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Results: 1 to 20 of 239

1.

Federalist principles for healthcare data networks.

Mandl KD, Kohane IS.

Nat Biotechnol. 2015 Apr 7;33(4):360-3. doi: 10.1038/nbt.3180. No abstract available.

PMID:
25850061
2.

A clinical perspective on the relevance of research domain criteria in electronic health records.

McCoy TH, Castro VM, Rosenfield HR, Cagan A, Kohane IS, Perlis RH.

Am J Psychiatry. 2015 Apr 1;172(4):316-20. doi: 10.1176/appi.ajp.2014.14091177.

PMID:
25827030
3.

A systematic approach to the reporting of medically relevant findings from whole genome sequencing.

McLaughlin HM, Ceyhan-Birsoy O, Christensen KD, Kohane IS, Krier J, Lane WJ, Lautenbach D, Lebo MS, Machini K, MacRae CA, Azzariti DR, Murray MF, Seidman CE, Vassy JL, Green RC, Rehm HL; MedSeq Project.

BMC Med Genet. 2014 Dec 14;15:134. doi: 10.1186/s12881-014-0134-1.

4.

A one-page summary report of genome sequencing for the healthy adult.

Vassy JL, McLaughlin HL, MacRae CA, Seidman CE, Lautenbach D, Krier JB, Lane WJ, Kohane IS, Murray MF, McGuire AL, Rehm HL, Green RC.

Public Health Genomics. 2015;18(2):123-9. doi: 10.1159/000370102. Epub 2015 Jan 21.

PMID:
25612602
5.

A microRNA-1280/JAG2 network comprises a novel biological target in high-risk medulloblastoma.

Wang F, Remke M, Bhat K, Wong ET, Zhou S, Ramaswamy V, Dubuc A, Fonkem E, Salem S, Zhang H, Hsieh TC, O'Rourke ST, Wu L, Li DW, Hawkins C, Kohane IS, Wu JM, Wu M, Taylor MD, Wu E.

Oncotarget. 2015 Feb 20;6(5):2709-24.

6.

Phenome-wide association study (PheWAS) in EMR-linked pediatric cohorts, genetically links PLCL1 to speech language development and IL5-IL13 to Eosinophilic Esophagitis.

Namjou B, Marsolo K, Caroll RJ, Denny JC, Ritchie MD, Verma SS, Lingren T, Porollo A, Cobb BL, Perry C, Kottyan LC, Rothenberg ME, Thompson SD, Holm IA, Kohane IS, Harley JB.

Front Genet. 2014 Nov 18;5:401. doi: 10.3389/fgene.2014.00401. eCollection 2014.

7.

Summarizing polygenic risks for complex diseases in a clinical whole-genome report.

Kong SW, Lee IH, Leshchiner I, Krier J, Kraft P, Rehm HL, Green RC, Kohane IS, MacRae CA.

Genet Med. 2014 Oct 23. doi: 10.1038/gim.2014.143. [Epub ahead of print]

PMID:
25341114
8.

Prenatal antidepressant exposure is associated with risk for attention-deficit hyperactivity disorder but not autism spectrum disorder in a large health system.

Clements CC, Castro VM, Blumenthal SR, Rosenfield HR, Murphy SN, Fava M, Erb JL, Churchill SE, Kaimal AJ, Doyle AE, Robinson EB, Smoller JW, Kohane IS, Perlis RH.

Mol Psychiatry. 2014 Aug 26. doi: 10.1038/mp.2014.90. [Epub ahead of print]

PMID:
25155880
9.

An autism case history to review the systematic analysis of large-scale data to refine the diagnosis and treatment of neuropsychiatric disorders.

Kohane IS.

Biol Psychiatry. 2015 Jan 1;77(1):59-65. doi: 10.1016/j.biopsych.2014.05.024. Epub 2014 Jun 12.

PMID:
25034947
10.

Are Meaningful Use Stage 2 certified EHRs ready for interoperability? Findings from the SMART C-CDA Collaborative.

D'Amore JD, Mandel JC, Kreda DA, Swain A, Koromia GA, Sundareswaran S, Alschuler L, Dolin RH, Mandl KD, Kohane IS, Ramoni RB.

J Am Med Inform Assoc. 2014 Nov-Dec;21(6):1060-8. doi: 10.1136/amiajnl-2014-002883. Epub 2014 Jun 26.

11.

An electronic health records study of long-term weight gain following antidepressant use.

Blumenthal SR, Castro VM, Clements CC, Rosenfield HR, Murphy SN, Fava M, Weilburg JB, Erb JL, Churchill SE, Kohane IS, Smoller JW, Perlis RH.

JAMA Psychiatry. 2014 Aug;71(8):889-96. doi: 10.1001/jamapsychiatry.2014.414.

PMID:
24898363
12.

Finding the missing link for big biomedical data.

Weber GM, Mandl KD, Kohane IS.

JAMA. 2014 Jun 25;311(24):2479-80. No abstract available.

PMID:
24854141
13.

Reducing false-positive incidental findings with ensemble genotyping and logistic regression based variant filtering methods.

Hwang KB, Lee IH, Park JH, Hambuch T, Choe Y, Kim M, Lee K, Song T, Neu MB, Gupta N, Kohane IS, Green RC, Kong SW.

Hum Mutat. 2014 Aug;35(8):936-44. doi: 10.1002/humu.22587. Epub 2014 Jun 24.

PMID:
24829188
14.

Scalable Collaborative Infrastructure for a Learning Healthcare System (SCILHS): architecture.

Mandl KD, Kohane IS, McFadden D, Weber GM, Natter M, Mandel J, Schneeweiss S, Weiler S, Klann JG, Bickel J, Adams WG, Ge Y, Zhou X, Perkins J, Marsolo K, Bernstam E, Showalter J, Quarshie A, Ofili E, Hripcsak G, Murphy SN.

J Am Med Inform Assoc. 2014 Jul-Aug;21(4):615-20. doi: 10.1136/amiajnl-2014-002727. Epub 2014 May 12.

15.

Medicine's uncomfortable relationship with math: calculating positive predictive value.

Manrai AK, Bhatia G, Strymish J, Kohane IS, Jain SH.

JAMA Intern Med. 2014 Jun;174(6):991-3. doi: 10.1001/jamainternmed.2014.1059. No abstract available.

PMID:
24756486
16.

HD CAGnome: a search tool for huntingtin CAG repeat length-correlated genes.

Galkina EI, Shin A, Coser KR, Shioda T, Kohane IS, Seong IS, Wheeler VC, Gusella JF, Macdonald ME, Lee JM.

PLoS One. 2014 Apr 21;9(4):e95556. doi: 10.1371/journal.pone.0095556. eCollection 2014.

17.

Population-level evidence for an autoimmune etiology of epilepsy.

Ong MS, Kohane IS, Cai T, Gorman MP, Mandl KD.

JAMA Neurol. 2014 May;71(5):569-74. doi: 10.1001/jamaneurol.2014.188.

PMID:
24687183
18.

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.

Brownstein CA, Beggs AH, Homer N, Merriman B, Yu TW, Flannery KC, DeChene ET, Towne MC, Savage SK, Price EN, Holm IA, Luquette LJ, Lyon E, Majzoub J, Neupert P, McCallie D Jr, Szolovits P, Willard HF, Mendelsohn NJ, Temme R, Finkel RS, Yum SW, Medne L, Sunyaev SR, Adzhubey I, Cassa CA, de Bakker PI, Duzkale H, Dworzyński P, Fairbrother W, Francioli L, Funke BH, Giovanni MA, Handsaker RE, Lage K, Lebo MS, Lek M, Leshchiner I, MacArthur DG, McLaughlin HM, Murray MF, Pers TH, Polak PP, Raychaudhuri S, Rehm HL, Soemedi R, Stitziel NO, Vestecka S, Supper J, Gugenmus C, Klocke B, Hahn A, Schubach M, Menzel M, Biskup S, Freisinger P, Deng M, Braun M, Perner S, Smith RJ, Andorf JL, Huang J, Ryckman K, Sheffield VC, Stone EM, Bair T, Black-Ziegelbein EA, Braun TA, Darbro B, DeLuca AP, Kolbe DL, Scheetz TE, Shearer AE, Sompallae R, Wang K, Bassuk AG, Edens E, Mathews K, Moore SA, Shchelochkov OA, Trapane P, Bossler A, Campbell CA, Heusel JW, Kwitek A, Maga T, Panzer K, Wassink T, Van Daele D, Azaiez H, Booth K, Meyer N, Segal MM, Williams MS, Tromp G, White P, Corsmeier D, Fitzgerald-Butt S, Herman G, Lamb-Thrush D, McBride KL, Newsom D, Pierson CR, Rakowsky AT, Maver A, Lovrečić L, Palandačić A, Peterlin B, Torkamani A, Wedell A, Huss M, Alexeyenko A, Lindvall JM, Magnusson M, Nilsson D, Stranneheim H, Taylan F, Gilissen C, Hoischen A, van Bon B, Yntema H, Nelen M, Zhang W, Sager J, Zhang L, Blair K, Kural D, Cariaso M, Lennon GG, Javed A, Agrawal S, Ng PC, Sandhu KS, Krishna S, Veeramachaneni V, Isakov O, Halperin E, Friedman E, Shomron N, Glusman G, Roach JC, Caballero J, Cox HC, Mauldin D, Ament SA, Rowen L, Richards DR, San Lucas FA, Gonzalez-Garay ML, Caskey CT, Bai Y, Huang Y, Fang F, Zhang Y, Wang Z, Barrera J, Garcia-Lobo JM, González-Lamuño D, Llorca J, Rodriguez MC, Varela I, Reese MG, De La Vega FM, Kiruluta E, Cargill M, Hart RK, Sorenson JM, Lyon GJ, Stevenson DA, Bray BE, Moore BM, Eilbeck K, Yandell M, Zhao H, Hou L, Chen X, Yan X, Chen M, Li C, Yang C, Gunel M, Li P, Kong Y, Alexander AC, Albertyn ZI, Boycott KM, Bulman DE, Gordon PM, Innes AM, Knoppers BM, Majewski J, Marshall CR, Parboosingh JS, Sawyer SL, Samuels ME, Schwartzentruber J, Kohane IS, Margulies DM.

Genome Biol. 2014 Mar 25;15(3):R53. doi: 10.1186/gb-2014-15-3-r53.

19.

The MedSeq Project: a randomized trial of integrating whole genome sequencing into clinical medicine.

Vassy JL, Lautenbach DM, McLaughlin HM, Kong SW, Christensen KD, Krier J, Kohane IS, Feuerman LZ, Blumenthal-Barby J, Roberts JS, Lehmann LS, Ho CY, Ubel PA, MacRae CA, Seidman CE, Murray MF, McGuire AL, Rehm HL, Green RC; MedSeq Project.

Trials. 2014 Mar 20;15:85. doi: 10.1186/1745-6215-15-85.

20.

Divergent dysregulation of gene expression in murine models of fragile X syndrome and tuberous sclerosis.

Kong SW, Sahin M, Collins CD, Wertz MH, Campbell MG, Leech JD, Krueger D, Bear MF, Kunkel LM, Kohane IS.

Mol Autism. 2014 Feb 24;5(1):16. doi: 10.1186/2040-2392-5-16.

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