Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 8

1.

Harmonizing Clinical Sequencing and Interpretation for the eMERGE III Network.

eMERGE Consortium. Electronic address: agibbs@bcm.edu; eMERGE Consortium.

Am J Hum Genet. 2019 Sep 5;105(3):588-605. doi: 10.1016/j.ajhg.2019.07.018. Epub 2019 Aug 22.

PMID:
31447099
2.

ClinGen advancing genomic data-sharing standards as a GA4GH driver project.

Dolman L, Page A, Babb L, Freimuth RR, Arachchi H, Bizon C, Brush M, Fiume M, Haendel M, Hansen DP, Milosavljevic A, Patel RY, Pawliczek P, Yates AD, Rehm HL.

Hum Mutat. 2018 Nov;39(11):1686-1689. doi: 10.1002/humu.23625.

3.

Empowering genomic medicine by establishing critical sequencing result data flows: the eMERGE example.

Aronson S, Babb L, Ames D, Gibbs RA, Venner E, Connelly JJ, Marsolo K, Weng C, Williams MS, Hartzler AL, Liang WH, Ralston JD, Devine EB, Murphy S, Chute CG, Caraballo PJ, Kullo IJ, Freimuth RR, Rasmussen LV, Wehbe FH, Peterson JF, Robinson JR, Wiley K, Overby Taylor C; eMERGE Network EHRI Working Group.

J Am Med Inform Assoc. 2018 Oct 1;25(10):1375-1381. doi: 10.1093/jamia/ocy051.

4.

Principles and Recommendations for Standardizing the Use of the Next-Generation Sequencing Variant File in Clinical Settings.

Lubin IM, Aziz N, Babb LJ, Ballinger D, Bisht H, Church DM, Cordes S, Eilbeck K, Hyland F, Kalman L, Landrum M, Lockhart ER, Maglott D, Marth G, Pfeifer JD, Rehm HL, Roy S, Tezak Z, Truty R, Ullman-Cullere M, Voelkerding KV, Worthey EA, Zaranek AW, Zook JM.

J Mol Diagn. 2017 May;19(3):417-426. doi: 10.1016/j.jmoldx.2016.12.001. Epub 2017 Mar 18.

5.

Information Technology Support for Clinical Genetic Testing within an Academic Medical Center.

Aronson S, Mahanta L, Ros LL, Clark E, Babb L, Oates M, Rehm H, Lebo M.

J Pers Med. 2016 Jan 20;6(1). pii: E4. doi: 10.3390/jpm6010004.

6.

A novel clinician interface to improve clinician access to up-to-date genetic results.

Wilcox AR, Neri PM, Volk LA, Newmark LP, Clark EH, Babb LJ, Varugheese M, Aronson SJ, Rehm HL, Bates DW.

J Am Med Inform Assoc. 2014 Feb;21(e1):e117-21. doi: 10.1136/amiajnl-2013-001965. Epub 2013 Sep 7.

7.

Communicating new knowledge on previously reported genetic variants.

Aronson SJ, Clark EH, Varugheese M, Baxter S, Babb LJ, Rehm HL.

Genet Med. 2012;14(8):713-719. doi: 10.1038/gim.2012.19. Epub 2012 Apr 5.

8.

The GeneInsight Suite: a platform to support laboratory and provider use of DNA-based genetic testing.

Aronson SJ, Clark EH, Babb LJ, Baxter S, Farwell LM, Funke BH, Hernandez AL, Joshi VA, Lyon E, Parthum AR, Russell FJ, Varugheese M, Venman TC, Rehm HL.

Hum Mutat. 2011 May;32(5):532-6. doi: 10.1002/humu.21470. Epub 2011 Mar 22.

Supplemental Content

Loading ...
Support Center