Ngā hua rapu - Lek, Monkol

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

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

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

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

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

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

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

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

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