The fine-scale structure of recombination rate variation in the human genome. by Mcvean, G, Myers, S, Hunt, S, Deloukas, P, Bentley, DR, Donnelly, P

Efficiency and consistency of haplotype tagging of dense SNP maps in multiple samples. by Ke, X, Durrant, C, Morris, A, Hunt, S, Bentley, DR, Deloukas, P, Cardon, L

Reconstruction of the 2.4 Mb human DMD-gene by homologous YAC recombination. by Den Dunnen, J, Grootscholten, P, Dauwerse, J, Walker, A, Monaco, A, Butler, R, Anand, R, Coffey, A, Bentley, DR, Steensma, H

A high-resolution linkage-disequilibrium map of the human major histocompatibility complex and first generation of tag single-nucleotide polymorphisms. by Miretti, M, Walsh, E, Ke, X, Delgado, M, Griffiths, M, Hunt, S, Morrison, J, Whittaker, P, Lander, E, Cardon, L, Bentley, DR, Rioux, J, Beck, S, Deloukas, P

Homozygous mutations in a predicted endonuclease are a novel cause of congenital dyserythropoietic anemia type I. by Babbs, C, Roberts, N, Sanchez-Pulido, L, McGowan, S, Ahmed, MR, Brown, J, Sabry, M, Bentley, DR, Mcvean, G, Donnelly, P, Gileadi, O, Ponting, C, Higgs, D, Buckle, V

Homozygous microdeletion of exon 5 in ZNF277 in a girl with specific language impairment. by Ceroni, F, Simpson, N, Francks, C, Baird, G, Conti-Ramsden, G, Clark, A, Bolton, P, Hennessy, E, Donnelly, P, Bentley, DR, Martin, H, Parr, J, Pagnamenta, A, Maestrini, E, Bacchelli, E, Fisher, SE, Newbury, D

Reply to Pembrey et al: 'ZNF277 microdeletions, specific language impairment and the meiotic mismatch methylation (3M) hypothesis' by Ceroni, F, Simpson, N, Francks, C, Baird, G, Conti-Ramsden, G, Clark, A, Bolton, P, Hennessy, E, Donnelly, P, Bentley, DR, Martin, H, Parr, J, Pagnamenta, A, Maestrini, E, Bacchelli, E, Fisher, SE, Newbury, D

Genomic analysis of sporadic neurological disease using family trios: learning to expect the unexpected by Pagnamenta, A, Martin, H, Lise, S, Hudspith, K, Harrison, V, Copley, R, Rimmer, A, Broxholme, J, Kanapin, A, Cazier, J, Akha, E, Knight, S, Shears, D, Stewart, H, Kini, U, Taylor, J, Bentley, DR, Keays, D, Blair, E, Donnelly, P

An integrated YAC map of the human X chromosome. by Roest Crollius, H, Ross, M, Grigoriev, A, Knights, C, Holloway, E, Misfud, J, Li, K, Playford, M, Gregory, S, Humphray, S, Coffey, A, See, C, Marsh, S, Vatcheva, R, Kumlien, J, Labella, T, Lam, V, Rak, K, Todd, K, Mott, R, Graeser, D, Rappold, G, Zehetner, G, Poustka, A, Bentley, DR

Clinical whole-genome sequencing from routine formalin-fixed, paraffin-embedded specimens: pilot study for the 100,000 Genomes Project. by Robbe, P, Popitsch, N, Knight, SJL, Antoniou, P, Becq, J, He, M, Kanapin, A, Samsonova, A, Vavoulis, DV, Ross, MT, Kingsbury, Z, Cabes, M, Ramos, SDC, Page, S, Dreau, H, Ridout, K, Jones, LJ, Tuff-Lacey, A, Henderson, S, Mason, J, Buffa, FM, Verrill, CL, Maldonado-Perez, D, Roxanis, I, Collantes, E, Browning, L, Dhar, S, Damato, SP, Davies, S, Caulfield, M, Bentley, DR, Taylor, JC, Turnbull, C, Schuh, A