Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

76 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
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: lloyd puryear 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.
Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project.
McHugh D, Cameron CA, Abdenur JE, Abdulrahman M, Adair O, Al Nuaimi SA, Åhlman H, Allen JJ, Antonozzi I, Archer S, Au S, Auray-Blais C, Baker M, Bamforth F, Beckmann K, Pino GB, Berberich SL, Binard R, Boemer F, Bonham J, Breen NN, Bryant SC, Caggana M, Caldwell SG, Camilot M, Campbell C, Carducci C, Bryant SC, Caggana M, Caldwell SG, Camilot M, Campbell C, Carducci C, Cariappa R, Carlisle C, Caruso U, Cassanello M, Castilla AM, Ramos DE, Chakraborty P, Chandrasekar R, Ramos AC, Cheillan D, Chien YH, Childs TA, Chrastina P, Sica YC, de Juan JA, Colandre ME, Espinoza VC, Corso G, Currier R, Cyr D, Czuczy N, D'Apolito O, Davis T, de Sain-Van der Velden MG, Delgado Pecellin C, Di Gangi IM, Di Stefano CM, Dotsikas Y, Downing M, Downs SM, Dy B, Dymerski M, Rueda I, Elvers B, Eaton R, Eckerd BM, El Mougy F, Eroh S, Espada M, Evans C, Fawbush S, Fijolek KF, Fisher L, Franzson L, Frazier DM, Garcia LR, Bermejo MS, Gavrilov D, Gerace R, Giordano G, Irazabal YG, Greed LC, Grier R, Grycki E, Gu X, Gulamali-Majid F, Hagar AF, Han L, Hannon WH, Haslip C, Hassan FA, He M, Hietala A, Himstedt L, Hoffman GL, Hoffman W, Hoggatt P, Hopkins PV, Hougaard DM, Hughes K, Hunt PR, Hwu WL, Hynes J, Ibarra… See abstract for full author list ➔ McHugh D, et al. Genet Med. 2011 Mar;13(3):230-54. doi: 10.1097/GIM.0b013e31820d5e67. Genet Med. 2011. PMID: 21325949 Free article.
Including ELSI research questions in newborn screening pilot studies.
Goldenberg AJ, Lloyd-Puryear M, Brosco JP, Therrell B, Bush L, Berry S, Brower A, Bonhomme N, Bowdish B, Chrysler D, Clarke A, Crawford T, Goldman E, Hiner S, Howell RR, Orren D, Wilfond BS, Watson M; Bioethics and Legal Workgroup of the Newborn Screening Translational Research Network. Goldenberg AJ, et al. Genet Med. 2019 Mar;21(3):525-533. doi: 10.1038/s41436-018-0101-x. Epub 2018 Aug 13. Genet Med. 2019. PMID: 30100612 Free article.
A Roadmap to Newborn Screening for Duchenne Muscular Dystrophy.
Al-Zaidy SA, Lloyd-Puryear M, Kennedy A, Lopez V, Mendell JR. Al-Zaidy SA, et al. Int J Neonatal Screen. 2017 Jun;3(2):8. doi: 10.3390/ijns3020008. Epub 2017 Apr 7. Int J Neonatal Screen. 2017. PMID: 31588416 Free PMC article.
Duchenne Muscular Dystrophy Newborn Screening, a Case Study for Examining Ethical and Legal Issues for Pilots for Emerging Disorders: Considerations and Recommendations.
Lloyd-Puryear MA, Crawford TO, Brower A, Stephenson K, Trotter T, Goldman E, Goldenberg A, Howell RR, Kennedy A, Watson M. Lloyd-Puryear MA, et al. Int J Neonatal Screen. 2018 Jan 25;4(1):6. doi: 10.3390/ijns4010006. eCollection 2018 Mar. Int J Neonatal Screen. 2018. PMID: 33072932 Free PMC article. Review.
Newborn screening for neurodevelopmental diseases: Are we there yet?
Chung WK, Berg JS, Botkin JR, Brenner SE, Brosco JP, Brothers KB, Currier RJ, Gaviglio A, Kowtoniuk WE, Olson C, Lloyd-Puryear M, Saarinen A, Sahin M, Shen Y, Sherr EH, Watson MS, Hu Z. Chung WK, et al. Among authors: lloyd puryear m. Am J Med Genet C Semin Med Genet. 2022 Jun;190(2):222-230. doi: 10.1002/ajmg.c.31988. Epub 2022 Jul 15. Am J Med Genet C Semin Med Genet. 2022. PMID: 35838066 Free PMC article.
76 results