Phenotype and Genotype Correlations in Inherited Retinal Diseases: Population-Guided Variant Interpretation, Variable Expressivity and Incomplete Penetrance von Ellingford, JM, Hufnagel, RB, Arno, G

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Molecular diagnoses in the congenital malformations caused by ciliopathies cohort of the 100,000 Genomes Project von Best, S, Lord, J, Roche, M, Watson, CM, Poulter, JA, Bevers, RPJ, Stuckey, A, Szymanska, K, Ellingford, JM, Carmichael, J, Brittain, H, Toomes, C, Inglehearn, CF, Johnson, CA, Wheway, G, Genomics England Research Consortium

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Comparison of in silico strategies to prioritize rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders von Rowlands, C, Thomas, HB, Lord, J, Wai, HA, Arno, G, Beaman, G, Sergouniotis, P, Gomes-Silva, B, Campbell, C, Gossan, N, Hardcastle, C, Webb, K, O'Callaghan, C, Hirst, RA, Ramsden, S, Jones, E, Clayton-Smith, J, Webster, AR, Genomics England Research Consortium, Douglas, AGL, O'Keefe, RT, Newman, WG, Baralle, D, Black, GCM, Ellingford, JM

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100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care — Preliminary Report von 100,000 Genomes Project Pilot Investigators, Smedley, D, Thomas, EA, McDonagh, EM, Cipriani, V, Williams, HJ, Wei, W, Ibanez, K, Moutsianas, L, Wielscher, M, Need, A, Ashford, S, Twiss, P, Spasic-Boskovic, O, Halsall, S, Floto, RA, Poole, K, James, R, Mapeta, R, Kasanicki, M, Savage, H, Babcock, M, Baple, E, Boustred, C, Brittain, H, de Burca, A, Halai, D, Haraldsdottir, E, Patch, C, Matchan, A, Sultana, R, Tavares, ALT, Turnbull, C, Wood, S, Snow, C, Foulger, RE, Daugherty, LC, Niblock, O, Leong, IUS, Wright, CF, Davies, J, Crichton, C, Welch, J, Abulhoul, L, Bockenhauer, D, Footitt, E, Ganesan, V, Grunewald, S, Muntoni, F, Quinlivan, R, Wedderburn, LR, Worth, A, Bueser, T, Deshpande, C, Izatt, L, Josifova, D, Mohammed, S, Robert, L, Rose, S, Ruddy, D, Wolejko, A, Habib, B, Hunter, S, Grocock, RJ, Robinson, PN, Clayton-Smith, J, Douzgou, S, Hall, G, Thomas, HB, Malka, S, Browning, AC, Yu-Wai-Man, P, McFarland, R, O'Connor, E, Newland, K, Campbell, C, Koelling, N, Németh, AH, Patel, S, Sen, A, Taylor, J, Seaby, EG, Davison, V, Chitty, L, Temple, IK, Mumford, AD, Wilson, G, Beales, P, Black, G, Bradley, JR, Brennan, P, Burn, J, Irving, M, Newman, W, Rahman, S, Hill, S, Bentley, D, Scott, RH, Rendon, A, Caulfield, M

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Assessment of the incorporation of CNV surveillance into gene panel next-generation sequencing testing for inherited retinal diseases von Ellingford, JM, Horn, B, Campbell, C, Arno, G, Barton, S, Tate, C, Bhaskar, S, Sergouniotis, PI, Taylor, RL, Carss, KJ, Raymond, LFL, Michaelides, M, Ramsden, SC, Webster, AR, Black, GCM

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Validation of copy number variation analysis for next-generation sequencing diagnostics von Ellingford, JM, Campbell, C, Barton, S, Bhaskar, S, Gupta, S, Taylor, RL, Sergouniotis, PI, Horn, B, Lamb, JA, Michaelides, M, Webster, AR, Newman, WG, Panda, B, Ramsden, SC, Black, GCM

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Novel PEX11B Mutations Extend the Peroxisome Biogenesis Disorder 14B Phenotypic Spectrum and Underscore Congenital Cataract as an Early Feature von Taylor, RL, Handley, MT, Waller, S, Campbell, C, Urquhart, J, Meynert, AM, Ellingford, JM, Donnelly, D, Wilcox, G, Lloyd, IC, Mundy, H, FitzPatrick, DR, Deshpande, C, Clayton-Smith, J, Black, GC

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Mutations in the polyglutamylase gene TTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility von Bedoni, N, Haer-Wigman, L, Vaclavik, V, Tran, VH, Farinelli, P, Balzano, S, Royer-Bertrand, B, El-Asrag, ME, Bonny, O, Ikonomidis, C, Litzistorf, Y, Nikopoulos, K, Yioti, GG, Stefaniotou, MI, McKibbin, M, Booth, AP, Ellingford, JM, Black, GC, Toomes, C, Inglehearn, CF, Hoyng, CB, Bax, N, Klaver, CCW, Thiadens, AA, Murisier, F, Schorderet, DF, Ali, M, Cremers, FPM, Andréasson, S, Munier, FL, Rivolta, C

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