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Items: 1 to 20 of 129

1.

Exploring concordance and discordance for return of incidental findings from clinical sequencing.

Green RC, Berg JS, Berry GT, Biesecker LG, Dimmock DP, Evans JP, Grody WW, Hegde MR, Kalia S, Korf BR, Krantz I, McGuire AL, Miller DT, Murray MF, Nussbaum RL, Plon SE, Rehm HL, Jacob HJ.

Genet Med. 2012 Apr;14(4):405-10. doi: 10.1038/gim.2012.21. Epub 2012 Mar 15.

2.

Taxonomizing, sizing, and overcoming the incidentalome.

Kohane IS, Hsing M, Kong SW.

Genet Med. 2012 Apr;14(4):399-404. doi: 10.1038/gim.2011.68. Epub 2012 Feb 9.

3.

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.

4.
5.

Choices of incidental findings of individuals undergoing genome wide sequencing, a single center's experience.

Bishop CL, Strong KA, Dimmock DP.

Clin Genet. 2017 Jan;91(1):137-140. doi: 10.1111/cge.12829. Epub 2016 Jul 26.

PMID:
27392285
6.

The implications of familial incidental findings from exome sequencing: the NIH Undiagnosed Diseases Program experience.

Lawrence L, Sincan M, Markello T, Adams DR, Gill F, Godfrey R, Golas G, Groden C, Landis D, Nehrebecky M, Park G, Soldatos A, Tifft C, Toro C, Wahl C, Wolfe L, Gahl WA, Boerkoel CF.

Genet Med. 2014 Oct;16(10):741-50. doi: 10.1038/gim.2014.29. Epub 2014 May 1.

7.

Incidental medical information in whole-exome sequencing.

Solomon BD, Hadley DW, Pineda-Alvarez DE; NISC Comparative Sequencing Program, Kamat A, Teer JK, Cherukuri PF, Hansen NF, Cruz P, Young AC, Berkman BE, Chandrasekharappa SC, Mullikin JC.

Pediatrics. 2012 Jun;129(6):e1605-11. doi: 10.1542/peds.2011-0080. Epub 2012 May 14.

8.

Clinical interpretation and implications of whole-genome sequencing.

Dewey FE, Grove ME, Pan C, Goldstein BA, Bernstein JA, Chaib H, Merker JD, Goldfeder RL, Enns GM, David SP, Pakdaman N, Ormond KE, Caleshu C, Kingham K, Klein TE, Whirl-Carrillo M, Sakamoto K, Wheeler MT, Butte AJ, Ford JM, Boxer L, Ioannidis JP, Yeung AC, Altman RB, Assimes TL, Snyder M, Ashley EA, Quertermous T.

JAMA. 2014 Mar 12;311(10):1035-45. doi: 10.1001/jama.2014.1717.

9.

A closer look revisited: are we subjects or are we donors?

Fisher R.

Genet Med. 2012 Apr;14(4):458-60. doi: 10.1038/gim.2012.6. Epub 2012 Feb 23.

PMID:
22361901
10.

Return of results: not that complicated?

Evans JP, Rothschild BB.

Genet Med. 2012 Apr;14(4):358-60. doi: 10.1038/gim.2012.8. No abstract available.

PMID:
22481183
11.

An empirical examination of the management of return of individual research results and incidental findings in genomic biobanks.

Johnson G, Lawrenz F, Thao M.

Genet Med. 2012 Apr;14(4):444-50. doi: 10.1038/gim.2012.20. Epub 2012 Feb 23.

PMID:
22361899
12.

Recommendations for returning genomic incidental findings? We need to talk!

Burke W, Antommaria AH, Bennett R, Botkin J, Clayton EW, Henderson GE, Holm IA, Jarvik GP, Khoury MJ, Knoppers BM, Press NA, Ross LF, Rothstein MA, Saal H, Uhlmann WR, Wilfond B, Wolf SM, Zimmern R.

Genet Med. 2013 Nov;15(11):854-9. doi: 10.1038/gim.2013.113. Epub 2013 Aug 1. Review.

13.

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.

14.

Generating a taxonomy for genetic conditions relevant to reproductive planning.

Korngiebel DM, McMullen CK, Amendola LM, Berg JS, Davis JV, Gilmore MJ, Harding CO, Himes P, Jarvik GP, Kauffman TL, Kennedy KA, Simpson DK, Leo MC, Lynch FL, Quigley DI, Reiss JA, Richards CS, Rope AF, Schneider JL, Goddard KA, Wilfond BS.

Am J Med Genet A. 2016 Mar;170(3):565-73. doi: 10.1002/ajmg.a.37513.

15.

Whole exome or genome sequencing: nurses need to prepare families for the possibilities.

Prows CA, Tran G, Blosser B.

J Adv Nurs. 2014 Dec;70(12):2736-45. doi: 10.1111/jan.12516. Epub 2014 Sep 1. Review.

PMID:
25175401
16.

Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.

Carss KJ, Arno G, Erwood M, Stephens J, Sanchis-Juan A, Hull S, Megy K, Grozeva D, Dewhurst E, Malka S, Plagnol V, Penkett C, Stirrups K, Rizzo R, Wright G, Josifova D, Bitner-Glindzicz M, Scott RH, Clement E, Allen L, Armstrong R, Brady AF, Carmichael J, Chitre M, Henderson RH, Hurst J, MacLaren RE, Murphy E, Paterson J, Rosser E, Thompson DA, Wakeling E, Ouwehand WH, Michaelides M, Moore AT; NIHR-BioResource Rare Diseases Consortium, Webster AR, Raymond FL.

Am J Hum Genet. 2017 Jan 5;100(1):75-90. doi: 10.1016/j.ajhg.2016.12.003. Epub 2016 Dec 29.

17.

Attitudes of genetics professionals toward the return of incidental results from exome and whole-genome sequencing.

Yu JH, Harrell TM, Jamal SM, Tabor HK, Bamshad MJ.

Am J Hum Genet. 2014 Jul 3;95(1):77-84. doi: 10.1016/j.ajhg.2014.06.004. Epub 2014 Jun 26.

18.

Parental attitudes, values, and beliefs toward the return of results from exome sequencing in children.

Sapp JC, Dong D, Stark C, Ivey LE, Hooker G, Biesecker LG, Biesecker BB.

Clin Genet. 2014 Feb;85(2):120-6. doi: 10.1111/cge.12254. Epub 2013 Sep 20.

19.

Views of primary care providers regarding the return of genome sequencing incidental findings.

Strong KA, Zusevics KL, Bick D, Veith R.

Clin Genet. 2014 Nov;86(5):461-8. doi: 10.1111/cge.12390. Epub 2014 May 20.

PMID:
24673592
20.

Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium.

Amendola LM, Jarvik GP, Leo MC, McLaughlin HM, Akkari Y, Amaral MD, Berg JS, Biswas S, Bowling KM, Conlin LK, Cooper GM, Dorschner MO, Dulik MC, Ghazani AA, Ghosh R, Green RC, Hart R, Horton C, Johnston JJ, Lebo MS, Milosavljevic A, Ou J, Pak CM, Patel RY, Punj S, Richards CS, Salama J, Strande NT, Yang Y, Plon SE, Biesecker LG, Rehm HL.

Am J Hum Genet. 2016 Jun 2;98(6):1067-76. doi: 10.1016/j.ajhg.2016.03.024. Epub 2016 May 12.

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