Resultados de procura - Elizabeth Pugh

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  1. 1
    Statistical analysis of rare sequence variants: an overview of collapsing methods

    Statistical analysis of rare sequence variants: an overview of collapsing methods por Carmen Dering, Claudia Hemmelmann, Elizabeth Pugh, Andreas Ziegler

    Publicado 2011
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  2. 2
    Homozygous deletion in MYL9 expands the molecular basis of megacystis–microcolon–intestinal hypoperistalsis syndrome

    Homozygous deletion in MYL9 expands the molecular basis of megacystis–microcolon–intestinal hypoperistalsis syndrome por Carolina Moreno, Nara Sobreira, Elizabeth Pugh, Peng Zhāng, Gary Steel, Fábio Torres, Denise P. Cavalcanti

    Publicado 2018
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  3. 3
    Homozygosity Mapping Places the Acrodermatitis Enteropathica Gene on Chromosomal Region 8q24.3

    Homozygosity Mapping Places the Acrodermatitis Enteropathica Gene on Chromosomal Region 8q24.3 por Kun Wang, Elizabeth Pugh, Shari Griffen, Kimberly F. Doheny, Wedad Z. Mostafa, MUSTAFA M. AL‐ABOOSI, Hatem El‐Shanti, Jane Gitschier

    Publicado 2001
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  4. 4
    Imputation-Based Genomic Coverage Assessments of Current Human Genotyping Arrays

    Imputation-Based Genomic Coverage Assessments of Current Human Genotyping Arrays por Sarah C. Nelson, Kimberly F. Doheny, Elizabeth Pugh, Jane Romm, Hua Ling, Cecelia Laurie, Sharon R. Browning, Bruce S. Weir, Cathy C. Laurie

    Publicado 2013
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  5. 5
    Assessment of incidental findings in 232 whole-exome sequences from the Baylor–Hopkins Center for Mendelian Genomics

    Assessment of incidental findings in 232 whole-exome sequences from the Baylor–Hopkins Center for Mendelian Genomics por Julie A. Jurgens, Hua Ling, Kurt N. Hetrick, Elizabeth Pugh, François Schiettecatte, Kimberly F. Doheny, Ada Hamosh, Dimitri Avramopoulos, David Valle, Nara Sobreira

    Publicado 2015
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  6. 6
    An Autosomal Recessive Form of Bilateral Frontoparietal Polymicrogyria Maps to Chromosome 16q12.2-21

    An Autosomal Recessive Form of Bilateral Frontoparietal Polymicrogyria Maps to Chromosome 16q12.2-21 por Xianhua Piao, Lina Basel‐Vanagaite, Rachel Straussberg, P. Ellen Grant, Elizabeth Pugh, Kim Doheny, Betty Doan, Susan E. Hong, Yin Yao Shugart, Christopher A. Walsh

    Publicado 2002
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  7. 7
    Genomewide association study for susceptibility genes contributing to familial Parkinson disease

    Genomewide association study for susceptibility genes contributing to familial Parkinson disease por Nathan Pankratz, Jemma B. Wilk, Jeanne C. Latourelle, Anita L. DeStefano, Cheryl Halter, Elizabeth Pugh, Kimberly F. Doheny, James F. Gusella, William C. Nichols, Tatiana Foroud, Richard H. Myers

    Publicado 2008
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  8. 8
    Genome-Wide Association Study of Bone Mineral Density in Premenopausal European-American Women and Replication in African-American Women

    Genome-Wide Association Study of Bone Mineral Density in Premenopausal European-American Women and Replication in African-American Women por Daniel L. Koller, Shoji Ichikawa, Dongbing Lai, Leah R. Padgett, Kimberly F. Doheny, Elizabeth Pugh, Justin Paschall, Siu L. Hui, Howard J. Edenberg, Xiaoling Xuei, Munro Peacock, Michael J. Econs, Tatiana Foroud

    Publicado 2010
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  9. 9
    <i>ZCCHC8</i>, the nuclear exosome targeting component, is mutated in familial pulmonary fibrosis and is required for telomerase RNA maturation

    <i>ZCCHC8</i>, the nuclear exosome targeting component, is mutated in familial pulmonary fibrosis and is required for telomerase RNA maturation por Dustin L. Gable, Valeriya Gaysinskaya, Christine C. Atik, C. Conover Talbot, Byunghak Kang, Susan E. Stanley, Elizabeth Pugh, Nuria Amat-Codina, Kara M. Schenk, Murat O. Arcasoy, Cory Brayton, Liliana Florea, Mary Armanios

    Publicado 2019
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  10. 10
    Genetic Modifiers of Cystic Fibrosis-Related Diabetes Have Extensive Overlap With Type 2 Diabetes and Related Traits

    Genetic Modifiers of Cystic Fibrosis-Related Diabetes Have Extensive Overlap With Type 2 Diabetes and Related Traits por Melis A. Aksit, Rhonda G. Pace, Briana Vecchio-Pagán, Hua Ling, Johanna M. Rommens, Pierre‐Yves Boëlle, Loïc Guillot, Karen S. Raraigh, Elizabeth Pugh, Peng Zhang, Lisa J. Strug, Mitch L Drumm, Michael R Knowles, Garry R. Cutting, Harriet Corvol, Scott M. Blackman

    Publicado 2019
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  11. 11
    Imputation and quality control steps for combining multiple genome-wide datasets

    Imputation and quality control steps for combining multiple genome-wide datasets por Shefali S. Verma, Mariza de Andrade, Gerard Tromp, Helena Kuivaniemi, Elizabeth Pugh, Bahram Namjou‐Khales, Shubhabrata Mukherjee, Gail P. Jarvik, Leah C. Kottyan, Amber Burt, Yuki Bradford, Gretta D. Armstrong, Kimberly Derr, Dana C. Crawford, Jonathan L. Haines, Rongling Li, David R. Crosslin, Marylyn D. Ritchie

    Publicado 2014
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  12. 12
    Common genetic variation in the HLA region is associated with late-onset sporadic Parkinson's disease

    Common genetic variation in the HLA region is associated with late-onset sporadic Parkinson's disease por Taye H. Hamza, Cyrus P. Zabetian, Albert Tenesa, Alain Laederach, Jennifer S. Montimurro, Dora Yearout, Denise M. Kay, Kimberly F. Doheny, Justin Paschall, Elizabeth Pugh, Victoria I. Kusel, Randall V. Collura, John W. Roberts, Alida Griffith, Ali Samii, William K. Scott, John G. Nutt, Stewart A. Factor, Haydeh Payami

    Publicado 2010
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  13. 13
    Genome Scan, Fine-Mapping, and Candidate Gene Analysis of Non-Syndromic Cleft Lip with or without Cleft Palate Reveals Phenotype-Specific Differences in Linkage and Association Results

    Genome Scan, Fine-Mapping, and Candidate Gene Analysis of Non-Syndromic Cleft Lip with or without Cleft Palate Reveals Phenotype-Specific Differences in Linkage and Association Res... por Mary L. Marazita, Andrew C. Lidral, Jeffrey C. Murray, L. Leigh Field, Brion S. Maher, Toby McHenry, Margaret E. Cooper, Manika Govil, Sandra Daack‐Hirsch, Bridget Riley‐Gillis, Astanand Jugessur, Têmis Maria Félix, Lina Morene, M. Adela Mansilla, Alexandre R. Vieira, Kim Doheny, Elizabeth Pugh, Consuelo Valencia-Ramírez, Mauricio Arcos‐Burgos

    Publicado 2009
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  14. 14
    Comprehensive Association Study of Type 2 Diabetes and Related Quantitative Traits With 222 Candidate Genes

    Comprehensive Association Study of Type 2 Diabetes and Related Quantitative Traits With 222 Candidate Genes por Kyle J. Gaulton, Cristen J. Willer, Yun Li, Laura J. Scott, Karen N. Conneely, Anne Jackson, William L. Duren, Peter S. Chines, Narisu Narisu, Lori L. Bonnycastle, Jingchun Luo, Maurine Tong, Andrew G. Sprau, Elizabeth Pugh, Kimberly F. Doheny, Timo T. Valle, Gonçalo R. Abecasis, Jaakko Tuomilehto, Richard N. Bergman, Francis S. Collins, Michael Boehnke, Karen L. Mohlke

    Publicado 2008
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  15. 15
    Genome partitioning of genetic variation for complex traits using common SNPs

    Genome partitioning of genetic variation for complex traits using common SNPs por Jian Yang, Teri A. Manolio, Louis R. Pasquale, Eric Boerwinkle, Neil E. Caporaso, Julie M. Cunningham, Mariza de Andrade, Bjarke Feenstra, Eleanor Feingold, M. Geoffrey Hayes, William G. Hill, Maria Teresa Landi, Álvaro Alonso, Guillaume Lettre, Pinpin Lin, Hua Ling, William L. Lowe, Rasika A. Mathias, Mads Melbye, Elizabeth Pugh, Marilyn C. Cornelis, Bruce S. Weir, Michael E. Goddard, Peter M. Visscher

    Publicado 2011
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  16. 16
    Whole-Exome Sequencing in Familial Parkinson Disease

    Whole-Exome Sequencing in Familial Parkinson Disease por Janice L. Farlow, Laurie Robak, Kurt N. Hetrick, Kevin M. Bowling, Eric Boerwinkle, Zeynep Coban‐Akdemir, Tomasz Gambin, Richard A. Gibbs, Shen Gu, Preti Jain, Joseph Jankovic, Shalini N. Jhangiani, Kaveeta Kaw, Dongbing Lai, Hai Lin, Hua Ling, Yunlong Liu, James R. Lupski, Donna M. Muzny, Paula Porter, Elizabeth Pugh, Janson J. White, Kimberly F. Doheny, R Myers, Joshua Shulman, Tatiana Foroud

    Publicado 2015
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  17. 17
    Genetic variants associated with the white blood cell count in 13,923 subjects in the eMERGE Network

    Genetic variants associated with the white blood cell count in 13,923 subjects in the eMERGE Network por David R. Crosslin, Andrew McDavid, Noah Weston, Sarah C. Nelson, Xiuwen Zheng, Eugene Hart, Mariza de Andrade, Iftikhar J. Kullo, Catherine A. McCarty, Kimberly F. Doheny, Elizabeth Pugh, Abel Kho, M. Geoffrey Hayes, S. Pretel, Alexander Saip, Marylyn D. Ritchie, Dana C. Crawford, Paul K. Crane, Katherine M. Newton, Rongling Li, Daniel B. Mirel, Andrew Crenshaw, Eric B. Larson, Chris Carlson, Gail P. Jarvik

    Publicado 2011
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  18. 18
    Quality control and quality assurance in genotypic data for genome‐wide association studies

    Quality control and quality assurance in genotypic data for genome‐wide association studies por Cathy C. Laurie, Kimberly F. Doheny, Daniel B. Mirel, Elizabeth Pugh, Laura J. Bierut, Tushar Bhangale, Frederick J. Boehm, Neil E. Caporaso, Marilyn C. Cornelis, Howard J. Edenberg, Stacy Gabriel, Emily Harris, Frank B. Hu, Kevin B. Jacobs, Peter Kraft, Maria Teresa Landi, Thomas Lumley, Teri A. Manolio, Caitlin McHugh, Ian Painter, Justin Paschall, John P. Rice, Kenneth Rice, Xiuwen Zheng, Bruce S. Weir

    Publicado 2010
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  19. 19
    Genome-wide association Scan of dental caries in the permanent dentition

    Genome-wide association Scan of dental caries in the permanent dentition por Xiaojing Wang, John R. Shaffer, Zhen Zeng, Ferdouse Begum, Alexandre R. Vieira, Jacqueline Noel, Ida Anjomshoaa, Karen T. Cuenco, Myoung-Keun Lee, James D. Beck, Eric Boerwinkle, Marilyn C. Cornelis, Frank B. Hu, David R. Crosslin, Cathy C. Laurie, Sarah C. Nelson, Kimberly F. Doheny, Elizabeth Pugh, Deborah E. Polk, Robert J. Weyant, Richard J. Crout, Daniel W. McNeil, Daniel E. Weeks, Eleanor Feingold, Mary L. Marazita

    Publicado 2012
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  20. 20
    Description of the data from the Collaborative Study on the Genetics of Alcoholism (COGA) and single-nucleotide polymorphism genotyping for Genetic Analysis Workshop 14

    Description of the data from the Collaborative Study on the Genetics of Alcoholism (COGA) and single-nucleotide polymorphism genotyping for Genetic Analysis Workshop 14 por Howard J. Edenberg, Laura J. Bierut, Paul Boyce, Manqiu Cao, Simon Cawley, Richard Chiles, Kimberly F. Doheny, Thomas Hansen, Tony Hinrichs, Kevin Jones, Mark Kelleher, Giulia C. Kennedy, Guoying Liu, Gregory A. Marcus, Celeste McBride, Sarah Murray, Arnold Oliphant, James Pettengill, Bernice Porjesz, Elizabeth Pugh, John P. Rice, Todd Rubano, Stu Shannon, Rhoberta Steeke, Jay A. Tischfield, Ya Yu Tsai, Chun Zhang, Henri Begleiter

    Publicado 2005
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