A cryptic microdeletion del(12)(p11.21p11.23) within an unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndrome

- Ben-Mahmoud, Afif, Kishikawa, Shotaro, Gupta, Vijay, Leach, Natalie T., Shen, Yiping, Moldovan, Oana, Goel, Himanshu, Hopper, Bruce, Ranguin, Kara, Gruchy, Nicolas, Maas, Saskia M., Lacassie, Yves, Kim, Soo-Hyun, Kim, Woo-Yang, Quade, Bradley J., Morton, Cynthia C., Kim, Cheol-Hee, Layman, Lawrence C., Kim, Hyung-Goo

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

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.

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.

BRCA1/2 mutations are not a common cause of malignant melanoma in the Polish population

- Debniak, Tadeusz, Scott, Rodney J., Malinska, Karolina, Kiedrowicz, Magdalena, Rogoza-Janiszewska, Emilia, Rudnicka, Helena, Deptula, Jakub, Domagala, Paweo, Kluzniak, Wojciech, Lener, Marcin R., Lubinski, Jan, Górski, Bohdan, Masojc, Bartoomiej, Kram, Andrzej, Maleszka, Romuald, Cybulski, Cezary, Paszkowska-Szczur, Katarzyna, Kashyap, Aniruddh, Murawa, Dawid

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.

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.

Clinical Progress in Gold Nanoparticle (GNP)-mediated Photothermal Cancer Therapy

- Palaniappan, Kavitha

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.

Combined burden and functional impact tests for cancer driver discovery using DriverPower

- Shuai, Shimin, Abascal, Federico, Carlevaro-Fita, Joana, Chakravarty, Dimple, Chan, Calvin Wing Yiu, Chen, Ken, Choi, Jung Kyoon, Deu-Pons, Jordi, Dhingra, Priyanka, Diamanti, Klev, Feuerbach, Lars, Fink, J. Lynn, Amin, Samirkumar B., Scarlett, Christopher J., Frigola, J, Gambacorti-Passerini, C, Garsed, DW, Getz, G, Guo, Q, Gut, IG, Bader, Gary D., Bandopadhayay, Pratiti, Beroukhim, Rameen, Bertl, Johanna, Boroevich, Keith A., Brunak, Søren, Campbell, Peter J.

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.

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.

Genomic investigation of inherited thrombotic microangiopathy-aHUS and TTP

- Enjeti, Anoop K., de Malmanche, Theo, Chapman, Kent, Ziolkowski, Andrew

Integrative pathway enrichment analysis of multivariate omics data

- Paczkowska, Marta, Barenboim, Jonathan, Bader, Gary D., Beroukhim, Rameen, Bertl, Johanna, Boroevich, Keith A., Brunak, Søren, Campbell, Peter J., Carlevaro-Fita, Joana, Chakravarty, Dimple, Chan, Calvin Wing Yiu, Chen, Ken, Sintupisut, Nardnisa, Choi, Jung Kyoon, Scarlett, Christopher J., Fox, Natalie S., Zhu, Helen, Abd-Rabbo, Diala, Mee, Miles W., Boutros, Paul C., Abascal, Federico, Armin, Samirkumar B.

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.

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.

Mutation of vertex-magic regular graphs

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

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.

Pan-cancer analysis of whole genomes

- Campbell, Peter J., Getz, Gad, Korbel, Jan O., Stuart, Joshua M., Jennings, Jennifer L., Stein, Lincoln D., Perry, Marc D., Nahal-Bose, Hardeep K., Francis Ouellette, Bose B.F., Li, Constance H., Rheinbay, Esther, Nielsen, G. Petur, Sgroi, Dennis C., Wu, Chin-Lee, Faquin, William C., Deshpande, Vikram, Boutros, Paul C., Lazar, Alexander J., Hoadley, Katherine A., Louis, David N., Scarlett, Christopher J., Dursi, L. Jonathan, Yung, CK, Bailey, MH, Saksena, G, Raine, KM, Buchhalter, I, Kleinheinz, K, Schlesner, M, Zhang, J, Wang, W, Wheeler, DA, Ding, L, Simpson, JT, O'Connor, BD, Yakneen, S, Ellrott, K, Miyoshi, N, Butler, AP, Royo, R, Shorser, SI, Vazquez, M, Rausch, T, Tiao, G, Waszak, SM, Rodriguez-Martin, B, Shringarpure, S, Wu, DY, Demidov, GM, Delaneau, O, Hayashi, S, Imoto, S, Habermann, N, Segre, AV, Garrison, E, Cafferkey, A, Alvarez, EG, Heredia-Genestar, JM, Muyas, F, Drechsel, O, Bruzos, AL, Temes, J, Zamora, J, Baez-Ortega, A, Kim, HL, Mashl, RJ, Ye, K, DiBiase, A, Huang, KL, Letunic, I, McLellan, MD, Newhouse, SJ, Shmaya, T, Kumar, S, Wedge, DC, Wright, MH, Yellapantula, VD, Gerstein, M, Khurana, E, Marques-Bonet, T, Navarro, A, Bustamante, CD, Siebert, R, Nakagawa, H, Easton, DF, Ossowski, S, Tubio, JMC, De La Vega, FM, Estivill, X, Yuen, D, Mihaiescu, GL, Omberg, L, Ferretti, V, Sabarinathan, R, Pich, O, Gonzalez-Perez, A, Taylor-Weiner, A, Fittall, MW, Demeulemeester, J, Tarabichi, M, Roberts, ND