Imputation as a method to fine map cancer susceptibility loci by Whiffin, N, Dobbins, SE, Broderick, P, Dunlop, MG, Tomlinson, I, Houlston, R

Genetic constraint at single amino acid resolution in protein domains improves missense variant prioritisation and gene discovery by Zhang, X, Theotokis, PI, Li, N, Wright, CF, Samocha, KE, Whiffin, N, Ware, JS

Exome-wide evidence of compound heterozygous effects across common phenotypes in the UK Biobank by Lassen, FH, Venkatesh, SS, Baya, N, Hill, B, Zhou, W, Bloemendal, A, Neale, BM, Kessler, BM, Whiffin, N, Lindgren, CM, Palmer, DS

The TERT variant rs2736100 is associated with colorectal cancer risk. by Kinnersley, B, Migliorini, G, Broderick, P, Whiffin, N, Dobbins, SE, Casey, G, Hopper, J, Sieber, O, Lipton, L, Kerr, D, Dunlop, MG, Tomlinson, I, Houlston, R

The TERT variant rs2736100 is associated with colorectal cancer risk by Kinnersley, B, Migliorini, G, Broderick, P, Whiffin, N, Dobbins, SE, Casey, G, Hopper, J, Sieber, O, Lipton, L, Kerr, D, Dunlop, MG, Tomlinson, I, Houlston, R

Differences in 5'untranslated regions highlight the importance of translational regulation of dosage sensitive genes by Wieder, N, D’Souza, EN, Martin-Geary, AC, Lassen, FH, Talbot-Martin, J, Fernandes, M, Chothani, SP, Rackham, OJL, Schafer, S, Aspden, JL, MacArthur, DG, Davies, RW, Whiffin, N

Putative cis-regulatory drivers in colorectal cancer. by Ongen, H, Andersen, C, Bramsen, J, Oster, B, Rasmussen, M, Ferreira, P, Sandoval, J, Vidal, E, Whiffin, N, Planchon, A, Padioleau, I, Bielser, D, Romano, L, Tomlinson, I, Houlston, R, Esteller, M, Orntoft, T, Dermitzakis, E

Deciphering the genetic architecture of low-penetrance susceptibility to colorectal cancer. by Whiffin, N, Dobbins, SE, Hosking, F, Palles, C, Tenesa, A, Wang, Y, Farrington, S, Jones, A, Broderick, P, Campbell, H, Newcomb, P, Casey, G, Conti, D, Schumacher, F, Gallinger, S, Lindor, N, Hopper, J, Jenkins, M, Dunlop, MG, Tomlinson, I, Houlston, R

Common variation near CDKN1A, POLD3 and SHROOM2 influences colorectal cancer risk by Dunlop, MG, Dobbins, SE, Farrington, S, Jones, A, Palles, C, Whiffin, N, Tenesa, A, Spain, S, Broderick, P, Ooi, L, Domingo, E, Smillie, C, Henrion, M, Frampton, M, Martin, L, Grimes, G, Gorman, M, Semple, C, Ma, Y, Barclay, E, Prendergast, J, Cazier, J, Olver, B, Penegar, S, Lubbe, S

Common variation near CDKN1A, POLD3 and SHROOM2 influences colorectal cancer risk. by Dunlop, MG, Dobbins, SE, Farrington, S, Jones, A, Palles, C, Whiffin, N, Tenesa, A, Spain, S, Broderick, P, Ooi, L, Domingo, E, Smillie, C, Henrion, M, Frampton, M, Martin, L, Grimes, G, Gorman, M, Semple, C, Ma, Y, Barclay, E, Prendergast, J, Cazier, J, Olver, B, Penegar, S, Lubbe, S

Identification of susceptibility loci for colorectal cancer in a genome-wide meta-analysis. by Whiffin, N, Hosking, F, Farrington, S, Palles, C, Dobbins, SE, Zgaga, L, Lloyd, A, Kinnersley, B, Gorman, M, Tenesa, A, Broderick, P, Wang, Y, Barclay, E, Hayward, C, Martin, L, Buchanan, D, Win, A, Hopper, J, Jenkins, M, Lindor, N, Newcomb, P, Gallinger, S, Conti, D, Schumacher, F, Casey, G

Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen’s Inherited Cardiomyopathy Exp... by Kelly, M, Caleshu, C, Morales, A, Buchan, J, Wolf, Z, Harrison, S, Cook, S, Dillon, M, Garcia, J, Haverfield, E, Jongbloed, J, Macaya, D, Manrai, A, Orland, K, Richard, G, Spoonamore, K, Thomas, M, Thomson, K, Vincent, L, Walsh, R, Watkins, H, Whiffin, N, Ingles, J, Van Tintelen, J, Semsarian, C, Ware, J, Hershberger, R, Funke, B

Quantitative approaches to variant classification increase the yield and precision of genetic testing in Mendelian diseases: the case of hypertrophic cardiomyopathy by Walsh, R, Mazzarotto, F, Whiffin, N, Buchan, R, Midwinter, W, Wilk, A, Li, N, Felkin, L, Ingold, N, Govind, R, Ahmad, M, Mazaika, E, Allouba, M, Zhang, X, De Marvao, A, Day, SM, Ashley, E, Colan, SD, Michels, M, Pereira, AC, Jacoby, D, Ho, CY, Thomson, KL, Watkins, H, Barton, PJR, Olivotto, I, Cook, SA, Ware, JS

De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome by Chen, Y, Dawes, R, Kim, HC, Ljungdahl, A, Stenton, SL, Walker, S, Lord, J, Lemire, G, Martin-Geary, AC, Ganesh, VS, Ma, J, Ellingford, JM, Delage, E, D’Souza, EN, Dong, S, Adams, DR, Allan, K, Bakshi, M, Baldwin, EE, Berger, SI, Bernstein, JA, Bhatnagar, I, Blair, E, Brown, NJ, Goriely, A, Hinch, AG, Stewart, HS, Fica, SM, Sanders, SJ, Whiffin, N

Reevaluating the genetic contribution of monogenic dilated cardiomyopathy by Mazzarotto, F, Tayal, U, Buchan, RJ, Midwinter, W, Wilk, A, Whiffin, N, Govind, R, Mazaika, E, de Marvao, A, Dawes, TJW, Felkin, LE, Ahmad, M, Theotokis, PI, Edwards, E, Ing, AY, Thomson, KL, Chan, LHL, Sim, D, Baksi, AJ, Pantazis, A, Roberts, AM, Watkins, H, Funke, B, O'Regan, DP, Olivotto, I, Barton, PJR, Prasad, SK, Cook, SA, Ware, JS, Walsh, R

Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms by Wright, CF, Quaife, NM, Ramos-Hernández, L, Danecek, P, Ferla, MP, Samocha, KE, Kaplanis, J, Gardner, EJ, Eberhardt, RY, Chao, KR, Karczewski, KJ, Morales, J, Gallone, G, Balasubramanian, M, Banka, S, Gompertz, L, Kerr, B, Kirby, A, Lynch, SA, Morton, JEV, Pinz, H, Sansbury, FH, Stewart, H, Zuccarelli, BD, Cook, SA, Taylor, JC, Juusola, J, Retterer, K, Firth, HV, Hurles, ME, Lara-Pezzi, E, Barton, PJR, Whiffin, N

Multiple common susceptibility variants near BMP pathway loci GREM1, BMP4, and BMP2 explain part of the missing heritability of colorectal cancer. by Tomlinson, I, Carvajal-Carmona, L, Dobbins, SE, Tenesa, A, Jones, A, Howarth, K, Palles, C, Broderick, P, Jaeger, E, Farrington, S, Lewis, A, Prendergast, J, Pittman, A, Theodoratou, E, Olver, B, Walker, M, Penegar, S, Barclay, E, Whiffin, N, Martin, L, Ballereau, S, Lloyd, A, Gorman, M, Lubbe, S, Howie, B, Marchini, J, Ruiz-Ponte, C, Fernandez-Rozadilla, C, Castells, A, Carracedo, A, Castellvi-Bel, S, Duggan, D, Conti, D, Cazier, J, Campbell, H, Sieber, O, Lipton, L, Gibbs, P, Martin, N, Montgomery, G, Young, J, Baird, P, Gallinger, S, Newcomb, P, Hopper, J, Jenkins, M, Aaltonen, L, Kerr, D, Cheadle, J, Pharoah, P, Casey, G, Houlston, R, Dunlop, MG

Shared genetic pathways contribute to risk of hypertrophic and dilated cardiomyopathies with opposite directions of effect by Tadros, R, Francis, C, Xu, X, Vermeer, AMC, Harper, AR, Huurman, R, Kelu Bisabu, K, Walsh, R, Hoorntje, ET, Te Rijdt, WP, Buchan, RJ, van Velzen, HG, van Slegtenhorst, MA, Vermeulen, JM, Offerhaus, JA, Bai, W, de Marvao, A, Lahrouchi, N, Beekman, L, Karper, JC, Veldink, JH, Kayvanpour, E, Pantazis, A, Baksi, AJ, Whiffin, N, Mazzarotto, F, Sloane, G, Suzuki, H, Schneider-Luftman, D, Elliott, P, Richard, P, Ader, F, Villard, E, Lichtner, P, Meitinger, T, Tanck, MWT, van Tintelen, JP, Thain, A, McCarty, D, Hegele, RA, Roberts, JD, Amyot, J, Dubé, M-P, Cadrin-Tourigny, J, Giraldeau, G, L'Allier, PL, Garceau, P, Tardif, J-C, Boekholdt, SM, Lumbers, RT, Watkins, H

Meta-analysis of genome-wide association studies identifies common susceptibility polymorphisms for colorectal and endometrial cancer near SH2B3 and TSHZ1. by Cheng, T, Thompson, D, Painter, J, O'Mara, T, Gorman, M, Martin, L, Palles, C, Jones, A, Buchanan, D, Ko Win, A, Hopper, J, Jenkins, M, Lindor, N, Newcomb, P, Gallinger, S, Conti, D, Schumacher, F, Casey, G, Giles, G, Pharoah, P, Peto, J, Cox, A, Swerdlow, A, Couch, F, Cunningham, J, Goode, E, Winham, S, Lambrechts, D, Fasching, P, Burwinkel, B, Brenner, H, Brauch, H, Chang-Claude, J, Salvesen, H, Kristensen, V, Darabi, H, Li, J, Liu, T, Lindblom, A, Hall, P, de Polanco, M, Sans, M, Carracedo, A, Castellvi-Bel, S, Rojas-Martinez, A, Aguiar Jnr, S, Teixeira, M, Dunning, A, Dennis, J, Otton, G, Proietto, T, Holliday, E, Attia, J, Ashton, K, Scott, R, McEvoy, M, Dowdy, S, Fridley, B, Werner, H, Trovik, J, Njolstad, T, Tham, E, Mints, M, Runnebaum, I, Hillemanns, P, Dörk, T, Amant, F, Schrauwen, S, Hein, A, Beckmann, M, Ekici, A, Czene, K, Meindl, A, Bolla, M, Michailidou, K, Tyrer, J, Wang, Q, Ahmed, S, Healey, C, Shah, M, Annibali, D, Depreeuw, J, Al-Tassan, N, Harris, R, Meyer, B, Whiffin, N, Hosking, F, Kinnersley, B, Farrington, S, Timofeeva, M, Tenesa, A, Campbell, H, Haile, R, Hodgson, S, Carvajal-Carmona, L, Cheadle, J, Easton, D, Dunlop, M, Houlston, R, Spurdle, A, Tomlinson, I