תוצאות חיפוש - William P. Bone

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  1. 1
    High-resolution genome-wide mapping of chromosome-arm-scale truncations induced by CRISPR–Cas9 editing

    High-resolution genome-wide mapping of chromosome-arm-scale truncations induced by CRISPR–Cas9 editing מאת Nathan H. Lazar, Safiye Çelik, Lu Chen, Marta M. Fay, Jonathan Irish, James Jensen, Conor A. Tillinghast, John Urbanik, William P. Bone, Christopher C. Gibson, Imran S. Haque

    יצא לאור 2024
    קבל טקסט מלא קבל טקסט מלא
    Artigo
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  2. 2
    Next-generation diagnostics and disease-gene discovery with the Exomiser

    Next-generation diagnostics and disease-gene discovery with the Exomiser מאת Damian Smedley, Julius O.B. Jacobsen, Marten Jäger, Sebastian Köhler, Manuel Holtgrewe, Max Schubach, Enrico Siragusa, Tomasz Żemojtel, Orion J. Buske, Nicole L. Washington, William P. Bone, Melissa Haendel, Peter N. Robinson

    יצא לאור 2015
    קבל טקסט מלא
    Artigo
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    שמור ב:
  3. 3
    Natural human genetic variation determines basal and inducible expression of <i>PM20D1</i> , an obesity-associated gene

    Natural human genetic variation determines basal and inducible expression of <i>PM20D1</i> , an obesity-associated gene מאת Kiara K. Benson, Wenxiang Hu, Angela H. Weller, Alexis H. Bennett, Eric R. Chen, Sumeet A. Khetarpal, Satoshi Yoshino, William P. Bone, Lin Wang, Joshua D. Rabinowitz, Benjamin F. Voight, Raymond E. Soccio

    יצא לאור 2019
    קבל טקסט מלא קבל טקסט מלא
    Artigo
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  4. 4
    PhenomeCentral: A Portal for Phenotypic and Genotypic Matchmaking of Patients with Rare Genetic Diseases

    PhenomeCentral: A Portal for Phenotypic and Genotypic Matchmaking of Patients with Rare Genetic Diseases מאת Orion J. Buske, Marta Gîrdea, Sergiu Dumitriu, Bailey Gallinger, Taila Hartley, Heather Trang, Andriy Misyura, Tal Friedman, Chandree L. Beaulieu, William P. Bone, Amanda E. Links, Nicole L. Washington, Melissa Haendel, Peter N. Robinson, Cornelius F. Boerkoel, David R. Adams, William A. Gahl, Kym M. Boycott, Michael Brudno

    יצא לאור 2015
    קבל טקסט מלא קבל טקסט מלא
    Artigo
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  5. 5
    York platelet syndrome is a CRAC channelopathy due to gain-of-function mutations in STIM1

    York platelet syndrome is a CRAC channelopathy due to gain-of-function mutations in STIM1 מאת Thomas C. Markello, Dong Chen, Justin Kwan, Iren Horkayne‐Szakaly, Alan Morrison, Olga Šimáková, Irina Marić, Jay N. Lozier, Andrew R. Cullinane, Tatjana Kilo, Lynn Meister, Kourosh Pakzad, William P. Bone, Sanjay Chainani, Elizabeth Lee, Amanda E. Links, Cornelius F. Boerkoel, Roxanne Fischer, Camilo Toro, James G. White, William A. Gahl, Meral Gunay‐Aygun

    יצא לאור 2014
    קבל טקסט מלא
    Artigo
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    שמור ב:
  6. 6
    Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency

    Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency מאת William P. Bone, Nicole L. Washington, Orion J. Buske, David R. Adams, Joie Davis, David D. Draper, Elise D. Flynn, Marta Gîrdea, Rena A. Godfrey, Gretchen Golas, Catherine Groden, Julius O.B. Jacobsen, Sebastian Köhler, Elizabeth M.J. Lee, Amanda E. Links, Thomas C. Markello, Chris Mungall, Michele Nehrebecky, Peter N. Robinson, Murat Sincan, Ariane Soldatos, Cynthia J. Tifft, Camilo Toro, Heather Trang, Elise Valkanas, Nicole Vasilevsky, Colleen E. Wahl, Lynne A. Wolfe, Cornelius F. Boerkoel, Michael Brudno, Melissa Haendel, William A. Gahl, Damian Smedley

    יצא לאור 2015
    קבל טקסט מלא קבל טקסט מלא
    Artigo
    הוספה למועדפים
    שמור ב:
  7. 7
    Genome-wide association and multi-trait analyses characterize the common genetic architecture of heart failure

    Genome-wide association and multi-trait analyses characterize the common genetic architecture of heart failure מאת Michael G. Levin, Noah L. Tsao, Pankhuri Singhal, Chang Liu, Ha My T. Vy, Ishan Paranjpe, Joshua Backman, Tiffany R. Bellomo, William P. Bone, Kiran J. Biddinger, Qin Hui, Ozan Dikilitas, Benjamin A. Satterfield, Yifan Yang, Michael P. Morley, Yuki Bradford, Megan F. Burke, Nosheen Reza, Brian Charest, Renae Judy, Megan J. Puckelwartz, Hákon Hákonarson, Atlas Khan, Leah C. Kottyan, Iftikhar J. Kullo, Yuan Luo, Elizabeth M. McNally, Laura J. Rasmussen‐Torvik, Sharlene M. Day, Ron Do, Lawrence S. Phillips, Patrick T. Ellinor, Girish N. Nadkarni, Marylyn D. Ritchie, Zoltàn Arany, Thomas P. Cappola, Kenneth B. Margulies, Krishna G. Aragam, Christopher M. Haggerty, Jacob Joseph, Yan V. Sun, Benjamin F. Voight, Scott M. Damrauer

    יצא לאור 2022
    קבל טקסט מלא קבל טקסט מלא
    Revisão
    הוספה למועדפים
    שמור ב:
  8. 8
    Multi‐phenotype analyses of hemostatic traits with cardiovascular events reveal novel genetic associations

    Multi‐phenotype analyses of hemostatic traits with cardiovascular events reveal novel genetic associations מאת Gerard Temprano‐Sagrera, Colleen M. Sitlani, William P. Bone, Miguel Martín‐Bórnez, Benjamin F. Voight, Alanna C. Morrison, Scott M. Damrauer, Paul S. de Vries, Nicholas L. Smith, Maria Sabater‐Lleal, Abbas Dehghan, Adam S. Heath, Alanna C. Morrison, Alex P. Reiner, Andrew D. Johnson, Anne Richmond, Annette Peters, Astrid van Hylckama Vlieg, Barbara McKnight, Bruce M. Psaty, Caroline Hayward, Cavin Ward‐Caviness, Christopher J. O’Donnell, Daniel I. Chasman, David P. Strachan, David‐Alexandre Trégouët, Dennis O. Mook‐Kanamori, Dipender Gill, Florian Thibord, Folkert W. Asselbergs, Frank W.G. Leebeek, Frits R. Rosendaal, Gail Davies, Georg Homuth, Gerard Temprano, Harry Campbell, Herman A. Taylor, Jan Bressler, Jennifer E. Huffman, Jerome I. Rotter, Jie Yao, James F. Wilson, Joshua C. Bis, Julie Hahn, Karl C. Desch, Kerri L. Wiggins, Laura M. Raffield, Lawrence F. Bielak, Lisa R. Yanek, Marcus E. Kleber, Maria Sabater‐Lleal, Martina Mueller, Maryam Kavousi, Massimo Mangino, Melissa Liu, Michael R. Brown, Matthew P. Conomos, Min‐A Jhun, Ming‐Huei Chen, Moniek P.M. de Maat, Nathan Pankratz, Nicholas L. Smith, Patricia A. Peyser, Paul Elliot, Paul S. de Vries, Peng Wei, Philipp S. Wild, Pierre‐Emmanuel Morange, Pim van der Harst, Qiong Yang, Ngoc‐Quynh Le, Riccardo E. Marioni, Rui‐Fang Li, Scott M. Damrauer, Simon R. Cox, Stella Trompet, Stephan B. Felix, Uwe Völker, Weihong Tang, Wolfgang Köenig, J. Wouter Jukema, Xiuqing Guo, Sara Lindström, Lu Wang, Erin N. Smith, William Gordon, Astrid van Hylckama Vlieg, Mariza de Andrade, Jennifer A. Brody, Jack Pattee, Jeffrey Haessler, Ben Brumpton, Daniel I. Chasman, Pierre Suchon, Ming‐Huei Chen, Constance Turman, Marine Germain, Kerri L. Wiggins, James W. MacDonald, Sigrid K. Brækkan

    יצא לאור 2022
    קבל טקסט מלא קבל טקסט מלא
    Artigo
    הוספה למועדפים
    שמור ב:

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