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
- Creator: 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
- Resource Type: journal article
- Date: 2023
Clinical Progress in Gold Nanoparticle (GNP)-mediated Photothermal Cancer Therapy
- Creator: Palaniappan, Kavitha
- Resource Type: journal article
- Date: 2023
Combined burden and functional impact tests for cancer driver discovery using DriverPower
- Creator: 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.
- Resource Type: journal article
- Date: 2020
Genomic investigation of inherited thrombotic microangiopathy-aHUS and TTP
- Creator: Enjeti, Anoop K. , de Malmanche, Theo , Chapman, Kent , Ziolkowski, Andrew
- Resource Type: journal article
- Date: 2020
Integrative pathway enrichment analysis of multivariate omics data
- Creator: 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.
- Resource Type: journal article
- Date: 2020
Pan-cancer analysis of whole genomes
- Creator: 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
- Resource Type: journal article
- Date: 2020
Pathway and network analysis of more than 2500 whole cancer genomes
- Creator: 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
- Resource Type: journal article
- Date: 2020
Two truncating variants in FANCC and breast cancer risk
- Creator: 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
- Resource Type: journal article
- Date: 2019
BRCA1/2 mutations are not a common cause of malignant melanoma in the Polish population
- Creator: 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
- Resource Type: journal article
- Date: 2018
Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes
- Creator: 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.
- Resource Type: journal article
- Date: 2015
Characterisation of mitochondrial DNA deletions by long-PCR in central nervous system regions of young, middle- and old-aged rats
- Creator: Cahif, Ashley , Parkinson, Gemma M. , Dayas, Christopher V. , Smith, Doug W.
- Resource Type: journal article
- Date: 2013
Mutation of vertex-magic regular graphs
- Creator: Kimberley, J. S. , MacDougall, J. A.
- Resource Type: journal article
- Date: 2012
A high-throughput protocol for mutation scanning of the BRCA1 and BRCA2 genes
- Creator: Hondow, Heather L. , Fox, Stephen B. , Mitchell, Gillian , Scott, Rodney J. , Beshay, Victoria , Wong, Stephen Q. , kConFab Investigators, , Dobrovic, Alexander
- Resource Type: journal article
- Date: 2011
BRAF and NRAS mutational status are prognostically important in thick and locally advanced cutaneous melanoma
- Creator: Vilain, R. , Braye, S. G. , Ashman, L. , Scott, R. J.
- Resource Type: conference paper
- Date: 2011
MSH6 and PMS2 mutation positive Australian Lynch syndrome families: novel mutations, cancer risk and age of diagnosis of colorectal cancer
- Creator: Talseth-Palmer, Bente A. , McPhillips, Mary , Groombridge, Claire , Spigelman, Allan , Scott, Rodney J.
- Resource Type: journal article
- Date: 2010
Capturing all disease-causing mutations for clinical and research use: toward an effortless system for the Human Variome Project
- Creator: 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.
- Resource Type: journal article
- Date: 2009
Clinical, genetic, and enzymatic characterization of P450 oxidoreductase deficiency in four patients
- Creator: Sahakitrungruang, Taninee , Huang, Ningwu , Tee, Meng Kian , Agrawal, Vishal , Russell, William E. , Crock, Patricia , Murphy, Nuala , Migeon, Claude J. , Miller, Walter L.
- Resource Type: journal article
- Date: 2009
Flecainide prevents catecholaminergic polymorphic ventricular tachycardia in mice and humans
- Creator: 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.
- Resource Type: journal article
- Date: 2009
Genetic variants in MUTYH are not associated with endometrial cancer risk
- Creator: Ashton, Katie A. , Proietto, Anthony , Otton, Geoffrey , Symonds, Ian , Scott, Rodney J.
- Resource Type: journal article
- Date: 2009
Vertex-magic labelings: mutations
- Creator: Gray, I. D. , MacDougall, James A.
- Resource Type: journal article
- Date: 2009