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141 results

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Page 1
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.
Regulatory elements in SEM1-DLX5-DLX6 (7q21.3) locus contribute to genetic control of coronal nonsyndromic craniosynostosis and bone density-related traits.
Nicoletti P, Zafer S, Matok L, Irron I, Patrick M, Haklai R, Evangelista JE, Marino GB, Ma'ayan A, Sewda A, Holmes G, Britton SR, Lee WJ, Wu M, Ru Y, Arnaud E, Botto L, Brody LC, Byren JC, Caggana M, Carmichael SL, Cilliers D, Conway K, Crawford K, Cuellar A, Di Rocco F, Engel M, Fearon J, Feldkamp ML, Finnell R, Fisher S, Freudlsperger C, Garcia-Fructuoso G, Hagge R, Heuzé Y, Harshbarger RJ, Hobbs C, Howley M, Jenkins MM, Johnson D, Justice CM, Kane A, Kay D, Gosain AK, Langlois P, Legal-Mallet L, Lin AE, Mills JL, Morton JEV, Noons P, Olshan A, Persing J, Phipps JM, Redett R, Reefhuis J, Rizk E, Samson TD, Shaw GM, Sicko R, Smith N, Staffenberg D, Stoler J, Sweeney E, Taub PJ, Timberlake AT, Topczewska J, Wall SA, Wilson AF, Wilson LC, Boyadjiev SA, Wilkie AOM, Richtsmeier JT, Jabs EW, Romitti PA, Karasik D, Birnbaum RY, Peter I. Nicoletti P, et al. Among authors: caggana m. Genet Med Open. 2024;2:101851. doi: 10.1016/j.gimo.2024.101851. Epub 2024 May 17. Genet Med Open. 2024. PMID: 39345948 Free PMC article.
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, H… See abstract for full author list ➔ McHugh D, et al. Among authors: caggana m. Genet Med. 2011 Mar;13(3):230-54. doi: 10.1097/GIM.0b013e31820d5e67. Genet Med. 2011. PMID: 21325949 Free article.
Krabbe disease: clinical, biochemical and molecular information on six new patients and successful retrospective diagnosis using stored newborn screening cards.
Puckett RL, Orsini JJ, Pastores GM, Wang RY, Chang R, Saavedra-Matiz CA, Torres PA, Zeng B, Caggana M, Lorey F, Abdenur JE. Puckett RL, et al. Among authors: caggana m. Mol Genet Metab. 2012 Jan;105(1):126-31. doi: 10.1016/j.ymgme.2011.10.010. Epub 2011 Oct 25. Mol Genet Metab. 2012. PMID: 22115770
Cost-effective and scalable DNA extraction method from dried blood spots.
Saavedra-Matiz CA, Isabelle JT, Biski CK, Duva SJ, Sweeney ML, Parker AL, Young AJ, Diantonio LL, Krein LM, Nichols MJ, Caggana M. Saavedra-Matiz CA, et al. Among authors: caggana m. Clin Chem. 2013 Jul;59(7):1045-51. doi: 10.1373/clinchem.2012.198945. Epub 2013 Mar 18. Clin Chem. 2013. PMID: 23509109
Newborn screening: from Guthrie to whole genome sequencing.
Caggana M, Jones EA, Shahied SI, Tanksley S, Hermerath CA, Lubin IM. Caggana M, et al. Public Health Rep. 2013 Sep-Oct;128 Suppl 2(Suppl 2):14-9. doi: 10.1177/00333549131280S204. Public Health Rep. 2013. PMID: 23997299 Free PMC article. No abstract available.
Newborn screening for SCID in New York State: experience from the first two years.
Vogel BH, Bonagura V, Weinberg GA, Ballow M, Isabelle J, DiAntonio L, Parker A, Young A, Cunningham-Rundles C, Fong CT, Celestin J, Lehman H, Rubinstein A, Siegel S, Weiner L, Saavedra-Matiz C, Kay DM, Caggana M. Vogel BH, et al. Among authors: caggana m. J Clin Immunol. 2014 Apr;34(3):289-303. doi: 10.1007/s10875-014-0006-7. Epub 2014 Mar 1. J Clin Immunol. 2014. PMID: 24578017 Free PMC article.
141 results