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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, Ibarra… See abstract for full author list ➔ McHugh D, et al. Among authors: torres r, torres j. Genet Med. 2011 Mar;13(3):230-54. doi: 10.1097/GIM.0b013e31820d5e67. Genet Med. 2011. PMID: 21325949 Free article.
Enhanced interpretation of newborn screening results without analyte cutoff values.
Marquardt G, Currier R, McHugh DM, Gavrilov D, Magera MJ, Matern D, Oglesbee D, Raymond K, Rinaldo P, Smith EH, Tortorelli S, Turgeon CT, Lorey F, Wilcken B, Wiley V, Greed LC, Lewis B, Boemer F, Schoos R, Marie S, Vincent MF, Sica YC, Domingos MT, Al-Thihli K, Sinclair G, Al-Dirbashi OY, Chakraborty P, Dymerski M, Porter C, Manning A, Seashore MR, Quesada J, Reuben A, Chrastina P, Hornik P, Atef Mandour I, Atty Sharaf SA, Bodamer O, Dy B, Torres J, Zori R, Cheillan D, Vianey-Saban C, Ludvigson D, Stembridge A, Bonham J, Downing M, Dotsikas Y, Loukas YL, Papakonstantinou V, Zacharioudakis GS, Baráth Á, Karg E, Franzson L, Jonsson JJ, Breen NN, Lesko BG, Berberich SL, Turner K, Ruoppolo M, Scolamiero E, Antonozzi I, Carducci C, Caruso U, Cassanello M, la Marca G, Pasquini E, Di Gangi IM, Giordano G, Camilot M, Teofoli F, Manos SM, Peterson CK, Mayfield Gibson SK, Sevier DW, Lee SY, Park HD, Khneisser I, Browning P, Gulamali-Majid F, Watson MS, Eaton RB, Sahai I, Ruiz C, Torres R, Seeterlin MA, Stanley EL, Hietala A, McCann M, Campbell C, Hopkins PV, de Sain-Van der Velden MG, Elvers B, Morrissey MA, Sunny S, Knoll D, Webster D, Frazier DM, McClure JD, Sesser DE, Willi… See abstract for full author list ➔ Marquardt G, et al. Among authors: torres r, torres j. Genet Med. 2012 Jul;14(7):648-55. doi: 10.1038/gim.2012.2. Epub 2012 Feb 16. Genet Med. 2012. PMID: 22766634 Free article.
Pharmacogenomic insights in psychiatric care: uncovering novel actionability, allele-specific CYP2D6 copy number variation, and phenoconversion in 15,000 patients.
Patel JN, Morris SA, Torres R, Rhead B, Vlangos C, Mueller DJ, Brown LC, Lefkofsky H, Ali M, De La Vega FM, Barnes KC, Zoghbi A, Stanton JD, Badgeley MA. Patel JN, et al. Among authors: torres r. Mol Psychiatry. 2024 May 23. doi: 10.1038/s41380-024-02588-4. Online ahead of print. Mol Psychiatry. 2024. PMID: 38783055
Combination low-intensity chemotherapy plus inotuzumab ozogamicin, blinatumomab and rituximab for pediatric patients with relapsed/refractory B-cell acute lymphoblastic leukemia.
Gibson A, Nunez C, Robusto L, Kammerer B, Garcia M, Roth M, Sheth R, Tewari P, Hittle A, Toepfer L, Torres R, Short NJ, Jabbour E, Jain N, Cuglievan B, McCall D. Gibson A, et al. Among authors: torres r. Haematologica. 2024 May 23. doi: 10.3324/haematol.2023.284950. Online ahead of print. Haematologica. 2024. PMID: 38779719 Free article.
Directed conservation of the world's reef sharks and rays.
Goetze JS, Heithaus MR, MacNeil MA, Harvey E, Simpfendorfer CA, Heupel MR, Meekan M, Wilson S, Bond ME, Speed CW, Currey-Randall LM, Fisher R, Sherman CS, Kiszka JJ, Rees MJ, Udyawer V, Flowers KI, Clementi GM, Asher J, Beaufort O, Bernard ATF, Berumen ML, Bierwagen SL, Boslogo T, Brooks EJ, Brown JJ, Buddo D, Cáceres C, Casareto S, Charloo V, Cinner JE, Clua EEG, Cochran JEM, Cook N, D'Alberto BM, de Graaf M, Dornhege-Lazaroff MC, Fanovich L, Farabaugh NF, Fernando D, Ferreira CEL, Fields CYA, Flam AL, Floros C, Fourqurean V, Barcia LG, Garla R, Gastrich K, George L, Graham R, Hagan V, Hardenstine RS, Heck SM, Heithaus P, Henderson AC, Hertler H, Hueter RE, Johnson M, Jupiter SD, Kaimuddin M, Kasana D, Kelley M, Kessel ST, Kiilu B, Kyne F, Langlois T, Lawe J, Lédée EJI, Lindfield S, Maggs JQ, Manjaji-Matsumoto BM, Marshall A, Matich P, McCombs E, McLean D, Meggs L, Moore S, Mukherji S, Murray R, Newman SJ, O'Shea OR, Osuka KE, Papastamatiou YP, Perera N, Peterson BJ, Pina-Amargós F, Ponzo A, Prasetyo A, Quamar LMS, Quinlan JR, Razafindrakoto CF, Rolim FA, Ruiz-Abierno A, Ruiz H, Samoilys MA, Sala E, Sample WR, Schärer-Umpierre M, Schoen SN, Schlaff AM, Smith ANH, Sparks L, Stoffe… See abstract for full author list ➔ Goetze JS, et al. Among authors: torres r. Nat Ecol Evol. 2024 May 20. doi: 10.1038/s41559-024-02386-9. Online ahead of print. Nat Ecol Evol. 2024. PMID: 38769434
1,937 results