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

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

- Palaniappan, Kavitha

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.

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.

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

Pathway and network analysis of more than 2500 whole cancer genomes

- Reyna, Matthew A., Haan, David, Shrestha, Raunak, Getz, Gad, Lawrence, Michael S., Pedersen, Jakob Skou, Rubin, Mark A., Wheeler, David A., Brunak, Søren, Izarzugaza, Jose M. G., Khurana, Ekta, Marchal, Kathleen, Paczkowska, Marta, von Mering, Christian, Sahinalp, SC, Valencia, A, Reimand, J, Stuart, JM, Raphael, BJ, Scarlett, Christopher J., Verbeke, Lieven P. C., Vazquez, Miguel, Kahraman, Abdullah, Pulido-Tamayo, Sergio, Barenboim, Jonathan, Wadi, Lina, Dhingra, Priyanka

Two truncating variants in FANCC and breast cancer risk

- Dörk, Thilo, Peterlongo, Paolo, Aronson, Kristan J., Menon, U, Milne, RL, Taib, NAM, Muir, K, Mulligan, AM, Neuhausen, SL, Nevanlinna, H, Neven, P, Newman, WG, Offit, K, Augustinsson, Annelie, Olopade, O, Olshan, AF, Olson, JE, Olsson, H, Park, SK, Park-Simon, T-W, Peto, J, Plaseska-Karanfilska, D, Pohl-Rescigno, E, Presneau, N, Freeman, Laura E. Beane, Rack, B, Radice, P, Rashid, MU, Rennert, G, Rennert, HS, Romero, A, Ruebner, M, Saloustros, E, Schmidt, MK, Schmutzler, RK, Beckmann, Matthias W., Schneider, MO, Schoemaker, MJ, Scott, C, Shen, C-Y, Shu, X-O, Simard, J, Slager, S, Smichkoska, S, Southey, MC, Spinelli, JJ, Beeghly-Fadiel, Alicia, Stone, J, Surowy, H, Swerdlow, AJ, Tamimi, RM, Tapper, WJ, Teo, SH, Terry, MB, Toland, AE, Tollenaar, RAEM, Torres, D, Behrens, Sabine, Torres-Mejia, G, Troester, MA, Truong, T, Tsugane, S, Untch, M, Vachon, CM, van den Ouweland, AMW, van Veen, EM, Vijai, J, Wendt, C, Bermisheva, Marina, Wolk, A, Yu, J-C, Zheng, W, Ziogas, A, Ziv, E, Dunning, AM, Pharoah, PDP, Schindler, D, Devilee, P, Easton, DF, Blomqvist, Carl, Balleine, R, Baxter, R, Braye, S, Carpenter, J, Dahlstrom, J, Forbes, John, Lee, CS, Marsh, D, Morey, A, Pathmanathan, N, Bogdanova, Natalia V., Scott, Rodney, Simpson, P, Spigelman, A, Wilcken, N, Yip, D, Zeps, N, Borresen-Dale, A-L, Alnaes, GIG, Sahlberg, KK, Ottestad, L, Bojesen, Stig E., Karesen, R, Schlichting, E, Holmen, MM, Sauer, T, Haakensen, V, Engebraten, O, Naume, B, Fossa, A, Kiserud, CE, Reinertsen, K, Mannermaa, Arto, Brauch, H, Helland, A, Riis, M, Geisler, J, Brenner, H, Burwinkel, B, Canzian, F, Chan, TL, Chang-Claude, J, Chanock, SJ, Choi, J-Y, Christiansen, H, Clarke, CL, Bolla, Manjeet K., Couch, FJ, Czene, K, Daly, MB, dos-Santos-Silva, I, Dwek, M, Eccles, DM, Ekici, AB, Eriksson, M, Evans, DG, Fasching, PA, Wang, Qin, Figueroa, J, Flyger, H, Fritschisl, L, Gabrielson, M, Gago-Dominguez, M, Gao, C, Gapstur, SM, Garcia-Closas, M, Garcia-Saenz, JA, Gaudet, MM, Dennis, Joe, Giles, GG, Goldberg, MS, Goldgar, DE, Guenel, P, Haeberle, L, Haiman, CA, Hakansson, N, Hall, P, Hamann, U, Hartman, M, Ahearn, Thomas, Hauke, J, Hein, A, Hillemanns, P, Hogervorst, FBL, Hooning, MJ, Hopper, JL, Howell, T, Huo, D, Ito, H, Iwasaki, M, Andrulis, Irene L., Jakubowska, A, Janni, W, John, EM, Jung, A, Kaaks, R, Kang, D, Kapoor, PM, Khusnutdinova, E, Kim, S-W, Kitahara, CM, Anton-Culver, Hoda, Koutros, S, Kraft, P, Kristensen, VN, Kwon, A, Lambrechts, D, Le Marchand, L, Li, J, Lindstrom, S, Linet, M, Lo, W-Y, Arndt, Volker, Long, J, Lophatananon, A, Lubinski, J, Manoochehri, M, Manoukian, S, Margolin, S, Martinez, E, Matsuo, K, Mavroudis, D, Meindl, A

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

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.

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.

Mutation of vertex-magic regular graphs

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

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.

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.

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.