תוצאות חיפוש - Justin Paschall

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  1. 1
    Assessing and managing risk when sharing aggregate genetic variant data

    Assessing and managing risk when sharing aggregate genetic variant data מאת David W. Craig, Robert M. Goor, Zhenyuan Wang, Justin Paschall, Jim Ostell, Michael Feolo, Stephen T. Sherry, Teri A. Manolio

    יצא לאור 2011
    קבל טקסט מלא
    Revisão
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  2. 2
    Genotype first: Clinical genomics research through a reverse phenotyping approach

    Genotype first: Clinical genomics research through a reverse phenotyping approach מאת Caralynn M. Wilczewski, Justice Obasohan, Justin Paschall, Suiyuan Zhang, Sumeeta Singh, George L. Maxwell, Morgan Similuk, Tyra G. Wolfsberg, Clesson Turner, Leslie G. Biesecker, Alexander Katz

    יצא לאור 2023
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    Revisão
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  3. 3
    dbVar and DGVa: public archives for genomic structural variation

    dbVar and DGVa: public archives for genomic structural variation מאת Ilkka Lappalainen, John Lopez, Lisa Skipper, Timothy Hefferon, Dylan Spalding, John Garner, Chao Chen, Michael E. Maguire, Matt Corbett, George Zhou, Justin Paschall, Victor Ananiev, Paul Flicek, Deanna M. Church

    יצא לאור 2012
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    Artigo
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  4. 4
    Public data archives for genomic structural variation

    Public data archives for genomic structural variation מאת Deanna M. Church, Ilkka Lappalainen, Tam P. Sneddon, Jonathan Hinton, Michael E. Maguire, John Lopez, John Garner, Justin Paschall, Michael DiCuccio, Y Eugene, Stephen W. Scherer, Lars Feuk, Paul Flicek

    יצא לאור 2010
    קבל טקסט מלא
    Carta
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  5. 5
    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 מאת 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

    יצא לאור 2010
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    Artigo
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  6. 6
    RD-Connect: An Integrated Platform Connecting Databases, Registries, Biobanks and Clinical Bioinformatics for Rare Disease Research

    RD-Connect: An Integrated Platform Connecting Databases, Registries, Biobanks and Clinical Bioinformatics for Rare Disease Research מאת Rachel Thompson, Louise Johnston, Domenica Taruscio, Lucía Monaco, Christophe Béroud, Marta Gut, Mats Hansson, Peter-Bram Ac 't Hoen, George P. Patrinos, Hugh Dawkins, Monica Ensini, Kurt Zatloukal, David Koubi, Emma Heslop, Justin Paschall, Manuel Posada de la Paz, Peter N. Robinson, Kate Bushby, Hanns Lochmüller

    יצא לאור 2014
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    Revisão
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  7. 7
    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 מאת 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

    יצא לאור 2010
    קבל טקסט מלא
    Artigo
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  8. 8
    The NCBI dbGaP database of genotypes and phenotypes

    The NCBI dbGaP database of genotypes and phenotypes מאת Matthew Mailman, Michael Feolo, Yumi Jin, Masato Kimura, K. A. Tryka, Rinat Bagoutdinov, Luning Hao, Anne Kiang, Justin Paschall, Lon Phan, Н. В. Попова, S. Pretel, Lora Ziyabari, Moira Lee, Yu Shao, Zhen Y Wang, Karl Sirotkin, Minghong Ward, Michael Kholodov, Kerry Zbicz, Jeffrey Beck, Michael Kimelman, С Л Шевелев, Don Preuss, Y Eugene, Alan S. Graeff, James Ostell, Stephen T. Sherry

    יצא לאור 2007
    קבל טקסט מלא
    Artigo
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  9. 9
    The European Genome-phenome Archive of human data consented for biomedical research

    The European Genome-phenome Archive of human data consented for biomedical research מאת Ilkka Lappalainen, J. P. Almeida, Vasudev Kumanduri, Alexander Senf, Dylan Spalding, Saif Ur-Rehman, Gary Saunders, Jag Kandasamy, Mario Cáccamo, Rasko Leinonen, Brendan Vaughan, Thomas Laurent, Francis Rowland, Pablo Marín-García, Juliet N. Barker, Petteri Jokinen, Angel Carreño Torres, Jordi Rambla, Oscar Martinez Llobet, Ignacio Medina, Marc Sitges Puy, Mario Alberich, Sabela de la Torre, Arcadi Navarro, Justin Paschall, Paul Flicek

    יצא לאור 2015
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    Artigo
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  10. 10
    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 מאת 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

    יצא לאור 2010
    קבל טקסט מלא
    Artigo
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  11. 11
    Quality Control Procedures for Genome‐Wide Association Studies

    Quality Control Procedures for Genome‐Wide Association Studies מאת Stephen Turner, Loren L. Armstrong, Yuki Bradford, Christopher S. Carlson, Dana C. Crawford, Andrew Crenshaw, Mariza de Andrade, Kimberly F. Doheny, Jonathan L. Haines, Geoffrey Hayes, Gail P. Jarvik, Lan Jiang, Iftikhar J. Kullo, Rongling Li, Hua Ling, Teri A. Manolio, Martha Matsumoto, Catherine A. McCarty, Andrew McDavid, Daniel B. Mirel, Justin Paschall, Elizabeth Pugh, Luke V. Rasmussen, Russell A. Wilke, Rebecca L. Zuvich, Marylyn D. Ritchie

    יצא לאור 2011
    קבל טקסט מלא
    Artigo
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  12. 12
    Pitfalls of merging GWAS data: lessons learned in the eMERGE network and quality control procedures to maintain high data quality

    Pitfalls of merging GWAS data: lessons learned in the eMERGE network and quality control procedures to maintain high data quality מאת Rebecca L. Zuvich, Loren L. Armstrong, Suzette J. Bielinski, Yuki Bradford, Christopher S. Carlson, Dana C. Crawford, Andrew Crenshaw, Mariza de Andrade, Kimberly F. Doheny, Jonathan L. Haines, M. Geoffrey Hayes, Gail P. Jarvik, Lan Jiang, Iftikhar J. Kullo, Rongling Li, Hua Ling, Teri A. Manolio, Martha Matsumoto, Catherine A. McCarty, Andrew McDavid, Daniel B. Mirel, Lana M. Olson, Justin Paschall, Elizabeth Pugh, Luke V. Rasmussen, Laura J. Rasmussen‐Torvik, Stephen Turner, Russell A. Wilke, Marylyn D. Ritchie

    יצא לאור 2011
    קבל טקסט מלא
    Artigo
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  13. 13
    Discovering and linking public omics data sets using the Omics Discovery Index

    Discovering and linking public omics data sets using the Omics Discovery Index מאת Yasset Pérez‐Riverol, Mingze Bai, Felipe da Veiga Leprevost, Silvano Squizzato, Young Mi Park, Kenneth Haug, Adam J. Carroll, Dylan Spalding, Justin Paschall, Mingxun Wang, Noemí del‐Toro, Tobias Ternent, Peng Zhang, Nicola Buso, Nuno Bandeira, Eric W. Deutsch, David Campbell, Ronald C. Beavis, Reza M. Salek, Uğis Sarkans, Robert Petryszak, Maria Keays, Eoin Fahy, Manish Sud, Shankar Subramaniam, Ariana Barberá, Rafael C. Jiménez, Alexey I. Nesvizhskii, Susanna‐Assunta Sansone, Christoph Steinbeck, Rodrigo López, Juan Antonio Vizcaíno, Peipei Ping, Henning Hermjakob

    יצא לאור 2017
    קבל טקסט מלא
    Carta
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  14. 14
    The gene, environment association studies consortium (GENEVA): maximizing the knowledge obtained from GWAS by collaboration across studies of multiple conditions

    The gene, environment association studies consortium (GENEVA): maximizing the knowledge obtained from GWAS by collaboration across studies of multiple conditions מאת Marilyn C. Cornelis, Arpana Agrawal, John W. Cole, Nadia N. Hansel, Kathleen C. Barnes, Terri H. Beaty, Siiri Bennett, Laura J. Bierut, Eric Boerwinkle, Kimberly F. Doheny, Bjarke Feenstra, Eleanor Feingold, Myriam Fornage, Christopher A. Haiman, Emily Harris, M. Geoffrey Hayes, John A. Heit, Frank B. Hu, Jae H. Kang, Cathy C. Laurie, Hua Ling, Teri A. Manolio, Mary L. Marazita, Rasika A. Mathias, Daniel B. Mirel, Justin Paschall, Louis R. Pasquale, Elizabeth Pugh, John P. Rice, Jenna Udren, Rob M. van Dam, Xiaojing Wang, Janey L. Wiggs, Kayleen Williams, Kai Yu

    יצא לאור 2010
    קבל טקסט מלא
    Artigo
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  15. 15
    An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities

    An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities מאת Erin B. Kaminsky, Vineith Kaul, Justin Paschall, Deanna M. Church, Brian Bunke, Dawn Kunig, Daniel Moreno‐De‐Luca, Andrés Moreno-De-Luca, Jennifer G. Mullé, Stephen T. Warren, Gabriele Richard, John G. Compton, Amy E Fuller, Troy J. Gliem, Shuwen Huang, Morag N. Collinson, Sarah J. Beal, Todd Ackley, Diane L. Pickering, Denae M. Golden, Emily Aston, Heidi Whitby, Shashirekha Shetty, Michael R. Rossi, M. Katharine Rudd, Sarah T. South, Arthur R. Brothman, Warren G. Sanger, Ramaswamy K. Iyer, John A. Crolla, Erik C. Thorland, Swaroop Aradhya, David H. Ledbetter, Alastair J. Martin

    יצא לאור 2011
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    Artigo
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  16. 16
    Genome-wide association study of bipolar disorder in European American and African American individuals

    Genome-wide association study of bipolar disorder in European American and African American individuals מאת Erin N. Smith, Cinnamon S. Bloss, Judith A. Badner, Thomas B. Barrett, Pamela L. Belmonte, Wade H. Berrettini, William Byerley, William Coryell, David W. Craig, Howard J. Edenberg, Eleazar Eskin, Tatiana Foroud, Elliot S. Gershon, Tiffany A. Greenwood, Maria Hipolito, Daphne Koller, William Lawson, Chunyu Liu, Falk W. Lohoff, Melvin G. McInnis, Francis J. McMahon, Daniel B. Mirel, Sarah S. Murray, Caroline M. Nievergelt, John I. Nürnberger, Evaristus Nwulia, Justin Paschall, James B. Potash, John P. Rice, Thomas G. Schulze, William A. Scheftner, Corrie B. Panganiban, Noah Zaitlen, Peter P. Zandi, Sebastian Zöllner, Nicholas J. Schork, John R. Kelsoe

    יצא לאור 2009
    קבל טקסט מלא
    Artigo
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  17. 17
    The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery

    The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery מאת Anthony Philippakis, Danielle R. Azzariti, Sergi Beltrán, Anthony J. Brookes, Catherine A. Brownstein, Michael Brudno, Han G. Brunner, Orion J. Buske, Knox Carey, Cassie Doll, Sergiu Dumitriu, Stephanie O. M. Dyke, Johan T. den Dunnen, Helen V. Firth, Richard A. Gibbs, Marta Gîrdea, Michael Gonzalez, Melissa Haendel, Ada Hamosh, Ingrid A. Holm, Lijia Huang, Matthew E. Hurles, Ben Hutton, Joel B. Krier, Andriy Misyura, Chris Mungall, Justin Paschall, Benedict Paten, Peter N. Robinson, François Schiettecatte, Nara Sobreira, G. Jawahar Swaminathan, Peter E.M. Taschner, Sharon F. Terry, Nicole L. Washington, Stephan Züchner, Kym M. Boycott, Heidi L. Rehm

    יצא לאור 2015
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    Artigo
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  18. 18
    International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases

    International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases מאת Kym M. Boycott, Ana Rath, Jessica X. Chong, Taila Hartley, Fowzan S. Alkuraya, Gareth Baynam, Anthony J. Brookes, Michael Brudno, Ángel Carracedo, Johan T. den Dunnen, Stephanie O. M. Dyke, Xavier Estivill, Jack Goldblatt, Catherine Gonthier, Stephen C. Groft, Marta Gut, Ada Hamosh, Philip Hieter, Sophie Höhn, Matthew E. Hurles, Petra Kaufmann, Bartha Maria Knoppers, Jeffrey P. Krischer, Milan Maçek, Gert Matthijs, Annie Olry, Samantha Parker, Justin Paschall, Anthony Philippakis, Heidi L. Rehm, Peter N. Robinson, Pak C. Sham, Румен Стефанов, Domenica Taruscio, Divya Unni, Megan R. Vanstone, Feng Zhang, Han G. Brunner, Michael J. Bamshad, Hanns Lochmüller

    יצא לאור 2017
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    Artigo
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  19. 19
    Common genetic susceptibility loci link PFAPA syndrome, Behçet’s disease, and recurrent aphthous stomatitis

    Common genetic susceptibility loci link PFAPA syndrome, Behçet’s disease, and recurrent aphthous stomatitis מאת Kalpana Manthiram, Silvia Preite, Fatma Dedeoğlu, Selcan Demir, Seza Özen, Kathryn M. Edwards, Sivia Lapidus, Alexander Katz, Henry M. Feder, Maranda Lawton, Greg R. Licameli, Peter F. Wright, Julie Le, Karyl S. Barron, Amanda K. Ombrello, Beverly Barham, Tina Romeo, Anne Jones, Hemalatha Srinivasalu, Pamela Mudd, Roberta L. DeBiasi, Ahmet Gül, Gary S. Marshall, Olcay Y. Jones, Settara C. Chandrasekharappa, Yuriy Stepanovskiy, Polly J. Ferguson, Pamela L. Schwartzberg, Elaine F. Remmers, Daniel L. Kastner, David P. Ascher, Leslie G. Biesecker, Priscilla Chan, Thomas P. Conrads, Jennifer J. Johnston, Alexander Katz, Katie L. Lewis, G. Larry Maxwell, Justin Paschall, Henoke Shiferaw, Tyra G. Wolfsberg, Wendy S.W. Wong, Suiyuan Zhang

    יצא לאור 2020
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    Artigo
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  20. 20
    Open Targets: a platform for therapeutic target identification and validation

    Open Targets: a platform for therapeutic target identification and validation מאת Gautier Koscielny, Peter An, Denise Carvalho‐Silva, Jennifer A. Cham, Luca Fumis, Rippa Gasparyan, Samiul Hasan, Nikiforos Karamanis, Michael E. Maguire, Eliseo Papa, Andrea Pierleoni, Miguel Pignatelli, Theo Platt, Francis Rowland, Priyanka Wankar, A. Patrícia Bento, Tony Burdett, Antonio Fabregat, Simon Forbes, Anna Gaulton, Cristina González, Henning Hermjakob, Anne Hersey, S Jupe, Şenay Kafkas, Maria Keays, Catherine Leroy, Francisco-Javier Lopez, María Paula Magariños, James Malone, Johanna McEntyre, Alfonso Muñoz-Pomer Fuentes, Claire O’Donovan, Irene Papatheodorou, Helen Parkinson, Barbara P. Palka, Justin Paschall, Robert Petryszak, Ploy N. Pratanwanich, Sirarat Sarntivijal, Gary Saunders, Konstantinos Sidiropoulos, Thomas B. Smith, Zbysław Sońdka, Oliver Stegle, Amy Tang, E. B. Turner, Brendan Vaughan, Olga Vrousgou, Xavier Watkins, María Martin, Philippe Sanséau, Jessica Vamathevan, Ewan Birney, Jeffrey C. Barrett, Ian Dunham

    יצא לאור 2016
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    Artigo
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