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Newborn screening for Duchenne muscular dystrophy-early detection and diagnostic algorithm for female carriers of Duchenne muscular dystrophy.
Gruber D, Lloyd-Puryear M, Armstrong N, Scavina M, Tavakoli NP, Brower AM, Caggana M, Chung WK. Gruber D, et al. Among authors: chung wk. Am J Med Genet C Semin Med Genet. 2022 Jun;190(2):197-205. doi: 10.1002/ajmg.c.32000. Epub 2022 Sep 24. Am J Med Genet C Semin Med Genet. 2022. PMID: 36152336 Free PMC article. Review.
The genetics of isolated congenital heart disease.
Nees SN, Chung WK. Nees SN, et al. Among authors: chung wk. Am J Med Genet C Semin Med Genet. 2020 Mar;184(1):97-106. doi: 10.1002/ajmg.c.31763. Epub 2019 Dec 26. Am J Med Genet C Semin Med Genet. 2020. PMID: 31876989 Free PMC article. Review.
Implementation of population-based newborn screening reveals low incidence of spinal muscular atrophy.
Kay DM, Stevens CF, Parker A, Saavedra-Matiz CA, Sack V, Chung WK, Chiriboga CA, Engelstad K, Laureta E, Farooq O, Ciafaloni E, Lee BH, Malek S, Treidler S, Anziska Y, Delfiner L, Sakonju A, Caggana M. Kay DM, et al. Among authors: chung wk. Genet Med. 2020 Aug;22(8):1296-1302. doi: 10.1038/s41436-020-0824-3. Epub 2020 May 18. Genet Med. 2020. PMID: 32418989 Free article.
Rare genetic variation at transcription factor binding sites modulates local DNA methylation profiles.
Martin-Trujillo A, Patel N, Richter F, Jadhav B, Garg P, Morton SU, McKean DM, DePalma SR, Goldmuntz E, Gruber D, Kim R, Newburger JW, Porter GA Jr, Giardini A, Bernstein D, Tristani-Firouzi M, Seidman JG, Seidman CE, Chung WK, Gelb BD, Sharp AJ. Martin-Trujillo A, et al. Among authors: chung wk. PLoS Genet. 2020 Nov 20;16(11):e1009189. doi: 10.1371/journal.pgen.1009189. eCollection 2020 Nov. PLoS Genet. 2020. PMID: 33216750 Free PMC article.
Improving Recruitment for a Newborn Screening Pilot Study with Adaptations in Response to the COVID-19 Pandemic.
Wynn J, Tavakoli NP, Armstrong N, Gomez J, Koval C, Lai C, Tang S, Quevedo Prince A, Quevedo Y, Rufino K, Palacio Morales L, Pena A, Grossman S, Monfiletto M, Ruda E, Jimenez V, Verdade L, Jones A, Barriga MG, Karan N, Puma A, Sarker S, Chin S, Duarte K, Tegay DH, Bacchus I, Julooru R, Maloney B, Park S, Saami AM, Cohen L, Shapiro N, Caggana M, Chung WK, Gruber D. Wynn J, et al. Among authors: chung wk. Int J Neonatal Screen. 2022 Mar 22;8(2):23. doi: 10.3390/ijns8020023. Int J Neonatal Screen. 2022. PMID: 35466194 Free PMC article.
1,027 results