CAGI6 ID panel challenge: assessment of phenotype and variant predictions in 415 children with neurodevelopmental disorders (NDDs).
Aspromonte MC, Del Conte A, Zhu S, Tan W, Shen Y, Zhang Y, Li Q, Wang MH, Babbi G, Bovo S, Martelli PL, Casadio R, Althagafi A, Toonsi S, Kulmanov M, Hoehndorf R, Katsonis P, Williams A, Lichtarge O, Xian S, Surento W, Pejaver V, Mooney SD, Sunderam U, Srinivasan R, Murgia A, Piovesan D, Tosatto SCE, Leonardi E.
Aspromonte MC, et al. Among authors: wang mh.
Hum Genet. 2025 Jan 9. doi: 10.1007/s00439-024-02722-w. Online ahead of print.
Hum Genet. 2025.
PMID: 39786577