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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
Enhancing Fabry disease screening and diagnostic efficiency: Integration of enzyme, biomarker, and next-generation sequencing testing.
Pan Y, Sniderman King L, Vengoechea E, Liu R, Chen-Deutsch X, Smith S, Wang Y, da Silva C, Chakraborty P, Kallu E, Nallamilli BRR, Donti T, Walter A, Kazemi S, Hegde M. Pan Y, et al. Among authors: vengoechea e. Mol Genet Metab. 2025 May;145(1):109082. doi: 10.1016/j.ymgme.2025.109082. Epub 2025 Mar 15. Mol Genet Metab. 2025. PMID: 40138980
Increased parental anxiety and a benign clinical course: Infants identified with short-chain acyl-CoA dehydrogenase deficiency and isobutyryl-CoA dehydrogenase deficiency through newborn screening in Georgia.
Sadat R, Hall PL, Wittenauer AL, Vengoechea ED, Park K, Hagar AF, Singh R, Moore RH, Gambello MJ. Sadat R, et al. Among authors: vengoechea ed. Mol Genet Metab. 2020 Jan;129(1):20-25. doi: 10.1016/j.ymgme.2019.11.008. Epub 2019 Nov 27. Mol Genet Metab. 2020. PMID: 31813752