrome.

Genet Med 2014 Dec 12;16(12):874-80. Epub 2014 Jun 12.

1] Department of Pathology, University of Washington, Seattle, Washington, USA [2] Department of Medicine (Medical Genetics), University of Washington, Seattle, Washington, USA.

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http://www.nature.com/articles/gim201453
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http://dx.doi.org/10.1038/gim.2014.53DOI Listing
December 2014

Survival is affected by mutation type and molecular mechanism in vascular Ehlers-Danlos syndrome (EDS type IV).

Genet Med 2014 Dec 12;16(12):881-8. Epub 2014 Jun 12.

1] Department of Pathology, University of Washington, Seattle, Washington, USA [2] Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, Washington, USA.

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http://dx.doi.org/10.1038/gim.2014.72DOI Listing
December 2014

Allelic background of LEPRE1 mutations that cause recessive forms of osteogenesis imperfecta in different populations.

Mol Genet Genomic Med 2013 Nov 26;1(4):194-205. Epub 2013 Jun 26.

Department of Pathology, University of Washington Seattle, Washington ; Department of Medicine (Medical Genetics), University of Washington Seattle, Washington.

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http://doi.wiley.com/10.1002/mgg3.21
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http://dx.doi.org/10.1002/mgg3.21DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3865588PMC
November 2013

MRI of great vessel morphology and function in Ehlers-Danlos syndrome type IV.

Int J Cardiovasc Imaging 2008 Jun 28;24(5):519-28. Epub 2007 Nov 28.

Department of Radiology, University of Washington, 815 Mercer Street, Box 358050, Seattle, WA 98109, USA.

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http://link.springer.com/10.1007/s10554-007-9283-z
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http://dx.doi.org/10.1007/s10554-007-9283-zDOI Listing
June 2008