Bioinformatics-based identification of expanded repeats:a non-reference intronic pentamer expansion in RFC1 causes CANVAS

- Rafehi, Haloom, Szmulewicz, David J., Barcina, Maria Garcia, Breen, David P., Chancellor, Andrew M., Cremer, Phillip D., Delatycki, Martin B., Fogel, Brent L., Hackett, Anna, Halmagyi, G. Michael, Kapetanovic, Solange, Lang, Anthony, Bennett, Mark F., Mossman, Stuart, Mu, Weiyi, Patrikios, Peter, Perlman, Susan L., Rosemergy, Ian, Storey, Elsdon, Watson, Shaun R. D., Wilson, Michael A., Zee, David S., Valle, David, Sobreira, Nara L. M., Amor, David J., Bahlo, Melanie, Lockhart, Paul J., Pope, Kate, Smith, Katherine R., Gillies, Greta, Diakumis, Peter, Dolzhenko, Egor, Eberle, Michael A.

Prevalence of PALB2 mutations in Australian familial breast cancer cases and controls

- Thompson, Ella R., Gorringe, Kylie L., Lupat, Richard, Delatycki, Martin B., LifePool Investigators,, Mitchell , Gillian, James , Paul A., Scott, Rodney J., Campbell, Ian G., Rowley, Simone M., Wong-Brown, Michelle W., McInerny, Simone, Li, Na, Trainer, Alison H., Devereux, Lisa, Doyle, Maria A., Li, Jason