@article{article, title = {{Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families}}, publisher = {{Springer Science and Business Media LLC}}, url = {{https://eprints.whiterose.ac.uk/134793/ }}, year = {{2015}}, month = {{10}}, author = {{Akawi N and McRae J and Ansari M and Balasubramanian M and Blyth M and Brady AF and Clayton S and Cole T and Deshpande C and Fitzgerald TW and Foulds N et al}}, doi = {{10.1038/ng.3410}}, volume = {{47}}, journal = {{Nature Genetics}}, issue = {{11}}, pages = {{1363-1369}}, note = {{Accessed on 2024/12/22}}}