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Items: 1 to 20 of 497


Efficient strategy for the molecular diagnosis of intractable early-onset epilepsy using targeted gene sequencing.

Rim JH, Kim SH, Hwang IS, Kwon SS, Kim J, Kim HW, Cho MJ, Ko A, Youn SE, Kim J, Lee YM, Chung HJ, Lee JS, Kim HD, Choi JR, Lee ST, Kang HC.

BMC Med Genomics. 2018 Feb 1;11(1):6. doi: 10.1186/s12920-018-0320-7.


The current state of biomarkers of mild traumatic brain injury.

Kim HJ, Tsao JW, Stanfill AG.

JCI Insight. 2018 Jan 11;3(1). pii: 97105. doi: 10.1172/jci.insight.97105. [Epub ahead of print] Review.


Precision Military Medicine: Conducting a multi-site clinical utility study of genomic and lifestyle risk factors in the United States Air Force.

Delaney SK, Brenner R, Schmidlen TJ, Dempsey MP, London KE, Gordon ES, Bellafante M, Nasuti A, Scheinfeldt LB, Rajula KD, Jose L, Jarvis JP, Gerry NP, Christman MF.

NPJ Genom Med. 2017 Jan 19;2:2. doi: 10.1038/s41525-016-0004-1. eCollection 2017.


Critical research gaps and recommendations to inform research prioritisation for more effective prevention and improved outcomes in colorectal cancer.

Lawler M, Alsina D, Adams RA, Anderson AS, Brown G, Fearnhead NS, Fenwick SW, Halloran SP, Hochhauser D, Hull MA, Koelzer VH, McNair AGK, Monahan KJ, Näthke I, Norton C, Novelli MR, Steele RJC, Thomas AL, Wilde LM, Wilson RH, Tomlinson I; Bowel Cancer UK Critical Research Gaps in Colorectal Cancer Initiative.

Gut. 2018 Jan;67(1):179-193. doi: 10.1136/gutjnl-2017-315333. Review.


Low cost, low tech SNP genotyping tools for resource-limited areas: Plague in Madagascar as a model.

Mitchell CL, Andrianaivoarimanana V, Colman RE, Busch J, Hornstra-O'Neill H, Keim PS, Wagner DM, Rajerison M, Birdsell DN.

PLoS Negl Trop Dis. 2017 Dec 11;11(12):e0006077. doi: 10.1371/journal.pntd.0006077. eCollection 2017 Dec.


Ethical frameworks for obtaining informed consent in tumour profiling: an evidence-based case for Singapore.

Bylstra Y, Lysaght T, Thrivikraman J, Watson S, Tan P.

Hum Genomics. 2017 Dec 8;11(1):31. doi: 10.1186/s40246-017-0127-1.


Points to consider for laboratories reporting results from diagnostic genomic sequencing.

Vears DF, Sénécal K, Clarke AJ, Jackson L, Laberge AM, Lovrecic L, Piton A, Van Gassen KLI, Yntema HG, Knoppers BM, Borry P.

Eur J Hum Genet. 2018 Jan;26(1):36-43. doi: 10.1038/s41431-017-0043-9. Epub 2017 Nov 28.


Military genomics: a perspective on the successes and challenges of genomic medicine in the Armed Services.

De Castro MJ, Turner CE.

Mol Genet Genomic Med. 2017 Nov;5(6):617-620. doi: 10.1002/mgg3.335. Epub 2017 Sep 14.


An electronic health record based model predicts statin adherence, LDL cholesterol, and cardiovascular disease in the United States Military Health System.

Lucas JE, Bazemore TC, Alo C, Monahan PB, Voora D.

PLoS One. 2017 Nov 20;12(11):e0187809. doi: 10.1371/journal.pone.0187809. eCollection 2017.


Proband-only medical exome sequencing as a cost-effective first-tier genetic diagnostic test for patients without prior molecular tests and clinical diagnosis in a developing country: the China experience.

Hu X, Li N, Xu Y, Li G, Yu T, Yao RE, Fu L, Wang J, Yin L, Yin Y, Wang Y, Jin X, Wang X, Wang J, Shen Y.

Genet Med. 2017 Nov 2. doi: 10.1038/gim.2017.195. [Epub ahead of print]


Development of a national audit tool for juvenile idiopathic arthritis: a BSPAR project funded by the Health Care Quality Improvement Partnership.

McErlane F, Foster HE, Armitt G, Bailey K, Cobb J, Davidson JE, Douglas S, Fell A, Friswell M, Pilkington C, Strike H, Smith N, Thomson W, Cleary G.

Rheumatology (Oxford). 2018 Jan 1;57(1):140-151. doi: 10.1093/rheumatology/kex322.


Equity in international health research collaborations in Africa: Perceptions and expectations of African researchers.

Munung NS, Mayosi BM, de Vries J.

PLoS One. 2017 Oct 16;12(10):e0186237. doi: 10.1371/journal.pone.0186237. eCollection 2017.


Critical Assessment of Metagenome Interpretation-a benchmark of metagenomics software.

Sczyrba A, Hofmann P, Belmann P, Koslicki D, Janssen S, Dröge J, Gregor I, Majda S, Fiedler J, Dahms E, Bremges A, Fritz A, Garrido-Oter R, Jørgensen TS, Shapiro N, Blood PD, Gurevich A, Bai Y, Turaev D, DeMaere MZ, Chikhi R, Nagarajan N, Quince C, Meyer F, Balvočiūtė M, Hansen LH, Sørensen SJ, Chia BKH, Denis B, Froula JL, Wang Z, Egan R, Don Kang D, Cook JJ, Deltel C, Beckstette M, Lemaitre C, Peterlongo P, Rizk G, Lavenier D, Wu YW, Singer SW, Jain C, Strous M, Klingenberg H, Meinicke P, Barton MD, Lingner T, Lin HH, Liao YC, Silva GGZ, Cuevas DA, Edwards RA, Saha S, Piro VC, Renard BY, Pop M, Klenk HP, Göker M, Kyrpides NC, Woyke T, Vorholt JA, Schulze-Lefert P, Rubin EM, Darling AE, Rattei T, McHardy AC.

Nat Methods. 2017 Nov;14(11):1063-1071. doi: 10.1038/nmeth.4458. Epub 2017 Oct 2.


FORWARD: A Registry and Longitudinal Clinical Database to Study Fragile X Syndrome.

Sherman SL, Kidd SA, Riley C, Berry-Kravis E, Andrews HF, Miller RM, Lincoln S, Swanson M, Kaufmann WE, Brown WT.

Pediatrics. 2017 Jun;139(Suppl 3):S183-S193. doi: 10.1542/peds.2016-1159E.


Patient and Physician Perceptions of Genetic Testing in Primary Care.

Evenson SA, Hoyme HE, Haugen-Rogers JE, Larson EA, Puumala SE.

S D Med. 2016 Nov;69(11):487-493.


Healthcare professionals' and patients' perspectives on consent to clinical genetic testing: moving towards a more relational approach.

Samuel GN, Dheensa S, Farsides B, Fenwick A, Lucassen A.

BMC Med Ethics. 2017 Aug 8;18(1):47. doi: 10.1186/s12910-017-0207-8.


Reporting practices for variants of uncertain significance from next generation sequencing technologies.

Vears DF, Sénécal K, Borry P.

Eur J Med Genet. 2017 Oct;60(10):553-558. doi: 10.1016/j.ejmg.2017.07.016. Epub 2017 Aug 1.


Pre- and post-testing counseling considerations for the provision of expanded carrier screening: exploration of European geneticists' views.

Janssens S, Chokoshvili D, Vears DF, De Paepe A, Borry P.

BMC Med Ethics. 2017 Aug 1;18(1):46. doi: 10.1186/s12910-017-0206-9.


Penile Anaerobic Dysbiosis as a Risk Factor for HIV Infection.

Liu CM, Prodger JL, Tobian AAR, Abraham AG, Kigozi G, Hungate BA, Aziz M, Nalugoda F, Sariya S, Serwadda D, Kaul R, Gray RH, Price LB.

MBio. 2017 Jul 25;8(4). pii: e00996-17. doi: 10.1128/mBio.00996-17.


Identifying Health Information Technology Needs of Oncologists to Facilitate the Adoption of Genomic Medicine: Recommendations From the 2016 American Society of Clinical Oncology Omics and Precision Oncology Workshop.

Hughes KS, Ambinder EP, Hess GP, Yu PP, Bernstam EV, Routbort MJ, Clemenceau JR, Hamm JT, Febbo PG, Domchek SM, Chen JL, Warner JL; OPO Workshop Members.

J Clin Oncol. 2017 Sep 20;35(27):3153-3159. doi: 10.1200/JCO.2017.74.1744. Epub 2017 Jul 24.


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