検索結果 - Lek, Monkol

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

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

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

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

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

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

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

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

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

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

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

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

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

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Whole-Exome Sequencing Reveals FAT4 Mutations in a Clinically Unrecognizable Patient with Syndromic CAKUT: A Case Report 著者: 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

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Patterns of genic intolerance of rare copy number variation in 59,898 human exomes 著者: 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.

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STRetch: detecting and discovering pathogenic short tandem repeat expansions 著者: 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

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Validation of the CMT Pediatric Scale as an outcome measure of disability 著者: 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.

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Identification of a Novel Deep Intronic Mutation in CAPN3 Presenting a Promising Target for Therapeutic Splice Modulation 著者: 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.

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Allelic Expression of Deleterious Protein-Coding Variants across Human Tissues 著者: 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.

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Contribution of non-coding mutations to RPGRIP1-mediated inherited retinal degeneration 著者: 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.

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