Genome-wide detection of human variants that disrupt intronic branchpoints von Zhang, Peng, Philippot, Quentin, Ren, Weicheng, Lei, Wei-Te, Li, Juan, Stenson, Peter D., Palacín, Pere Soler, Colobran, Roger, Boisson, Bertrand, Zhang, Shen-Ying, Puel, Anne, Pan-Hammarström, Qiang, Zhang, Qian, Cooper, David N., Abel, Laurent, Casanova, Jean-Laurent

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Human Gene Mutation Database (HGMD®): 2003 update von Stenson, Peter D., Ball, Edward V., Mort, Matthew, Phillips, Andrew D., Shiel, Jacqueline A., Thomas, Nick S.T., Abeysinghe, Shaun, Krawczak, Michael, Cooper, David N.

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A systematic analysis of LINE-1 endonuclease-dependent retrotranspositional events causing human genetic disease von CHEN, Jian-Min, STENSON, Peter D, COOPER, David N, FEREC, Claude

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Microdeletions and microinsertions causing human genetic disease: common mechanisms of mutagenesis and the role of local DNA sequence complexity von Ball, Edward V., Stenson, Peter D., Abeysinghe, Shaun S., Krawczak, Michael, Cooper, David N., Chuzhanova, Nadia A.

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Meta-Analysis of gross insertions causing human genetic disease: Novel mutational mechanisms and the role of replication slippage von Chen, Jian-Min, Chuzhanova, Nadia, Stenson, Peter D., Férec, Claude, Cooper, David N.

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Complex gene rearrangements caused by serial replication slippage von Chen, Jian‐Min, Chuzhanova, Nadia, Stenson, Peter D., Férec, Claude, Cooper, David N.

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Evolutionary conservation and selection of human disease gene orthologs in the rat and mouse genomes von Huang, Hui, Winter, Eitan E, Wang, Huajun, Weinstock, Keith G, Xing, Heming, Goodstadt, Leo, Stenson, Peter D, Cooper, David N, Smith, Douglas, Albà, M Mar, Ponting, Chris P, Fechtel, Kim

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Human Gene Mutation Database-A biomedical information and research resource von Krawczak, Michael, Ball, Edward V., Fenton, Iain, Stenson, Peter D., Abeysinghe, Shaun, Thomas, Nick, Cooper, David N.

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Intrachromosomal serial replication slippage in trans gives rise to diverse genomic rearrangements involving inversions von Chen, Jian-Min, Chuzhanova, Nadia, Stenson, Peter D., Férec, Claude, Cooper, David N.

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Analysis of protein-coding genetic variation in 60,706 humans von Lek, M, Karczewski, KJ, Minikel, EV, Samocha, KE, Banks, E, Fennell, T, O'Donnell-Luria, AH, Ware, JS, Hill, AJ, Cummings, BB, Tukiainen, T, Birnbaum, DP, Kosmicki, JA, Duncan, LE, Estrada, K, Zhao, F, Zou, J, Pierce-Hoffman, E, Berghout, J, Cooper, DN, Deflaux, N, DePristo, M, Do, R, Flannick, J, Fromer, M, Gauthier, L, Goldstein, J, Gupta, N, Howrigan, D, Kiezun, A, Kurki, MI, Moonshine, AL, Natarajan, P, Orozco, L, Peloso, GM, Poplin, R, Rivas, MA, Ruano-Rubio, V, Rose, SA, Ruderfer, DM, Shakir, K, Stenson, PD, Stevens, C, Thomas, BP, Tiao, G, Tusie-Luna, MT, Weisburd, B, Won, HH, Yu, D, Altshuler, DM, Ardissino, D, Boehnke, M, Danesh, J, Donnelly, S, Elosua, R, Florez, JC, Gabriel, SB, Getz, G, Glatt, SJ, Hultman, CM, Kathiresan, S, Laakso, M, McCarroll, S, McCarthy, MI, McGovern, D, McPherson, R, Neale, BM, Palotie, A, Purcell, SM, Saleheen, D, Scharf, JM, Sklar, P, Sullivan, PF, Tuomilehto, J, Tsuang, MT, Watkins, HC, Wilson, JG, Daly, MJ, MacArthur, DG, Exome Aggregation Consortium

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Gross rearrangement breakpoint database (GRaBD™) von Abeysinghe, Shaun S., Stenson, Peter D., Krawczak, Michael, Cooper, David N.

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Meta-analysis of gross insertions causing human genetic disease: Novel mutational mechanisms and the role of replication slippage von Chen, Jian-Min, Chuzhanova, Nadia, Stenson, Peter D., Férec, Claude, Cooper, David N.

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Changes in primary DNA sequence complexity influence the phenotypic consequences of mutations in human gene regulatory regions von Krawczak, M, Chuzhanova, N A, Stenson, P D, Johansen, B N, Ball, E V, Cooper, D N

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Monomeric IgG2a Promotes Maturation of Bone-Marrow Macrophages and Expression of the Mannose Receptor von Schreiber, Stefan, Blum, Janice S., Stenson, William F., MacDermott, Richard P., Stahl, Philip D., Teitelbaum, Steven L., Perkins, Sherrie L.

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