A comparison of structural variant calling from short-read and nanopore-based whole-genome sequencing using optical genome mapping as a benchmark by Pei, Y, Tanguy, M, Giess, A, Dixit, A, Wilson, LC, Gibbons, RJ, Twigg, SRF, Elgar, G, Wilkie, AOM

A gain-of-function single nucleotide variant creates a new promoter which acts as an orientation-dependent enhancer-blocker by Bozhilov, YK, Downes, DJ, Telenius, J, Marieke Oudelaar, A, Olivier, EN, Mountford, JC, Hughes, JR, Gibbons, RJ, Higgs, DR

The chromatin remodeller ATRX facilitates diverse nuclear processes, in a stochastic manner, in both heterochromatin and euchromatin by Truch, J, Downes, DJ, Scott, C, Gür, ER, Telenius, JM, Repapi, E, Schwessinger, R, Gosden, M, Brown, JM, Taylor, S, Cheong, PL, Hughes, JR, Higgs, DR, Gibbons, RJ

Refining the Primrose syndrome phenotype: A study of five patients with ZBTB20 de novo variants and a review of the literature by Cleaver, RJ, Berg, J, Craft, E, Foster, A, Gibbons, RJ, Hobson, E, Lachlan, K, Naik, S, Sampson, JR, Sharif, S, Smithson, S, Deciphering Developmental Disorders Study, Parker, MJ, Tatton-Brown, K

Mutant IDH1 promotes glioma formation in vivo by Philip, B, Yu, DX, Silvis, MR, Shin, CH, Robinson, JP, Robinson, GL, Welker, AE, Angel, SN, Tripp, SR, Sonnen, JA, VanBrocklin, MW, Gibbons, RJ, Looper, RE, Colman, H, Holmen, SL

A regulatory SNP causes a human genetic disease by creating a new transcriptional promoter by De Gobbi, M, Viprakasit, V, Hughes, JR, Fisher, C, Buckle, V, Ayyub, H, Gibbons, RJ, Vernimmen, D, Yoshinaga, Y, de Jong, P, Cheng, J-F, Rubin, EM, Wood, Wg, Bowden, D, Higgs, DR

An evolutionarily ancient mechanism for regulation of hemoglobin expression in vertebrate red cells by Miyata, M, Gillemans, N, Hockman, D, Demmers, JA, Cheng, J-F, Hou, J, Salminen, M, Fisher, C, Taylor, S, Gibbons, RJ, Ganis, JJ, Zon, LI, Grosveld, F, Mulugeta, E, Sauka-Spengler, T, Higgs, DR, Philipsen, S

Genetic and functional insights into CDA-I prevalence and pathogenesis by Olijnik, A-A, Scott, C, Roy, NB, Marsh, JA, Brown, J, Laushke, K, Ask, K, Roberts, N, Downes, DJ, Brolih, S, Johnson, E, Xella, B, Proven, M, Hipkiss, R, Ryan, K, Frisk, P, Johan, M, Stattin, E-LM, Sadasivam, N, McIlwaine, L, Hill, QA, Renella, R, Hughes, JR, Gibbons, RJ, Groth, A, McHugh, PJ, Higgs, DR, Buckle, VJ, Babbs, C