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Data-driven consideration of genetic disorders for global genomic newborn screening programs.
Minten T, Bick S, Adelson S, Gehlenborg N, Amendola LM, Boemer F, Coffey AJ, Encina N, Ferlini A, Kirschner J, Russell BE, Servais L, Sund KL, Taft RJ, Tsipouras P, Zouk H; ICoNS Gene List Contributors; Bick D; International Consortium on Newborn Sequencing (ICoNS); Green RC, Gold NB. Minten T, et al. Genet Med. 2025 Jul;27(7):101443. doi: 10.1016/j.gim.2025.101443. Epub 2025 May 9. Genet Med. 2025. PMID: 40357684
Genomic Screening Consortium for Australian Newborns (GenSCAN).
Taylor N, Pirreca M, Bennetts B, Ho G, Boggs K, Kassahn KS, Anastasi L, Godler DE, Alshawsh M, Norris S, Scarfe J, Boughtwood T, Baynam G, Burns B, Ranieri E, Caruana J, Lunke S, Best S, Stark Z. Taylor N, et al. Among authors: pirreca m. J Paediatr Child Health. 2025 Sep;61(9):1438-1443. doi: 10.1111/jpc.70131. Epub 2025 Jul 5. J Paediatr Child Health. 2025. PMID: 40616503 Free PMC article. Review.