Search Results - "Risch, Neil J."

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    Searching for genetic determinants in the new millennium by Risch, Neil J

    Published in Nature (London) (15-06-2000)
    “…Human genetics is now at a critical juncture. The molecular methods used successfully to identify the genes underlying rare mendelian syndromes are failing to…”
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    Structured mating: Patterns and implications by Sebro, Ronnie, Peloso, Gina M, Dupuis, Josée, Risch, Neil J

    Published in PLoS genetics (06-04-2017)
    “…Genetic similarity of spouses can reflect factors influencing mate choice, such as physical/behavioral characteristics, and patterns of social endogamy. Spouse…”
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    Estimation of individual admixture: Analytical and study design considerations by Tang, Hua, Peng, Jie, Wang, Pei, Risch, Neil J.

    Published in Genetic epidemiology (01-05-2005)
    “…The genome of an admixed individual represents a mixture of alleles from different ancestries. In the United States, the two largest minority groups,…”
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    Recent Genetic Selection in the Ancestral Admixture of Puerto Ricans by Tang, Hua, Choudhry, Shweta, Mei, Rui, Morgan, Martin, Rodriguez-Cintron, William, Burchard, Esteban González, Risch, Neil J.

    Published in American journal of human genetics (01-09-2007)
    “…Recent studies have used dense markers to examine the human genome in ancestrally homogeneous populations for hallmarks of selection. No genomewide studies…”
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    Candidate-gene approaches for studying complex genetic traits: practical considerations by Myers, Richard M, Tabor, Holly K, Risch, Neil J

    Published in Nature reviews. Genetics (01-05-2002)
    “…Association studies with candidate genes have been widely used for the study of complex diseases. However, this approach has been criticized because of…”
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    Intragenic Cis and Trans Modification of Genetic Susceptibility in DYT1 Torsion Dystonia by Risch, Neil J., Bressman, Susan B., Senthil, Geetha, Ozelius, Laurie J.

    Published in American journal of human genetics (01-06-2007)
    “…A GAG deletion in the DYT1 gene is a major cause of early-onset dystonia, but clinical disease expression occurs in only 30% of mutation carriers. To gain…”
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  8. 8

    Genetic Structure, Self-Identified Race/Ethnicity, and Confounding in Case-Control Association Studies by Tang, Hua, Quertermous, Tom, Rodriguez, Beatriz, Kardia, Sharon L.R., Zhu, Xiaofeng, Brown, Andrew, Pankow, James S., Province, Michael A., Hunt, Steven C., Boerwinkle, Eric, Schork, Nicholas J., Risch, Neil J.

    Published in American journal of human genetics (01-02-2005)
    “…We have analyzed genetic data for 326 microsatellite markers that were typed uniformly in a large multiethnic population-based sample of individuals as part of…”
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    The early-onset torsion dystonia gene ( DYT1 ) encodes an ATP-binding protein by Ozelius, Laurie J, Hewett, Jeffrey W, Page, Curtis E, Bressman, Susan B, Kramer, Patricia L, Shalish, Christo, de Leon, Deborah, Brin, Mitchell F, Raymond, Deborah, Corey, David P, Fahn, Stanley, Risch, Neil J, Buckler, Alan J, Gusella, James F, Breakefield, Xandra O

    Published in Nature genetics (01-09-1997)
    “…Early-onset torsion dystonia is a movement disorder, characterized by twisting muscle contractures, that begins in childhood. Symptoms are believed to result…”
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    Challenges in providing residual risks in carrier testing by Nussbaum, Robert Luke, Slotnick, Robert Nathan, Risch, Neil J.

    Published in Prenatal diagnosis (01-08-2021)
    “…The probability an individual is a carrier for a recessive disorder despite a negative carrier test, referred to as residual risk, has been part of carrier…”
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    Tree-Structured Supervised Learning and the Genetics of Hypertension by Huang, Jing, Lin, Alfred, Narasimhan, Balasubramanian, Quertermous, Thomas, Hsiung, C. Agnes, Ho, Low-Tone, Grove, John S., Olivier, Michael, Ranade, Koustubh, Risch, Neil J., Olshen, Richard A., Singer, Burton H.

    “…This paper is about an algorithm, FlexTree, for general supervised learning. It extends the binary tree-structured approach (Classification and Regression…”
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    A genome-wide scan in forty large pedigrees with multiple sclerosis by Willer, Cristen J, Dyment, David A, Cherny, Stacey, Ramagopalan, Sreeram V, Herrera, Blanca M, Morrison, Katie M E, Sadovnick, A Dessa, Risch, Neil J, Ebers, George C

    Published in Journal of human genetics (01-12-2007)
    “…The epidemiology of multiple sclerosis suggests that a complex interaction of genes and environment contribute to susceptibility. To enrich for families with…”
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  14. 14

    Testing for non-random mating: evidence for ancestry-related assortative mating in the Framingham heart study by Sebro, Ronnie, Hoffman, Thomas J., Lange, Christoph, Rogus, John J., Risch, Neil J.

    Published in Genetic epidemiology (01-11-2010)
    “…Population stratification leads to a predictable phenomenon—a reduction in the number of heterozygotes compared to that calculated assuming Hardy‐Weinberg…”
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    Genome-wide screen for asthma in Puerto Ricans: evidence for association with 5q23 region by Choudhry, Shweta, Taub, Margaret, Mei, Rui, Rodriguez-Santana, José, Rodriguez-Cintron, William, Shriver, Mark D., Ziv, Elad, Risch, Neil J., Burchard, Esteban González

    Published in Human genetics (01-06-2008)
    “…While the number of success stories for mapping genes associated with complex diseases using genome-wide association approaches is growing, there is still much…”
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    On the Probability of Matching DNA Fingerprints by Risch, Neil J., Devlin, B.

    “…Forensic scientists commonly assume that DNA fingerprint patterns are infrequent in the general population and that genotypes are independent across loci. To…”
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    Admixture mapping of quantitative trait loci for blood lipids in African-Americans by Basu, Analabha, Tang, Hua, Lewis, Cora E., North, Kari, Curb, J. David, Quertermous, Thomas, Mosley, Thomas H., Boerwinkle, Eric, Zhu, Xiaofeng, Risch, Neil J.

    Published in Human molecular genetics (01-06-2009)
    “…Blood lipid levels, including low-density lipoprotein cholesterol (LDL-C), high-density lipoprotein cholesterol (HDL-C) and triglycerides (TG), are highly…”
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