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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,… See abstract for full author list ➔ McHugh D, et al. Among authors: oglesbee d, d apolito o. Genet Med. 2011 Mar;13(3):230-54. doi: 10.1097/GIM.0b013e31820d5e67. Genet Med. 2011. PMID: 21325949 Free article.
Design and analytical validation of clinical DNA sequencing assays.
Pont-Kingdon G, Gedge F, Wooderchak-Donahue W, Schrijver I, Weck KE, Kant JA, Oglesbee D, Bayrak-Toydemir P, Lyon E; Biochemical and Molecular Genetic Resource Committee of the College of American Pathologists. Pont-Kingdon G, et al. Among authors: oglesbee d. Arch Pathol Lab Med. 2012 Jan;136(1):41-6. doi: 10.5858/arpa.2010-0623-OA. Arch Pathol Lab Med. 2012. PMID: 22208486 Free article.
Precision newborn screening for lysosomal disorders.
Minter Baerg MM, Stoway SD, Hart J, Mott L, Peck DS, Nett SL, Eckerman JS, Lacey JM, Turgeon CT, Gavrilov D, Oglesbee D, Raymond K, Tortorelli S, Matern D, Mørkrid L, Rinaldo P. Minter Baerg MM, et al. Among authors: oglesbee d. Genet Med. 2018 Aug;20(8):847-854. doi: 10.1038/gim.2017.194. Epub 2017 Nov 9. Genet Med. 2018. PMID: 29120458 Free article.
Laboratory screening and diagnosis of open neural tube defects, 2019 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG).
Palomaki GE, Bupp C, Gregg AR, Norton ME, Oglesbee D, Best RG; ACMG Biochemical Genetics Subcommittee of the Laboratory Quality Assurance Committee. Palomaki GE, et al. Among authors: oglesbee d. Genet Med. 2020 Mar;22(3):462-474. doi: 10.1038/s41436-019-0681-0. Epub 2019 Nov 8. Genet Med. 2020. PMID: 31700163 Free article.
Risk categorization for oversight of laboratory-developed tests for inherited conditions: an updated position statement of the American College of Medical Genetics and Genomics (ACMG).
South ST, McClure M, Astbury C, Bashford MT, Benkendorf J, Esplin ED, Monaghan KG, Oglesbee D, Sutton VR, Watson MS; ACMG Laboratory Quality Assurance and the Professional Practice and Guidelines Committees. South ST, et al. Among authors: oglesbee d. Genet Med. 2020 Jun;22(6):983-985. doi: 10.1038/s41436-020-0765-x. Epub 2020 Mar 4. Genet Med. 2020. PMID: 32127695 Free article. No abstract available.
136 results