AMELIE speeds Mendelian diagnosis by matching patient phenotype and genotype to primary literatureJohannes Birgmeier, Gill Bejerano, Karthik A. Jagadeesh et al.|Science Translational Medicine|2020Cited by 125
ClinPhen extracts and prioritizes patient phenotypes directly from medical records to expedite genetic disease diagnosisCole A. Deisseroth, Gill Bejerano, Johannes Birgmeier et al.|Genetics in Medicine|2018Cited by 113