• Population‑specific facial traits and diagnosis accuracy of genetic and rare diseases in an admixed Colombian population 

      Echeverry Quiceno, Luis Miguel; Candelo Gomez, Estephania; Gómez, Eidith; Solís, Paula; Ramírez, Diana; Ortiz, Diana; González, Alejandro; Sevillano, Xavier; Cuéllar, Juan Carlos; Pachajoa, Harry; Martínez-Abadías, Neus (Scientific reports (Nature Publishing Group), 2023, 2023-04-27)
      Up to 40% of rare disorders (RD) present facial dysmorphologies, and visual assessment is commonly used for clinical diagnosis. Quantitative approaches are more objective, but mostly rely on European ...