Artificial intelligence-driven genotype-epigenotype-phenotype approaches to resolve challenges in syndrome diagnostics.
Mak CCY, Klinkhammer H, Choufani S, Reko N, Christman AK, Pisan E, Chui MMC, Lee M, Leduc F, Dempsey JC, Sanchez-Lara PA, Bombei HM, Bernat JA, Faivre L, Mau-Them FT, Palafoll IV, Canham N, Sarkar A, Zarate YA, Callewaert B, Bukowska-Olech E, Jamsheer A, Zankl A, Willems M, Duncan L, Isidor B, Cogne B, Boute O, Vanlerberghe C, Goldenberg A, Stolerman E, Low KJ, Gilard V, Amiel J, Lin AE, Gordon CT, Doherty D, Krawitz PM, Weksberg R, Hsieh TC, Chung BHY. Artificial intelligence-driven genotype-epigenotype-phenotype approaches to resolve challenges in syndrome diagnostics. EBioMedicine. 2025 May; 115:105677.