检索结果 - 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 由 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

    出版 2024
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    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 由 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

    出版 2015
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  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 由 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

    出版 2019
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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 由 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

    出版 2015
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    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 由 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

    出版 2014
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  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 由 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

    出版 2015
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  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 由 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

    出版 2022
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    Revisão
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  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 由 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

    出版 2022
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