Biallelic mutation of ARHGEF18, involved in the determination of epithelial apicobasal polarity, causes adult-onset retinal degeneration by Arno, G, Carss, KJ, Hull, S, Zihni, C, Robson, AG, Fiorentino, A, UK Inherited Retinal Disease Consortium, Hardcastle, AJ, Holder, GE, Cheetham, ME, Plagnol, V, NIHR Bioresource - Rare Diseases Consortium, Moore, AT, Raymond, FL, Matter, K, Balda, MS, Webster, AR

Analysis of 51 proposed hypertrophic cardiomyopathy genes from genome sequencing data in sarcomere negative cases has negligible diagnostic yield by Thomson, K, Ormondroyd, E, Harper, A, Dent, T, McGuire, K, Baksi, J, Blair, E, Brennan, P, Buchan, R, Bueser, T, Campbell, C, Carr-White, G, Cook, S, Daniels, M, Deevi, S, Goodship, J, Hayesmoore, J, Henderson, A, Lamb, T, Prasad, S, Rayner-Matthews, P, Robert, L, Sneddon, L, Stark, H, Walsh, R, Ware, J, Farrall, M, Watkins, H, Nihr Bioresource – Rare Diseases Consortium

Comprehensive rare variant analysis via whole-genome sequencing to determine the molecular pathology of inherited retinal disease by Carss, K, Arno, G, Erwood, M, Stephens, J, Sanchis-Juan, A, Hull, S, Megy, K, Grozeva, D, Dewhurst, E, Malka, S, Plagnol, V, Penkett, C, Stirrups, K, Rizzo, R, Wright, G, Josifova, D, Bitner-Glindzicz, M, Scott, R, Clement, E, Allen, L, Armstrong, R, Brady, A, Carmichael, J, Chitre, M, Henderson, R, Hurst, J, Maclaren, R, Murphy, E, Paterson, J, Rosser, E, Thompson, D, Wakeling, E, Ouwehand, W, Michaelides, M, Moore, A, Nihr-Bioresource Rare Diseases Consortium, Webster, A, Raymond, F

Genetic determinants of risk in pulmonary arterial hypertension: international genome-wide association studies and meta-analysis by Rhodes, CJ, Batai, K, Bleda, M, Haimel, M, Southgate, L, Germain, M, Pauciulo, MW, Hadinnapola, C, Aman, J, Girerd, B, Arora, A, Knight, J, Hanscombe, KB, Karnes, JH, Kaakinen, M, Gall, H, Ulrich, A, Harbaum, L, Cebola, I, Ferrer, J, Lutz, K, Swietlik, EM, Ahmad, F, Amouyel, P, Archer, SL, Argula, R, Austin, ED, Badesch, D, Bakshi, S, Barnett, C, Benza, R, Bhatt, N, Bogaard, HJ, Burger, CD, Chakinala, M, Church, C, Coghlan, JG, Condliffe, R, Corris, PA, Danesino, C, Debette, S, Elliott, CG, Elwing, J, Eyries, M, Fortin, T, Franke, A, Frantz, RP, Frost, A, Garcia, JGN, Ghio, S, Ghofrani, H-A, Gibbs, JSR, Harley, J, He, H, Hill, NS, Hirsch, R, Houweling, AC, Howard, LS, Ivy, D, Kiely, DG, Klinger, J, Kovacs, G, Lahm, T, Laudes, M, Machado, RD, Ross, RV, Marsolo, K, Martin, LJ, Moledina, S, Montani, D, Nathan, SD, Newnham, M, Olschewski, A, Olschewski, H, Oudiz, RJ, Ouwehand, WH, Peacock, AJ, Pepke-Zaba, J, Rehman, Z, Robbins, I, Roden, DM, Rosenzweig, EB, Saydain, G, Scelsi, L, Schilz, R, Seeger, W, Shaffer, CM, Simms, RW, Simon, M, Sitbon, O, Suntharalingam, J, Tang, H, Tchourbanov, AY, Thenappan, T, Torres, F, Toshner, MR, Treacy, CM, Noordegraaf, A, Waisfisz, Q, Walsworth, AK, Walter, RE, Wharton, J, White, RJ, Wilt, J, Wort, SJ, Yung, D, Lawrie, A, Humbert, M, Soubrier, F, Trégouët, D-A, Prokopenko, I, Kittles, R, Gräf, S, Nichols, WC, Trembath, RC, Desai, AA, Morrell, NW, Wilkins, MR, UK NIHR Bioresource Rare Diseases Consortium, UK PAH Cohort Study Consortium, US PAH Biobank Consortium, McCarthy, M