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Research Output 1977 2019

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Comment/debate
2018
4 Citations (Scopus)

Pragmatic tools for sharing genomic research results with the relatives of living and deceased research participants

Wolf, S. M., Scholtes, E., Koenig, B. A., Petersen, G. M., Berry, S. A., Beskow, L. M., Daly, M. B., Fernandez, C. V., Green, R. C., LeRoy, B. S., Lindor, N. M., O’Rourke, P., Breitkopf, C. R., Rothstein, M. A., Ness, B. V. & Wilfond, B. S., Jan 1 2018, In : Journal of Law, Medicine and Ethics. 46, 1, p. 87-109 23 p.

Research output: Contribution to journalComment/debate

Open Access
Research
Consensus
Consent Forms
Organized Financing
Information Storage and Retrieval
2016
5 Citations (Scopus)

A framework for assessing outcomes from newborn screening: on the road to measuring its promise

the Follow-up and Treatment Sub-committee of the Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC), Aug 1 2016, In : Molecular Genetics and Metabolism. 118, 4, p. 221-229 9 p.

Research output: Contribution to journalComment/debate

Screening
Newborn Infant
Health
Outcome Assessment (Health Care)
Public health
2015

Erratum: Blood ammonia and glutamine as predictors of hyperammonemic crises in patients with urea cycle disorder (Genetics in Medicine (2014))

Lee, B., Diaz, G. A., Rhead, W., Lichter-Konecki, U., Feigenbaum, A., Berry, S. A., Mons, C. L., Bartley, J. A., Longo, N., Nagamani, S. C., Berquist, W., Gallagher, R., Bartholomew, D., Harding, C. O., Korson, M. S., McCandless, S. E., Smith, W., Cederbaum, S., Wong, D., Lawrence Merritt, J. & 10 others, Schulze, A., Vockley, J., Kronn, D., Zori, R., Summar, M., Milikien, D. A., Marino, M., Coakley, D. F., Mokhtarani, M. & Scharschmidt, B. F., May 8 2015, In : Genetics in Medicine. 17, 5, 1 p.

Research output: Contribution to journalComment/debate

2014
1 Citation (Scopus)

Erratum: Phenylalanine hydroxylase deficiency: Diagnosis and management guideline (Genetics in Medicine (2014) 16:2 (188-200) DOI:10.1038/gim.2013.157)

Vockley, J., Andersson, H. C., Antshel, K. M., Braverman, N. E., Burton, B. K., Frazier, D. M., Mitchell, J., Smith, W. E., Thompson, B. H. & Berry, S. A., Jan 1 2014, In : Genetics in Medicine. 16, 4, 1 p.

Research output: Contribution to journalComment/debate

Phenylketonurias
Medicine
Guidelines
1997
Ornithine Carbamoyltransferase Deficiency Disease
Medical Genetics
Pedigree
Mutation