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141 results

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Page 1
Expanded Newborn Screening Using Genome Sequencing for Early Actionable Conditions.
Ziegler A, Koval-Burt C, Kay DM, Suchy SF, Begtrup A, Langley KG, Hernan R, Amendola LM, Boyd BM, Bradley J, Brandt T, Cohen LL, Coffey AJ, Devaney JM, Dygulska B, Friedman B, Fuleihan RL, Gyimah A, Hahn S, Hofherr S, Hruska KS, Hu Z, Jeanne M, Jin G, Johnson DA, Kavus H, Leibel RL, Lobritto SJ, McGee S, Milner JD, McWalter K, Monaghan KG, Orange JS, Pimentel Soler N, Quevedo Y, Ratner S, Retterer K, Shah A, Shapiro N, Sicko RJ, Silver ES, Strom S, Torene RI, Williams O, Ustach VD, Wynn J, Taft RJ, Kruszka P, Caggana M, Chung WK. Ziegler A, et al. Among authors: caggana m. JAMA. 2024 Oct 24:e2419662. doi: 10.1001/jama.2024.19662. Online ahead of print. JAMA. 2024. PMID: 39446378
Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States.
Kwan A, Abraham RS, Currier R, Brower A, Andruszewski K, Abbott JK, Baker M, Ballow M, Bartoshesky LE, Bonilla FA, Brokopp C, Brooks E, Caggana M, Celestin J, Church JA, Comeau AM, Connelly JA, Cowan MJ, Cunningham-Rundles C, Dasu T, Dave N, De La Morena MT, Duffner U, Fong CT, Forbes L, Freedenberg D, Gelfand EW, Hale JE, Hanson IC, Hay BN, Hu D, Infante A, Johnson D, Kapoor N, Kay DM, Kohn DB, Lee R, Lehman H, Lin Z, Lorey F, Abdel-Mageed A, Manning A, McGhee S, Moore TB, Naides SJ, Notarangelo LD, Orange JS, Pai SY, Porteus M, Rodriguez R, Romberg N, Routes J, Ruehle M, Rubenstein A, Saavedra-Matiz CA, Scott G, Scott PM, Secord E, Seroogy C, Shearer WT, Siegel S, Silvers SK, Stiehm ER, Sugerman RW, Sullivan JL, Tanksley S, Tierce ML 4th, Verbsky J, Vogel B, Walker R, Walkovich K, Walter JE, Wasserman RL, Watson MS, Weinberg GA, Weiner LB, Wood H, Yates AB, Puck JM, Bonagura VR. Kwan A, et al. Among authors: caggana m. JAMA. 2014 Aug 20;312(7):729-38. doi: 10.1001/jama.2014.9132. JAMA. 2014. PMID: 25138334 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: caggana m. Int J Neonatal Screen. 2022 Mar 22;8(2):23. doi: 10.3390/ijns8020023. Int J Neonatal Screen. 2022. PMID: 35466194 Free PMC article.
Utility of Newborn Dried Blood Spots to Ascertain Seroprevalence of SARS-CoV-2 Antibodies Among Individuals Giving Birth in New York State, November 2019 to November 2021.
Damjanovic A, Styer LM, Nemeth K, Yauney E, Rock JM, Bievenue R, Hoen R, Ehrbar D, Kay DM, Caggana M, Parker MM. Damjanovic A, et al. Among authors: caggana m. JAMA Netw Open. 2022 Aug 1;5(8):e2227995. doi: 10.1001/jamanetworkopen.2022.27995. JAMA Netw Open. 2022. PMID: 35994287 Free PMC article.
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: caggana m. 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.
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: caggana m. 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.
Copy number variants in hypoplastic right heart syndrome.
Giannakou A, Sicko RJ, Kay DM, Zhang W, Romitti PA, Caggana M, Shaw GM, Jelliffe-Pawlowski LL, Mills JL. Giannakou A, et al. Among authors: caggana m. Am J Med Genet A. 2018 Dec;176(12):2760-2767. doi: 10.1002/ajmg.a.40527. Epub 2018 Oct 5. Am J Med Genet A. 2018. PMID: 30289599
141 results