Indigenous-led precision public health: a new starting point by Baxter, MF, Collins-Clinch, A, Doxzen, K, Thomas, Y, Rind, S, O’Donnell, V, Baynam, G

Carpenter syndrome: extended RAB23 mutation spectrum and analysis of nonsense-mediated mRNA decay. by Jenkins, D, Baynam, G, De Catte, L, Elcioglu, N, Gabbett, M, Hudgins, L, Hurst, J, Jehee, F, Oley, C, Wilkie, A

Mutation screening of fumarate hydratase by multiplex ligation-dependent probe amplification: detection of exonic deletion in a patient with leiomyomatosis and renal cell cancer. by Ahvenainen, T, Lehtonen, H, Lehtonen, R, Vahteristo, P, Aittomäki, K, Baynam, G, Dommering, C, Eng, C, Gruber, S, Grönberg, H, Harvima, R, Herva, R, Hietala, M, Kujala, M, Kääriäinen, H, Sunde, L, Vierimaa, O, Pollard, P, Tomlinson, I, Björck, E, Aaltonen, L, Launonen, V

The Human Phenotype Ontology in 2024: phenotypes around the world by Gargano, MA, Matentzoglu, N, Coleman, B, Addo-Lartey, EB, Anagnostopoulos, A, Anderton, J, Avillach, P, Bagley, AM, Bakštein, E, Balhoff, JP, Baynam, G, Bello, SM, Berk, M, Bertram, H, Bishop, S, Blau, H, Bodenstein, DF, Botas, P, Boztug, K, Čady, J, Callahan, TJ, Cameron, R, Carbon, S, Castellanos, F, Sanders, SJ

The case for open science: rare diseases by Rubinstein, YR, Robinson, PN, Gahl, WA, Avillach, P, Baynam, G, Cederroth, H, Goodwin, RM, Groft, SC, Hansson, MG, Harris, NL, Huser, V, Mascalzoni, D, McMurry, JA, Might, M, Nellaker, C, Mons, B, Paltoo, DN, Pevsner, J, Posada, M, Rockett-Frase, AP, Roos, M, Rubinstein, TB, Taruscio, D, van Enckevort, E, Haendel, MA

Enabling global clinical collaborations on identifiable patient data: The Minerva Initiative by Nellåker, C, Alkuraya, FS, Baynam, G, Bernier, RA, Bernier, FPJ, Boulanger, V, Brudno, M, Brunner, HG, Clayton-Smith, J, Cogné, B, Dawkins, HJS, Devries, BBA, Douzgou, S, Dudding-Byth, T, Eichler, EE, Ferlaino, M, Fieggen, K, Firth, HV, Fitzpatrick, DR, Gration, D, Groza, T, Haendel, M, Hallowell, N, Hamosh, A, Hehir-Kwa, J, Hitz, M-P, Hughes, M, Kini, U, Kleefstra, T, Kooy, RF, Krawitz, P, Küry, S, Lees, M, Lyon, GJ, Lyonnet, S, Marcadier, JL, Meyn, S, Moslerová, V, Politei, JM, Poulton, CC, Raymond, FL, Reijnders, MRF, Robinson, PN, Romano, C, Rose, CM, Sainsbury, DCG, Schofield, L, Sutton, VR, Turnovec, M, Van Dijck, A, Van Esch, H, Wilkie, AOM