@article{article, title  = {{Molecular diagnoses in the congenital malformations caused by ciliopathies cohort of the 100,000 Genomes Project}},

 publisher = {{BMJ}},

 url = {{https://doi.org/10.1136/jmedgenet-2021-108065 }},

 year = {{2021}},

 month = {{10}},

 author = {{Best S and Lord J and Roche M and Watson CM and Poulter JA and Bevers RPJ and Stuckey A and Szymanska K and Ellingford JM and Carmichael J and Brittain H et al}},

 doi = {{10.1136/jmedgenet-2021-108065}},

 volume = {{59}},

 journal = {{Journal of Medical Genetics}},

 issue = {{8}},

 pages = {{737-747}},

 note = {{Accessed on 2026/01/25}}}