Find Experts

Experts in Genetics
Sanjay Gupta Aimée M. Dudley David Buchanan Drena Dobbs Karin S Dorman Dr. Xun Gu Thomas Peterson IRFAN AHMAD ANSARI John Golin Jannice Friedman Vimla Aggarwal Andrea Rinaldi Carmen Argmann Eleanor Maine Albertini Alessandra Judith Greenberg Mark Clark John F. Hayes Ashok Kumar Roger I. Cue View More
Dr Alison Compton

professor
Genetics
Murdoch Childrens Research Institute
Australia

Professor Genetics
Biography

Dr Compton leads the Gene Discovery group in David Thorburn's lab and has established a substantial national and international profile in the field of mitochondrial disease gene discovery and incorporation of new technologies into genetic diagnosis. She has published 23 peer reviewed research papers predominantly on these topics. Of particular note are her joint first authored papers using Massively parallel sequencing for patient diagnosis in Nature Genetics (Oct 2010) and Science Translational Medicine (Jan 2012). Both these highly cited papers (176 and 155 citations in Scopus, respectively) received nomination by the Faculty of 1000, the Science Translational Medicine paper and was also named in January 2012 as the “Genome Advance of the Month" by National Institutes of Health. To date, Dr Compton's work has lead to the publication of 13 novel disease genes.

Research Intrest

Genetics

List of Publications
Tucker EJ, Hershman SG, Köhrer C, Belcher-Timme CA, Patel J, Goldberger OA, Christodoulou J, Silberstein JM, McKenzie M, Ryan MT, Compton AG. Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation. Cell metabolism. 2011 Sep 7;14(3):428-34.
Riley LG, Cooper S, Hickey P, Rudinger-Thirion J, McKenzie M, Compton A, Lim SC, Thorburn D, Ryan MT, Giegé R, Bahlo M. Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia—MLASA syndrome. The American Journal of Human Genetics. 2010 Jul 9;87(1):52-9.
Calvo SE, Tucker EJ, Compton AG, Kirby DM, Crawford G, Burtt NP, Rivas M, Guiducci C, Bruno DL, Goldberger OA, Redman MC. High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency. Nature genetics. 2010 Oct 1;42(10):851-8.
Experts in Australia
Catherine Abbott Dr Wendy Abigail Dr Meera Agar Dr Deb Agnew Dr Carol Aldous Dr Patrick Allington Dr Catherine Attard Luciano Beheregaray Corey Bradshaw Melissa Brown Louise Allen Carolyn Bailey Dr Louise Morin Dr Gavin Hunter Dr Tomasz Bednarz Dr Jason Dowling Ms Carly Siebentritt Dr Steve Rintoul Dr Ron Hoeke Dr Lev Bodrossy Dr Susan Wijffels Dr Olly Berry Dr Erin Bubner Leigh Burgoyne Karen Burke Da Silva View More