Colombo, M; Lòpez-Perolio, I; Meeks, HD; Caleca, L; Parsons, MT; Li, H; De Vecchi, G; Tudini, E; Foglia, C; Mondini, P; +105 more... Manoukian, S; Behar, R; Garcia, EBG; Meindl, A; Montagna, M; Niederacher, D; Schmidt, AY; Varesco, L; Wappenschmidt, B; Bolla, MK; Dennis, J; Michailidou, K; Wang, Q; Aittomäki, K; Andrulis, IL; Anton-Culver, H; Arndt, V; Beckmann, MW; Beeghly-Fadel, A; Benitez, J; Boeckx, B; Bogdanova, NV; Bojesen, SE; Bonanni, B; Brauch, H; Brenner, H; Burwinkel, B; Chang-Claude, J; Conroy, DM; Couch, FJ; Cox, A; Cross, SS; Czene, K; Devilee, P; Dörk, T; Eriksson, M; Fasching, PA; Figueroa, J; Fletcher, O; Flyger, H; Gabrielson, M; García-Closas, M; Giles, GG; González-Neira, A; Guénel, P; Haiman, CA; Hall, P; Hamann, U; Hartman, M; Hauke, J; Hollestelle, A; Hopper, JL; Jakubowska, A; Jung, A; Kosma, VM; Lambrechts, D; Le Marchand, L; Lindblom, A; Lubinski, J; Mannermaa, A; Margolin, S; Miao, H; Milne, RL; Neuhausen, SL; Nevanlinna, H; Olson, JE; Peterlongo, P; Peto, J; Pylkäs, K; Sawyer, EJ; Schmidt, MK; Schmutzler, RK; Schneeweiss, A; Schoemaker, MJ; See, MH; Southey, MC; Swerdlow, A; Teo, SH; Toland, AE; Tomlinson, I; Truong, T; van Asperen, CJ; van den Ouweland, AMW; van der Kolk, LE; Winqvist, R; Yannoukakos, D; Zheng, W; kConFab/AOCS Investigators; Dunning, AM; Easton, DF; Henderson, A; Hogervorst, FBL; Izatt, L; Offitt, K; Side, LE; van Rensburg, EJ; Embrace, S; Hebon, S; McGuffog, L; Antoniou, AC; Chenevix-Trench, G; Spurdle, AB; Goldgar, DE; Hoya, M; Radice, P; (2018) The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity. Human mutation, 39 (5). pp. 729-741. ISSN 1059-7794 DOI: https://doi.org/10.1002/humu.23411

Lambrechts, D; Truong, T; Justenhoven, C; Humphreys, MK; Wang, J; Hopper, JL; Dite, GS; Apicella, C; Southey, MC; Schmidt, MK; +143 more... Broeks, A; Cornelissen, S; van Hien, R; Sawyer, E; Tomlinson, I; Kerin, M; Miller, N; Milne, RL; Zamora, MP; Pérez, JI; Benítez, J; Hamann, U; Ko, YD; Brüning, T; The GENICA Network; Chang-Claude, J; Eilber, U; Hein, R; Nickels, S; Flesch-Janys, D; Wang-Gohrke, S; John, EM; Miron, A; Winqvist, R; Pylkäs, K; Jukkola-Vuorinen, A; Grip, M; Chenevix-Trench, G; Beesley, J; Chen, X; Investigators, K; Australian Ovarian Cancer Study Group; Menegaux, F; Cordina-Duverger, E; Shen, CY; Yu, JC; Wu, PE; Hou, MF; Andrulis, IL; Selander, T; Glendon, G; Mulligan, AM; Anton-Culver, H; Ziogas, A; Muir, KR; Lophatananon, A; Rattanamongkongul, S; Puttawibul, P; Jones, M; Orr, N; Ashworth, A; Swerdlow, A; Severi, G; Baglietto, L; Giles, G; Southey, M; Marmé, F; Schneeweiss, A; Sohn, C; Burwinkel, B; Yesilyurt, BT; Neven, P; Paridaens, R; Wildiers, H; Brenner, H; Müller, H; Arndt, V; Stegmaier, C; Meindl, A; Schott, S; Bartram, CR; Schmutzler, RK; Cox, A; Brock, IW; Elliott, G; Cross, SS; Fasching, PA; Schulz-Wendtland, R; Ekici, AB; Beckmann, MW; Fletcher, O; Johnson, N; Silva, ID; Peto, J; Nevanlinna, H; Muranen, TA; Aittomäki, K; Blomqvist, C; Dörk, T; Schürmann, P; Bremer, M; Hillemanns, P; Bogdanova, NV; Antonenkova, NN; Rogov, YI; Karstens, JH; Khusnutdinova, E; Bermisheva, M; Prokofieva, D; Gancev, S; Jakubowska, A; Lubinski, J; Jaworska, K; Durda, K; Nordestgaard, BG; Bojesen, SE; Lanng, C; Mannermaa, A; Kataja, V; Kosma, VM; Hartikainen, JM; Radice, P; Peterlongo, P; Manoukian, S; Bernard, L; Couch, FJ; Olson, JE; Wang, X; Fredericksen, Z; Alnaes, GG; Kristensen, V; Børresen-Dale, AL; Devilee, P; Tollenaar, RA; Seynaeve, CM; Hooning, MJ; García-Closas, M; Chanock, SJ; Lissowska, J; Sherman, ME; Hall, P; Liu, J; Czene, K; Kang, D; Yoo, KY; Noh, DY; Lindblom, A; Margolin, S; Dunning, AM; Pharoah, PD; Easton, DF; Guénel, P; Brauch, H; (2012) 11q13 is a susceptibility locus for hormone receptor positive breast cancer. Human mutation, 33 (7). pp. 1123-1132. ISSN 1059-7794 DOI: https://doi.org/10.1002/humu.22089 Full text not available from this repository.

Rubio, JP; Topp, S; Warren, L; St Jean, PL; Wegmann, D; Kessner, D; Novembre, J; Shen, J; Fraser, D; Aponte, J; +7 more... Nangle, K; Cardon, LR; Ehm, MG; Chissoe, SL; Whittaker, JC; Nelson, MR; Mooser, VE; (2012) Deep sequencing of the LRRK2 gene in 14,002 individuals reveals evidence of purifying selection and independent origin of the p.Arg1628Pro mutation in Europe. Human mutation, 33 (7). pp. 1087-98. ISSN 1059-7794 DOI: https://doi.org/10.1002/humu.22075 Full text not available from this repository.

McKay, GJ; Patterson, CC; Chakravarthy, U; Dasari, S; Klaver, CC; Vingerling, JR; Ho, L; de Jong, PT; Fletcher, AE; Young, IS; +40 more... Seland, JH; Rahu, M; Soubrane, G; Tomazzoli, L; Topouzis, F; Vioque, J; Hingorani, AD; Sofat, R; Dean, M; Sawitzke, J; Seddon, JM; Peter, I; Webster, AR; Moore, AT; Yates, JR; Cipriani, V; Fritsche, LG; Weber, BH; Keilhauer, CN; Lotery, AJ; Ennis, S; Klein, ML; Francis, PJ; Stambolian, D; Orlin, A; Gorin, MB; Weeks, DE; Kuo, CL; Swaroop, A; Othman, M; Kanda, A; Chen, W; Abecasis, GR; Wright, AF; Hayward, C; Baird, PN; Guymer, RH; Attia, J; Thakkinstian, A; Silvestri, G; (2011) Evidence of association of APOE with age-related macular degeneration - a pooled analysis of 15 studies. Human mutation, 32 (12). pp. 1407-16. ISSN 1059-7794 DOI: https://doi.org/10.1002/humu.21577 Full text not available from this repository.

Alharbi, KK; Spanakis, E; Tan, K; Smith, MJ; Aldahmesh, MA; O'Dell, SD; Sayer, AA; Lawlor, DA; Ebrahim, S; Smith, GD; +5 more... O'Rahilly, S; Farooqi, S; Cooper, C; Phillips, DIW; Day, INM; (2007) Prevalence and functionality of paucimorphic and private MC4R mutations in a large, unselected European British population, scanned by meltMADGE. Human mutation, 28 (3). pp. 294-302. ISSN 1059-7794 DOI: https://doi.org/10.1002/humu.20404 Full text not available from this repository.