Returning genome sequences to research participants: policy and practice מאת Wright, CF, Middleton, A, Barrett, JC, Firth, HV, FitzPatrick, DR, Hurles, ME, Parker, M

Genotype-phenotype correlations in Cornelia de Lange syndrome: Behavioral characteristics and changes with age מאת Moss, J, Penhallow, J, Ansari, M, Barton, S, Bourn, D, FitzPatrick, DR, Goodship, J, Hammond, P, Roberts, C, Welham, A, Oliver, C

Genomic diagnosis of rare pediatric disease in the United Kingdom and Ireland מאת Wright, CF, Campbell, P, Eberhardt, RY, Aitken, S, Perrett, D, Brent, S, Danecek, P, Gardner, EJ, Chundru, VK, Lindsay, SJ, Andrews, K, Hampstead, J, Kaplanis, J, Samocha, KE, Middleton, A, Foreman, J, Hobson, RJ, Parker, MJ, Martin, HC, FitzPatrick, DR, Hurles, ME, Firth, HV

The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data. מאת Köhler, S, Doelken, S, Mungall, C, Bauer, S, Firth, H, Bailleul-Forestier, I, Black, G, Brown, D, Brudno, M, Campbell, J, FitzPatrick, DR, Eppig, J, Jackson, A, Freson, K, Girdea, M, Helbig, I, Hurst, J, Jähn, J, Jackson, L, Kelly, A, Ledbetter, D, Mansour, S, Martin, C, Moss, C, Mumford, A