Multi-ethnic distribution of clinically relevant CYP2C genotypes and haplotypes
Martis, S, Peter, I, Hulot, J-S, Kornreich, R, Desnick, R J, Scott, S A
Published in The pharmacogenomics journal (01.08.2013)
Published in The pharmacogenomics journal (01.08.2013)
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Journal Article
Comprehensive population screening in the Ashkenazi Jewish population for recurrent disease‐causing variants
Shi, L., Webb, B.D., Birch, A.H., Elkhoury, L., McCarthy, J., Cai, X., Oishi, K., Mehta, L., Diaz, G.A., Edelmann, L., Kornreich, R.
Published in Clinical genetics (01.04.2017)
Published in Clinical genetics (01.04.2017)
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Journal Article
Identification of CYP2C194B: pharmacogenetic implications for drug metabolism including clopidogrel responsiveness
Scott, S A, Martis, S, Peter, I, Kasai, Y, Kornreich, R, Desnick, R J
Published in The pharmacogenomics journal (01.08.2012)
Published in The pharmacogenomics journal (01.08.2012)
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Journal Article
Carrier screening of RTEL1 mutations in the Ashkenazi Jewish population
Fedick, A.M., Shi, L., Jalas, C., Treff, N.R., Ekstein, J., Kornreich, R., Edelmann, L., Mehta, L., Savage, S.A.
Published in Clinical genetics (01.08.2015)
Published in Clinical genetics (01.08.2015)
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Journal Article
PTPN11 analysis for the prenatal diagnosis of Noonan syndrome in fetuses with abnormal ultrasound findings
Lee, KA, Williams, B, Roza, K, Ferguson, H, David, K, Eddleman, K, Stone, J, Edelmann, L, Richard, G, Gelb, BD, Kornreich, R
Published in Clinical genetics (01.02.2009)
Published in Clinical genetics (01.02.2009)
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Journal Article
A founder mutation in COL4A3 causes autosomal recessive Alport syndrome in the Ashkenazi Jewish population
Webb, B.D., Brandt, T., Liu, L., Jalas, C., Liao, J., Fedick, A., Linderman, M.D., Diaz, G.A., Kornreich, R., Trachtman, H., Mehta, L., Edelmann, L.
Published in Clinical genetics (01.08.2014)
Published in Clinical genetics (01.08.2014)
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Journal Article
Next-generation sequencing for detection of mutations associated with rare disorders in patients meeting diagnostic criteria for primary progressive multiple sclerosis
Weisfeld-Adams, J.D, Ludtke, A, Scott, S.A, Katzsand, I, Naik, H, Linderman, M.D, Paizan-Ruiz, C, Wasserstein, M.P, Shi, L, Brandt, T, McGraw, C.A, Kornreich, R, Farrell, C, Schadt, E.E, Lublin, F.D, Oksenberg, J.S
Published in Journal of the neurological sciences (15.10.2013)
Published in Journal of the neurological sciences (15.10.2013)
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Journal Article
Genetic homogeneity and phenotypic variability among Ashkenazi Jews with Usher syndrome type III
Ness, S L, Ben-Yosef, T, Bar-Lev, A, Madeo, A C, Brewer, C C, Avraham, K B, Kornreich, R, Desnick, R J, Willner, J P, Friedman, T B, Griffith, A J
Published in Journal of medical genetics (01.10.2003)
Published in Journal of medical genetics (01.10.2003)
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Journal Article
Cognitive and Antipsychotic Medication Use in Monoallelic GBA-Related Parkinson Disease
Barrett, M. J., Shanker, V. L., Severt, W. L., Raymond, D., Gross, S. J., Schreiber-Agus, N., Kornreich, R., Ozelius, L. J., Bressman, S. B., Saunders-Pullman, R.
Published in JIMD Reports Volume 16 (01.01.2014)
Published in JIMD Reports Volume 16 (01.01.2014)
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Book Chapter
Journal Article
Association between serum triiodothyronine (t3) level and risk of disease recurrence in men with localized prostate cancer
Lehrer, S, Diamond, E J, Bajwa, A M, Kornreich, R, Stagger, S, Stone, N N, Droller, M J, Stock, R G
Published in Prostate cancer and prostatic diseases (01.01.2001)
Published in Prostate cancer and prostatic diseases (01.01.2001)
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Journal Article
Gaucher disease ascertained through a Parkinson's center: Imaging and clinical characterization
Saunders-Pullman, Rachel, Hagenah, Johann, Dhawan, Vijay, Stanley, Kaili, Pastores, Gregory, Sathe, Swati, Tagliati, Michele, Condefer, Kelly, Palmese, Christina, Brüggemann, Norbert, Klein, Christine, Roe, AM, Kornreich, Ruth, Ozelius, Laurie, Bressman, Susan
Published in Movement disorders (30.07.2010)
Published in Movement disorders (30.07.2010)
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Journal Article
Lack of Class I H-2 Antigens in Cells Transformed by Radiation Leukemia Virus is Associated with Methylation and Rearrangement of H-2 DNA
Meruelo, Daniel, Kornreich, Ruth, Rossomando, Anthony, Pampeno, Christine, Boral, Anthony, Silver, Jack L., Buxbaum, Joel, Weiss, Elizabeth H., Devlin, James J., Mellor, Andrew L., Flavell, Richard A., Pellicer, Angel
Published in Proceedings of the National Academy of Sciences - PNAS (01.06.1986)
Published in Proceedings of the National Academy of Sciences - PNAS (01.06.1986)
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Journal Article
Murine Leukemia Virus Sequences are Encoded in the Murine Major Histocompatibility Complex
Meruelo, Daniel, Kornreich, Ruth, Rossomando, Anthony, Pampeno, Christine, Mellor, Andrew L., Weiss, Elizabeth H., Flavell, Richard A., Pellicer, Angel
Published in Proceedings of the National Academy of Sciences - PNAS (01.03.1984)
Published in Proceedings of the National Academy of Sciences - PNAS (01.03.1984)
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Journal Article
Maple Syrup Urine Disease: Identification and Carrier-Frequency Determination of a Novel Founder Mutation in the Ashkenazi Jewish Population
Edelmann, Lisa, Wasserstein, Melissa P., Kornreich, Ruth, Sansaricq, Claude, Snyderman, Selma E., Diaz, George A.
Published in American journal of human genetics (01.10.2001)
Published in American journal of human genetics (01.10.2001)
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Journal Article
PTPNll analysis for the prenatal diagnosis of Noonan syndrome in fetuses with abnormal ultrasound findings
LEE, K. A, WILLIAMS, B, KORNREICH, R, ROZA, K, FERGUSON, H, DAVID, K, EDDLEMAN, K, STONE, J, EDELMANN, L, RICHARD, G, GELB, B. D
Published in Clinical genetics (2009)
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Published in Clinical genetics (2009)
Journal Article
Premarital and prenatal screening for cystic fibrosis: Experience in the Ashkenazi Jewish population
Kornreich, Ruth, Ekstein, Josef, Edelmann, Lisa, Desnick, Robert J.
Published in Genetics in medicine (01.09.2004)
Published in Genetics in medicine (01.09.2004)
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Journal Article