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1. Carrier Screening for Mucolipidosis Type IV in the American Ashkenazi Jewish Population

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2. Warfarin Pharmacogenetics: CYP2C9 and VKORC1 Genotypes Predict Different Sensitivity and Resistance Frequencies in the Ashkenazi and Sephardi Jewish Populations

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2427171
http://www.ncbi.nlm.nih.gov/pubmed/18252229  
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3. Nucleotide sequence of the human {alpha}-galactosidase A gene


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4. CYP2C9*8 is prevalent among African–Americans: implications for pharmacogenetic dosing

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2737687
http://www.ncbi.nlm.nih.gov/pubmed/19663669  
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5. Experience with Carrier Screening and Prenatal Diagnosis for Sixteen Ashkenazi Jewish Genetic Diseases

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2970726
http://www.ncbi.nlm.nih.gov/pubmed/20672374  
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6. Type 1 Gaucher Disease: Significant disease manifestations in “asymptomatic” homozygotes identified by prenatal carrier screening

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3098047
http://www.ncbi.nlm.nih.gov/pubmed/20837833  
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7. Maple Syrup Urine Disease: Identification and Carrier-Frequency Determination of a Novel Founder Mutation in the Ashkenazi Jewish Population

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8. Multi-ethnic Distribution of Clinically Relevant CYP2C Genotypes and Haplotypes

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3396745
http://www.ncbi.nlm.nih.gov/pubmed/22491019  
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9. Combined CYP2C9, VKORC1 and CYP4F2 frequencies among racial and ethnic groups

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2904527
http://www.ncbi.nlm.nih.gov/pubmed/20504253  
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10. Analytical validation of whole exome and whole genome sequencing for clinical applications

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC
http://www.ncbi.nlm.nih.gov/pubmed/24758382  
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