Laurie A Demmer

Laurie A Demmer

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Laurie A Demmer

Laurie A Demmer

Publications by authors named "Laurie A Demmer"

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18Publications

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Report on the Banbury Summit Meeting on medical genetics training in the genomic era, 23-26 February 2014.

Genet Med 2017 09 27;19(9). Epub 2017 Apr 27.

American College of Medical Genetics and Genomics, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1038/gim.2017.38DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5589971PMC
September 2017

Professional medical education and genomics.

Annu Rev Genomics Hum Genet 2014 12;15:507-16. Epub 2014 Mar 12.

Department of Pediatrics, Carolinas Medical Center, Charlotte, North Carolina 28232; email:

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http://dx.doi.org/10.1146/annurev-genom-090413-025522DOI Listing
May 2015

Surveying the current landscape of clinical genetics residency training.

Genet Med 2015 May 18;17(5):386-90. Epub 2014 Sep 18.

Children's Hospital, Greenville Health System, Greenville, South Carolina, USA.

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http://dx.doi.org/10.1038/gim.2014.108DOI Listing
May 2015

A description of spina bifida cases and co-occurring malformations, 1976-2011.

Am J Med Genet A 2014 Feb 19;164A(2):432-40. Epub 2013 Dec 19.

Slone Epidemiology Center at Boston University, Boston, Massachusetts.

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http://doi.wiley.com/10.1002/ajmg.a.36324
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http://dx.doi.org/10.1002/ajmg.a.36324DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4353584PMC
February 2014

Keratoconus in Costello syndrome.

Am J Med Genet A 2013 May 13;161A(5):1132-6. Epub 2013 Mar 13.

Division of Medical Genetics, A. I. duPont Hospital for Children, Wilmington, DE, USA.

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http://dx.doi.org/10.1002/ajmg.a.35816DOI Listing
May 2013

Maternal tea consumption during early pregnancy and the risk of spina bifida.

Birth Defects Res A Clin Mol Teratol 2012 Oct 29;94(10):756-61. Epub 2012 May 29.

Slone Epidemiology Center at Boston University, Boston, MA, USA.

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http://dx.doi.org/10.1002/bdra.23025DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4557736PMC
October 2012

Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.

Hum Mutat 2012 Jun 4;33(6):949-59. Epub 2012 Apr 4.

Department of Translational Medicine and Neurogenetics, Institut de Génétique et de Biologie Moléculaire et Cellulaire, INSERM U964/CNRS UMR7104, University of Strasbourg, Collège de France, Illkirch, France.

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http://dx.doi.org/10.1002/humu.22067DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3374402PMC
June 2012

The natural history of trisomy 12p.

Am J Med Genet A 2006 Apr;140(7):695-703

Department of Pediatrics, Division of Genetics, Tufts-New England Medical Center, Boston, Massachusetts 02111, USA.

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http://doi.wiley.com/10.1002/ajmg.a.31143
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http://dx.doi.org/10.1002/ajmg.a.31143DOI Listing
April 2006

The etiology of thyroid dysgenesis-still an enigma after all these years.

J Clin Endocrinol Metab 2002 Sep;87(9):4069-71

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http://dx.doi.org/10.1210/jc.2002-021092DOI Listing
September 2002