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Items: 18


Medical genetics and genomic medicine in the United States. Part 2: Reproductive genetics, newborn screening, genetic counseling, training, and registries.

Regier DS, Ferreira CR, Hart S, Hadley DW, Muenke M.

Mol Genet Genomic Med. 2017 Nov;5(6):621-630. doi: 10.1002/mgg3.343.


Retinopathy of prematurity: A comprehensive risk analysis for prevention and prediction of disease.

Owen LA, Morrison MA, Hoffman RO, Yoder BA, DeAngelis MM.

PLoS One. 2017 Feb 14;12(2):e0171467. doi: 10.1371/journal.pone.0171467. eCollection 2017.


The first occurrence of a CTX-M ESBL-producing Escherichia coli outbreak mediated by mother to neonate transmission in an Irish neonatal intensive care unit.

O'Connor C, Philip RK, Kelleher J, Powell J, O'Gorman A, Slevin B, Woodford N, Turton JF, McGrath E, Finnegan C, Power L, O'Connell NH, Dunne CP.

BMC Infect Dis. 2017 Jan 5;17(1):16. doi: 10.1186/s12879-016-2142-6.


Expert Diagnosis of Plus Disease in Retinopathy of Prematurity From Computer-Based Image Analysis.

Campbell JP, Ataer-Cansizoglu E, Bolon-Canedo V, Bozkurt A, Erdogmus D, Kalpathy-Cramer J, Patel SN, Reynolds JD, Horowitz J, Hutcheson K, Shapiro M, Repka MX, Ferrone P, Drenser K, Martinez-Castellanos MA, Ostmo S, Jonas K, Chan RV, Chiang MF; Imaging and Informatics in ROP (i-ROP) Research Consortium.

JAMA Ophthalmol. 2016 Jun 1;134(6):651-7. doi: 10.1001/jamaophthalmol.2016.0611.


Shortening Turnaround Times for Newborn HIV Testing in Rural Tanzania: A Report from the Field.

Manumbu S, Smart LR, Mwale A, Mate KS, Downs JA.

PLoS Med. 2015 Nov 3;12(11):e1001897. doi: 10.1371/journal.pmed.1001897. eCollection 2015 Nov. No abstract available.


Newborn screening and the era of medical genomics.

Francescatto L, Katsanis N.

Semin Perinatol. 2015 Dec;39(8):617-22. doi: 10.1053/j.semperi.2015.09.010. Epub 2015 Oct 21. Review.


Assessment of Autism Symptoms During the Neonatal Period: Is There Early Evidence of Autism Risk?

Pineda R, Melchior K, Oberle S, Inder T, Rogers C.

Am J Occup Ther. 2015 Jul-Aug;69(4):6904220010p1-11. doi: 10.5014/ajot.2015.015925.


The National Birth Defects Prevention Study: A review of the methods.

Reefhuis J, Gilboa SM, Anderka M, Browne ML, Feldkamp ML, Hobbs CA, Jenkins MM, Langlois PH, Newsome KB, Olshan AF, Romitti PA, Shapira SK, Shaw GM, Tinker SC, Honein MA; National Birth Defects Prevention Study.

Birth Defects Res A Clin Mol Teratol. 2015 Aug;103(8):656-69. doi: 10.1002/bdra.23384. Epub 2015 Jun 2. Review.


Rationale and objectives for ECG screening in infancy.

Saul JP, Schwartz PJ, Ackerman MJ, Triedman JK.

Heart Rhythm. 2014 Dec;11(12):2316-21. doi: 10.1016/j.hrthm.2014.09.047. Epub 2014 Sep 18. Review.


Emerging issues in public health genomics.

Roberts JS, Dolinoy D, Tarini B.

Annu Rev Genomics Hum Genet. 2014;15:461-480. doi: 10.1146/annurev-genom-090413-025514. Review.


Validity of a telemedicine system for the evaluation of acute-phase retinopathy of prematurity.

Quinn GE, Ying GS, Daniel E, Hildebrand PL, Ells A, Baumritter A, Kemper AR, Schron EB, Wade K; e-ROP Cooperative Group.

JAMA Ophthalmol. 2014 Oct;132(10):1178-84. doi: 10.1001/jamaophthalmol.2014.1604.


European Society for Paediatric Endocrinology consensus guidelines on screening, diagnosis, and management of congenital hypothyroidism.

Léger J, Olivieri A, Donaldson M, Torresani T, Krude H, van Vliet G, Polak M, Butler G; ESPE-PES-SLEP-JSPE-APEG-APPES-ISPAE; Congenital Hypothyroidism Consensus Conference Group.

J Clin Endocrinol Metab. 2014 Feb;99(2):363-84. doi: 10.1210/jc.2013-1891. Epub 2014 Jan 21.


Appropriateness of newborn screening for α1-antitrypsin deficiency.

Teckman J, Pardee E, Howell RR, Mannino D, Sharp RR, Brantly M, Wanner A, Lamson J; Alpha-1 Foundation Workshop Attendees.

J Pediatr Gastroenterol Nutr. 2014 Feb;58(2):199-203. doi: 10.1097/MPG.0000000000000196.


Mary Crosse project: systematic reviews and grading the value of neonatal tests in predicting long term outcomes.

Malin GL, Morris RK, Khan KS.

BMC Pregnancy Childbirth. 2009 Oct 29;9:49. doi: 10.1186/1471-2393-9-49.


Wide-field digital imaging based telemedicine for screening for acute retinopathy of prematurity (ROP). Six-year results of a multicentre field study.

Lorenz B, Spasovska K, Elflein H, Schneider N.

Graefes Arch Clin Exp Ophthalmol. 2009 Sep;247(9):1251-62. doi: 10.1007/s00417-009-1077-7. Epub 2009 May 22.


Guidelines for diagnosis of cystic fibrosis in newborns through older adults: Cystic Fibrosis Foundation consensus report.

Farrell PM, Rosenstein BJ, White TB, Accurso FJ, Castellani C, Cutting GR, Durie PR, Legrys VA, Massie J, Parad RB, Rock MJ, Campbell PW 3rd; Cystic Fibrosis Foundation.

J Pediatr. 2008 Aug;153(2):S4-S14. doi: 10.1016/j.jpeds.2008.05.005.


Silently lost in a sea of infections.

Devakumar D.

London J Prim Care (Abingdon). 2008;1(2):78-80.

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