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Results: 1 to 20 of 107

1.

Targeted next-generation sequencing in monogenic dyslipidemias.

Hegele RA, Ban MR, Cao H, McIntyre AD, Robinson JF, Wang J.

Curr Opin Lipidol. 2015 Feb 16. [Epub ahead of print]

PMID:
25692347
[PubMed - as supplied by publisher]
2.

Reporting incidental findings in genomic scale clinical sequencing-a clinical laboratory perspective: a report of the association for molecular pathology.

Hegde M, Bale S, Bayrak-Toydemir P, Gibson J, Bone Jeng LJ, Joseph L, Laser J, Lubin IM, Miller CE, Ross LF, Rothberg PG, Tanner AK, Vitazka P, Mao R.

J Mol Diagn. 2015 Mar;17(2):107-17. doi: 10.1016/j.jmoldx.2014.10.004. Epub 2015 Feb 12.

PMID:
25684271
[PubMed - in process]
3.

Reporting Incidental Findings in Genomic Scale Clinical Sequencing-A Clinical Laboratory Perspective: A Report of the Association for Molecular Pathology.

Hegde M, Bale S, Bayrak-Toydemir P, Gibson J, Bone Jeng LJ, Joseph L, Laser J, Lubin IM, Miller CE, Ross LF, Rothberg PG, Tanner AK, Vitazka P, Mao R.

J Mol Diagn. 2015 Feb 11. pii: S1525-1578(14)00245-1. doi: 10.1016/j.jmoldx.2014.10.004. [Epub ahead of print]

PMID:
25684262
[PubMed - as supplied by publisher]
4.

When Should Genome Researchers Disclose Misattributed Parentage?

Mandava A, Millum J, Berkman BE.

Hastings Cent Rep. 2015 Feb 11. doi: 10.1002/hast.452. [Epub ahead of print]

PMID:
25677868
[PubMed - as supplied by publisher]
5.

Focus group discussions on secondary variants and next-generation sequencing technologies.

Christenhusz GM, Devriendt K, Van Esch H, Dierickx K.

Eur J Med Genet. 2015 Feb 3. pii: S1769-7212(15)00011-7. doi: 10.1016/j.ejmg.2015.01.007. [Epub ahead of print]

PMID:
25662393
[PubMed - as supplied by publisher]
6.

Actionable exomic incidental findings in 6503 participants: challenges of variant classification.

Amendola LM, Dorschner MO, Robertson PD, Salama JS, Hart R, Shirts BH, Murray ML, Tokita MJ, Gallego CJ, Kim DS, Bennett JT, Crosslin DR, Ranchalis J, Jones KL, Rosenthal EA, Jarvik ER, Itsara A, Turner EH, Herman DS, Schleit J, Burt A, Jamal SM, Abrudan JL, Johnson AD, Conlin LK, Dulik MC, Santani A, Metterville DR, Kelly M, Foreman AK, Lee K, Taylor KD, Guo X, Crooks K, Kiedrowski LA, Raffel LJ, Gordon O, Machini K, Desnick RJ, Biesecker LG, Lubitz SA, Mulchandani S, Cooper GM, Joffe S, Richards CS, Yang Y, Rotter JI, Rich SS, O'Donnell CJ, Berg JS, Spinner NB, Evans JP, Fullerton SM, Leppig KA, Bennett RL, Bird T, Sybert VP, Grady WM, Tabor HK, Kim JH, Bamshad MJ, Wilfond B, Motulsky AG, Scott CR, Pritchard CC, Walsh TD, Burke W, Raskind WH, Byers P, Hisama FM, Rehm H, Nickerson DA, Jarvik GP.

Genome Res. 2015 Jan 30. pii: gr.183483.114. [Epub ahead of print]

PMID:
25637381
[PubMed - as supplied by publisher]
Free Article
7.

Association of Researcher Characteristics with Views on Return of Incidental Findings from Genomic Research.

Wynn J, Martinez J, Duong J, Zhang Y, Phelan J, Fyer A, Klitzman R, Appelbaum PS, Chung WK.

J Genet Couns. 2015 Jan 17. [Epub ahead of print]

PMID:
25592144
[PubMed - as supplied by publisher]
8.

Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease.

Roberts AM, Ware JS, Herman DS, Schafer S, Baksi J, Bick AG, Buchan RJ, Walsh R, John S, Wilkinson S, Mazzarotto F, Felkin LE, Gong S, L MacArthur JA, Cunningham F, Flannick J, Gabriel SB, Altshuler DM, Macdonald PS, Heinig M, Keogh AM, Hayward CS, Banner NR, Pennell DJ, O'Regan DP, San TR, de Marvao A, W Dawes TJ, Gulati A, Birks EJ, Yacoub MH, Radke M, Gotthardt M, Wilson JG, O'Donnell CJ, Prasad SK, R Barton PJ, Fatkin D, Hubner N, Seidman JG, Seidman CE, Cook SA.

Sci Transl Med. 2015 Jan 14;7(270):270ra6. doi: 10.1126/scitranslmed.3010134.

PMID:
25589632
[PubMed - in process]
9.

Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data.

Wright CF, Fitzgerald TW, Jones WD, Clayton S, McRae JF, van Kogelenberg M, King DA, Ambridge K, Barrett DM, Bayzetinova T, Bevan AP, Bragin E, Chatzimichali EA, Gribble S, Jones P, Krishnappa N, Mason LE, Miller R, Morley KI, Parthiban V, Prigmore E, Rajan D, Sifrim A, Swaminathan GJ, Tivey AR, Middleton A, Parker M, Carter NP, Barrett JC, Hurles ME, FitzPatrick DR, Firth HV; on behalf of the DDD study.

Lancet. 2014 Dec 16. pii: S0140-6736(14)61705-0. doi: 10.1016/S0140-6736(14)61705-0. [Epub ahead of print]

PMID:
25529582
[PubMed - as supplied by publisher]
Free Article
10.
11.

How Can Psychological Science Inform Research About Genetic Counseling for Clinical Genomic Sequencing?

Khan CM, Rini C, Bernhardt BA, Roberts JS, Christensen KD, Evans JP, Brothers KB, Roche MI, Berg JS, Henderson GE.

J Genet Couns. 2014 Dec 9. [Epub ahead of print]

PMID:
25488723
[PubMed - as supplied by publisher]
12.

The cost-effectiveness of returning incidental findings from next-generation genomic sequencing.

Bennette CS, Gallego CJ, Burke W, Jarvik GP, Veenstra DL.

Genet Med. 2014 Nov 13. doi: 10.1038/gim.2014.156. [Epub ahead of print]

PMID:
25394171
[PubMed - as supplied by publisher]
13.

Management and return of incidental genomic findings in clinical trials.

Ayuso C, Millan JM, Dal-Re R.

Pharmacogenomics J. 2015 Feb;15(1):1-5. doi: 10.1038/tpj.2014.62. Epub 2014 Oct 28.

PMID:
25348616
[PubMed - in process]
14.

Finding Fault? Exploring Legal Duties to Return Incidental Findings in Genomic Research.

Pike ER, Rothenberg KH, Berkman BE.

Georgetown Law J. 2014;102:795-843.

PMID:
25346543
[PubMed]
Free PMC Article
15.

Next generation sequencing: considering the ethics.

Davey S.

Int J Immunogenet. 2014 Dec;41(6):457-62. doi: 10.1111/iji.12155. Epub 2014 Oct 27.

PMID:
25345691
[PubMed - in process]
16.

Disease variants in genomes of 44 centenarians.

Freudenberg-Hua Y, Freudenberg J, Vacic V, Abhyankar A, Emde AK, Ben-Avraham D, Barzilai N, Oschwald D, Christen E, Koppel J, Greenwald B, Darnell RB, Germer S, Atzmon G, Davies P.

Mol Genet Genomic Med. 2014 Sep;2(5):438-50. doi: 10.1002/mgg3.86. Epub 2014 Jun 15.

PMID:
25333069
[PubMed]
Free PMC Article
17.

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.

PMID:
25326635
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

Developing genomic knowledge bases and databases to support clinical management: current perspectives.

Huser V, Sincan M, Cimino JJ.

Pharmgenomics Pers Med. 2014 Sep 9;7:275-83. doi: 10.2147/PGPM.S49904. eCollection 2014. Review.

PMID:
25276091
[PubMed]
Free PMC Article
19.

Incidence of and factors associated with false positives in laboratory diagnosis of norovirus infection by amplification of the RNA-dependent RNA polymerase gene.

Lin FR, Shen YH, Fang CW, Shie SS, Huang CG, Yang S, Yang SL, Tsao KC, Huang YC, Lai MW, Chen CJ.

PLoS One. 2014 Sep 29;9(9):e109876. doi: 10.1371/journal.pone.0109876. eCollection 2014.

PMID:
25264621
[PubMed - in process]
Free PMC Article
20.

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.

PMID:
25251809
[PubMed - in process]
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