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Items: 1 to 20 of 110

1.

Refining the structure and content of clinical genomic reports.

Dorschner MO, Amendola LM, Shirts BH, Kiedrowski L, Salama J, Gordon AS, Fullerton SM, Tarczy-Hornoch P, Byers PH, Jarvik GP.

Am J Med Genet C Semin Med Genet. 2014 Mar;166C(1):85-92. doi: 10.1002/ajmg.c.31395. Epub 2014 Mar 10.

2.

A commentary on the promise of whole-exome sequencing in medical genetics.

Kaname T, Yanagi K, Naritomi K.

J Hum Genet. 2014 Mar;59(3):117-8. doi: 10.1038/jhg.2014.7. Epub 2014 Feb 6. No abstract available.

PMID:
24500682
3.

Implementing individualized medicine into the medical practice.

Lazaridis KN, McAllister TM, Babovic-Vuksanovic D, Beck SA, Borad MJ, Bryce AH, Chanan-Khan AA, Ferber MJ, Fonseca R, Johnson KJ, Klee EW, Lindor NM, McCormick JB, McWilliams RR, Parker AS, Riegert-Johnson DL, Rohrer Vitek CR, Schahl KA, Schultz C, Stewart K, Then GC, Wieben ED, Farrugia G.

Am J Med Genet C Semin Med Genet. 2014 Mar;166C(1):15-23. doi: 10.1002/ajmg.c.31387. Epub 2014 Mar 10. Review.

PMID:
24616301
4.

The promise of whole-exome sequencing in medical genetics.

Rabbani B, Tekin M, Mahdieh N.

J Hum Genet. 2014 Jan;59(1):5-15. doi: 10.1038/jhg.2013.114. Epub 2013 Nov 7. Review.

PMID:
24196381
5.

Incidental variants are critical for genomics.

Biesecker LG.

Am J Hum Genet. 2013 May 2;92(5):648-51. doi: 10.1016/j.ajhg.2013.04.001.

6.

Comparative effectiveness of next generation genomic sequencing for disease diagnosis: design of a randomized controlled trial in patients with colorectal cancer/polyposis syndromes.

Gallego CJ, Bennette CS, Heagerty P, Comstock B, Horike-Pyne M, Hisama F, Amendola LM, Bennett RL, Dorschner MO, Tarczy-Hornoch P, Grady WM, Fullerton SM, Trinidad SB, Regier DA, Nickerson DA, Burke W, Patrick DL, Jarvik GP, Veenstra DL.

Contemp Clin Trials. 2014 Sep;39(1):1-8. doi: 10.1016/j.cct.2014.06.016. Epub 2014 Jul 3.

7.

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.

Green RC, Berg JS, Grody WW, Kalia SS, Korf BR, Martin CL, McGuire AL, Nussbaum RL, O'Daniel JM, Ormond KE, Rehm HL, Watson MS, Williams MS, Biesecker LG; American College of Medical Genetics and Genomics.

Genet Med. 2013 Jul;15(7):565-74. doi: 10.1038/gim.2013.73. Epub 2013 Jun 20. Erratum in: Genet Med. 2017 May;19(5):606.

8.

Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.

Kalia SS, Adelman K, Bale SJ, Chung WK, Eng C, Evans JP, Herman GE, Hufnagel SB, Klein TE, Korf BR, McKelvey KD, Ormond KE, Richards CS, Vlangos CN, Watson M, Martin CL, Miller DT.

Genet Med. 2017 Feb;19(2):249-255. doi: 10.1038/gim.2016.190. Epub 2016 Nov 17. Erratum in: Genet Med. 2017 Apr;19(4):484.

PMID:
27854360
9.

Leading the way to genomic medicine.

Manolio TA, Green ED.

Am J Med Genet C Semin Med Genet. 2014 Mar;166C(1):1-7. doi: 10.1002/ajmg.c.31384. Epub 2014 Mar 11.

PMID:
24619573
10.

Molecular findings among patients referred for clinical whole-exome sequencing.

Yang Y, Muzny DM, Xia F, Niu Z, Person R, Ding Y, Ward P, Braxton A, Wang M, Buhay C, Veeraraghavan N, Hawes A, Chiang T, Leduc M, Beuten J, Zhang J, He W, Scull J, Willis A, Landsverk M, Craigen WJ, Bekheirnia MR, Stray-Pedersen A, Liu P, Wen S, Alcaraz W, Cui H, Walkiewicz M, Reid J, Bainbridge M, Patel A, Boerwinkle E, Beaudet AL, Lupski JR, Plon SE, Gibbs RA, Eng CM.

JAMA. 2014 Nov 12;312(18):1870-9. doi: 10.1001/jama.2014.14601.

11.

Management of Incidental Findings in Clinical Genomic Sequencing.

Krier JB, Green RC.

Curr Protoc Hum Genet. 2015 Oct 6;87:9.23.1-16. doi: 10.1002/0471142905.hg0923s87.

PMID:
26439717
12.

Whole-exome/genome sequencing and genomics.

Grody WW, Thompson BH, Hudgins L.

Pediatrics. 2013 Dec;132(Suppl 3):S211-5. doi: 10.1542/peds.2013-1032E.

PMID:
24298129
13.

Practices and policies of clinical exome sequencing providers: analysis and implications.

Jamal SM, Yu JH, Chong JX, Dent KM, Conta JH, Tabor HK, Bamshad MJ.

Am J Med Genet A. 2013 May;161A(5):935-50. doi: 10.1002/ajmg.a.35942.

14.

Reporting results from whole-genome and whole-exome sequencing in clinical practice: a proposal for Canada?

Zawati MH, Parry D, Thorogood A, Nguyen MT, Boycott KM, Rosenblatt D, Knoppers BM.

J Med Genet. 2014 Jan;51(1):68-70. doi: 10.1136/jmedgenet-2013-101934. Epub 2013 Sep 27.

PMID:
24078715
15.

Informed consent for exome sequencing research in families with genetic disease: the emerging issue of incidental findings.

Bergner AL, Bollinger J, Raraigh KS, Tichnell C, Murray B, Blout CL, Telegrafi AB, James CA.

Am J Med Genet A. 2014 Nov;164A(11):2745-52. doi: 10.1002/ajmg.a.36706. Epub 2014 Sep 22.

16.

Clinical exome sequencing reports: current informatics practice and future opportunities.

Swaminathan R, Huang Y, Astbury C, Fitzgerald-Butt S, Miller K, Cole J, Bartlett C, Lin S.

J Am Med Inform Assoc. 2017 Nov 1;24(6):1184-1191. doi: 10.1093/jamia/ocx048. Review.

PMID:
28535206
17.

College of American Pathologists' laboratory standards for next-generation sequencing clinical tests.

Aziz N, Zhao Q, Bry L, Driscoll DK, Funke B, Gibson JS, Grody WW, Hegde MR, Hoeltge GA, Leonard DG, Merker JD, Nagarajan R, Palicki LA, Robetorye RS, Schrijver I, Weck KE, Voelkerding KV.

Arch Pathol Lab Med. 2015 Apr;139(4):481-93. doi: 10.5858/arpa.2014-0250-CP. Epub 2014 Aug 25.

PMID:
25152313
18.

American College of Medical Genetics and Genomics: standards and guidelines for documenting suspected consanguinity as an incidental finding of genomic testing.

Rehder CW, David KL, Hirsch B, Toriello HV, Wilson CM, Kearney HM.

Genet Med. 2013 Feb;15(2):150-2. doi: 10.1038/gim.2012.169. Epub 2013 Jan 17.

PMID:
23328890
19.

Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine.

Green RC, Goddard KAB, Jarvik GP, Amendola LM, Appelbaum PS, Berg JS, Bernhardt BA, Biesecker LG, Biswas S, Blout CL, Bowling KM, Brothers KB, Burke W, Caga-Anan CF, Chinnaiyan AM, Chung WK, Clayton EW, Cooper GM, East K, Evans JP, Fullerton SM, Garraway LA, Garrett JR, Gray SW, Henderson GE, Hindorff LA, Holm IA, Lewis MH, Hutter CM, Janne PA, Joffe S, Kaufman D, Knoppers BM, Koenig BA, Krantz ID, Manolio TA, McCullough L, McEwen J, McGuire A, Muzny D, Myers RM, Nickerson DA, Ou J, Parsons DW, Petersen GM, Plon SE, Rehm HL, Roberts JS, Robinson D, Salama JS, Scollon S, Sharp RR, Shirts B, Spinner NB, Tabor HK, Tarczy-Hornoch P, Veenstra DL, Wagle N, Weck K, Wilfond BS, Wilhelmsen K, Wolf SM, Wynn J, Yu JH; CSER Consortium.

Am J Hum Genet. 2016 Jun 2;98(6):1051-1066. doi: 10.1016/j.ajhg.2016.04.011. Epub 2016 May 12. Erratum in: Am J Hum Genet. 2016 Jul 7;99(1):246.

20.

Processes and preliminary outputs for identification of actionable genes as incidental findings in genomic sequence data in the Clinical Sequencing Exploratory Research Consortium.

Berg JS, Amendola LM, Eng C, Van Allen E, Gray SW, Wagle N, Rehm HL, DeChene ET, Dulik MC, Hisama FM, Burke W, Spinner NB, Garraway L, Green RC, Plon S, Evans JP, Jarvik GP; Members of the CSER Actionability and Return of Results Working Group.

Genet Med. 2013 Nov;15(11):860-7. doi: 10.1038/gim.2013.133. Epub 2013 Oct 24. Review. Erratum in: Genet Med. 2014 Feb;16(2):203.

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