@article{article, title  = {{Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with de novo, heterozygous, loss-of-function mutations in ASXL3 and review of published literature}},

 publisher = {{ BMJ Publishing Group}},

 url = {{https://eprints.whiterose.ac.uk/id/eprint/111093 }},

 year = {{2017}},

 month = {{1}},

 author = {{Balasubramanian M and Willoughby J and Fry AE and Weber A and Firth HV and Deshpande C and Berg JN and Chandler K and Metcalfe KA and Lam W and Pilz D et al}},

 doi = {{10.1136/jmedgenet-2016-104360}},

 volume = {{54}},

 journal = {{Journal of Medical Genetics}},

 issue = {{8}},

 pages = {{537-543}},

 note = {{Accessed on 2025/11/06}}}