Sökresultat - Lek, Monkol

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

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

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

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

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

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

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

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

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