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Group Publications associated with reproductive carrier screening

  • Laing, N G, T Siddique, R J Bartlett, L H Yamaoka, W-Y Hung, M A Pericak-Vance, and A D Roses. 1989. ‘Duchenne muscular dystrophy: detection of deletion carriers by spectrophotometric densitometry’, Clinical  Genetics, 35: 393-98. https://www.ncbi.nlm.nih.gov/pubmed/2736788
  • Laing, N. G., M. E. Mears, D. C. Chandler, M. G. Layton, H. E. Thomas, R. D. Johnsen, J. Goldblatt, and B. A. Kakulas. 1991. ‘The diagnosis of Duchenne and Becker muscular dystrophies: two years’ experience in a comprehensive carrier screening and prenatal diagnostic laboratory’, The Medical journal of Australia, 154: 14-8. https://www.ncbi.nlm.nih.gov/pubmed/1670611
  • Laing, N. G. 1993. ‘Molecular genetics and genetic counselling for Duchenne/Becker muscular dystrophy’, Mol Cell Biol Hum Dis Ser, 3: 37-84. https://www.ncbi.nlm.nih.gov/pubmed/8111545
  • Laing, N. G. 2012. ‘Genetics of neuromuscular disorders’, Crit Rev Clin Lab Sci, 49: 33-48. http://www.ncbi.nlm.nih.gov/pubmed/22468856
  • Laing, N. 2016a. ‘What is the role of preconception carrier screening in neurology?’, Advances in Clinical Neuroscience and Rehabilitation, 16: 5-6.
  • Laing, N. 2016b. ‘Playing Genetic Roulette’. https://www.youtube.com/watch?v=ZkOLTfEyLXg
  • Molster, C. M., K. Lister, S. Metternick-Jones, G. Baynam, A. J. Clarke, V. Straub, H. J. Dawkins, and N. Laing. 2017. ‘Outcomes of an International Workshop on Preconception Expanded Carrier Screening: Some Considerations for Governments’, Frontiers in Public Health, 5: 25. https://www.ncbi.nlm.nih.gov/pubmed/28286745
  • Ong, R., D. Howting, A. Rea, H. Christian, P. Charman, C. Molster, G. Ravenscroft, and N. G. Laing. 2018. ‘Measuring the impact of genetic knowledge on intentions and attitudes of the community towards expanded preconception carrier screening’, J Med Genet, 55: 744-52. https://www.ncbi.nlm.nih.gov/pubmed/30068663
  • Delatycki, M. B., N. Laing, and E. Kirk. 2019. ‘Expanded reproductive carrier screening-how can we do the most good and cause the least harm?’, Eur J Hum Genet, 27: 669-70. https://www.ncbi.nlm.nih.gov/pubmed/30760884
  • Delatycki, M. B., N. G. Laing, S. J. Moore, J. Emery, A. D. Archibald, J. Massie, and E. P. Kirk. 2019. ‘Preconception and antenatal carrier screening for genetic conditions: The critical role of general practitioners’, Aust J Gen Pract, 48: 106-10. https://www.ncbi.nlm.nih.gov/pubmed/31256466
  • Ong, R., S. Edwards, D. Howting, B. Kamien, K. Harrop, G. Ravenscroft, M. Davis, M. Fietz, N. Pachter, J. Beilby, and N. Laing. 2019. ‘Study protocol of a multicentre cohort pilot study implementing an expanded preconception carrier-screening programme in metropolitan and regional Western Australia’, BMJ Open, 9: e028209. https://www.ncbi.nlm.nih.gov/pubmed/31209093
  • Delatycki, M. B., F. Alkuraya, A. Archibald, C. Castellani, M. Cornel, W. W. Grody, L. Henneman, A. S. Ioannides, E. Kirk, N. Laing, A. Lucassen, J. Massie, J. Schuurmans, M. K. Thong, I. van Langen, and J. Zlotogora. 2020. ‘International perspectives on the implementation of reproductive carrier screening’, Prenat Diagn, 40: 301-10. https://www.ncbi.nlm.nih.gov/pubmed/31774570
  • Kirk, E. P., R. Ong, K. Boggs, T. Hardy, S. Righetti, B. Kamien, T. Roscioli, D. J. Amor, M. Bakshi, C. W. T. Chung, A. Colley, R. V. Jamieson, J. Liebelt, A. Ma, N. Pachter, S. Rajagopalan, A. Ravine, M. Wilson, J. Caruana, R. Casella, M. Davis, S. Edwards, A. Archibald, J. McGaughran, A. J. Newson, N. G. Laing, and M. B. Delatycki. 2020. ‘Gene selection for the Australian Reproductive Genetic Carrier Screening Project (“Mackenzie’s Mission”)’, Eur J Hum Genet. https://www.ncbi.nlm.nih.gov/pubmed/32678339

Publications of others relevant to the Reproductive Carrier Screening theme in the Group

  • Casella, R. 2020. Mackenzie’s Mission. How one family turned tragedy into hope and love. (Allen & Unwin).

Group publications associated with Development of Improved Diagnostics

  • Ravenscroft, G., E. M. Thompson, E. J. Todd, K. S. Yau, N. Kresoje, P. Sivadorai, K. Friend, K. Riley, N. D. Manton, P. Blumbergs, M. Fietz, R. M. Duff, M. R. Davis, R. J. Allcock, and N. G. Laing. 2013. ‘Whole exome sequencing in foetal akinesia expands the genotype-phenotype spectrum of GBE1 glycogen storage disease mutations’, Neuromuscul Disord, 23: 165-9. http://www.ncbi.nlm.nih.gov/pubmed/23218673
  • Ghaoui, R., S. T. Cooper, M. Lek, K. Jones, A. Corbett, S. W. Reddel, M. Needham, C. Liang, L. B. Waddell, G. Nicholson, G. O’Grady, S. Kaur, R. Ong, M. R. Davis, C. M. Sue, N. G. Laing, K. N. North, D. G. MacArthur, and N. F. Clarke. 2015. ‘Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons Learned’, JAMA Neurol, 72: 1424-32. http://www.ncbi.nlm.nih.gov/pubmed/26436962
  • Todd, E. J., K. S. Yau, R. Ong, J. Slee, G. McGillivray, C. P. Barnett, G. Haliloglu, B. Talim, Z. Akcoren, A. Kariminejad, A. Cairns, N. F. Clarke, M. L. Freckmann, N. B. Romero, D. Williams, C. A. Sewry, A. Colley, M. M. Ryan, C. Kiraly-Borri, P. Sivadorai, R. J. Allcock, D. Beeson, S. Maxwell, M. R. Davis, N. G. Laing, and G. Ravenscroft. 2015. ‘Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth’, Orphanet J Rare Dis, 10: 148. http://www.ncbi.nlm.nih.gov/pubmed/26578207
  • O’Grady, G. L., M. Lek, S. R. Lamande, L. Waddell, E. C. Oates, J. Punetha, R. Ghaoui, S. A. Sandaradura, H. Best, S. Kaur, M. Davis, N. G. Laing, F. Muntoni, E. Hoffman, D. G. MacArthur, N. F. Clarke, S. Cooper, and K. North. 2016. ‘Diagnosis and etiology of congenital muscular dystrophy: We are halfway there’, Ann Neurol, 80: 101-11. http://www.ncbi.nlm.nih.gov/pubmed/27159402
  • Cummings, B. B., J. L. Marshall, T. Tukiainen, M. Lek, S. Donkervoort, A. R. Foley, V. Bolduc, L. B. Waddell, S. A. Sandaradura, G. L. O’Grady, E. Estrella, H. M. Reddy, F. Zhao, B. Weisburd, K. J. Karczewski, A. H. O’Donnell-Luria, D. Birnbaum, A. Sarkozy, Y. Hu, H. Gonorazky, K. Claeys, H. Joshi, A. Bournazos, E. C. Oates, R. Ghaoui, M. R. Davis, N. G. Laing, A. Topf, Consortium Genotype-Tissue Expression, P. B. Kang, A. H. Beggs, K. N. North, V. Straub, J. J. Dowling, F. Muntoni, N. F. Clarke, S. T. Cooper, C. G. Bonnemann, and D. G. MacArthur. 2017. ‘Improving genetic diagnosis in Mendelian disease with transcriptome sequencing’, Sci Transl Med, 9. https://www.ncbi.nlm.nih.gov/pubmed/28424332
  • Ravenscroft, G., M. R. Davis, P. Lamont, A. Forrest, and N. G. Laing. 2017. ‘New era in genetics of early-onset muscle disease: Breakthroughs and challenges’, Semin Cell Dev Biol, 64: 160-70. https://www.ncbi.nlm.nih.gov/pubmed/27519468
  • Schofield, D., K. Alam, L. Douglas, R. Shrestha, D. G. MacArthur, M. Davis, N. G. Laing, N. F. Clarke, J. Burns, S. T. Cooper, K. N. North, S. A. Sandaradura, and G. L. O’Grady. 2017. ‘Cost-effectiveness of massively parallel sequencing for diagnosis of paediatric muscle diseases’, NPJ Genom Med, 2: 4. https://www.ncbi.nlm.nih.gov/pubmed/29152331
  • Beecroft, S. J., M. Lombard, D. Mowat, C. McLean, A. Cairns, M. Davis, N. G. Laing, and G. Ravenscroft. 2018. ‘Genetics of neuromuscular fetal akinesia in the genomics era’, J Med Genet, 55: 505-14. https://www.ncbi.nlm.nih.gov/pubmed/29959180
  • Dashnow, H., M. Lek, B. Phipson, A. Halman, S. Sadedin, A. Lonsdale, M. Davis, P. Lamont, J. S. Clayton, N. G. Laing, D. G. MacArthur, and A. Oshlack. 2018. ‘STRetch: detecting and discovering pathogenic short tandem repeat expansions’, Genome biology, 19: 121. https://www.ncbi.nlm.nih.gov/pubmed/30129428
  • Bryen, S. J., H. Joshi, F. J. Evesson, C. Girard, R. Ghaoui, L. B. Waddell, A. C. Testa, B. Cummings, S. Arbuckle, N. Graf, R. Webster, D. G. MacArthur, N. G. Laing, M. R. Davis, R. Luhrmann, and S. T. Cooper. 2019. ‘Pathogenic Abnormal Splicing Due to Intronic Deletions that Induce Biophysical Space Constraint for Spliceosome Assembly’, Am J Hum Genet, 105: 573-87. https://www.ncbi.nlm.nih.gov/pubmed/31447096
  • Beecroft, S. J., K. S. Yau, R. J. N. Allcock, K. Mina, R. Gooding, F. Faiz, V. J. Atkinson, C. Wise, P. Sivadorai, D. Trajanoski, N. Kresoje, R. Ong, R. M. Duff, M. Cabrera-Serrano, K. J. Nowak, N. Pachter, G. Ravenscroft, P. J. Lamont, M. R. Davis, and N. G. Laing. 2020. ‘Targeted gene panel use in 2249 neuromuscular patients: the Australasian referral center experience’, Ann Clin Transl Neurol, 7: 353-62. https://www.ncbi.nlm.nih.gov/pubmed/32153140

Group publications associated with Development of Treatments for Genetic Muscle Diseases

  • Nowak, K. J., G. Ravenscroft, C. Jackaman, A. Filipovska, S. M. Davies, E. M. Lim, S. E. Squire, A. C. Potter, E. Baker, S. Clement, C. A. Sewry, V. Fabian, K. Crawford, J. L. Lessard, L. M. Griffiths, J. M. Papadimitriou, Y. Shen, G. Morahan, A. J. Bakker, K. E. Davies, and N. G. Laing. 2009. ‘Rescue of skeletal muscle alpha-actin-null mice by cardiac (fetal) alpha-actin’, J Cell Biol, 185: 903-15. https://www.ncbi.nlm.nih.gov/pubmed/19468071
  • Ravenscroft, G., C. Jackaman, S. Bringans, J. M. Papadimitriou, L. M. Griffiths, E. McNamara, A. J. Bakker, K. E. Davies, N. G. Laing, and K. J. Nowak. 2011. ‘Mouse models of dominant ACTA1 disease recapitulate human disease and provide insight into therapies’, Brain, 134: 1101-15. http://www.ncbi.nlm.nih.gov/pubmed/21303860
  • Jain, R. K., S. Jayawant, W. Squier, F. Muntoni, C. A. Sewry, A. Manzur, R. Quinlivan, S. Lillis, H. Jungbluth, J. C. Sparrow, G. Ravenscroft, K. J. Nowak, M. Memo, S. B. Marston, and N. G. Laing. 2012. ‘Nemaline myopathy with stiffness and hypertonia associated with an ACTA1 mutation’, Neurology, 78: 1100-3. http://www.ncbi.nlm.nih.gov/pubmed/22442437
  • Marttila, M., E. Lemola, W. Wallefeld, M. Memo, K. Donner, N. G. Laing, S. Marston, M. Gronholm, and C. Wallgren-Pettersson. 2012. ‘Abnormal actin binding of aberrant beta-tropomyosins is a molecular cause of muscle weakness in TPM2-related nemaline and cap myopathy’, The Biochemical Journal, 442: 231-9. http://www.ncbi.nlm.nih.gov/pubmed/22084935
  • Ochala, J., G. Ravenscroft, N. G. Laing, and K. J. Nowak. 2012. ‘Nemaline Myopathy-Related Skeletal Muscle alpha-Actin (ACTA1) Mutation, Asp286Gly, Prevents Proper Strong Myosin Binding and Triggers Muscle Weakness’, PLoS ONE, 7: e45923. http://www.ncbi.nlm.nih.gov/pubmed/23029319
  • Nowak, K. J., G. Ravenscroft, and N. G. Laing. 2013. ‘Skeletal muscle alpha-actin diseases (actinopathies): pathology and mechanisms’, Acta Neuropathologica, 125: 19-32. http://www.ncbi.nlm.nih.gov/pubmed/22825594
  • Ochala, J., H. Iwamoto, G. Ravenscroft, N. G. Laing, and K. J. Nowak. 2013. ‘Skeletal and cardiac alpha-actin isoforms differently modulate myosin cross-bridge formation and myofibre force production’, Hum Mol Genet, 22: 4398-404. http://www.ncbi.nlm.nih.gov/pubmed/23784376
  • Ravenscroft, G., E. McNamara, L. M. Griffiths, J. M. Papadimitriou, E. C. Hardeman, A. J. Bakker, K. E. Davies, N. G. Laing, and K. J. Nowak. 2013. ‘Cardiac alpha-actin over-expression therapy in dominant ACTA1 disease’, Hum Mol Genet, 22: 3987-97. http://www.ncbi.nlm.nih.gov/pubmed/23736297
  • Ravenscroft, G., N. G. Laing, and C. G. Bonnemann. 2015. ‘Pathophysiological concepts in the congenital myopathies: blurring the boundaries, sharpening the focus’, Brain, 138: 246-68. http://www.ncbi.nlm.nih.gov/pubmed/25552303
  • Sztal, T. E., M. Zhao, C. Williams, V. Oorschot, A. C. Parslow, A. Giousoh, M. Yuen, T. E. Hall, A. Costin, G. Ramm, P. I. Bird, E. M. Busch-Nentwich, D. L. Stemple, P. D. Currie, S. T. Cooper, N. G. Laing, K. J. Nowak, and R. J. Bryson-Richardson. 2015. ‘Zebrafish models for nemaline myopathy reveal a spectrum of nemaline bodies contributing to reduced muscle function’, Acta Neuropathologica, 130: 389-406. http://www.ncbi.nlm.nih.gov/pubmed/25931053
  • Messineo, A. M., C. Gineste, T. E. Sztal, E. L. McNamara, C. Vilmen, A. C. Ogier, D. Hahne, D. Bendahan, N. G. Laing, R. J. Bryson-Richardson, J. Gondin, and K. J. Nowak. 2018. ‘L-tyrosine supplementation does not ameliorate skeletal muscle dysfunction in zebrafish and mouse models of dominant skeletal muscle alpha-actin nemaline myopathy’, Sci Rep, 8: 11490. https://www.ncbi.nlm.nih.gov/pubmed/30065346
  • Tinklenberg, J. A., E. M. Siebers, M. J. Beatka, H. Meng, L. Yang, Z. Zhang, J. A. Ross, J. Ochala, C. Morris, J. M. Owens, N. G. Laing, K. J. Nowak, and M. W. Lawlor. 2018. ‘Myostatin inhibition using mRK35 produces skeletal muscle growth and tubular aggregate formation in wild type and TgACTA1D286G nemaline myopathy mice’, Hum Mol Genet, 27: 638-48. https://www.ncbi.nlm.nih.gov/pubmed/29293963
  • Servian-Morilla, E., M. Cabrera-Serrano, E. Rivas-Infante, A. Carvajal, P. J. Lamont, A. L. Pelayo-Negro, G. Ravenscroft, R. Junckerstorff, J. M. Dyke, S. Fletcher, A. M. Adams, F. Mavillard, M. A. Fernandez-Garcia, J. L. Nieto-Gonzalez, N. G. Laing, and C. Paradas. 2019. ‘Altered myogenesis and premature senescence underlie human TRIM32-related myopathy’, Acta Neuropathol Commun, 7: 30. https://www.ncbi.nlm.nih.gov/pubmed/30823891
  • Clayton, J. S., E. L. McNamara, H. Goullee, S. Conijn, K. Muthsam, G. C. Musk, D. Coote, J. Kijas, A. C. Testa, R. L. Taylor, A. J. O’Hara, D. Groth, C. Ottenheijm, G. Ravenscroft, N. G. Laing, and K. J. Nowak. 2020. ‘Ovine congenital progressive muscular dystrophy (OCPMD) is a model of TNNT1 congenital myopathy’, Acta Neuropathol Commun, 8: 142. https://www.ncbi.nlm.nih.gov/pubmed/32819427
  • McNamara, E. L., R. L. Taylor, J. S. Clayton, H. Goullee, K. L. Dilworth, T. Pinos, A. Brull, I. E. Alexander, L. Lisowski, G. Ravenscroft, N. G. Laing, and K. J. Nowak. 2020. ‘Systemic AAV8-mediated delivery of a functional copy of muscle glycogen phosphorylase (Pygm) ameliorates disease in a murine model of McArdle disease’, Hum Mol Genet, 29: 20-30. https://www.ncbi.nlm.nih.gov/pubmed/31511858