Search Results - Lek, Monkol

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  1. 1
    Decoding the genetics of rare disease: an interview with Monkol Lek

    Decoding the genetics of rare disease: an interview with Monkol Lek by Lek, Monkol

    Published 2022
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  2. 2
    Envisioning the next human genome reference

    Envisioning the next human genome reference by Lek, Monkol, Mardis, Elaine R.

    Published 2021
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  3. 3
    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 by Dawes, Ruebena, Lek, Monkol, Cooper, Sandra T.

    Published 2019
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  4. 4
    Genetic variance in human disease – modelling the future of genomic medicine

    Genetic variance in human disease – modelling the future of genomic medicine by Lek, Monkol, Hmeljak, Julija, Hooper, Kirsty M.

    Published 2022
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  5. 5
    Editorial: Application of Omics Approaches to the Diagnosis of Genetic Neurological Disorders

    Editorial: Application of Omics Approaches to the Diagnosis of Genetic Neurological Disorders by Legati, Andrea, Giacopuzzi, Edoardo, Spinazzi, Marco, Lek, Monkol

    Published 2021
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  6. 6
    Phylogenetic analysis of ferlin genes reveals ancient eukaryotic origins

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

    Published 2010
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  7. 7
    Therapeutic Approaches in Facioscapulohumeral Muscular Dystrophy

    Therapeutic Approaches in Facioscapulohumeral Muscular Dystrophy by Cohen, Justin, DeSimone, Alec, Lek, Monkol, Lek, Angela

    Published 2020
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  8. 8
    Cellular and animal models for facioscapulohumeral muscular dystrophy

    Cellular and animal models for facioscapulohumeral muscular dystrophy by DeSimone, Alec M., Cohen, Justin, Lek, Monkol, Lek, Angela

    Published 2020
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  9. 9
    Phylogenetic Analysis of Gene Structure and Alternative Splicing in α-Actinins

    Phylogenetic Analysis of Gene Structure and Alternative Splicing in α-Actinins by Lek, Monkol, MacArthur, Daniel G., Yang, Nan, North, Kathryn N.

    Published 2010
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  10. 10
    Whole-exome sequencing identifies mutations in MYMK in a mild form of Carey-Fineman-Ziter syndrome

    Whole-exome sequencing identifies mutations in MYMK in a mild form of Carey-Fineman-Ziter syndrome by Alrohaif, Hadil, Töpf, Ana, Evangelista, Teresinha, Lek, Monkol, McArthur, Daniel, Lochmüller, Hanns

    Published 2018
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  11. 11
    Myoblast sensitivity and fibroblast insensitivity to osteogenic conversion by BMP-2 correlates with the expression of Bmpr-1a

    Myoblast sensitivity and fibroblast insensitivity to osteogenic conversion by BMP-2 correlates with the expression of Bmpr-1a by Liu, Renjing, Ginn, Samantha L, Lek, Monkol, North, Kathryn N, Alexander, Ian E, Little, David G, Schindeler, Aaron

    Published 2009
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  12. 12
    ACTN3 Allele Frequency in Humans Covaries with Global Latitudinal Gradient

    ACTN3 Allele Frequency in Humans Covaries with Global Latitudinal Gradient by Friedlander, Scott M., Herrmann, Amanda L., Lowry, Daniel P., Mepham, Emily R., Lek, Monkol, North, Kathryn N., Organ, Chris L.

    Published 2013
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  13. 13
    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 by Zou, James, Valiant, Gregory, Valiant, Paul, Karczewski, Konrad, Chan, Siu On, Samocha, Kaitlin, Lek, Monkol, Sunyaev, Shamil, Daly, Mark, MacArthur, Daniel G.

    Published 2016
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  14. 14
    Whole-Exome Sequencing Reveals FAT4 Mutations in a Clinically Unrecognizable Patient with Syndromic CAKUT: A Case Report

    Whole-Exome Sequencing Reveals FAT4 Mutations in a Clinically Unrecognizable Patient with Syndromic CAKUT: A Case Report by van der Ven, Amelie T., Shril, Shirlee, Ityel, Hadas, Vivante, Asaf, Chen, Jing, Hwang, Daw-Yang, Laricchia, Kristen M., Lek, Monkol, Tasic, Velibor, Hildebrandt, Friedhelm

    Published 2017
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  15. 15
    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 by Ruderfer, Douglas M., Hamamsy, Tymor, Lek, Monkol, Karczewski, Konrad J., Kavanagh, David, Samocha, Kaitlin E., Daly, Mark J., MacArthur, Daniel G., Fromer, Menachem, Purcell, Shaun M.

    Published 2016
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  16. 16
    STRetch: detecting and discovering pathogenic short tandem repeat expansions

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

    Published 2018
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  17. 17
    Validation of the CMT Pediatric Scale as an outcome measure of disability

    Validation of the CMT Pediatric Scale as an outcome measure of disability by Burns, Joshua, Ouvrier, Robert, Estilow, Tim, Shy, Rosemary, Laurá, Matilde, Pallant, Julie F., Lek, Monkol, Muntoni, Francesco, Reilly, Mary M., Pareyson, Davide, Acsadi, Gyula, Shy, Michael E., Finkel, Richard S.

    Published 2012
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  18. 18
    Identification of a Novel Deep Intronic Mutation in CAPN3 Presenting a Promising Target for Therapeutic Splice Modulation

    Identification of a Novel Deep Intronic Mutation in CAPN3 Presenting a Promising Target for Therapeutic Splice Modulation by Hu, Ying, Mohassel, Payam, Donkervoort, Sandra, Yun, Pomi, Bolduc, Véronique, Ezzo, Daniel, Dastgir, Jahannaz, Marshall, Jamie L., Lek, Monkol, MacArthur, Daniel G., Foley, A. Reghan, Bönnemann, Carsten G.

    Published 2019
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  19. 19
    Allelic Expression of Deleterious Protein-Coding Variants across Human Tissues

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

    Published 2014
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  20. 20
    Contribution of non-coding mutations to RPGRIP1-mediated inherited retinal degeneration

    Contribution of non-coding mutations to RPGRIP1-mediated inherited retinal degeneration by Jamshidi, Farzad, Place, Emily M., Mehrotra, Sudeep, Navarro-Gomez, Daniel, Maher, Mathew, Branham, Kari E., Valkanas, Elise, Cherry, Timothy J., Lek, Monkol, MacArthur, Daniel, Pierce, Eric A., Bujakowska, Kinga M.

    Published 2018
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