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Did you mean otopsaltis l (1,804,788 results)?
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 Free article.
Early Newborn Metabolic Patterning and Sudden Infant Death Syndrome.
Oltman SP, Rogers EE, Baer RJ, Amsalu R, Bandoli G, Chambers CD, Cho H, Dagle JM, Karvonen KL, Kingsmore SF, McKenzie-Sampson S, Momany A, Ontiveros E, Protopsaltis LD, Rand L, Kobayashi ES, Steurer MA, Ryckman KK, Jelliffe-Pawlowski LL. Oltman SP, et al. Among authors: protopsaltis ld. JAMA Pediatr. 2024 Nov 1;178(11):1183-1191. doi: 10.1001/jamapediatrics.2024.3033. JAMA Pediatr. 2024. PMID: 39250160 Free PMC article.
Prequalification of genome-based newborn screening for severe childhood genetic diseases through federated training based on purifying hyperselection.
Kingsmore SF, Wright M, Smith LD, Liang Y, Mowrey WR, Protopsaltis L, Bainbridge M, Baker M, Batalov S, Blincow E, Cao B, Caylor S, Chambers C, Ellsworth K, Feigenbaum A, Frise E, Guidugli L, Hall KP, Hansen C, Kiel M, Van Der Kraan L, Krilow C, Kwon H, Madhavrao L, Lefebvre S, Leipzig J, Mardach R, Moore B, Oh D, Olsen L, Ontiveros E, Owen MJ, Reimers R, Scharer G, Schleit J, Shelnutt S, Mehtalia SS, Oriol A, Sanford E, Schwartz S, Wigby K, Willis MJ, Yandell M, Kunard CM, Defay T. Kingsmore SF, et al. Among authors: protopsaltis l. Am J Hum Genet. 2024 Dec 5;111(12):2618-2642. doi: 10.1016/j.ajhg.2024.10.021. Am J Hum Genet. 2024. PMID: 39642867 Free PMC article.
Genome-based newborn screening for severe childhood genetic diseases has high positive predictive value and sensitivity in a NICU pilot trial.
Kingsmore SF, Wright M, Olsen L, Schultz B, Protopsaltis L, Averbuj D, Blincow E, Carroll J, Caylor S, Defay T, Ellsworth K, Feigenbaum A, Gover M, Guidugli L, Hansen C, Van Der Kraan L, Kunard CM, Kwon H, Madhavrao L, Leipzig J, Liang Y, Mardach R, Mowrey WR, Nguyen H, Niemi AK, Oh D, Saad M, Scharer G, Schleit J, Mehtalia SS, Sanford E, Smith LD, Willis MJ, Wigby K, Reimers R. Kingsmore SF, et al. Among authors: protopsaltis l. Am J Hum Genet. 2024 Dec 5;111(12):2643-2667. doi: 10.1016/j.ajhg.2024.10.020. Am J Hum Genet. 2024. PMID: 39642868 Free PMC article.
Clinical utility and cost-effectiveness of BeginNGS newborn screening by genome sequencing and standard newborn screening for severe childhood genetic diseases: an adaptive, international and comparative clinical trial.
Reimers R, Bailey M, Brown C, Chan K, Defay T, Finkel T, Kahn S, Protopsaltis L, Stoddard L, Talati AJ, Wigby K, Akil ASA, Wright M, Kingsmore SF; BeginNGS Consortium. Reimers R, et al. Among authors: protopsaltis l. BMJ Open. 2025 Nov 13;15(11):e098609. doi: 10.1136/bmjopen-2024-098609. BMJ Open. 2025. PMID: 41238356 Free PMC article. Clinical Trial.
Operationalizing the Wilson-Jungner principles for the genomics era: Consensus recommendations from the International Consortium on Newborn Sequencing.
Downie L, Yeo J, Minten T, Heald R, Ansel D, Baker M, Balciuniene J, Berg JS, Boemer F, Chung WK, Cope HL, Eckstein DJ, Encina N, Faivre L, Ferlini A, García-Villoria J, Gelb MH, González De Aledo-Castillo JM, Golden-Grant K, Parad RB, Shah N, Stark Z, Sund KL, Tsipouras P, To M, Bick D, Green RC; International Consortium on Newborn Sequencing; Gold NB. Downie L, et al. Genet Med. 2026 Jan;28(1):101618. doi: 10.1016/j.gim.2025.101618. Epub 2025 Oct 24. Genet Med. 2026. PMID: 41765866
Genome x Environment analysis of Sudden Unexpected Infant Death unveils etiologic heterogeneity and strong cannabis and genetic disease risks.
Kingsmore SF, Bandoli G, Helbling DC, Baer R, Blincow E, Cao B, Frise E, Heinen A, Jelliffe-Pawlowski L, Kobayashi ES, Kraan LV, Kwon H, Lavy R, Moore B, Oh D, Oltman S, Eric Ontiveros, Protopsaltis L, Yandell M, Chambers CD. Kingsmore SF, et al. Among authors: protopsaltis l. medRxiv [Preprint]. 2025 Nov 28:2025.11.26.25341098. doi: 10.1101/2025.11.26.25341098. medRxiv. 2025. PMID: 41358299 Free PMC article. Preprint.