Torthaí cuardaigh - Lek, Monkol

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

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

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

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

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

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

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

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

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Phylogenetic Analysis of Gene Structure and Alternative Splicing in α-Actinins de réir 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 de réir 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 de réir 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 de réir 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 de réir 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 de réir 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 de réir 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 de réir 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 de réir 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 de réir 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 de réir 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 de réir 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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