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Research Output


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
5 Scopus citations

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

5 Scopus citations

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


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., Apr 2014, In : Genetics in Medicine. 16, 4, 1 p.

Research output: Contribution to journalComment/debate

2 Scopus citations