Integrating genome-wide polygenic risk scores and non-genetic risk to predict colorectal cancer diagnosis using UK Biobank data: population based cohort study.
Bmj (Clinical Research Ed.)
Briggs, Sarah E W SEW; Law, Philip P; East, James E JE; Wordsworth, Sarah S; Dunlop, Malcolm M; Houlston, Richard R; Hippisley-Cox, Julia J; Tomlinson, Ian I
Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.
Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
DNA methylation analysis of normal colon organoids from familial adenomatous polyposis patients reveals novel insight into colon cancer development.
Clinical Epigenetics
Devall, Matthew A MA; Eaton, Stephen S; Ali, Mourad Wagdy MW; Dampier, Christopher H CH; Weisenberger, Daniel D; Powell, Steven M SM; Li, Li L; Casey, Graham G
Transcriptional dynamics of colorectal cancer risk associated variation at 11q23.1 correlate with tuft cell abundance and marker expression in silico.
Scientific Reports
Harris, Bradley T BT; Rajasekaran, Vidya V; Blackmur, James P JP; O'Callaghan, Alan A; Donnelly, Kevin K; Timofeeva, Maria M; Vaughan-Shaw, Peter G PG; Din, Farhat V N FVN; Dunlop, Malcolm G MG; Farrington, Susan M SM
Alcohol consumption, DNA methylation and colorectal cancer risk: Results from pooled cohort studies and Mendelian randomization analysis.
International Journal Of Cancer
Zhou, Xuan X; Wang, Lijuan L; Xiao, Jiarui J; Sun, Jing J; Yu, Lili L; Zhang, Han H; Meng, Xiangrui X; Yuan, Shuai S; Timofeeva, Maria M; Law, Philip J PJ; Houlston, Richard S RS; Ding, Kefeng K; Dunlop, Malcolm G MG; Theodoratou, Evropi E; Li, Xue X
Identifying causal models between genetically regulated methylation patterns and gene expression in healthy colon tissue.
Clinical Epigenetics
Díez-Villanueva, Anna A; Jordà, Mireia M; Carreras-Torres, Robert R; Alonso, Henar H; Cordero, David D; Guinó, Elisabet E; Sanjuan, Xavier X; Santos, Cristina C; Salazar, Ramón R; Sanz-Pamplona, Rebeca R; Moreno, Victor V
Genetic architectures of proximal and distal colorectal cancer are partly distinct.
Gut
Huyghe, Jeroen R JR; Harrison, Tabitha A TA; Bien, Stephanie A SA; Hampel, Heather H; Figueiredo, Jane C JC; Schmit, Stephanie L SL; Conti, David V DV; Chen, Sai S; Qu, Conghui C; Lin, Yi Y; Barfield, Richard R; Baron, John A JA; Cross, Amanda J AJ; Diergaarde, Brenda B; Duggan, David D; Harlid, Sophia S; Imaz, Liher L; Kang, Hyun Min HM; Levine, David M DM; Perduca, Vittorio V; Perez-Cornago, Aurora A; Sakoda, Lori C LC; Schumacher, Fredrick R FR; Slattery, Martha L ML; Toland, Amanda E AE; van Duijnhoven, Fränzel J B FJB; Van Guelpen, Bethany B; Agudo, Antonio A; Albanes, Demetrius D; Alonso, M Henar MH; Anderson, Kristin K; Arnau-Collell, Coral C; Arndt, Volker V; Banbury, Barbara L BL; Bassik, Michael C MC; Berndt, Sonja I SI; Bézieau, Stéphane S; Bishop, D Timothy DT; Boehm, Juergen J; Boeing, Heiner H; Boutron-Ruault, Marie-Christine MC; Brenner, Hermann H; Brezina, Stefanie S; Buch, Stephan S; Buchanan, Daniel D DD; Burnett-Hartman, Andrea A; Caan, Bette J BJ; Campbell, Peter T PT; Carr, Prudence R PR; Castells, Antoni A; Castellví-Bel, Sergi S; Chan, Andrew T AT; Chang-Claude, Jenny J; Chanock, Stephen J SJ; Curtis, Keith R KR; de la Chapelle, Albert A; Easton, Douglas F DF; English, Dallas R DR; Feskens, Edith J M EJM; Gala, Manish M; Gallinger, Steven J SJ; Gauderman, W James WJ; Giles, Graham G GG; Goodman, Phyllis J PJ; Grady, William M WM; Grove, John S JS; Gsur, Andrea A; Gunter, Marc J MJ; Haile, Robert W RW; Hampe, Jochen J; Hoffmeister, Michael M; Hopper, John L JL; Hsu, Wan-Ling WL; Huang, Wen-Yi WY; Hudson, Thomas J TJ; Jenab, Mazda M; Jenkins, Mark A MA; Joshi, Amit D AD; Keku, Temitope O TO; Kooperberg, Charles C; Kühn, Tilman T; Küry, Sébastien S; Le Marchand, Loic L; Lejbkowicz, Flavio F; Li, Christopher I CI; Li, Li L; Lieb, Wolfgang W; Lindblom, Annika A; Lindor, Noralane M NM; Männistö, Satu S; Markowitz, Sanford D SD; Milne, Roger L RL; Moreno, Lorena L; Murphy, Neil N; Nassir, Rami R; Offit, Kenneth K; Ogino, Shuji S; Panico, Salvatore S; Parfrey, Patrick S PS; Pearlman, Rachel R; Pharoah, Paul D P PDP; Phipps, Amanda I AI; Platz, Elizabeth A EA; Potter, John D JD; Prentice, Ross L RL; Qi, Lihong L; Raskin, Leon L; Rennert, Gad G; Rennert, Hedy S HS; Riboli, Elio E; Schafmayer, Clemens C; Schoen, Robert E RE; Seminara, Daniela D; Song, Mingyang M; Su, Yu-Ru YR; Tangen, Catherine M CM; Thibodeau, Stephen N SN; Thomas, Duncan C DC; Trichopoulou, Antonia A; Ulrich, Cornelia M CM; Visvanathan, Kala K; Vodicka, Pavel P; Vodickova, Ludmila L; Vymetalkova, Veronika V; Weigl, Korbinian K; Weinstein, Stephanie J SJ; White, Emily E; Wolk, Alicja A; Woods, Michael O MO; Wu, Anna H AH; Abecasis, Goncalo R GR; Nickerson, Deborah A DA; Scacheri, Peter C PC; Kundaje, Anshul A; Casey, Graham G; Gruber, Stephen B SB; Hsu, Li L; Moreno, Victor V; Hayes, Richard B RB; Newcomb, Polly A PA; Peters, Ulrike U
Genetic architectures of proximal and distal colorectal cancer are partly distinct.
Gut
Huyghe, Jeroen R JR; Harrison, Tabitha A TA; Bien, Stephanie A SA; Hampel, Heather H; Figueiredo, Jane C JC; Schmit, Stephanie L SL; Conti, David V DV; Chen, Sai S; Qu, Conghui C; Lin, Yi Y; Barfield, Richard R; Baron, John A JA; Cross, Amanda J AJ; Diergaarde, Brenda B; Duggan, David D; Harlid, Sophia S; Imaz, Liher L; Kang, Hyun Min HM; Levine, David M DM; Perduca, Vittorio V; Perez-Cornago, Aurora A; Sakoda, Lori C LC; Schumacher, Fredrick R FR; Slattery, Martha L ML; Toland, Amanda E AE; van Duijnhoven, Fränzel J B FJB; Van Guelpen, Bethany B; Agudo, Antonio A; Albanes, Demetrius D; Alonso, M Henar MH; Anderson, Kristin K; Arnau-Collell, Coral C; Arndt, Volker V; Banbury, Barbara L BL; Bassik, Michael C MC; Berndt, Sonja I SI; Bézieau, Stéphane S; Bishop, D Timothy DT; Boehm, Juergen J; Boeing, Heiner H; Boutron-Ruault, Marie-Christine MC; Brenner, Hermann H; Brezina, Stefanie S; Buch, Stephan S; Buchanan, Daniel D DD; Burnett-Hartman, Andrea A; Caan, Bette J BJ; Campbell, Peter T PT; Carr, Prudence R PR; Castells, Antoni A; Castellví-Bel, Sergi S; Chan, Andrew T AT; Chang-Claude, Jenny J; Chanock, Stephen J SJ; Curtis, Keith R KR; de la Chapelle, Albert A; Easton, Douglas F DF; English, Dallas R DR; Feskens, Edith J M EJM; Gala, Manish M; Gallinger, Steven J SJ; Gauderman, W James WJ; Giles, Graham G GG; Goodman, Phyllis J PJ; Grady, William M WM; Grove, John S JS; Gsur, Andrea A; Gunter, Marc J MJ; Haile, Robert W RW; Hampe, Jochen J; Hoffmeister, Michael M; Hopper, John L JL; Hsu, Wan-Ling WL; Huang, Wen-Yi WY; Hudson, Thomas J TJ; Jenab, Mazda M; Jenkins, Mark A MA; Joshi, Amit D AD; Keku, Temitope O TO; Kooperberg, Charles C; Kühn, Tilman T; Küry, Sébastien S; Le Marchand, Loic L; Lejbkowicz, Flavio F; Li, Christopher I CI; Li, Li L; Lieb, Wolfgang W; Lindblom, Annika A; Lindor, Noralane M NM; Männistö, Satu S; Markowitz, Sanford D SD; Milne, Roger L RL; Moreno, Lorena L; Murphy, Neil N; Nassir, Rami R; Offit, Kenneth K; Ogino, Shuji S; Panico, Salvatore S; Parfrey, Patrick S PS; Pearlman, Rachel R; Pharoah, Paul D P PDP; Phipps, Amanda I AI; Platz, Elizabeth A EA; Potter, John D JD; Prentice, Ross L RL; Qi, Lihong L; Raskin, Leon L; Rennert, Gad G; Rennert, Hedy S HS; Riboli, Elio E; Schafmayer, Clemens C; Schoen, Robert E RE; Seminara, Daniela D; Song, Mingyang M; Su, Yu-Ru YR; Tangen, Catherine M CM; Thibodeau, Stephen N SN; Thomas, Duncan C DC; Trichopoulou, Antonia A; Ulrich, Cornelia M CM; Visvanathan, Kala K; Vodicka, Pavel P; Vodickova, Ludmila L; Vymetalkova, Veronika V; Weigl, Korbinian K; Weinstein, Stephanie J SJ; White, Emily E; Wolk, Alicja A; Woods, Michael O MO; Wu, Anna H AH; Abecasis, Goncalo R GR; Nickerson, Deborah A DA; Scacheri, Peter C PC; Kundaje, Anshul A; Casey, Graham G; Gruber, Stephen B SB; Hsu, Li L; Moreno, Victor V; Hayes, Richard B RB; Newcomb, Polly A PA; Peters, Ulrike U
Colorectal cancer risk variants rs10161980 and rs7495132 are associated with cancer survival outcome by a recessive mode of inheritance.
International Journal Of Cancer
He, Yazhou Y; Timofeeva, Maria M; Zhang, Xiaomeng X; Xu, Wei W; Li, Xue X; Din, Farhat V N FVN; Svinti, Victoria V; Farrington, Susan M SM; Campbell, Harry H; Dunlop, Malcolm G MG; Theodoratou, Evropi E
DYNC2H1 hypomorphic or retina-predominant variants cause nonsyndromic retinal degeneration.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Vig, Anjali A; Poulter, James A JA; Ottaviani, Daniele D; Tavares, Erika E; Toropova, Katerina K; Tracewska, Anna Maria AM; Mollica, Antonio A; Kang, Jasmine J; Kehelwathugoda, Oshini O; Paton, Tara T; Maynes, Jason T JT; Wheway, Gabrielle G; Arno, Gavin G; , ; Khan, Kamron N KN; McKibbin, Martin M; Toomes, Carmel C; Ali, Manir M; Di Scipio, Matteo M; Li, Shuning S; Ellingford, Jamie J; Black, Graeme G; Webster, Andrew A; Rydzanicz, Małgorzata M; Stawiński, Piotr P; Płoski, Rafał R; Vincent, Ajoy A; Cheetham, Michael E ME; Inglehearn, Chris F CF; Roberts, Anthony A; Heon, Elise E
Effects of common genetic variants associated with colorectal cancer risk on survival outcomes after diagnosis: A large population-based cohort study.
International Journal Of Cancer
He, Yazhou Y; Theodoratou, Evropi E; Li, Xue X; Din, Farhat V N FVN; Vaughan-Shaw, Peter P; Svinti, Victoria V; Farrington, Susan M SM; Campbell, Harry H; Dunlop, Malcolm G MG; Timofeeva, Maria M
Association analyses identify 31 new risk loci for colorectal cancer susceptibility.
Nature Communications
Law, Philip J PJ; Timofeeva, Maria M; Fernandez-Rozadilla, Ceres C; Broderick, Peter P; Studd, James J; Fernandez-Tajes, Juan J; Farrington, Susan S; Svinti, Victoria V; Palles, Claire C; Orlando, Giulia G; Sud, Amit A; Holroyd, Amy A; Penegar, Steven S; Theodoratou, Evropi E; Vaughan-Shaw, Peter P; Campbell, Harry H; Zgaga, Lina L; Hayward, Caroline C; Campbell, Archie A; Harris, Sarah S; Deary, Ian J IJ; Starr, John J; Gatcombe, Laura L; Pinna, Maria M; Briggs, Sarah S; Martin, Lynn L; Jaeger, Emma E; Sharma-Oates, Archana A; East, James J; Leedham, Simon S; Arnold, Roland R; Johnstone, Elaine E; Wang, Haitao H; Kerr, David D; Kerr, Rachel R; Maughan, Tim T; Kaplan, Richard R; Al-Tassan, Nada N; Palin, Kimmo K; Hänninen, Ulrika A UA; Cajuso, Tatiana T; Tanskanen, Tomas T; Kondelin, Johanna J; Kaasinen, Eevi E; Sarin, Antti-Pekka AP; Eriksson, Johan G JG; Rissanen, Harri H; Knekt, Paul P; Pukkala, Eero E; Jousilahti, Pekka P; Salomaa, Veikko V; Ripatti, Samuli S; Palotie, Aarno A; Renkonen-Sinisalo, Laura L; Lepistö, Anna A; Böhm, Jan J; Mecklin, Jukka-Pekka JP; Buchanan, Daniel D DD; Win, Aung-Ko AK; Hopper, John J; Jenkins, Mark E ME; Lindor, Noralane M NM; Newcomb, Polly A PA; Gallinger, Steven S; Duggan, David D; Casey, Graham G; Hoffmann, Per P; Nöthen, Markus M MM; Jöckel, Karl-Heinz KH; Easton, Douglas F DF; Pharoah, Paul D P PDP; Peto, Julian J; Canzian, Federico F; Swerdlow, Anthony A; Eeles, Rosalind A RA; Kote-Jarai, Zsofia Z; Muir, Kenneth K; Pashayan, Nora N; , ; Harkin, Andrea A; Allan, Karen K; McQueen, John J; Paul, James J; Iveson, Timothy T; Saunders, Mark M; Butterbach, Katja K; Chang-Claude, Jenny J; Hoffmeister, Michael M; Brenner, Hermann H; Kirac, Iva I; Matošević, Petar P; Hofer, Philipp P; Brezina, Stefanie S; Gsur, Andrea A; Cheadle, Jeremy P JP; Aaltonen, Lauri A LA; Tomlinson, Ian I; Houlston, Richard S RS; Dunlop, Malcolm G MG
Salomon, Matthew P MP; Li, Wai Lok Sibon WL; Edlund, Christopher K CK; Morrison, John J; Fortini, Barbara K BK; Win, Aung Ko AK; Conti, David V DV; Thomas, Duncan C DC; Duggan, David D; Buchanan, Daniel D DD; Jenkins, Mark A MA; Hopper, John L JL; Gallinger, Steven S; Le Marchand, Loïc L; Newcomb, Polly A PA; Casey, Graham G; Marjoram, Paul P
Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.
Stem Cell Reports
Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC
Identification and characterization of functional risk variants for colorectal cancer mapping to chromosome 11q23.1.
Human Molecular Genetics
Biancolella, Michela M; Fortini, Barbara K BK; Tring, Stephanie S; Plummer, Sarah J SJ; Mendoza-Fandino, Gustavo A GA; Hartiala, Jaana J; Hitchler, Michael J MJ; Yan, Chunli C; Schumacher, Fredrick R FR; Conti, David V DV; Edlund, Christopher K CK; Noushmehr, Houtan H; Coetzee, Simon G SG; Bresalier, Robert S RS; Ahnen, Dennis J DJ; Barry, Elizabeth L EL; Berman, Benjamin P BP; Rice, Judd C JC; Coetzee, Gerhard A GA; Casey, Graham G