Identification of endothelin-converting enzyme-2 as an autoantigen in autoimmune polyendocrine syndrome type 1
- Creator: Smith-Anttila, Casey J. A. , Bensing, Sophie , Fransson, Anette , Nordmark, Gunnel , Rönnblom, Lars , Meloni, Antonella , Scott, Rodney J. , Hökfelt, Tomas , Crock, Patricia A. , Kämpe, Olle , Alimohammadi, Mohammad , Dalin, Frida , Oscarson, Mikael , Zhang, Ming-Dong , Perheentupa, Jaakko , Husebye, Eystein S. , Gustafsson, Jan , Björklund, Peyman
- Resource Type: journal article
- Date: 2017
PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS
- Creator: Southey, Melissa C. , Goldgar, David E. , Heikkinen, Tuomas , Nevanlinna, Heli , Hopper, John L. , Dörk, Thilo , Claes, Kathleen B. M. , Reis-Filho, Jorge , Teo, Zhi Ling , Radice, Paolo , Catucci, Irene , Peterlongo, Paolo , Winqvist, Robert , Tsimiklis, Helen , Odefrey, Fabrice A. , Dowty, JG , Schmidt, MK , Broeks, A , Hogervorst, FB , Verhoef, S , Carpenter, J , Clarke, C , Scott, Rodney J. , Pylkäs, Katri , Fasching, PA , Haeberle, L , Ekici, AB , Beckmann, MW , Peto, J , dos-Santos-Silva, I , Fletcher, O , Johnson, N , Bolla, MK , Sawyer, EJ , Couch, Fergus , Tomlinson, I , Kerin, MJ , Miller, N , Marme, F , Burwinkel, B , Yang, R , Guénel, P , Truong, T , Menegaux, F , Sanchez, M , Tischkowitz, Marc , Bojesen, S , Nielsen, SF , Flyger, H , Benitez, J , Zamora, MP , Perez, JIA , Menéndez, P , Anton-Culver, H , Neuhausen, S , Ziogas, A , Foulkes, William D. , Clarke, CA , Brenner, H , Arndt, V , Stegmaier, C , Brauch, H , Brüning, T , Ko, YD , Muranen, TA , Aittomäki, K , Blomqvist, C , Dennis, Joe , Bogdanova, NV , Antonenkova, NN , Lindblom, A , Margolin, S , Mannermaa, A , Kataja, V , Kosma, VM , Hartikainen, JM , Spurdle, AB , Michailidou, Kyriaki , van Rensburg, Elizabeth J.
- Resource Type: journal article
- Date: 2016
Genome-wide association study identifies a common variant associated with risk of endometrial cancer
- Creator: Spurdle, Amanda B. , Thompson, Deborah J. , Fahey, Paul , Montgomery, Grant W. , Webb, Penelope M. , Fasching, Peter A. , Beckmann, Matthias W. , Ekici, Arif B. , Hein, Alexander , Lambrechts, Diether , Coenegrachts, Lieve , Vergote, Ignace , Ahmed, Shahana , Amant, Frederic , Salvesen, Helga B. , Trovik, Jone , Njolstad, Tormund S. , Helland, Harald , Scott, Rodney J. , Ashton, Katie , Proietto, Tony , Otton, Geoffrey , National Study of Endometrial Cancer Genetics Group, , Ferguson, Kaltin , Tomlinson, Ian , Gorman, Maggie , Howarth, Kimberley , Hodgson, Shirley , Garcia-Closas, Montserrat , Wentzensen, Nicolas , Yang, Hannah , Chanock, Stephen , Hall, Per , Czene, Kamila , Healey, Catherine S. , Liu, Jianjun , Li, Jingmei , Shu, Xiao-Ou , Zheng, Wei , Long, Jirong , Xiang, Yong-Bing , Shah, Mitul , Morrison, Jonathan , Michailidou, Kyriaki , Pharoah, Paul D. , O'Mara, Tracy , Dunning, Alison M. , Easton, Douglas F. , Walker, Logan C, , Montgomery, Stephen B. , Dermitzakis, Emmanouil T. , Australian National Endometrial Cancer Study Group,
- Resource Type: journal article
- Date: 2011
Genetic markers of human evolution are enriched in schizophrenia
- Creator: Srinivasan, Saurabh , Bettella, Francesco , Mattingsdal, Morten , Wang, Yunpeng , Witoelar, Aree , Schork, Andrew J. , Thompson, Wesley K. , Zuber, Verena , Schizophrenia Working Group of the Psychiatric Genomics Consortium, , International Headache Genetics Consortium , Winsvold, Bendik S. , Zwart, John-Anker , Collier, David A. , Desikan, Rahul S. , Melle, Ingrid , Werge, Thomas , Dale, Anders M. , Djurovic, Srdjan , Andreassen, Ole A. , Henskens, Frans A. , Cairns, Murray J. , Kelly, Brian J. , Loughland, Carmel M. , Schall, Ulrich , Tooney, Paul A. , Mitchie, Patricia T. , Scott, Rodney J.
- Resource Type: journal article
- Date: 2016
Meta-analysis of genome-wide association studies in five cohorts reveals common variants in RBFOX1, a regulator of tissue-specific splicing, associated with refractive error
- Creator: Stambolian, Dwight , Wojciechowski, Robert , Wong, Tien Y. , Simpson, Claire L. , Klaver, Caroline C. W. , van Duijn, Cornelia M. , Verhoeven, Virginie J. M. , Baird, Paul N. , Vitart, Veronique , Paterson, Andrew D. , Mitchell, Paul , Saw, Seang Mei , Oexle, Konrad , Holliday, Elizabeth G. , Attia, John , Scott, Rodney J. , Pirastu, Mario , Li, Xiaohui , Raffel, Leslie J. , Cotch, Mary Frances , Chew, Emily Y. , Klein, Barbara , Klein, Ronald
- Resource Type: journal article
- Date: 2013
Methylome sequencing in triple-negative breast cancer reveals distinct methylation clusters with prognostic value
- Creator: Stirzaker, Clare , Zotenko, Elena , Avery-Kiejda, Kelly A. , Peters, Kate M. , French, Juliet D. , Stein, Sandra , Korbie, Darren J. , Trau, Matt , Forbes, John F. , Scott, Rodney J. , Brown, Melissa A. , Francis, Glenn D. , Song, Jenny Z. , Clark, Susan J. , Qu, Wenjia , Nair, Shalima S. , Locke, Warwick J. , Stone, Andrew , Armstong, Nicole J. , Robinson, Mark D. , Dobrovic, Alexander
- Resource Type: journal article
- Date: 2015
The potential role of miRNAs in therapy of breast and ovarian cancers associated with BRCA1 mutation
- Creator: Strumidło, Agnieszka , Skiba, Sylwia , Scott, Rodney J. , Lubiński, Jan
- Resource Type: journal article
- Date: 2017
Inflammatory response gene polymorphisms and their relationship with colorectal cancer risk
- Creator: Suchy, Janina , Kłujszo-Grabowska, Ewa , Kładny, Józef , Cybulski, Cezary , Wokołorczyk, Dominika , Szymańska-Pasternak, Jolanta , Kurzawski, Grzegorz , Scott, Rodney J. , Lubiński, Jan
- Resource Type: journal article
- Date: 2008
Genetic polymorphisms in xenobiotic clearance genes and their influence on disease expression in hereditary nonpolyposis colorectal cancer patients
- Creator: Talseth, Bente A. , Meldrum, Cliff , Suchy, Janina , Kurzawski, Grzegroz , Lubinski, Jan , Scott, Rodney J.
- Resource Type: journal article
- Date: 2006
Aurora-A and Cyclin D1 polymorphisms and the age of onset of colorectal cancer in hereditary nonpolyposis colorectal cancer
- Creator: Talseth, Bente A. , Ashton, Katie A. , Meldrum, Cliff , Suchy, Janina , Kurzawski, Grzegorz , Lubinski, Jan , Scott, Rodney J.
- Resource Type: journal article
- Date: 2008
Genetic variation and its role in malignancy
- Creator: Talseth-Palmer, Bente A. , Scott, Rodney J.
- Resource Type: journal article
- Date: 2011
Whole genome amplification and its impact on CGH array profiles
- Creator: Talseth-Palmer, Bente A. , Bowden, Nikola A. , Hill, Alyssa , Meldrum, Cliff , Scott, Rodney J.
- Resource Type: journal article
- Date: 2008
The importance of a large sample cohort for studies on modifier genes influencing disease severity in FAP patients
- Creator: Talseth-Palmer, Bente A. , Wijnen, Juul T. , Van Wezel, Tom , Vasen, Hans F. A. , Scott, Rodney J. , Andreassen, Eva K. , Barker, Daniel , Jagmohan-Changur, Shantie , Tops, Carli M. , Meldrum, Cliff , The Dutch Cancer Genetics Group , Spigelman, Allan , Hes, Frederik J.
- Resource Type: journal article
- Date: 2013
8q23.3 and 11q23.1 as modifying loci influencing the risk for CRC in Lynch syndrome
- Creator: Talseth-Palmer, Bente A. , Scott, Rodney J. , Vasen, Hans F. A. , Wijnen, Juul T.
- Resource Type: journal article
- Date: 2012
Continuing difficulties in interpreting CNV data: lessons from a genome-wide CNV association study of Australian HNPCC/lynch syndrome patients
- Creator: Talseth-Palmer, Bente A. , Holliday, Elizabeth G. , Evans, Tiffany-Jane , McEvoy, Mark , Attia, John , Grice, Desma M. , Masson, Amy L. , Meldrum, Cliff , Spigelman, Allan , Scott, Rodney J.
- Resource Type: journal article
- Date: 2013
Colorectal cancer susceptibility loci on chromosome 8q23.3 and 11q23.1 as modifiers for disease expression in lynch syndrome
- Creator: Talseth-Palmer, Bente A. , Brenne, Ingvild S. , Scott, Rodney J. , Ashton, Katie A. , Evans, Tiffany-Jane , McPhillips, Mary , Groombridge, Claire , Suchy, Janina , Kurzawski, Grzegorz , Spigelman, Allan , Lubinski, Jan
- Resource Type: journal article
- Date: 2011
Targeted next-generation sequencing of 22 mismatch repair genes identifies Lynch syndrome families
- Creator: Talseth-Palmer, Bente A. , Bauer, Denis C. , Sjursen, Wenche , Evans, Tiffany J. , McPhillips, Mary , Proietto, Anthony , Otton, Geoffrey , Spigelman, Allan D. , Scott, Rodney J.
- Resource Type: journal article
- Date: 2016
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
Combined analysis of three lynch syndrome cohorts confirms the modifying effects of 8q23.3 and 11q23.1 in MLH1 mutation carriers
- Creator: Talseth-Palmer, Bente A. , Wijnen, Juul T. , Suchy, Janina , Kurzawski, Grzegorz , The Dutch Cancer Genetics Group, , Spigelman, Allan , Møller, Pål , Morreau, Hans M. , Van Wezel, Tom , Lubinski, Jan , Vasen, Hans F. A. , Scott, Rodney J. , Brenne, Ingvild S. , Jagmohan-Changur, Shantie , Barker, Daniel , Ashton, Katie A. , Tops, Carli M. , Evans, Tiffany-Jane , McPhillips, Mary , Groombridge, Claire
- Resource Type: journal article
- Date: 2013
Genetic modifiers of cancer risk in Lynch syndrome: a review
- Creator: Talseth-Palmer, Bente A. , Wijnen, Juul T. , Grice, Desma M. , Scott, Rodney J.
- Resource Type: journal article
- Date: 2013