Savage S - Search Results

1

Tyrosinase gene mutations in oculocutaneous albinism 1 (OCA1): definition of the phenotype.

King RA, Pietsch J, Fryer JP, Savage S, Brott MJ, Russell-Eggitt I, Summers CG, Oetting WS. King RA, et al. Among authors: savage s. Hum Genet. 2003 Nov;113(6):502-13. doi: 10.1007/s00439-003-0998-1. Epub 2003 Sep 10. Hum Genet. 2003. PMID: 13680365

2

MC1R mutations modify the classic phenotype of oculocutaneous albinism type 2 (OCA2).

King RA, Willaert RK, Schmidt RM, Pietsch J, Savage S, Brott MJ, Fryer JP, Summers CG, Oetting WS. King RA, et al. Among authors: savage s. Am J Hum Genet. 2003 Sep;73(3):638-45. doi: 10.1086/377569. Epub 2003 Jul 22. Am J Hum Genet. 2003. PMID: 12876664 Free PMC article.

3

The R402Q tyrosinase variant does not cause autosomal recessive ocular albinism.

Oetting WS, Pietsch J, Brott MJ, Savage S, Fryer JP, Summers CG, King RA. Oetting WS, et al. Among authors: savage s. Am J Med Genet A. 2009 Mar;149A(3):466-9. doi: 10.1002/ajmg.a.32654. Am J Med Genet A. 2009. PMID: 19208379

4

Return of genomic results to research participants: the floor, the ceiling, and the choices in between.

Jarvik GP, Amendola LM, Berg JS, Brothers K, Clayton EW, Chung W, Evans BJ, Evans JP, Fullerton SM, Gallego CJ, Garrison NA, Gray SW, Holm IA, Kullo IJ, Lehmann LS, McCarty C, Prows CA, Rehm HL, Sharp RR, Salama J, Sanderson S, Van Driest SL, Williams MS, Wolf SM, Wolf WA; eMERGE Act-ROR Committee and CERC Committee; CSER Act-ROR Working Group; Burke W. Jarvik GP, et al. Am J Hum Genet. 2014 Jun 5;94(6):818-26. doi: 10.1016/j.ajhg.2014.04.009. Epub 2014 May 8. Am J Hum Genet. 2014. PMID: 24814192 Free PMC article.

5

Guidelines for return of research results from pediatric genomic studies: deliberations of the Boston Children's Hospital Gene Partnership Informed Cohort Oversight Board.

Holm IA, Savage SK, Green RC, Juengst E, McGuire A, Kornetsky S, Brewster SJ, Joffe S, Taylor P. Holm IA, et al. Among authors: savage sk. Genet Med. 2014 Jul;16(7):547-52. doi: 10.1038/gim.2013.190. Epub 2014 Jan 9. Genet Med. 2014. PMID: 24406460 Free article.

6

Disclosing pathogenic genetic variants to research participants: quantifying an emerging ethical responsibility.

Cassa CA, Savage SK, Taylor PL, Green RC, McGuire AL, Mandl KD. Cassa CA, et al. Genome Res. 2012 Mar;22(3):421-8. doi: 10.1101/gr.127845.111. Epub 2012 Jan 6. Genome Res. 2012. PMID: 22147367 Free PMC article.

7

The beliefs, motivations, and expectations of parents who have enrolled their children in a genetic biorepository.

Harris ED, Ziniel SI, Amatruda JG, Clinton CM, Savage SK, Taylor PL, Huntington NL, Green RC, Holm IA. Harris ED, et al. Genet Med. 2012 Mar;14(3):330-7. doi: 10.1038/gim.2011.25. Epub 2012 Jan 26. Genet Med. 2012. PMID: 22241099 Free PMC article.

8

The development of a preference-setting model for the return of individual genomic research results.

Bacon PL, Harris ED, Ziniel SI, Savage SK, Weitzman ER, Green RC, Huntington NL, Holm IA. Bacon PL, et al. J Empir Res Hum Res Ethics. 2015 Apr;10(2):107-20. doi: 10.1177/1556264615572092. Epub 2015 Feb 20. J Empir Res Hum Res Ethics. 2015. PMID: 25742675

9

Participant Satisfaction With a Preference-Setting Tool for the Return of Individual Research Results in Pediatric Genomic Research.

Holm IA, Iles BR, Ziniel SI, Bacon PL, Savage SK, Christensen KD, Weitzman ER, Green RC, Huntington NL. Holm IA, et al. J Empir Res Hum Res Ethics. 2015 Oct;10(4):414-26. doi: 10.1177/1556264615599620. J Empir Res Hum Res Ethics. 2015. PMID: 26376753 Free PMC article. Clinical Trial.

10

Parents' preferences for return of results in pediatric genomic research.

Ziniel SI, Savage SK, Huntington N, Amatruda J, Green RC, Weitzman ER, Taylor P, Holm IA. Ziniel SI, et al. Among authors: savage sk. Public Health Genomics. 2014;17(2):105-14. doi: 10.1159/000358539. Epub 2014 Mar 13. Public Health Genomics. 2014. PMID: 24642506 Free PMC article.

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