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2022 31
2023 3
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A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases.
Kingsmore SF, Smith LD, Kunard CM, Bainbridge M, Batalov S, Benson W, Blincow E, Caylor S, Chambers C, Del Angel G, Dimmock DP, Ding Y, Ellsworth K, Feigenbaum A, Frise E, Green RC, Guidugli L, Hall KP, Hansen C, Hobbs CA, Kahn SD, Kiel M, Van Der Kraan L, Krilow C, Kwon YH, Madhavrao L, Le J, Lefebvre S, Mardach R, Mowrey WR, Oh D, Owen MJ, Powley G, Scharer G, Shelnutt S, Tokita M, Mehtalia SS, Oriol A, Papadopoulos S, Perry J, Rosales E, Sanford E, Schwartz S, Tran D, Reese MG, Wright M, Veeraraghavan N, Wigby K, Willis MJ, Wolen AR, Defay T. Kingsmore SF, et al. Am J Hum Genet. 2022 Sep 1;109(9):1605-1619. doi: 10.1016/j.ajhg.2022.08.003. Epub 2022 Aug 24. Am J Hum Genet. 2022. PMID: 36007526 Free PMC article. Review.
Neurological assessment of newborns with spinal muscular atrophy identified through neonatal screening.
Pane M, Donati MA, Cutrona C, De Sanctis R, Pirinu M, Coratti G, Ricci M, Palermo C, Berti B, Leone D, Ticci C, Sacchini M, Cerboneschi M, Capasso A, Cicala G, Pera MC, Bravetti C, Abiusi E, Vaisfeld A, Vento G, Tiziano FD, Mercuri E. Pane M, et al. Eur J Pediatr. 2022 Jul;181(7):2821-2829. doi: 10.1007/s00431-022-04470-3. Epub 2022 May 6. Eur J Pediatr. 2022. PMID: 35522315 Free PMC article.
A Window of Opportunity for Newborn Screening.
Bailey DB Jr. Bailey DB Jr. Mol Diagn Ther. 2022 May;26(3):253-261. doi: 10.1007/s40291-022-00590-6. Epub 2022 May 4. Mol Diagn Ther. 2022. PMID: 35507129 Free PMC article.
Special issue: Newborn screening research.
Brower A, Chan K. Brower A, et al. Am J Med Genet C Semin Med Genet. 2022 Jun;190(2):135-137. doi: 10.1002/ajmg.c.32007. Epub 2022 Oct 10. Am J Med Genet C Semin Med Genet. 2022. PMID: 36214312 Free PMC article.
Parents' views on accepting, declining, and expanding newborn bloodspot screening.
van der Pal SM, Wins S, Klapwijk JE, van Dijk T, Kater-Kuipers A, van der Ploeg CPB, Jans SMPJ, Kemp S, Verschoof-Puite RK, van den Bosch LJM, Henneman L. van der Pal SM, et al. PLoS One. 2022 Aug 18;17(8):e0272585. doi: 10.1371/journal.pone.0272585. eCollection 2022. PLoS One. 2022. PMID: 35980961 Free PMC article.
33 results