Juxtamembrane mutant V560GKit is more sensitive to Imatinib (ST1571) compared with wild-type c-Kit whereas the kinase domain mutant D816VKit is resistant

- Frost, Michelle J., Ferrao, Petranel T., Hughes, Timothy P., Ashman, Leonie K.

An in vivo tumor model exploiting metabolic response as a biomarker for targeted drug development

- Cullinane, C., Dorow, D. S., Kansara, M., Conus, N., Binns, D., Hicks, R. J., Ashman, Leonie K., McArthur, G. A., Thomas, D. M.

Comparison of genomic abnormalities between BRCAX and sporadic breast cancers studied by comparative genomic hybridization

- Gronwald, J., Jauch, A., Cybulski, C., Schoell, B., Bohm-Steuer, B., Lener, M., Grabowska, E., Gorski, B., Jakubowska, A., Domagala, W., Chosia, M., Scott, Rodney J, Lubinski, J.

Occurrence of c-kit+ tumor cells in hepatitis B virus-associated hepatocellular carcinoma

- Lee, Eung Seok, Han, Eun Mee, Kim, Young-Sik, Shin, Bong Kyung, Kim, Chul Hwan, Kim, Han Kyeom, Won, Nam Hee, Yeom, Bon Woo, Kim, Insun, Leong, Anthony S.-Y.

SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome

- Gilfillan, Gregor D., Selmer, Kaja K., Sjøholm, Hans, Server, Andres, Samuelsson, Lena, Christianson, Arnold, Tarpey, Patrick, Whibley, Annabel, Stratton, Michael R., Futreal, P. Andrew, Teague, Jon, Edkins, Sarah, Roxrud, Ingrid, Gecz, Jozef, Turner, Gillian, Raymond, F. Lucy, Schwartz, Charles, Stevenson, Roger E., Undlien, Dag E., Strømme, Petter, Smith, Raffaella, Kyllerman, Mårten, Eiklid, Kristin, Kroken, Mette, Mattingsdal, Morten, Egeland, Thore, Stenmark, Harald

Capturing all disease-causing mutations for clinical and research use: toward an effortless system for the Human Variome Project

- Cotton, Richard G. H., Al Aqeel , Aida I., Patrinos, George P., Qi, Ming, Ramesar, Rajkumar S., Scott, Rodney J., Sijmons, Rolf H., Sobrido, Maria-Jesus, Vihinen, Mauno, Al-Mulla, Fahd, Carrera, Paola, Claustres, Mireille, Ekong, Rosemary, Hyland, Valentine J., Macrae, Finlay A., Marafie, Makia J., Paalman, Mark H.

Clinical, genetic, and enzymatic characterization of P450 oxidoreductase deficiency in four patients

- Sahakitrungruang, Taninee, Huang, Ningwu, Tee, Meng Kian, Agrawal, Vishal, Russell, William E., Crock, Patricia, Murphy, Nuala, Migeon, Claude J., Miller, Walter L.

Flecainide prevents catecholaminergic polymorphic ventricular tachycardia in mice and humans

- Watanabe, Hiroshi, Chopra, Nagesh, Laver, Derek, Hwang, Hyun Seok, Davies, Sean S., Roach, Daniel E., Duff, Henry J., Roden, Dan M., Wilde, Arthur A. M., Knollmann, Björn C.

Genetic variants in MUTYH are not associated with endometrial cancer risk

- Ashton, Katie A., Proietto, Anthony, Otton, Geoffrey, Symonds, Ian, Scott, Rodney J.

Vertex-magic labelings: mutations

- Gray, I. D., MacDougall, James A.

MSH6 and PMS2 mutation positive Australian Lynch syndrome families: novel mutations, cancer risk and age of diagnosis of colorectal cancer

- Talseth-Palmer, Bente A., McPhillips, Mary, Groombridge, Claire, Spigelman, Allan, Scott, Rodney J.

A high-throughput protocol for mutation scanning of the BRCA1 and BRCA2 genes

- Hondow, Heather L., Fox, Stephen B., Mitchell, Gillian, Scott, Rodney J., Beshay, Victoria, Wong, Stephen Q., kConFab Investigators,, Dobrovic, Alexander

BRAF and NRAS mutational status are prognostically important in thick and locally advanced cutaneous melanoma

- Vilain, R., Braye, S. G., Ashman, L., Scott, R. J.

Mutation of vertex-magic regular graphs

- Kimberley, J. S., MacDougall, J. A.

Characterisation of mitochondrial DNA deletions by long-PCR in central nervous system regions of young, middle- and old-aged rats

- Cahif, Ashley, Parkinson, Gemma M., Dayas, Christopher V., Smith, Doug W.

Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes

- Oegema, Renske, Cushion, Thomas D., Dobyns, William B., Ishak, Gisele E., Rees, Mark I., Doherty, Dan, Phelps, Ian G., Chung, Seo-Kyung, Dempsey, Jennifer C., Collins, Sarah, Mullins, Jonathan G. L., Dudding, Tracy, Gill, Harinder, Green, Andrew J.