@article{article, title = {{Uncovering the burden of hidden ciliopathies in the 100 000 Genomes Project: a reverse phenotyping approach}}, publisher = {{BMJ}}, url = {{https://eprints.whiterose.ac.uk/id/eprint/207865 http://dx.doi.org/10.1136/jmedgenet-2022-108476 }}, year = {{2022}}, month = {{6}}, author = {{Best S and Yu J and Lord J and Roche M and Watson CM and Bevers RPJ and Stuckey A and Madhusudhan S and Jewell R and Sisodiya SM and Lin S et al}}, doi = {{10.1136/jmedgenet-2022-108476}}, volume = {{59}}, journal = {{Journal of Medical Genetics}}, pages = {{1151-1164}}, note = {{Accessed on 2026/01/25}}}