Dr Monkol Lek

NHMRC Early Career Fellow
Paediatrics & Child Health, Children's Hospital, Westmead


Map

International links

United States

(Broad Institute of Harvard and MIT) NHMRC Overseas Biomedical Fellow - Host Institute

United States

(Harvard Medical School) NHMRC Overseas Biomedical Fellow - Academic Affiliation

United States

(Massachusetts General Hospital) NHMRC Overseas Biomedical Fellow - Host Institute

Selected grants

2013

  • The application of genomics technologies to the diagnosis of neuromuscular disorders; Lek M; National Health and Medical Research Council (NHMRC)/Early Career Fellowships (ECF).

Selected publications

Download citations: PDF RTF Endnote

Journals

  • Kukurba, K., Zhang, R., Li, X., Smith, K., Knowles, D., Tan, M., Piskol, R., Lek, M., Snyder, M., MacArthur, D., et al (2014). Allelic Expression of Deleterious Protein-Coding Variants across Human Tissues. PLoS Genetics, 10(5), 1-9. [More Information]
  • Sergouniotis, P., Chakarova, C., Murphy, C., Becker, M., Lenassi, E., Arno, G., Lek, M., MacArthur, D., Bhattacharya, S., Moore, A., et al (2014). Biallelic Variants in TTLL5, Encoding a Tubulin Glutamylase, Cause Retinal Dystrophy. American Journal of Human Genetics, 94, 760-769. [More Information]
  • Friedlander, S., Herrmann, A., Lowry, D., Mepham, E., Lek, M., North, K., Organ, C. (2013). ACTN3 Allele Frequency in Humans Covaries with Global Latitudinal Gradient. PLoS One, 8(1), 1-4. [More Information]
  • Seto, J., Quinlan (nee Edwards), K., Lek, M., Zheng, X., Garton, F., MacArthur, D., Hogarth, M., Houweling, P., Gregorevic, P., Turner, N., Yang, N., North, K., et al (2013). ACTN3 genotype infuences muscle performance through the regulation of calcineurin signaling. Journal of Clinical Investigation, 123(10), 4255-4263. [More Information]
  • Khurana, E., Fu, Y., Colonna, V., Mu, X., Kang, H., Lappalainen, T., Sboner, A., Lochovsky, L., Chen, J., Harmanci, A., et al (2013). Integrative Annotation of Variants from 1092 Humans: Application to Cancer Genomics. Science, 342, 1235587-1235587.
  • Oates, E., Rossor, A., Hafezparast, M., Gonzalez, M., Speziani, F., MacArthur, D., Lek, M., Cottenie, E., Scoto, M., Foley, A., Menezes, M., Clarke, N., et al (2013). Mutations in BICD2 Cause Dominant Congenital Spinal Muscular Atrophy and Hereditary Spastic Paraplegia. American Journal of Human Genetics, 92(6), 965-973. [More Information]
  • Hunt, K., Mistry, V., Bockett, N., Ahmad, T., Ban, M., Barker, J., Barrett, J., Blackburn, H., Brand, O., Burren, O., Lek, M., et al (2013). Negligible impact of rare autoimmune-locus coding-region variants on missing heritability. Nature, 498(7453), 232-235. [More Information]
  • Lim, E., Raychaudhuri, S., Sanders, S., Stevens, C., Sabo, A., MacArthur, D., Neale, B., Kirby, A., Ruderfer, D., Fromer, M., Lek, M., et al (2013). Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders. Neuron, 77(2), 235-242. [More Information]
  • Lappalainen, T., Sammeth, M., Friedländer, M., 't Hoen, P., Monlong, J., Rivas, M., Gonzàlez-Porta, M., Kurbatova, N., Griebel, T., Ferreira, P., Lek, M., et al (2013). Transcriptome and genome sequencing uncovers functional variation in humans. Nature, 501(7468), 506-511. [More Information]
  • Lek, M., MacArthur, D. (2012). The uncertain road towards genomic medicine. Trends in Genetics, 28(7), 303-305. [More Information]
  • Burns, J., Ouvrier, R., Estilow, T., Shy, R., Laura, M., Pallant, J., Lek, M., Muntoni, F., Reilly, M., Pareyson, D., et al (2012). Validation of the Charcot-Marie-Tooth disease pediatric scale as an outcome measure of disability. Annals of Neurology, 71(5), 642-652. [More Information]
  • Waddell, L., Tran, J., Zheng, X., Bonnemann, C., Hu, Y., Evesson, F., Lek, M., Arbuckle, S., Wang, M., Smith, R., North, K., Clarke, N. (2011). A study of FHL1, BAG3, MATR3, PTRF and TCAP in Australian muscular dystrophy patients. Neuromuscular Disorders, 21(11), 776-781. [More Information]
  • Seto, J., Lek, M., Quinlan (nee Edwards), K., Houweling, P., Zheng, X., Garton, F., Macarthur, D., Raftery, J., Garvey, S., Hauser, M., North, K., et al (2011). Deficiency of a-actinin-3 is associated with increased susceptibility to contraction-induced damage and skeletal muscle remodeling. Human Molecular Genetics. [More Information]
  • Yang, N., Schindeler, A., McDonald, M., Seto, J., Houweling, P., Lek, M., Hogarth, M., Morse, A., Raftery, J., Balasuriya, D., Berman, Y., Quinlan (nee Edwards), K., Little, D., North, K., et al (2011). α-Actinin-3 deficiency is associated with reduced bone mass in human and mouse. Bone, 49(4), 790-798. [More Information]
  • Quinlan (nee Edwards), K., Seto, J., Turner, N., Vandebrouck, A., Floetenmeyer, M., Macarthur, D., Raftery, J., Lek, M., Yang, N., Parton, R., North, K., et al (2010). Alpha-actinin-3 deficiency results in reduced glycogen phosphorylase activity and altered calcium handling in skeletal muscle. Human Molecular Genetics, 19(7), 1335-1346. [More Information]
  • Lek, M., North, K. (2010). Are biological sensors modulated by their structural scaffolds? The role of the structural muscle proteins alpha-actinin-2 and alpha-actinin-3 as modulators of biological sensors. FEBS Letters, 584(14), 2974-2980. [More Information]
  • Lek, A., Lek, M., North, K., Cooper, S. (2010). Phylogenetic analysis of ferlin genes reveals ancient eukaryotic origins. BMC Evolutionary Biology, 10(1), 231-1-231-15. [More Information]
  • Lek, M., MacArthur, D., Yang, N., North, K. (2010). Phylogenetic analysis of gene structure and alternative splicing in {alpha}-actinins. Molecular Biology and Evolution, 27(4), 773-780. [More Information]
  • Lek, M., Quinlan (nee Edwards), K., North, K. (2010). The evolution of skeletal muscle performance: gene duplication and divergence of human sarcomeric alpha-actinins. BioEssays, 32(1), 17-25. [More Information]
  • Liu, R., Ginn, S., Lek, M., North, K., Alexander, I., Little, D., Schindeler, A. (2009). Myoblast sensitivity and fibroblast insensitivity to osteogenic conversion by BMP-2 correlates with the expression of Bmpr-1 a. BMC Musculoskeletal Disorders, 10, 51-1-51-12. [More Information]

Conferences

  • Shy, M., Ouvrier, R., Estilow, T., Laura, M., Pallant, J., Lek, M., Pagliano, E., Moroni, I., Shy, R., Reilly, M., Burns, J., et al (2012). Validation of the Charcot-Marie-Tooth Pediatric Scale as an Outcome Measure of Disability. Inherited Neuropathies Consortium, US: Lippincott Williams & Wilkins.

2014

  • Kukurba, K., Zhang, R., Li, X., Smith, K., Knowles, D., Tan, M., Piskol, R., Lek, M., Snyder, M., MacArthur, D., et al (2014). Allelic Expression of Deleterious Protein-Coding Variants across Human Tissues. PLoS Genetics, 10(5), 1-9. [More Information]
  • Sergouniotis, P., Chakarova, C., Murphy, C., Becker, M., Lenassi, E., Arno, G., Lek, M., MacArthur, D., Bhattacharya, S., Moore, A., et al (2014). Biallelic Variants in TTLL5, Encoding a Tubulin Glutamylase, Cause Retinal Dystrophy. American Journal of Human Genetics, 94, 760-769. [More Information]

2013

  • Friedlander, S., Herrmann, A., Lowry, D., Mepham, E., Lek, M., North, K., Organ, C. (2013). ACTN3 Allele Frequency in Humans Covaries with Global Latitudinal Gradient. PLoS One, 8(1), 1-4. [More Information]
  • Seto, J., Quinlan (nee Edwards), K., Lek, M., Zheng, X., Garton, F., MacArthur, D., Hogarth, M., Houweling, P., Gregorevic, P., Turner, N., Yang, N., North, K., et al (2013). ACTN3 genotype infuences muscle performance through the regulation of calcineurin signaling. Journal of Clinical Investigation, 123(10), 4255-4263. [More Information]
  • Khurana, E., Fu, Y., Colonna, V., Mu, X., Kang, H., Lappalainen, T., Sboner, A., Lochovsky, L., Chen, J., Harmanci, A., et al (2013). Integrative Annotation of Variants from 1092 Humans: Application to Cancer Genomics. Science, 342, 1235587-1235587.
  • Oates, E., Rossor, A., Hafezparast, M., Gonzalez, M., Speziani, F., MacArthur, D., Lek, M., Cottenie, E., Scoto, M., Foley, A., Menezes, M., Clarke, N., et al (2013). Mutations in BICD2 Cause Dominant Congenital Spinal Muscular Atrophy and Hereditary Spastic Paraplegia. American Journal of Human Genetics, 92(6), 965-973. [More Information]
  • Hunt, K., Mistry, V., Bockett, N., Ahmad, T., Ban, M., Barker, J., Barrett, J., Blackburn, H., Brand, O., Burren, O., Lek, M., et al (2013). Negligible impact of rare autoimmune-locus coding-region variants on missing heritability. Nature, 498(7453), 232-235. [More Information]
  • Lim, E., Raychaudhuri, S., Sanders, S., Stevens, C., Sabo, A., MacArthur, D., Neale, B., Kirby, A., Ruderfer, D., Fromer, M., Lek, M., et al (2013). Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders. Neuron, 77(2), 235-242. [More Information]
  • Lappalainen, T., Sammeth, M., Friedländer, M., 't Hoen, P., Monlong, J., Rivas, M., Gonzàlez-Porta, M., Kurbatova, N., Griebel, T., Ferreira, P., Lek, M., et al (2013). Transcriptome and genome sequencing uncovers functional variation in humans. Nature, 501(7468), 506-511. [More Information]

2012

  • Lek, M., MacArthur, D. (2012). The uncertain road towards genomic medicine. Trends in Genetics, 28(7), 303-305. [More Information]
  • Burns, J., Ouvrier, R., Estilow, T., Shy, R., Laura, M., Pallant, J., Lek, M., Muntoni, F., Reilly, M., Pareyson, D., et al (2012). Validation of the Charcot-Marie-Tooth disease pediatric scale as an outcome measure of disability. Annals of Neurology, 71(5), 642-652. [More Information]
  • Shy, M., Ouvrier, R., Estilow, T., Laura, M., Pallant, J., Lek, M., Pagliano, E., Moroni, I., Shy, R., Reilly, M., Burns, J., et al (2012). Validation of the Charcot-Marie-Tooth Pediatric Scale as an Outcome Measure of Disability. Inherited Neuropathies Consortium, US: Lippincott Williams & Wilkins.

2011

  • Waddell, L., Tran, J., Zheng, X., Bonnemann, C., Hu, Y., Evesson, F., Lek, M., Arbuckle, S., Wang, M., Smith, R., North, K., Clarke, N. (2011). A study of FHL1, BAG3, MATR3, PTRF and TCAP in Australian muscular dystrophy patients. Neuromuscular Disorders, 21(11), 776-781. [More Information]
  • Seto, J., Lek, M., Quinlan (nee Edwards), K., Houweling, P., Zheng, X., Garton, F., Macarthur, D., Raftery, J., Garvey, S., Hauser, M., North, K., et al (2011). Deficiency of a-actinin-3 is associated with increased susceptibility to contraction-induced damage and skeletal muscle remodeling. Human Molecular Genetics. [More Information]
  • Yang, N., Schindeler, A., McDonald, M., Seto, J., Houweling, P., Lek, M., Hogarth, M., Morse, A., Raftery, J., Balasuriya, D., Berman, Y., Quinlan (nee Edwards), K., Little, D., North, K., et al (2011). α-Actinin-3 deficiency is associated with reduced bone mass in human and mouse. Bone, 49(4), 790-798. [More Information]

2010

  • Quinlan (nee Edwards), K., Seto, J., Turner, N., Vandebrouck, A., Floetenmeyer, M., Macarthur, D., Raftery, J., Lek, M., Yang, N., Parton, R., North, K., et al (2010). Alpha-actinin-3 deficiency results in reduced glycogen phosphorylase activity and altered calcium handling in skeletal muscle. Human Molecular Genetics, 19(7), 1335-1346. [More Information]
  • Lek, M., North, K. (2010). Are biological sensors modulated by their structural scaffolds? The role of the structural muscle proteins alpha-actinin-2 and alpha-actinin-3 as modulators of biological sensors. FEBS Letters, 584(14), 2974-2980. [More Information]
  • Lek, A., Lek, M., North, K., Cooper, S. (2010). Phylogenetic analysis of ferlin genes reveals ancient eukaryotic origins. BMC Evolutionary Biology, 10(1), 231-1-231-15. [More Information]
  • Lek, M., MacArthur, D., Yang, N., North, K. (2010). Phylogenetic analysis of gene structure and alternative splicing in {alpha}-actinins. Molecular Biology and Evolution, 27(4), 773-780. [More Information]
  • Lek, M., Quinlan (nee Edwards), K., North, K. (2010). The evolution of skeletal muscle performance: gene duplication and divergence of human sarcomeric alpha-actinins. BioEssays, 32(1), 17-25. [More Information]

2009

  • Liu, R., Ginn, S., Lek, M., North, K., Alexander, I., Little, D., Schindeler, A. (2009). Myoblast sensitivity and fibroblast insensitivity to osteogenic conversion by BMP-2 correlates with the expression of Bmpr-1 a. BMC Musculoskeletal Disorders, 10, 51-1-51-12. [More Information]

To update your profile click here. For support on your academic profile contact .