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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. Mak CCY, et al. Among authors: christman ak. EBioMedicine. 2025 May;115:105677. doi: 10.1016/j.ebiom.2025.105677. Epub 2025 Apr 24. EBioMedicine. 2025. PMID: 40280028 Free PMC article.
SUFU haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum.
Serpieri V, D'Abrusco F, Dempsey JC, Cheng YH, Arrigoni F, Baker J, Battini R, Bertini ES, Borgatti R, Christman AK, Curry C, D'Arrigo S, Fluss J, Freilinger M, Gana S, Ishak GE, Leuzzi V, Loucks H, Manti F, Mendelsohn N, Merlini L, Miller CV, Muhammad A, Nuovo S, Romaniello R, Schmidt W, Signorini S, Siliquini S, Szczałuba K, Vasco G, Wilson M, Zanni G, Boltshauser E, Doherty D, Valente EM; University of Washington Center for Mendelian Genomics (UW-CMG) group. Serpieri V, et al. Among authors: christman ak. J Med Genet. 2022 Sep;59(9):888-894. doi: 10.1136/jmedgenet-2021-108114. Epub 2021 Oct 21. J Med Genet. 2022. PMID: 34675124 Free PMC article.