检索结果 - Monkol Lek

Refine Results
  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 由 Ruebena Dawes, Monkol Lek, Sandra T. Cooper

    出版 2019
    获取全文 获取全文
    Revisão
    加到收藏夹
    Saved in:
  2. 2
    Phylogenetic analysis of ferlin genes reveals ancient eukaryotic origins

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

    出版 2010
    获取全文 获取全文
    Artigo
    加到收藏夹
    Saved in:
  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 由 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

    出版 2016
    获取全文
    Artigo
    加到收藏夹
    Saved in:
  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 由 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

    出版 2016
    获取全文
    Artigo
    加到收藏夹
    Saved in:
  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 由 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

    出版 2012
    获取全文
    Artigo
    加到收藏夹
    Saved in:
  6. 6
    STRetch: detecting and discovering pathogenic short tandem repeat expansions

    STRetch: detecting and discovering pathogenic short tandem repeat expansions 由 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

    出版 2018
    获取全文 获取全文
    Artigo
    加到收藏夹
    Saved in:
  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 由 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

    出版 2019
    获取全文 获取全文
    Artigo
    加到收藏夹
    Saved in:
  8. 8
    Allelic Expression of Deleterious Protein-Coding Variants across Human Tissues

    Allelic Expression of Deleterious Protein-Coding Variants across Human Tissues 由 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

    出版 2014
    获取全文 获取全文
    Artigo
    加到收藏夹
    Saved in:
  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 由 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

    出版 2015
    获取全文 获取全文
    Artigo
    加到收藏夹
    Saved in:
  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 由 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

    出版 2010
    获取全文
    Artigo
    加到收藏夹
    Saved in:
  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 由 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

    出版 2016
    获取全文 获取全文
    Artigo
    加到收藏夹
    Saved in:
  12. 12
    <scp>RNA</scp> seq analysis for the diagnosis of muscular dystrophy

    <scp>RNA</scp> seq analysis for the diagnosis of muscular dystrophy 由 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

    出版 2015
    获取全文 获取全文
    Artigo
    加到收藏夹
    Saved in:
  13. 13
    ACTN3 genotype influences muscle performance through the regulation of calcineurin signaling

    ACTN3 genotype influences muscle performance through the regulation of calcineurin signaling 由 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

    出版 2013
    获取全文 获取全文
    Artigo
    加到收藏夹
    Saved in:
  14. 14
    Biallelic Variants in TTLL5, Encoding a Tubulin Glutamylase, Cause Retinal Dystrophy

    Biallelic Variants in TTLL5, Encoding a Tubulin Glutamylase, Cause Retinal Dystrophy 由 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

    出版 2014
    获取全文
    Artigo
    加到收藏夹
    Saved in:
  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 由 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

    出版 2011
    获取全文 获取全文
    Artigo
    加到收藏夹
    Saved in:
  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 由 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

    出版 2017
    获取全文 获取全文
    Artigo
    加到收藏夹
    Saved in:
  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 由 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

    出版 2020
    获取全文 获取全文
    Artigo
    加到收藏夹
    Saved in:
  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 由 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

    出版 2017
    获取全文
    Artigo
    加到收藏夹
    Saved in:
  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 由 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

    出版 2020
    获取全文
    Artigo
    加到收藏夹
    Saved in:
  20. 20
    Mitochondrial DNA variation across 56,434 individuals in gnomAD

    Mitochondrial DNA variation across 56,434 individuals in gnomAD 由 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

    出版 2022
    获取全文 获取全文
    Artigo
    加到收藏夹
    Saved in:

检索工具: