Результаты поиска - Monkol Lek

Отмена результатов
  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 по Ruebena Dawes, Monkol Lek, Sandra T. Cooper

    Опубликовано 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 по Angela Lek, Monkol Lek, Kathryn N. North, Sandra T. Cooper

    Опубликовано 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 по 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

    Опубликовано 2016
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    Artigo
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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 по 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

    Опубликовано 2016
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    Artigo
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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 по 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

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

    STRetch: detecting and discovering pathogenic short tandem repeat expansions по 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

    Опубликовано 2018
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    Artigo
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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 по 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

    Опубликовано 2019
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    Artigo
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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 по 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

    Опубликовано 2014
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    Artigo
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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 по 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

    Опубликовано 2015
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    Artigo
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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 по 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

    Опубликовано 2010
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    Artigo
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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 по 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

    Опубликовано 2016
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    Artigo
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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 по 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

    Опубликовано 2015
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    Artigo
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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 по 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

    Опубликовано 2013
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    Artigo
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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 по 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

    Опубликовано 2014
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    Artigo
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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 по 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

    Опубликовано 2011
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    Artigo
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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 по 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

    Опубликовано 2017
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    Artigo
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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 по 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

    Опубликовано 2020
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    Artigo
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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 по 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

    Опубликовано 2017
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    Artigo
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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 по 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

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

    Mitochondrial DNA variation across 56,434 individuals in gnomAD по 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

    Опубликовано 2022
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    Artigo
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