Publications by authors named "Sherri J Bale"

22Publications

Next generation sequencing in clinical diagnostics: experiences of early adopters.

Clin Chem 2015 Jan 24;61(1):41-9. Epub 2014 Nov 24.

Department of Pathology and Laboratory Medicine. Women & Infants Hospital, Alpert Medical School at Brown University, Providence, RI.

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http://dx.doi.org/10.1373/clinchem.2014.222687DOI Listing
January 2015

ACMG clinical laboratory standards for next-generation sequencing.

Genet Med 2013 Sep 25;15(9):733-47. Epub 2013 Jul 25.

Laboratory for Molecular Medicine, Partners Healthcare Center for Personalized Genetic Medicine, Boston, Massachusetts, USA.

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https://www.acmg.net/docs/ACMG_Lab_Standards_Next_Generation
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http://www.nature.com/doifinder/10.1038/gim.2013.92
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http://dx.doi.org/10.1038/gim.2013.92DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4098820PMC
September 2013

Clinical and radiological features in young individuals with nevoid basal cell carcinoma syndrome.

Genet Med 2013 Jan 23;15(1):79-83. Epub 2012 Aug 23.

Division of Genetics and Metabolism, University of California, Irvine, Irvine, California, USA.

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http://www.nature.com/articles/gim201296
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http://dx.doi.org/10.1038/gim.2012.96DOI Listing
January 2013

Genetic testing in ectodermal dysplasia: availability, clinical utility, and the nuts and bolts of ordering a genetic test.

Am J Med Genet A 2009 Sep;149A(9):2052-6

GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA.

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http://dx.doi.org/10.1002/ajmg.a.32870DOI Listing
September 2009

Molecular genetic testing for ultra rare diseases: models for translation from the research laboratory to the CLIA-certified diagnostic laboratory.

Genet Med 2008 May;10(5):332-6

Department of Human Genetics, University of Chicago, Chicago, Illinois 60637, USA.

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http://dx.doi.org/10.1097/GIM.0b013e318172838dDOI Listing
May 2008

Therapeutic siRNAs for dominant genetic skin disorders including pachyonychia congenita.

J Dermatol Sci 2008 Sep 20;51(3):151-7. Epub 2008 May 20.

Department of Dermatology and Huntsman Cancer Institute, University of Utah, Salt Lake City, UT, United States.

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http://dx.doi.org/10.1016/j.jdermsci.2008.04.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2587483PMC
September 2008

Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris.

Nat Genet 2006 Mar 29;38(3):337-42. Epub 2006 Jan 29.

Epithelial Genetics Group, Human Genetics Unit, Division of Pathology and Neuroscience, University of Dundee, Ninewells Hospital & Medical School, Dundee DD1 9SY, UK.

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http://dx.doi.org/10.1038/ng1743DOI Listing
March 2006

Radiological features in 82 patients with nevoid basal cell carcinoma (NBCC or Gorlin) syndrome.

Genet Med 2004 Nov-Dec;6(6):495-502

Genetic Studies Section, Skin Biology Laboratory, NIAMS, NIH, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1097/01.gim.0000145045.17711.1cDOI Listing
February 2005

Genetic heterogeneity in erythrokeratodermia variabilis: novel mutations in the connexin gene GJB4 (Cx30.3) and genotype-phenotype correlations.

J Invest Dermatol 2003 Apr;120(4):601-9

Department of Dermatology and Cutaneous Biology, Jefferson Medical College, and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania 19107, USA.

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http://dx.doi.org/10.1046/j.1523-1747.2003.12080.xDOI Listing
April 2003

Mapping of the associated phenotype of an absent granular layer in ichthyosis vulgaris to the epidermal differentiation complex on chromosome 1.

Exp Dermatol 2002 Dec;11(6):518-26

Laboratory of Skin Biology, National Institute of Arthritis, Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, USA.

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http://dx.doi.org/10.1034/j.1600-0625.2002.110604.xDOI Listing
December 2002

Refined mapping of Naegeli-Franceschetti- Jadassohn syndrome to a 6 cM interval on chromosome 17q11.2-q21 and investigation of candidate genes.

J Invest Dermatol 2002 Sep;119(3):692-8

Department of Dermatology and Cutaneous Biology and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania 19107, USA.

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http://linkinghub.elsevier.com/retrieve/pii/S0022202X1541780
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http://dx.doi.org/10.1046/j.1523-1747.2002.01855.xDOI Listing
September 2002

Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly.

Hum Genet 2002 Apr 2;110(4):297-301. Epub 2002 Mar 2.

Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA.

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http://dx.doi.org/10.1007/s00439-002-0695-5DOI Listing
April 2002

Auditory manifestations of Keratitis-Ichthyosis-Deafness (KID) syndrome.

Laryngoscope 2002 Feb;112(2):272-80

National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1097/00005537-200202000-00014DOI Listing
February 2002