Výsledky vyhledávání - Monkol Lek

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  1. 1
    Gene discovery informatics toolkit defines candidate genes for unexplained infertility and prenatal or infantile mortality

    Gene discovery informatics toolkit defines candidate genes for unexplained infertility and prenatal or infantile mortality Autor Ruebena Dawes, Monkol Lek, Sandra T. Cooper

    Vydáno 2019
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    Revisão
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  2. 2
    Phylogenetic analysis of ferlin genes reveals ancient eukaryotic origins

    Phylogenetic analysis of ferlin genes reveals ancient eukaryotic origins Autor Angela Lek, Monkol Lek, Kathryn N. North, Sandra T. Cooper

    Vydáno 2010
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    Artigo
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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 Autor James Zou, Gregory Valiant, Paul Valiant, Konrad J. Karczewski, Siu On Chan, Kaitlin E. Samocha, Monkol Lek, Shamil Sunyaev, Mark J. Daly, Daniel G. MacArthur

    Vydáno 2016
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  4. 4
    Patterns of genic intolerance of rare copy number variation in 59,898 human exomes

    Patterns of genic intolerance of rare copy number variation in 59,898 human exomes Autor Douglas M. Ruderfer, Tymor Hamamsy, Monkol Lek, Konrad J. Karczewski, David Kavanagh, Kaitlin E. Samocha, Mark J. Daly, Daniel G. MacArthur, Menachem Fromer, Shaun Purcell

    Vydáno 2016
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  5. 5
    Validation of the Charcot–Marie–Tooth disease pediatric scale as an outcome measure of disability

    Validation of the Charcot–Marie–Tooth disease pediatric scale as an outcome measure of disability Autor Joshua Burns, Robert Ouvrier, Tim Estilow, Rosemary Shy, Matilde Laurá, Julie Pallant, Monkol Lek, Francesco Muntoni, Mary M. Reilly, Davide Pareyson, Gyula Acsádi, Michael E. Shy, Richard S. Finkel

    Vydáno 2012
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  6. 6
    STRetch: detecting and discovering pathogenic short tandem repeat expansions

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

    Vydáno 2018
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  7. 7
    Estimating prevalence for limb-girdle muscular dystrophy based on public sequencing databases

    Estimating prevalence for limb-girdle muscular dystrophy based on public sequencing databases Autor Wei Liu, Sander Pajusalu, Nicole J. Lake, Geyu Zhou, Nilah M. Ioannidis, Plavi Mittal, Nicholas E. Johnson, Conrad C. Weihl, Bradley A. Williams, Douglas E. Albrecht, Laura Rufibach, Monkol Lek

    Vydáno 2019
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  8. 8
    Allelic Expression of Deleterious Protein-Coding Variants across Human Tissues

    Allelic Expression of Deleterious Protein-Coding Variants across Human Tissues Autor Kimberly R. Kukurba, Rui Zhang, Xin Li, Kevin S. Smith, David A. Knowles, Meng How Tan, Robert Piskol, Monkol Lek, M Snyder, Daniel G. MacArthur, Jin Billy Li, Stephen B. Montgomery

    Vydáno 2014
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  9. 9
    Analysis of the<i>ACTN3</i>heterozygous genotype suggests that α-actinin-3 controls sarcomeric composition and muscle function in a dose-dependent fashion

    Analysis of the<i>ACTN3</i>heterozygous genotype suggests that α-actinin-3 controls sarcomeric composition and muscle function in a dose-dependent fashion Autor Marshall W. Hogarth, Fleur C. Garton, Peter J. Houweling, Taru Tukiainen, Monkol Lek, Daniel G. MacArthur, Jane T. Seto, Kate G.R. Quinlan, Nan Yang, Stewart I. Head, Kathryn N. North

    Vydáno 2015
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  10. 10
    α-Actinin-3 deficiency results in reduced glycogen phosphorylase activity and altered calcium handling in skeletal muscle

    α-Actinin-3 deficiency results in reduced glycogen phosphorylase activity and altered calcium handling in skeletal muscle Autor Kate G. R. Quinlan, Jane T. Seto, Nigel Turner, Aurélie Vandebrouck, Matthias Floetenmeyer, Daniel G. MacArthur, Joanna M. Raftery, Monkol Lek, Nan Yang, Robert G. Parton, Gregory J. Cooney, Kathryn N. North

    Vydáno 2010
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  11. 11
    The ExAC browser: displaying reference data information from over 60 000 exomes

    The ExAC browser: displaying reference data information from over 60 000 exomes Autor Konrad J. Karczewski, Ben Weisburd, Brett Thomas, Matthew Solomonson, Douglas M. Ruderfer, David Kavanagh, Tymor Hamamsy, Monkol Lek, Kaitlin E. Samocha, Beryl B. Cummings, Daniel Birnbaum, Mark J. Daly, Daniel G. MacArthur

    Vydáno 2016
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  12. 12
    <scp>RNA</scp> seq analysis for the diagnosis of muscular dystrophy

    <scp>RNA</scp> seq analysis for the diagnosis of muscular dystrophy Autor Hernán Gonorazky, Minggao Liang, Beryl B. Cummings, Monkol Lek, Johann Micallef, Cynthia Hawkins, Raveen Basran, Ronald D. Cohn, Michael D. Wilson, Daniel G. MacArthur, Christian R. Marshall, Peter N. Ray, James J. Dowling

    Vydáno 2015
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  13. 13
    ACTN3 genotype influences muscle performance through the regulation of calcineurin signaling

    ACTN3 genotype influences muscle performance through the regulation of calcineurin signaling Autor Jane T. Seto, Kate G.R. Quinlan, Monkol Lek, Xi Zheng, Fleur C. Garton, Daniel G. MacArthur, Marshall W. Hogarth, Peter J. Houweling, Paul Gregorevic, Nigel Turner, Gregory J. Cooney, Nan Yang, Kathryn N. North

    Vydáno 2013
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  14. 14
    Biallelic Variants in TTLL5, Encoding a Tubulin Glutamylase, Cause Retinal Dystrophy

    Biallelic Variants in TTLL5, Encoding a Tubulin Glutamylase, Cause Retinal Dystrophy Autor Panagiotis I. Sergouniotis, Christina Chakarova, Cian Murphy, Mirjana M Becker, Eva Lenassi, Gavin Arno, Monkol Lek, Daniel G. MacArthur, Shomi S. Bhattacharya, Anthony T. Moore, Graham E. Holder, Anthony G. Robson, Uwe Wolfrum, Andrew R. Webster, Vincent Plagnol

    Vydáno 2014
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  15. 15
    Deficiency of α-actinin-3 is associated with increased susceptibility to contraction-induced damage and skeletal muscle remodeling

    Deficiency of α-actinin-3 is associated with increased susceptibility to contraction-induced damage and skeletal muscle remodeling Autor Jane T. Seto, Monkol Lek, Kate G.R. Quinlan, Peter J. Houweling, Xi Zheng, Fleur C. Garton, Daniel G. MacArthur, Joanna M. Raftery, Sean M. Garvey, Michael A. Hauser, Nan Yang, Stewart I. Head, Kathryn N. North

    Vydáno 2011
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  16. 16
    Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy

    Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy Autor Elizabeth Harris, Ana Töpf, Rita Barresi, Judith A. Hudson, Helen Powell, James O. Tellez, Debbie Hicks, Anna Porter, Marta Bértoli, Teresinha Evangelista, Chiara Marini-Betollo, Ólafur Þ. Magnússon, Monkol Lek, Daniel G. MacArthur, Kate Bushby, Hanns Lochmüller, Volker Straub

    Vydáno 2017
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  17. 17
    A three-year follow-up study evaluating clinical utility of exome sequencing and diagnostic potential of reanalysis

    A three-year follow-up study evaluating clinical utility of exome sequencing and diagnostic potential of reanalysis Autor Jasmine Lee Fong Fung, Mullin H.C. Yu, Shushu Huang, Claudia Ching Yan Chung, Marcus C.Y. Chan, Sander Pajusalu, Christopher Chun Yu Mak, Vivian Chin Chin Hui, Mandy Ho Yin Tsang, Kit San Yeung, Monkol Lek, Brian Hon‐Yin Chung

    Vydáno 2020
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  18. 18
    Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples

    Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples Autor Jack A. Kosmicki, Kaitlin E. Samocha, Daniel P. Howrigan, Stephan Sanders, Kamil Slowikowski, Monkol Lek, Konrad J. Karczewski, David J. Cutler, Bernie Devlin, Kathryn Roeder, Joseph D. Buxbaum, Benjamin M. Neale, Daniel G. MacArthur, Dennis P. Wall, Elise Robinson, Mark J. Daly

    Vydáno 2017
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  19. 19
    Applying genome-wide CRISPR-Cas9 screens for therapeutic discovery in facioscapulohumeral muscular dystrophy

    Applying genome-wide CRISPR-Cas9 screens for therapeutic discovery in facioscapulohumeral muscular dystrophy Autor Angela Lek, Tracy Zhang, Keryn G. Woodman, Shushu Huang, Alec M. DeSimone, Justin Cohen, Vincent Ho, James R. Conner, Lillian Mead, Andrew Kodani, Anna Pakuła, Neville E. Sanjana, Oliver D. King, Peter L. Jones, Kathryn R. Wagner, Monkol Lek, Louis M. Kunkel

    Vydáno 2020
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  20. 20
    Mitochondrial DNA variation across 56,434 individuals in gnomAD

    Mitochondrial DNA variation across 56,434 individuals in gnomAD Autor Kristen M. Laricchia, Nicole J. Lake, Nicholas A. Watts, Megan Shand, Andrea Haessly, Laura D. Gauthier, David Benjamin, Eric Banks, José Soto, Kiran Garimella, James Emery, Heidi L. Rehm, Daniel G. MacArthur, Grace Tiao, Monkol Lek, Vamsi K. Mootha, Sarah E. Calvo

    Vydáno 2022
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