Nana E. Mensah

Automated application of novel gene-disease associations to scale reanalysis of undiagnosed patients

M. Irving, A. Sabir, W. Roworth, 2020, medRxiv.

Copy number-aware deconvolution of tumor-normal DNA methylation profiles

P. Dhami, P. Van Loo, S. Beck, 2020, bioRxiv.

Automated reanalysis application to assist in detecting novel gene-disease associations following genome sequencing

M. Irving, J. W. Ahn, N. E. Mensah, 2021, Genetics in Medicine.

Automated reanalysis, a novel way to diagnose an ultra-rare condition: Fibronectin-1-related spondylometaphyseal dysplasia (SMD-FN1)

M. Irving, J. W. Ahn, M. Cheung, 2021, Clinical dysmorphology.