Genetic & Genomic MedicineAmerican Journal of Medical Genetics Part APeer-reviewed
Craniofacial features of 3q29 deletion syndrome: application of next generation phenotyping technology.
Bryan C. Mak, Rossana Sanchez Russo, Michael J. Gambello…·Jennifer Gladys Mulle
This study identifies a recognizable craniofacial phenotype in 3q29 deletion syndrome using 2D facial photos and machine learning to distinguish cases from controls.