Best, S, Lord, J, Roche, M, Watson, C M, Poulter, J A, Bevers, R P J, Stuckey, A, Szymanska, K, Ellingford, J M, Carmichael, J, Brittain, H, Toomes, C, Inglehearn, C, Johnson, C A & Wheway, G 2021, ' Molecular diagnoses in the congenital malformations caused by ciliopathies cohort of the 100,000 Genomes Project ', Journal of Medical Genetics . https://doi.org/10.1136/jmedgenet-2021-108065