@article{article, title  = {{Systematic identification of disease-causing promoter and untranslated region variants in 8040 undiagnosed individuals with rare disease}},

 publisher = {{Springer Science and Business Media LLC}},

 url = {{https://doi.org/10.1186/s13073-025-01464-2 }},

 year = {{2025}},

 month = {{4}},

 author = {{Martin-Geary AC and Blakes AJM and Dawes R and Findlay SD and Lord J and Dong S and Walker S and Talbot-Martin J and Wieder N and D’Souza EN and Fernandes M et al}},

 doi = {{10.1186/s13073-025-01464-2}},

 volume = {{17}},

 journal = {{Genome Medicine}},

 issue = {{1}},

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