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Quality of life utility values for hereditary haemochromatosis in Australia.

de Graaff B, Neil A, Sanderson K, Yee KC, Palmer AJ.

Health Qual Life Outcomes. 2016 Feb 29;14:31. doi: 10.1186/s12955-016-0431-9.


Association of PNPLA3 rs738409 and TM6SF2 rs58542926 with health services utilization in a population-based study.

Köpp J, Fleßa S, Lieb W, Markus MR, Teumer A, Homuth G, Wallaschofski H, Marschall P, Völzke H, Baumeister SE.

BMC Health Serv Res. 2016 Feb 3;16:41. doi: 10.1186/s12913-016-1289-6.


Evaluating Harms in the Assessment of Net Benefit: A Framework for Newborn Screening Condition Review.

Goldenberg AJ, Comeau AM, Grosse SD, Tanksley S, Prosser LA, Ojodu J, Botkin JR, Kemper AR, Green NS.

Matern Child Health J. 2016 Mar;20(3):693-700. doi: 10.1007/s10995-015-1869-9.


Prevalence, incidence, and age at diagnosis in Marfan Syndrome.

Groth KA, Hove H, Kyhl K, Folkestad L, Gaustadnes M, Vejlstrup N, Stochholm K, Østergaard JR, Andersen NH, Gravholt CH.

Orphanet J Rare Dis. 2015 Dec 2;10:153. doi: 10.1186/s13023-015-0369-8.


Review of Current International Decision-Making Processes for Newborn Screening: Lessons for Australia.

Metternick-Jones SC, Lister KJ, Dawkins HJ, White CA, Weeramanthri TS.

Front Public Health. 2015 Sep 10;3:214. doi: 10.3389/fpubh.2015.00214. eCollection 2015. Review.


EMQN best practice guidelines for the molecular genetic diagnosis of hereditary hemochromatosis (HH).

Porto G, Brissot P, Swinkels DW, Zoller H, Kamarainen O, Patton S, Alonso I, Morris M, Keeney S.

Eur J Hum Genet. 2016 Apr;24(4):479-95. doi: 10.1038/ejhg.2015.128. Epub 2015 Jul 8.


'Someday it will be the norm': physician perspectives on the utility of genome sequencing for patient care in the MedSeq Project.

Vassy JL, Christensen KD, Slashinski MJ, Lautenbach DM, Raghavan S, Robinson JO, Blumenthal-Barby J, Feuerman LZ, Lehmann LS, Murray MF, Green RC, McGuire AL.

Per Med. 2015;12(1):23-32.


A one-page summary report of genome sequencing for the healthy adult.

Vassy JL, McLaughlin HM, MacRae CA, Seidman CE, Lautenbach D, Krier JB, Lane WJ, Kohane IS, Murray MF, McGuire AL, Rehm HL, Green RC.

Public Health Genomics. 2015;18(2):123-9. doi: 10.1159/000370102. Epub 2015 Jan 21. Erratum in: Public Health Genomics. 2015 Apr;18(3):191. McLaughlin, Heather L [corrected to McLaughlin, Heather M].


Valuations of genetic test information for treatable conditions: the case of colorectal cancer screening.

Kilambi V, Johnson FR, González JM, Mohamed AF.

Value Health. 2014 Dec;17(8):838-45. doi: 10.1016/j.jval.2014.09.001. Epub 2014 Nov 6.


Emerging issues in public health genomics.

Roberts JS, Dolinoy DC, Tarini BA.

Annu Rev Genomics Hum Genet. 2014;15:461-80. doi: 10.1146/annurev-genom-090413-025514. Review.


Funding decisions for newborn screening: a comparative review of 22 decision processes in Europe.

Fischer KE, Rogowski WH.

Int J Environ Res Public Health. 2014 May 19;11(5):5403-30. doi: 10.3390/ijerph110505403. Review.


Issues surrounding the health economic evaluation of genomic technologies.

Buchanan J, Wordsworth S, Schuh A.

Pharmacogenomics. 2013 Nov;14(15):1833-47. doi: 10.2217/pgs.13.183. Review.


Criteria for fairly allocating scarce health-care resources to genetic tests: which matter most?

Rogowski WH, Grosse SD, Schmidtke J, Marckmann G.

Eur J Hum Genet. 2014 Jan;22(1):25-31. doi: 10.1038/ejhg.2013.172. Epub 2013 Aug 7.


Recommendations for returning genomic incidental findings? We need to talk!

Burke W, Antommaria AH, Bennett R, Botkin J, Clayton EW, Henderson GE, Holm IA, Jarvik GP, Khoury MJ, Knoppers BM, Press NA, Ross LF, Rothstein MA, Saal H, Uhlmann WR, Wilfond B, Wolf SM, Zimmern R.

Genet Med. 2013 Nov;15(11):854-9. doi: 10.1038/gim.2013.113. Epub 2013 Aug 1. Review.


A framework to start the debate on neonatal screening policies in the EU: an Expert Opinion Document.

Cornel MC, Rigter T, Weinreich SS, Burgard P, Hoffmann GF, Lindner M, Gerard Loeber J, Rupp K, Taruscio D, Vittozzi L.

Eur J Hum Genet. 2014 Jan;22(1):12-7. doi: 10.1038/ejhg.2013.90. Epub 2013 May 8.


Genetics specialists' perspectives on disclosure of genomic incidental findings in the clinical setting.

Downing NR, Williams JK, Daack-Hirsch S, Driessnack M, Simon CM.

Patient Educ Couns. 2013 Jan;90(1):133-8. doi: 10.1016/j.pec.2012.09.010. Epub 2012 Oct 12.


Cell-free fetal DNA testing for fetal aneuploidy and beyond: clinical integration challenges in the US context.

Allyse M, Sayres LC, King JS, Norton ME, Cho MK.

Hum Reprod. 2012 Nov;27(11):3123-31. doi: 10.1093/humrep/des286. Epub 2012 Aug 3.


Points to consider in assessing and appraising predictive genetic tests.

Rogowski WH, Grosse SD, John J, Kääriäinen H, Kent A, Kristofferson U, Schmidtke J.

J Community Genet. 2010 Dec;1(4):185-94. doi: 10.1007/s12687-010-0028-7. Epub 2010 Oct 16.


Dangerous and expensive screening and treatment for rare childhood diseases: the case of Krabbe disease.

Lantos JD.

Dev Disabil Res Rev. 2011;17(1):15-8. doi: 10.1002/ddrr.133. Review.

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