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Ruth Kornreich

TitleASSOCIATE PROFESSOR
InstitutionMount Sinai
DepartmentGenetics and Genomic Sciences
Address
    Other Positions
    TitleASSOCIATE PROFESSOR
    InstitutionMount Sinai
    DepartmentObstetrics, Gynecology and Reproductive Science


     Bibliographic 
     selected publications
    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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    1. Scott SA, Tan Q, Baber U, Yang Y, Martis S, Bander J, Kornreich R, Hulot JS, Desnick RJ. 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; 15(6):783-9.
      View in: PubMed
    2. Tulchin N, Ornstein L, Dikman S, Strauchen J, Jaffer S, Nagi C, Bleiweiss I, Kornreich R, Edelmann L, Brown K, Bodian C, Nair VD, Chambon M, Woods NT, Monteiro AN. Localization of BRCA1 protein in breast cancer tissue and cell lines with mutations. Cancer Cell Int. 2013; 13(1):70.
      View in: PubMed
    3. Gan-Or Z, Ozelius LJ, Bar-Shira A, Saunders-Pullman R, Mirelman A, Kornreich R, Gana-Weisz M, Raymond D, Rozenkrantz L, Deik A, Gurevich T, Gross SJ, Schreiber-Agus N, Giladi N, Bressman SB, Orr-Urtreger A. The p.L302P mutation in the lysosomal enzyme gene SMPD1 is a risk factor for Parkinson disease. Neurology. 2013 Apr 23; 80(17):1606-10.
      View in: PubMed
    4. Martis S, Peter I, Hulot JS, Kornreich R, Desnick RJ, Scott SA. Multi-ethnic distribution of clinically relevant CYP2C genotypes and haplotypes. Pharmacogenomics J. 2013 Aug; 13(4):369-77.
      View in: PubMed
    5. Haghighi A, Masri A, Kornreich R, Desnick RJ. 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; 104(4):700-2.
      View in: PubMed
    6. Haghighi A, Rezazadeh J, Shadmehri AA, Haghighi A, Kornreich R, Desnick RJ. Identification of two HEXA mutations causing infantile-onset Tay-Sachs disease in the Persian population. J Hum Genet. 2011 Sep; 56(9):682-4.
      View in: PubMed
    7. Scott SA, Martis S, Peter I, Kasai Y, Kornreich R, Desnick RJ. Identification of CYP2C19*4B: pharmacogenetic implications for drug metabolism including clopidogrel responsiveness. Pharmacogenomics J. 2012 Aug; 12(4):297-305.
      View in: PubMed
    8. Scott SA, Edelmann L, Liu L, Luo M, Desnick RJ, Kornreich R. Experience with carrier screening and prenatal diagnosis for 16 Ashkenazi Jewish genetic diseases. Hum Mutat. 2010 Nov; 31(11):1240-50.
      View in: PubMed
    9. Balwani M, Fuerstman L, Kornreich R, Edelmann L, Desnick RJ. Type 1 Gaucher disease: significant disease manifestations in "asymptomatic" homozygotes. Arch Intern Med. 2010 Sep 13; 170(16):1463-9.
      View in: PubMed
    10. Saunders-Pullman R, Hagenah J, Dhawan V, Stanley K, Pastores G, Sathe S, Tagliati M, Condefer K, Palmese C, Br├╝ggemann N, Klein C, Roe A, Kornreich R, Ozelius L, Bressman S. Gaucher disease ascertained through a Parkinson's center: imaging and clinical characterization. Mov Disord. 2010 Jul 30; 25(10):1364-72.
      View in: PubMed
    11. Scott SA, Khasawneh R, Peter I, Kornreich R, Desnick RJ. Combined CYP2C9, VKORC1 and CYP4F2 frequencies among racial and ethnic groups. Pharmacogenomics. 2010 Jun; 11(6):781-91.
      View in: PubMed
    12. Kalman L, Wilson JA, Buller A, Dixon J, Edelmann L, Geller L, Highsmith WE, Holtegaard L, Kornreich R, Rohlfs EM, Payeur TL, Sellers T, Toji L, Muralidharan K. Development of genomic DNA reference materials for genetic testing of disorders common in people of ashkenazi jewish descent. J Mol Diagn. 2009 Nov; 11(6):530-6.
      View in: PubMed
    13. Scott SA, Jaremko M, Lubitz SA, Kornreich R, Halperin JL, Desnick RJ. CYP2C9*8 is prevalent among African-Americans: implications for pharmacogenetic dosing. Pharmacogenomics. 2009 Aug; 10(8):1243-55.
      View in: PubMed
    14. Lee KA, Williams B, Roza K, Ferguson H, David K, Eddleman K, Stone J, Edelmann L, Richard G, Gelb BD, Kornreich R. PTPN11 analysis for the prenatal diagnosis of Noonan syndrome in fetuses with abnormal ultrasound findings. Clin Genet. 2009 Feb; 75(2):190-4.
      View in: PubMed
    15. Scott SA, Edelmann L, Kornreich R, Desnick RJ. 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; 82(2):495-500.
      View in: PubMed
    16. Scott SA, Edelmann L, Kornreich R, Erazo M, Desnick RJ. CYP2C9, CYP2C19 and CYP2D6 allele frequencies in the Ashkenazi Jewish population. Pharmacogenomics. 2007 Jul; 8(7):721-30.
      View in: PubMed
    17. Kornreich R, Ekstein J, Edelmann L, Desnick RJ. Premarital and prenatal screening for cystic fibrosis: experience in the Ashkenazi Jewish population. Genet Med. 2004 Sep-Oct; 6(5):415-20.
      View in: PubMed
    18. Edelmann L, Hashmi G, Song Y, Han Y, Kornreich R, Desnick RJ. Cystic fibrosis carrier screening: validation of a novel method using BeadChip technology. Genet Med. 2004 Sep-Oct; 6(5):431-8.
      View in: PubMed
    19. Ness SL, Ben-Yosef T, Bar-Lev A, Madeo AC, Brewer CC, Avraham KB, Kornreich R, Desnick RJ, Willner JP, Friedman TB, Griffith AJ. Genetic homogeneity and phenotypic variability among Ashkenazi Jews with Usher syndrome type III. J Med Genet. 2003 Oct; 40(10):767-72.
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    20. Lehrer S, Diamond EJ, Stone NN, Droller MJ, Stock RG, Stone M, Bajwa A, Kornreich R. Elevated serum triiodothyronine (t3) in Ashkenazi Jewish prostate cancer patients carrying the I1307k allele of the APC (adenopolyposis coli) gene. Urol Oncol. 2003 Mar-Apr; 21(2):101-4.
      View in: PubMed
    21. Dong J, Edelmann L, Bajwa AM, Kornreich R, Desnick RJ. Familial dysautonomia: detection of the IKBKAP IVS20(+6T --> C) and R696P mutations and frequencies among Ashkenazi Jews. Am J Med Genet. 2002 Jul 1; 110(3):253-7.
      View in: PubMed
    22. Edelmann L, Dong J, Desnick RJ, Kornreich R. Carrier screening for mucolipidosis type IV in the American Ashkenazi Jewish population. Am J Hum Genet. 2002 Apr; 70(4):1023-7.
      View in: PubMed
    23. Edelmann L, Wasserstein MP, Kornreich R, Sansaricq C, Snyderman SE, Diaz GA. Maple syrup urine disease: identification and carrier-frequency determination of a novel founder mutation in the Ashkenazi Jewish population. Am J Hum Genet. 2001 Oct; 69(4):863-8.
      View in: PubMed
    24. Zinberg RE, Kornreich R, Edelmann L, Desnick RJ. Prenatal genetic screening in the Ashkenazi Jewish population. Clin Perinatol. 2001 Jun; 28(2):367-82.
      View in: PubMed
    25. Dong J, Katz DR, Eng CM, Kornreich R, Desnick RJ. Nonradioactive detection of the common Connexin 26 167delT and 35delG mutations and frequencies among Ashkenazi Jews. Mol Genet Metab. 2001 Jun; 73(2):160-3.
      View in: PubMed
    26. Lehrer S, McCurdy LD, Stock RG, Kornreich R, Stone NN, Eng C. Body mass, age, and the APC I1307K allele in Ashkenazi Jewish prostate cancer patients. Cancer Genet Cytogenet. 2000 Oct 15; 122(2):131-3.
      View in: PubMed
    27. Aronin N, Chase K, Young C, Sapp E, Schwarz C, Matta N, Kornreich R, Landwehrmeyer B, Bird E, Beal MF, et al. CAG expansion affects the expression of mutant Huntingtin in the Huntington's disease brain. Neuron. 1995 Nov; 15(5):1193-201.
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    28. Kornreich R, Desnick RJ. Fabry disease: detection of gene rearrangements in the human alpha-galactosidase A gene by multiplex PCR amplification. Hum Mutat. 1993; 2(2):108-11.
      View in: PubMed
    29. Kornreich R, Astrin KH, Desnick RJ. Amplification of human polymorphic sites in the X-chromosomal region q21.33 to q24: DXS17, DXS87, DXS287, and alpha-galactosidase A. Genomics. 1992 May; 13(1):70-4.
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    30. Kornreich R, Bishop DF, Desnick RJ. Alpha-galactosidase A gene rearrangements causing Fabry disease. Identification of short direct repeats at breakpoints in an Alu-rich gene. J Biol Chem. 1990 Jun 5; 265(16):9319-26.
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    31. Kornreich R, Desnick RJ, Bishop DF. Nucleotide sequence of the human alpha-galactosidase A gene. Nucleic Acids Res. 1989 Apr 25; 17(8):3301-2.
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    32. Bernstein HS, Bishop DF, Astrin KH, Kornreich R, Eng CM, Sakuraba H, Desnick RJ. Fabry disease: six gene rearrangements and an exonic point mutation in the alpha-galactosidase gene. J Clin Invest. 1989 Apr; 83(4):1390-9.
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    33. Kornreich R, Bishop DF, Desnick RJ. The gene encoding alpha-galactosidase A and gene rearrangements causing Fabry disease. Trans Assoc Am Physicians. 1989; 102:30-43.
      View in: PubMed
    34. Bishop DF, Kornreich R, Desnick RJ. Structural organization of the human alpha-galactosidase A gene: further evidence for the absence of a 3' untranslated region. Proc Natl Acad Sci U S A. 1988 Jun; 85(11):3903-7.
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    35. Meruelo D, Kornreich R, Rossomando A, Pampeno C, Boral A, Silver JL, Buxbaum J, Weiss EH, Devlin JJ, Mellor AL, et al. Lack of class I H-2 antigens in cells transformed by radiation leukemia virus is associated with methylation and rearrangement of H-2 DNA. Proc Natl Acad Sci U S A. 1986 Jun; 83(12):4504-8.
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    36. Meruelo D, Kornreich R, Rossomando A, Pampeno C, Mellor AL, Weiss EH, Flavell RA, Pellicer A. Murine leukemia virus sequences are encoded in the murine major histocompatibility complex. Proc Natl Acad Sci U S A. 1984 Mar; 81(6):1804-8.
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    37. Kornreich R. The relevance of sociology to health visiting--which type of sociology? Which type of health visiting? Health Visit. 1977 Aug; 50(8):264-5.
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    Mount Sinai Profiles is managed by Conduits - The Institutes for Translational Sciences at Icahn School of Medicine, supported by the National Center for Research Resources and the National Center for Advancing Translational Sciences of the National Institutes of Health through Grant Number UL1TR000067