Publications by authors named "Ruth Kornreich"

36Publications

Clinical Genetic Testing for Fragile X Syndrome by Polymerase Chain Reaction Amplification and Southern Blot Analyses.

Methods Mol Biol 2019 ;1942:11-27

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.

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August 2019

Integrated CYP2D6 interrogation for multiethnic copy number and tandem allele detection.

Pharmacogenomics 2019 01 6;20(1):9-20. Epub 2018 Dec 6.

Department of Genetics & Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.

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January 2019

Prenatal Diagnosis of Tay-Sachs Disease.

Methods Mol Biol 2019 ;1885:233-250

Mount Sinai Genomics, Inc., DBA Sema 4, New York, NY, USA.

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June 2019

Prenatal Diagnosis of Cystic Fibrosis.

Methods Mol Biol 2019 ;1885:221-231

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.

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June 2019

Analytical Validation of a Personalized Medicine APOL1 Genotyping Assay for Nondiabetic Chronic Kidney Disease Risk Assessment.

J Mol Diagn 2016 Mar 7;18(2):260-6. Epub 2016 Jan 7.

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York. Electronic address:

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March 2016

ClinLabGeneticist: a tool for clinical management of genetic variants from whole exome sequencing in clinical genetic laboratories.

Genome Med 2015 Jul 29;7:77. Epub 2015 Jul 29.

Department of Genetics and Genomic Sciences, Icahn Institute for Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, New York, NY, USA.

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July 2015

Genetics of GNE myopathy in the non-Jewish Persian population.

Eur J Hum Genet 2016 Feb 13;24(2):243-51. Epub 2015 May 13.

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.

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February 2016

The Ashkenazi Jewish carrier screening panel: evolution, status quo, and disparities.

Prenat Diagn 2014 Dec 31;34(12):1161-7. Epub 2014 Jul 31.

Division of Genetics, Floating Hospital for Children, Tufts Medical Center, Boston, MA, USA.

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December 2014

Analytical validation of whole exome and whole genome sequencing for clinical applications.

BMC Med Genomics 2014 Apr 23;7:20. Epub 2014 Apr 23.

Icahn Institute for Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, New York, NY, USA.

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April 2014

Homozygous p.R284* mutation in HEXB gene causing Sandhoff disease with nystagmus.

Eur J Paediatr Neurol 2014 May 21;18(3):399-403. Epub 2014 Feb 21.

Department of Genetics, Harvard Medical School, Boston, MA, USA; Department of Medicine and the Howard Hughes Medical Institute, Brigham and Women's Hospital, Boston, MA, USA. Electronic address:

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May 2014

An allele-specific PCR system for rapid detection and discrimination of the CYP2C19∗4A, ∗4B, and ∗17 alleles: implications for clopidogrel response testing.

J Mol Diagn 2013 Nov 5;15(6):783-9. Epub 2013 Sep 5.

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York. Electronic address:

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November 2013

An Ashkenazi Jewish SMN1 haplotype specific to duplication alleles improves pan-ethnic carrier screening for spinal muscular atrophy.

Genet Med 2014 Feb 20;16(2):149-56. Epub 2013 Jun 20.

Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine of New York University, New York, New York, USA.

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February 2014

Tay-Sachs disease in an Arab family due to c.78G>A HEXA nonsense mutation encoding a p.W26X early truncation enzyme peptide.

Mol Genet Metab 2011 Dec 16;104(4):700-2. Epub 2011 Sep 16.

Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.

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December 2011

Identification of two HEXA mutations causing infantile-onset Tay-Sachs disease in the Persian population.

J Hum Genet 2011 Sep 28;56(9):682-4. Epub 2011 Jul 28.

Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.

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September 2011

Type 1 Gaucher disease: significant disease manifestations in "asymptomatic" homozygotes.

Arch Intern Med 2010 Sep;170(16):1463-9

Comprehensive Gaucher Disease Treatment Center, Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, New York, USA.

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September 2010

Experience with carrier screening and prenatal diagnosis for 16 Ashkenazi Jewish genetic diseases.

Hum Mutat 2010 Nov;31(11):1240-50

Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine of New York University, New York, NY 10029, USA.

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November 2010

Combined CYP2C9, VKORC1 and CYP4F2 frequencies among racial and ethnic groups.

Pharmacogenomics 2010 Jun;11(6):781-91

Department of Genetics & Genomic Sciences, Box 1498, Mount Sinai School of Medicine of New York University, Fifth Avenue at 100th Street, New York, NY 10029, USA.

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June 2010

Development of genomic DNA reference materials for genetic testing of disorders common in people of ashkenazi jewish descent.

J Mol Diagn 2009 Nov 8;11(6):530-6. Epub 2009 Oct 8.

Laboratory Practice Evaluation and Genomics Branch, National Center for Preparedness, Detection and Control of Infectious Diseases, Centers for Disease Control and Prevention, 1600 Clifton Road, Mailstop G23, Atlanta, GA 30333, USA.

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November 2009

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

Pharmacogenomics 2009 Aug;10(8):1243-55

Department of Genetics & Genomic Sciences, Mount Sinai School of Medicine of New York University, New York, NY 10029, USA.

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August 2009

Warfarin pharmacogenetics: CYP2C9 and VKORC1 genotypes predict different sensitivity and resistance frequencies in the Ashkenazi and Sephardi Jewish populations.

Am J Hum Genet 2008 Feb 17;82(2):495-500. Epub 2008 Jan 17.

Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine of New York University, New York, NY 10029, USA.

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February 2008

CYP2C9, CYP2C19 and CYP2D6 allele frequencies in the Ashkenazi Jewish population.

Pharmacogenomics 2007 Jul;8(7):721-30

Mount Sinai School of Medicine of New York University, Department of Genetics and Genomic Sciences, Box 1498, Fifth Avenue at 100th Street, New York, NY 10029, USA.

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July 2007

Cystic fibrosis carrier screening: validation of a novel method using BeadChip technology.

Genet Med 2004 Sep-Oct;6(5):431-8

Department of Human Genetics, Mount Sinai School of Medicine, New York, NY 10029, USA.

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February 2005

Premarital and prenatal screening for cystic fibrosis: experience in the Ashkenazi Jewish population.

Genet Med 2004 Sep-Oct;6(5):415-20

Department of Human Genetics, Mount Sinai School of Medicine, New York, NY 10029, USA.

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February 2005

Familial dysautonomia: detection of the IKBKAP IVS20(+6T --> C) and R696P mutations and frequencies among Ashkenazi Jews.

Am J Med Genet 2002 Jul;110(3):253-7

Department of Human Genetics, Mount Sinai School of Medicine of New York University, New York, New York 10029, USA.

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July 2002

Carrier screening for mucolipidosis type IV in the American Ashkenazi Jewish population.

Am J Hum Genet 2002 Apr 13;70(4):1023-7. Epub 2002 Feb 13.

Department of Human Genetics, Mount Sinai School of Medicine, New York University, Fifth Avenue at 100th Street, New York, NY 10029, USA.

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April 2002