Publications by authors named "Tina Hambuch"

17Publications

Reducing false-positive incidental findings with ensemble genotyping and logistic regression based variant filtering methods.

Hum Mutat 2014 Aug 24;35(8):936-44. Epub 2014 Jun 24.

Children's Hospital Informatics Program at the Harvard-MIT Division of Health Sciences and Technology, Boston Children's Hospital, Boston, Massachusetts; School of Computer Science and Engineering, Soongsil University, Seoul, 156-743, South Korea.

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http://dx.doi.org/10.1002/humu.22587DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4112476PMC
August 2014

Bioinformatics: what the clinical laboratorian needs to know and prepare for.

Clin Chem 2013 Sep 30;59(9):1301-5. Epub 2013 May 30.

, Geisel School of Medicine at Dartmouth, Dartmouth-Hitchcock Medical Center, Lebanon, NH 03756, USA.

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http://dx.doi.org/10.1373/clinchem.2012.198226DOI Listing
September 2013

Platelet hexosaminidase a enzyme assay effectively detects carriers missed by targeted DNA mutation analysis.

JIMD Rep 2012 31;6:1-6. Epub 2012 Jan 31.

Human Genetics Laboratory, Department of Pathology, Jacobi Medical Center, 1400 Pelham Parkway S., Building 1, 6N28B, Bronx, NY, 10461, USA.

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http://dx.doi.org/10.1007/8904_2011_120DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3565630PMC
February 2013

The role of the F508C mutation in congenital bilateral absence of the vas deferens.

Genet Med 2008 Dec;10(12):910-4

Gregory Fleming James Cystic Fibrosis Research Center, University of Alabama at Birmingham, Alabama 35294, USA.

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http://dx.doi.org/10.1097/GIM.0b013e31818e594dDOI Listing
December 2008

Patterns of synonymous codon usage in Drosophila melanogaster genes with sex-biased expression.

Genetics 2005 Aug 3;170(4):1691-700. Epub 2005 Jun 3.

Section of Evolutionary Biology, Department of Biology II, University of Munich (LMU), 82152 Munich, Germany.

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http://dx.doi.org/10.1534/genetics.104.038109DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1449783PMC
August 2005

Population genetic analysis of Bartonella bacilliformis isolates from areas of peru where Carrion's disease is endemic and epidemic.

J Clin Microbiol 2004 Aug;42(8):3675-80

Division of Viral and Rickettsial Diseases, National Center for Infectious Diseases, Centers for Disease Control and Prevantion, Clifton Rd. NE, MS G-13, Atlanta, GA 30333, USA.

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http://dx.doi.org/10.1128/JCM.42.8.3675-3680.2004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC497641PMC
August 2004

Molecular evolution of sex-biased genes in Drosophila.

Mol Biol Evol 2004 Nov 28;21(11):2130-9. Epub 2004 Jul 28.

Department of Biology II, Section of Evolutionary Biology, University of Munich (LMU), Munich, Germany.

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http://dx.doi.org/10.1093/molbev/msh223DOI Listing
November 2004

Enhanced selection for MHC diversity in social tuco-tucos.

Evolution 2002 Apr;56(4):841-5

Museum of Vertebrate Zoology and Department of Integrative Biology, University of California, Berkeley 94720, USA.

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http://dx.doi.org/10.1111/j.0014-3820.2002.tb01395.xDOI Listing
April 2002