Associated Papers
Assessing the contribution of rare protein-coding germline variants to prostate cancer risk and severity in 37,184 cases.
Mitchell J et al.
Nature Communications, 2025
Characterising the contribution of rare protein-coding germline variants to prostate cancer risk and severity in 37,184 cases.
Mitchell J et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development.
Baetens D et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
27490115 (PubMed )
Supplement: gim2016118x1.zip › 20160703_supplemental_data_FINAL_160706.docx
Evaluation of in silico splice tools for decision-making in molecular diagnosis.
Houdayer C et al.
Human Mutation, 2008
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