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Group Publications associated with Reproductive Carrier Screening

  • Laing NG, Siddique T, Bartlett RJ, Yamaoka LH, Hung WY, Pericak-Vance MA, Roses AD. (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 NG, Mears ME, Chandler DC, Layton MG, Thomas HE, Johnsen RD, Goldblatt J, Kakulas BA. (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 NG. (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 NG. (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 CM, Lister K, Metternick-Jones S, Baynam G, Clarke AJ, Straub V, Dawkins HJ, Laing N. (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, Howting D, Rea A, Christian H, Charman P, Molster C, Ravenscroft G, Laing NG. (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 MB, Laing N, Kirk E. (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, Laing NG, Moore SJ, Emery J, Archibald AD, Massie J, Kirk EP. (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 MB, Alkuraya F, Archibald A, Castellani C, Cornel M, Grody WW, Henneman L, Ioannides AS, Kirk E, Laing N, Lucassen A, Massie J, Schuurmans J,  Thong MK, van Langen I, Zlotogora J. (2020). International perspectives on the implementation of reproductive carrier screening. Prenat Diagn, 40: 301-10. https://www.ncbi.nlm.nih.gov/pubmed/31774570
  • Kirk EP, Ong R, Boggs K, Hardy T, Righetti S, Kamien B, Roscioli T, Amor DJ, Bakshi M, Chung CWT, Colley A, Jamieson RV, Liebelt J , Ma A, Pachter N, Rajagopalan S, Ravine A, Wilson M, Caruana J, Casella R, Davis M, Edwards S, Archibald A, McGaughran J, Newson AJ, Laing NG, Delatycki MB. (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, Thompson EM, Todd EJ, Yau KS, Kresoje N, Sivadorai P, Friend K, Riley K, Manton ND, Blumbergs P, Fietz M, Duff RM, Davis MR, Allcock RJ, Laing NG. (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, Cooper ST, Lek M, Jones K, Corbett A, Reddel SW, Needham M, Liang C, Waddell LB, Nicholson G, O’Grady G, Kaur S, Ong R, Davis MR, Sue CM, Laing NG, North KN, MacArthur DG, Clarke NF. (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 EJ, Yau KS, Ong R, Slee J, McGillivray G, Barnett CP, Haliloglu G, Talim B, Akcoren Z, Kariminejad A, Cairns A, Clarke NF, Freckmann ML, Romero NB, Williams D, Sewry CA, Colley A, Ryan MM, Kiraly-Borri C, Sivadorai P, Allcock RJ, Beeson D, Maxwell S, Davis MR, Laing NG, Ravenscroft G. (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 GL, Lek M, Lamande SR, Waddell L, Oates EC, Punetha J, Ghaoui R, Sandaradura SA, Best H, Kaur S, Davis M, Laing NG, Muntoni F, Hoffman E, MacArthur MG, Clarke NF, Cooper S, North K. (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 BB, Marshall JL, Tukiainen T, Lek M, Donkervoort S, Foley AR, Bolduc V, Waddell LB, Sandaradura SA, O’Grady GL, Estrella E, Reddy HM, Zhao F, Weisburd B, Karczewski KJ, O’Donnell-Luria AH, Birnbaum D, Sarkozy A, Hu Y, Gonorazky H, Claeys K, Joshi H, Bournazos A, Oates EC, Ghaoui R, Davis MR, Laing NG, ATopf, Consortium Genotype-Tissue Expression, Kang PB, Beggs AH, North KN, Straub V, Dowling JJ, Muntoni F, Clarke NF, Cooper ST, Bonnemann CG, MacArthur DG. (2017). Improving genetic diagnosis in Mendelian disease with transcriptome sequencing. Sci Transl Med, 9. https://www.ncbi.nlm.nih.gov/pubmed/28424332
  • Ravenscroft G, Davis MR, Lamont P, Forrest A, Laing NG. (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, Alam K, Douglas L, Shrestha R, MacArthur DG, Davis M, Laing NG, Clarke NF, Burns J, Cooper ST, North KN, Sandaradura SA, O’Grady GL. (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 SJ, Lombard M, Mowat D, McLean C, Cairns A, Davis M, Laing NG, Ravenscroft G. (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, Lek M, Phipson B, Halman A, Sadedin S, Lonsdale A, Davis M, Lamont P, Clayton JS, Laing MG, MacArthur DG, Oshlack A. (2018). STRetch: detecting and discovering pathogenic short tandem repeat expansions. Genome biology, 19: 121. https://www.ncbi.nlm.nih.gov/pubmed/30129428
  • Oates EC, Jones KJ, Donkervoort S, Charlton A, Brammah S, Smith III JE, Ware JS, Yau KS, Swanson LC, Whiffin N, // Farrar MA, Sampaio HA, Teoh HL, Lamont PJ, // Cooper ST, Kamsteeg EJ, Hoffman EP, Bushby K, Straub V, Udd B, Ferreiro A, North KN, Clarke NF, Lek M, Beggs AH, Bonnemann CG, MacArthur DG, Granzier H, Davis MR, NG Laing. (2018). Congenital Titinopathy: Comprehensive characterization and pathogenic insights. Ann Neurol, 83: 1105-24 https://www.ncbi.nlm.nih.gov/pubmed/29691892
  • Bryen SJ, Joshi H, Evesson FJ, Girard C, Ghaoui R, Waddell LB, Testa AC, Cummings B, Arbuckle S, Graf N, Webster R, MacArthur DG, Laing NG, Davis MR, Luhrmann R, Cooper ST. (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 SJ, Yau KS, Allcock RJN, Mina K, Gooding R, Faiz F, Atkinson VJ, Wise C, Sivadorai P, Trajanoski D, Kresoje N, Ong R, Duff RM, Cabrera-Serrano M, Nowak KJ, Pachter N, Ravenscroft G, Lamont PJ, Davis MR, Laing NG. (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
  • Cortese A, Tozza S, Yau WY, Rossi S, Beecroft SJ, Jaunmuktane Z, Dyer Z, Ravenscroft G, Lamont PJ, Mossman S, Chancellor A, Maisonobe T, Pereon Y, Cauquil C, Colnaghi S, Mallucci G, Curro R, Tomaselli PJ, Thomas-Black G, Sullivan R, Efthymiou S, Rossor AM, Laura M, Pipis M, Horga A, Polke J, Kaski D, Horvath R, Chinnery PF, Marques W, Tassorelli C, Devigili G, Leonardis L, Wood NW, Bronstein A, Giunti P, Zuchner S, Stojkovic T, Laing NG, Roxburgh RH, Houlden H, Reilly MM. (2020). Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion. Brain, 143: 480-90. https://www.ncbi.nlm.nih.gov/pubmed/32040566
  • Timberlake AT, Griffin C, Heike CL, Hing AV, Cunningham ML, Chitayat D, Davis MR, Doust SJ, Drake AF, Duenas-Roque MM, Goldblatt J, Gustafson JA, Hurtado-Villa P, Johns A, Karp N, Laing NG, Magee L, Genomics University of Washington Center for Mendelian, Mullegama SV, Pachajoa H, Porras-Hurtado GL, Schnur RE, Slee J, Singer SL, Staffenberg DA, Timms AE, Wise CA, Zarante I, Saint-Jeannet JP, Luquetti DV. (2021). Haploinsufficiency of SF3B2 causes craniofacial microsomia. Nat Commun, 12: 4680. https://www.ncbi.nlm.nih.gov/pubmed/34344887
  • Pellerin D, Danzi MC, Wilke C, Renaud M, Fazal S, Dicaire MJ, Scriba CK, Ashton C, Yanick C, Beijer D, Rebelo A, Rocca C, Jaunmuktane Z, Sonnen JA, Lariviere R, Genis D, MolinaPorcel L, Choquet K, Sakalla R, Provost S, Robertson R, Allard-Chamard X, Tetreault M, Reiling SJ, Nagy S, Nishadham V, Purushottam M, Vengalil S, Bardhan M, Nalini A, Chen Z, Mathieu J, Massie R, Chalk CH, Lafontaine AL, Evoy F, Rioux MF, Ragoussis J, Boycott KM, Dube MP, Duquette A, Houlden H, Ravenscroft G, Laing NG, Lamont PJ, Saporta MA, Schule R, Schols L, LaPiana R, Synofzik M, Zuchner S, Brais B. (2023). Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia. N Engl J Med, 388: 128-41. https://www.ncbi.nlm.nih.gov/pubmed/36516086

Group publications associated with Development of Treatments for Genetic Muscle Diseases

  • Nowak KJ, Ravenscroft G, Jackaman C, Filipovska A, Davies SM, Lim EM, Squire SE, Potter AC, Baker E, Clement S, Sewry CA, Fabian V, Crawford K, Lessard JL, Griffiths LM, Papadimitriou JM, Shen Y, Morahan G, Bakker AJ, Davies KE, Laing NG. (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, Jackaman C, Bringans S, Papadimitriou JM, Griffiths LM, McNamara E, Bakker AJ, Davies KE, Laing NG, Nowak KJ. (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 RK, Jayawant S, Squier W, Muntoni F, Sewry CA, Manzur A, Quinlivan R, Lillis S, Jungbluth H, Sparrow JC, Ravenscroft G, Nowak KJ, Memo M, Marston SB, Laing NG. (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, Lemola E, Wallefeld W, Memo M, DonnerK, Laing NG, Marston S, Gronholm M, Wallgren-Pettersson C. (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, Ravenscroft G, Laing NG, Nowak KJ. (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 KJ, Ravenscroft G, Laing NG. (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, Iwamoto H, Ravenscroft G, Laing NG, Nowak KJ. (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, McNamara E, Griffiths LM, Papadimitriou JM, Hardeman EC, Bakker AJ, Davies KE, Laing NG, Nowak KJ. (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
  • Garg A, O’Rourke J, Long C, Doering J, Ravenscroft G, Bezprozvannaya S, Nelson BR, Beetz N, Li L, Chen S, Laing NG, Grange RW, Bassel-Duby R, Olson EN. (2014). KLHL40 deficiency destabilizes thin filament proteins and promotes nemaline myopathy. J Clin Invest, 124: 3529-39. http://www.ncbi.nlm.nih.gov/pubmed/24960163
  • Ravenscroft G, Laing NG, Bonnemann CG. (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 TE, Zhao M, Williams C, Oorschot V, Parslow AC, Giousoh A, Yuen M, Hall TE, Costin A, Ramm G, Bird PI, Busch-Nentwich EM, Stemple DL, Currie PD, Cooper ST, Laing NG, Nowak KJ, Bryson-Richardson RJ. (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 AM, Gineste C, Sztal TE, McNamara EL, Vilmen C, Ogier AC, Hahne D, Bendahan D, Laing NG, Bryson-Richardson RJ, Gondin J, Nowak KJ. (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 JA, Siebers EM, Beatka MJ, Meng H, Yang L, Zhang Z, Ross JA, Ochala J, Morris C, Owens JM, Laing NG, Nowak KJ, Lawlor MW. (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, Cabrera-SerranoM, Rivas-Infante E, Carvajal A, Lamont PJ, Pelayo-Negro AL, Ravenscroft G, Junckerstorff R, Dyke JM, Fletcher S, Adams AM, Mavillard F, Fernandez-Garcia MA, Nieto-Gonzalez JL, Laing NG, Paradas C. (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 JS, McNamara EL, Goullee H, Conijn S, Muthsam K, Musk GC, Coote D, Kijas J, Testa AC, Taylor RL, O’Hara AJ, Groth D, Ottenheijm C, Ravenscroft G, Laing NG, Nowak KJ. (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 EL, Taylor RL, Clayton JS, Goullee H, Dilworth KL, Pinos T, Brull A, Alexander IE, Lisowski L, Ravenscroft G, Laing NG, Nowak KJ. (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