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SELECTED PUBLICATIONS

  1. RAVENSCROFT G*, JS Clayton, F Faiz, P Sivadorai, D Milnes, R Cincotta, P Moon, P McGrath, B Kamien, M Edwards, M Delatycki, PJ Lamont, S Chan, A Colley, A Ma, G McGillivray, S Ghedia, K Chao, A O’Donnell-Luria, NG Laing, MR Davis. (2020). Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomics. J Med Genet
    This paper describes the combined diagnostic and research findings from 81 cases with a genetic diagnosis from a cohort of 190. This includes a number of phenotype expansions for known genes and details 50 novel variants not previously associated with disease. All variants have been entered into the Leiden Open Variant Database (LOVD) such that these findings can be of clinical utility for families across the globe.
  2. CK Scriba, SJ Beecroft, JS Clayton, A Cortese, R Sullivan, WY Yau, N Dominik, M Rodrigues, E Walker, Z Dyer, TY Wu, MR Davis, DC Chandler, B Weisburd, H Houlden, MM Reilly, NG Laing, PJ Lamont, Richard H. Roxburgh, G RAVENSCROFT*. (2020). A novel RFC1 repeat motif (ACAGG) in two Asia-Pacific CANVAS families. Brain
  3. PB Martin, Y Kigoshi-Tansho, RB Sher, G RAVENSCROFT, JE Stauffer, Kumar, Ryo Yonashiro, Tina Müller, Christopher Griffith, William Allen, Davut Pehlivan, T Haral, M Zenker, D Howting, D Schanze, G Douglas, JE Posey, M Ryan, JR  Lupski, NG Laing, Claudio A.P. Joazeiro, GA Cox. NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease. Nature Commun 11(1), 4625. https://pubmed.ncbi.nlm.nih.gov/32934225/
  4. RAVENSCROFT G, Olivé M, Engvall M, , Cabrera-Serrano M, Jiao H, Bortolotti CA, Pignataro M, Lambrughi M, Jiang H, Forrest ARR, Benseny-Cases N, Hofbauer S, Obinger C, Battistuzzi G, Bellei M, Borsari M, Di Rocco G, Viola HM, Hool LC, Cladera J, Lagerstedt-Robinson K, Xiang F, Wredenberg A, Miralles F, Baiges JJ, Malfatti E, Romero NB, Streichenberger N, Vial C, Claeys KG, Straathof CSM, Goris A, Freyer C, Lammens M, Bassez G, Kere J, Clemente P, Sejersen T, Udd B, Vidal N, Ferrer I, Edström L, Wedell A, Laing NG. (2019). Myoglobinopathy is an adult-onset autosomal dominant myopathy with characteristic inclusions. Nat Commun 10(1), 1396. https://pubmed.ncbi.nlm.nih.gov/30918256/
  5. RAVENSCROFT G, Zaharieva I, Bortolotti CA, Lambrughi, M, Pignataro M, Borsari M, Sewry CA., Phadke, R., Haliloglu, G., Ong, R., Goullee, H., Whyte, T., Uk K. Consortium, Manzur A, Talim B, Kaya U, Osborn DP, Forrest A, Laing NG. (2018). Bi-allelic mutations in MYL1 cause a severe congenital myopathy. Hum Mol Genet 27, 4263-4272. https://pubmed.ncbi.nlm.nih.gov/30215711/
  6. RAVENSCROFT G, Nolent F, Rajagopalan S, Meireles AM, Paavola KJ, Gaillard D, Alanio E, Buckland M, Arbuckle S, Krivanek M, Maluenda J, Pannell S, Gooding R, Ong RW, Allcock RJ, Carvalho ED, Carvalho MD, Kok F, Talbot WS, Melki J, Laing NG. (2015) Mutations of GPR126 Are Responsible for Severe Arthrogryposis Multiplex Congenita. Am J Hum Genet 96:955-961. https://pubmed.ncbi.nlm.nih.gov/26004201/
  7. RAVENSCROFT G, Laing NG, Bonnemann CG. (2015) Pathophysiological concepts in the congenital myopathies: blurring the boundaries, sharpening the focus. Brain 138(Pt 2), 246-68. https://pubmed.ncbi.nlm.nih.gov/25552303/
  8. 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, 3529-3539. https://pubmed.ncbi.nlm.nih.gov/24960163/
  9. RAVENSCROFT G, Miyatake S, Lehtokari VL, Todd EJ, Vornanen P, Yau KS, Hayashi YK, Miyake N, Tsurusaki Y, Doi H, Saitsu H, Osaka H, Yamashita S, Ohya T, Sakamoto Y, Koshimizu E, Imamura S, Yamashita M, Ogata K, Shiina M, Bryson-Richardson RJ, Vaz R, Ceyhan O, Brownstein CA, Swanson LC, Monnot S, Romero NB, Amthor H, Kresoje N, Sivadorai P, Kiraly-Borri C, Haliloglu G, Talim B, Orhan D, Kale G, Charles AK, Fabian VA, Davis MR, Lammens M, Sewry CA, Manzur A, Muntoni F, Clarke NF, North KN, Bertini E, Nevo Y, Willichowski E, Silberg IE, Topaloglu H, Beggs AH, Allcock RJ, Nishino I, Wallgren-Pettersson C, Matsumoto N, Laing NG. (2013) Mutations in KLHL40 Are a Frequent Cause of Severe Autosomal-Recessive Nemaline Myopathy. Am J Hum Genet 93(1):6-18. https://pubmed.ncbi.nlm.nih.gov/23746549/
  10. 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 134:1101-1115. https://pubmed.ncbi.nlm.nih.gov/21303860/

For a complete list of publications please visit https://research-repository.uwa.edu.au/en/persons/gina-ravenscroft