Hasil Pencarian - Daniel G MacArthur

Perbaiki Hasil
  1. 1
    ClinVar data parsing [version 1; referees: 2 approved]

    ClinVar data parsing [version 1; referees: 2 approved] oleh Xiaolei Zhang, Eric V. Minikel, Anne H. O'Donnell-Luria, Daniel G. MacArthur, James S. Ware, Ben Weisburd

    Diterbitkan 2017-05-01
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  2. 2
    UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) binds to alpha-actinin 1: novel pathways in skeletal muscle?

    UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) binds to alpha-actinin 1: novel pathways in skeletal muscle? oleh Shira Amsili, Hagit Zer, Stephan Hinderlich, Sabine Krause, Michal Becker-Cohen, Daniel G MacArthur, Kathryn N North, Stella Mitrani-Rosenbaum

    Diterbitkan 2008-01-01
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  3. 3
    Quantifying unobserved protein-coding variants in human populations provides a roadmap for large-scale sequencing projects

    Quantifying unobserved protein-coding variants in human populations provides a roadmap for large-scale sequencing projects oleh James Zou, Gregory Valiant, Paul Valiant, Konrad Karczewski, Siu On Chan, Kaitlin Samocha, Monkol Lek, Shamil Sunyaev, Mark Daly, Daniel G. MacArthur

    Diterbitkan 2016-10-01
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  4. 4
    Using ALoFT to determine the impact of putative loss-of-function variants in protein-coding genes

    Using ALoFT to determine the impact of putative loss-of-function variants in protein-coding genes oleh Suganthi Balasubramanian, Yao Fu, Mayur Pawashe, Patrick McGillivray, Mike Jin, Jeremy Liu, Konrad J. Karczewski, Daniel G. MacArthur, Mark Gerstein

    Diterbitkan 2017-08-01
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  5. 5
    STRetch: detecting and discovering pathogenic short tandem repeat expansions

    STRetch: detecting and discovering pathogenic short tandem repeat expansions oleh Harriet Dashnow, Monkol Lek, Belinda Phipson, Andreas Halman, Simon Sadedin, Andrew Lonsdale, Mark Davis, Phillipa Lamont, Joshua S. Clayton, Nigel G. Laing, Daniel G. MacArthur, Alicia Oshlack

    Diterbitkan 2018-08-01
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  6. 6
    Cost-effectiveness of massively parallel sequencing for diagnosis of paediatric muscle diseases

    Cost-effectiveness of massively parallel sequencing for diagnosis of paediatric muscle diseases oleh Deborah Schofield, Khurshid Alam, Lyndal Douglas, Rupendra Shrestha, Daniel G. MacArthur, Mark Davis, Nigel G. Laing, Nigel F. Clarke, Joshua Burns, Sandra T. Cooper, Kathryn N. North, Sarah A. Sandaradura, Gina L. O’Grady

    Diterbitkan 2017-03-01
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  7. 7
    Leveraging supervised learning for functionally informed fine-mapping of cis-eQTLs identifies an additional 20,913 putative causal eQTLs

    Leveraging supervised learning for functionally informed fine-mapping of cis-eQTLs identifies an additional 20,913 putative causal eQTLs oleh Qingbo S. Wang, David R. Kelley, Jacob Ulirsch, Masahiro Kanai, Shuvom Sadhuka, Ran Cui, Carlos Albors, Nathan Cheng, Yukinori Okada, The Biobank Japan Project, Francois Aguet, Kristin G. Ardlie, Daniel G. MacArthur, Hilary K. Finucane

    Diterbitkan 2021-06-01
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  8. 8
    A whole-genome sequence study identifies genetic risk factors for neuromyelitis optica

    A whole-genome sequence study identifies genetic risk factors for neuromyelitis optica oleh Karol Estrada, Christopher W. Whelan, Fengmei Zhao, Paola Bronson, Robert E. Handsaker, Chao Sun, John P. Carulli, Tim Harris, Richard M. Ransohoff, Steven A. McCarroll, Aaron G. Day-Williams, Benjamin M. Greenberg, Daniel G. MacArthur

    Diterbitkan 2018-05-01
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  9. 9
    Differences in 5'untranslated regions highlight the importance of translational regulation of dosage sensitive genes

    Differences in 5'untranslated regions highlight the importance of translational regulation of dosage sensitive genes oleh Nechama Wieder, Elston N. D’Souza, Alexandra C. Martin-Geary, Frederik H. Lassen, Jonathan Talbot-Martin, Maria Fernandes, Sonia P. Chothani, Owen J. L. Rackham, Sebastian Schafer, Julie L. Aspden, Daniel G. MacArthur, Robert W. Davies, Nicola Whiffin

    Diterbitkan 2024-04-01
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  10. 10
    Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes

    Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes oleh Qingbo Wang, Emma Pierce-Hoffman, Beryl B. Cummings, Jessica Alföldi, Laurent C. Francioli, Laura D. Gauthier, Andrew J. Hill, Anne H. O’Donnell-Luria, Genome Aggregation Database Production Team, Genome Aggregation Database Consortium, Konrad J. Karczewski, Daniel G. MacArthur

    Diterbitkan 2020-05-01
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  11. 11
    Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weakness

    Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weakness oleh Katherine Johnson, Ana Töpf, Marta Bertoli, Lauren Phillips, Kristl G. Claeys, Vidosava Rakocevic Stojanovic, Stojan Perić, Andreas Hahn, Paul Maddison, Ela Akay, Alexandra E. Bastian, Anna Łusakowska, Anna Kostera-Pruszczyk, Monkol Lek, Liwen Xu, Daniel G. MacArthur, Volker Straub

    Diterbitkan 2017-11-01
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  12. 12
    Author Correction: Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes

    Author Correction: Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes oleh Qingbo Wang, Emma Pierce-Hoffman, Beryl B. Cummings, Jessica Alföldi, Laurent C. Francioli, Laura D. Gauthier, Andrew J. Hill, Anne H. O’Donnell-Luria, Genome Aggregation Database Production Team, Genome Aggregation Database Consortium, Konrad J. Karczewski, Daniel G. MacArthur

    Diterbitkan 2021-02-01
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  13. 13
    Autosomal recessive variants in TUBGCP2 alter the γ-tubulin ring complex leading to neurodevelopmental disease

    Autosomal recessive variants in TUBGCP2 alter the γ-tubulin ring complex leading to neurodevelopmental disease oleh Serdal Gungor, Yavuz Oktay, Semra Hiz, Álvaro Aranguren-Ibáñez, Ipek Kalafatcilar, Ahmet Yaramis, Ezgi Karaca, Uluc Yis, Ece Sonmezler, Burcu Ekinci, Mahmut Aslan, Elmasnur Yilmaz, Bilge Özgör, Sunitha Balaraju, Nora Szabo, Steven Laurie, Sergi Beltran, Daniel G. MacArthur, Denisa Hathazi, Ana Töpf, Andreas Roos, Hanns Lochmuller, Isabelle Vernos, Rita Horvath

    Diterbitkan 2021-01-01
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  14. 14
    Characterising a healthy adult with a rare HAO1 knockout to support a therapeutic strategy for primary hyperoxaluria

    Characterising a healthy adult with a rare HAO1 knockout to support a therapeutic strategy for primary hyperoxaluria oleh Tracy L McGregor, Karen A Hunt, Elaine Yee, Dan Mason, Paul Nioi, Simina Ticau, Marissa Pelosi, Perry R Loken, Sarah Finer, Deborah A Lawlor, Eric B Fauman, Qin Qin Huang, Christopher J Griffiths, Daniel G MacArthur, Richard C Trembath, Devin Oglesbee, John C Lieske, David V Erbe, John Wright, David A van Heel

    Diterbitkan 2020-03-01
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  15. 15
    Author Correction: Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals

    Author Correction: Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals oleh Nicola Whiffin, Konrad J. Karczewski, Xiaolei Zhang, Sonia Chothani, Miriam J. Smith, D. Gareth Evans, Angharad M. Roberts, Nicholas M. Quaife, Sebastian Schafer, Owen Rackham, Jessica Alföldi, Anne H. O’Donnell-Luria, Laurent C. Francioli, Genome Aggregation Database Production Team, Genome Aggregation Database Consortium, Stuart A. Cook, Paul J. R. Barton, Daniel G. MacArthur, James S. Ware

    Diterbitkan 2021-02-01
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  16. 16
    Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals

    Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals oleh Nicola Whiffin, Konrad J. Karczewski, Xiaolei Zhang, Sonia Chothani, Miriam J. Smith, D. Gareth Evans, Angharad M. Roberts, Nicholas M. Quaife, Sebastian Schafer, Owen Rackham, Jessica Alföldi, Anne H. O’Donnell-Luria, Laurent C. Francioli, Genome Aggregation Database Production Team, Genome Aggregation Database Consortium, Stuart A. Cook, Paul J. R. Barton, Daniel G. MacArthur, James S. Ware

    Diterbitkan 2020-05-01
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  17. 17
    A cell type-aware framework for nominating non-coding variants in Mendelian regulatory disorders

    A cell type-aware framework for nominating non-coding variants in Mendelian regulatory disorders oleh Arthur S. Lee, Lauren J. Ayers, Michael Kosicki, Wai-Man Chan, Lydia N. Fozo, Brandon M. Pratt, Thomas E. Collins, Boxun Zhao, Matthew F. Rose, Alba Sanchis-Juan, Jack M. Fu, Isaac Wong, Xuefang Zhao, Alan P. Tenney, Cassia Lee, Kristen M. Laricchia, Brenda J. Barry, Victoria R. Bradford, Julie A. Jurgens, Eleina M. England, Monkol Lek, Daniel G. MacArthur, Eunjung Alice Lee, Michael E. Talkowski, Harrison Brand, Len A. Pennacchio, Elizabeth C. Engle

    Diterbitkan 2024-09-01
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  18. 18
    Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone

    Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone oleh Rhett G. Marchant, Samantha J. Bryen, Melanie Bahlo, Anita Cairns, Katherine R. Chao, Alastair Corbett, Mark R. Davis, Vijay S. Ganesh, Roula Ghaoui, Kristi J. Jones, Andrew J. Kornberg, Monkol Lek, Christina Liang, Daniel G. MacArthur, Emily C. Oates, Anne O'Donnell‐Luria, Gina L. O'Grady, Ikeoluwa A. Osei‐Owusu, Haloom Rafehi, Stephen W. Reddel, Richard H. Roxburgh, Monique M. Ryan, Sarah A. Sandaradura, Liam W. Scott, Elise Valkanas, Ben Weisburd, Helen Young, Frances J. Evesson, Leigh B. Waddell, Sandra T. Cooper

    Diterbitkan 2024-05-01
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  19. 19
    Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness

    Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb... oleh Katherine Johnson, Marta Bertoli, Lauren Phillips, Ana Töpf, Peter Van den Bergh, John Vissing, Nanna Witting, Shahriar Nafissi, Shirin Jamal-Omidi, Anna Łusakowska, Anna Kostera-Pruszczyk, Anna Potulska-Chromik, Nicolas Deconinck, Carina Wallgren-Pettersson, Sonja Strang-Karlsson, Jaume Colomer, Kristl G. Claeys, Willem De Ridder, Jonathan Baets, Maja von der Hagen, Roberto Fernández-Torrón, Miren Zulaica Ijurco, Juan Bautista Espinal Valencia, Andreas Hahn, Hacer Durmus, Tracey Willis, Liwen Xu, Elise Valkanas, Thomas E. Mullen, Monkol Lek, Daniel G. MacArthur, Volker Straub

    Diterbitkan 2018-07-01
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  20. 20
    Phenome-wide association studies across large population cohorts support drug target validation

    Phenome-wide association studies across large population cohorts support drug target validation oleh Dorothée Diogo, Chao Tian, Christopher S. Franklin, Mervi Alanne-Kinnunen, Michael March, Chris C. A. Spencer, Ciara Vangjeli, Michael E. Weale, Hannele Mattsson, Elina Kilpeläinen, Patrick M. A. Sleiman, Dermot F. Reilly, Joshua McElwee, Joseph C. Maranville, Arnaub K. Chatterjee, Aman Bhandari, Khanh-Dung H. Nguyen, Karol Estrada, Mary-Pat Reeve, Janna Hutz, Nan Bing, Sally John, Daniel G. MacArthur, Veikko Salomaa, Samuli Ripatti, Hakon Hakonarson, Mark J. Daly, Aarno Palotie, David A. Hinds, Peter Donnelly, Caroline S. Fox, Aaron G. Day-Williams, Robert M. Plenge, Heiko Runz

    Diterbitkan 2018-10-01
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