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Results: 1 to 20 of 233

1.

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
[PubMed - as supplied by publisher]
2.

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
[PubMed - as supplied by publisher]
3.

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. 2014 Jun 12. pii: S0006-3223(14)00422-3. doi: 10.1016/j.biopsych.2014.05.024. [Epub ahead of print] Review.

PMID:
25034947
[PubMed - as supplied by publisher]
4.

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;21(6):1060-8. doi: 10.1136/amiajnl-2014-002883. Epub 2014 Jun 26.

PMID:
24970839
[PubMed - in process]
5.

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
[PubMed - in process]
6.

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
[PubMed - indexed for MEDLINE]
7.

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
[PubMed - in process]
8.

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.

PMID:
24821734
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

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
[PubMed - indexed for MEDLINE]
10.

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.

PMID:
24751919
[PubMed - in process]
Free PMC Article
11.

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
[PubMed - indexed for MEDLINE]
12.

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.

PMID:
24667040
[PubMed - in process]
Free PMC Article
13.

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.

PMID:
24645908
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

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.

PMID:
24564913
[PubMed]
Free PMC Article
15.

Rare copy number variation in treatment-resistant major depressive disorder.

O'Dushlaine C, Ripke S, Ruderfer DM, Hamilton SP, Fava M, Iosifescu DV, Kohane IS, Churchill SE, Castro VM, Clements CC, Blumenthal SR, Murphy SN, Smoller JW, Perlis RH.

Biol Psychiatry. 2014 Oct 1;76(7):536-41. doi: 10.1016/j.biopsych.2013.10.028. Epub 2014 Jan 19.

PMID:
24529801
[PubMed - in process]
16.

Prioritizing disease-linked variants, genes, and pathways with an interactive whole-genome analysis pipeline.

Lee IH, Lee K, Hsing M, Choe Y, Park JH, Kim SH, Bohn JM, Neu MB, Hwang KB, Green RC, Kohane IS, Kong SW.

Hum Mutat. 2014 May;35(5):537-47. doi: 10.1002/humu.22520. Epub 2014 Mar 6.

PMID:
24478219
[PubMed - in process]
17.

Toward more transparent and reproducible omics studies through a common metadata checklist and data publications.

Kolker E, Özdemir V, Martens L, Hancock W, Anderson G, Anderson N, Aynacioglu S, Baranova A, Campagna SR, Chen R, Choiniere J, Dearth SP, Feng WC, Ferguson L, Fox G, Frishman D, Grossman R, Heath A, Higdon R, Hutz MH, Janko I, Jiang L, Joshi S, Kel A, Kemnitz JW, Kohane IS, Kolker N, Lancet D, Lee E, Li W, Lisitsa A, Llerena A, Macnealy-Koch C, Marshall JC, Masuzzo P, May A, Mias G, Monroe M, Montague E, Mooney S, Nesvizhskii A, Noronha S, Omenn G, Rajasimha H, Ramamoorthy P, Sheehan J, Smarr L, Smith CV, Smith T, Snyder M, Rapole S, Srivastava S, Stanberry L, Stewart E, Toppo S, Uetz P, Verheggen K, Voy BH, Warnich L, Wilhelm SW, Yandl G.

OMICS. 2014 Jan;18(1):10-4. doi: 10.1089/omi.2013.0149.

PMID:
24456465
[PubMed - indexed for MEDLINE]
18.

iPSC-derived neurons as a higher-throughput readout for autism: promises and pitfalls.

Prilutsky D, Palmer NP, Smedemark-Margulies N, Schlaeger TM, Margulies DM, Kohane IS.

Trends Mol Med. 2014 Feb;20(2):91-104. doi: 10.1016/j.molmed.2013.11.004. Epub 2013 Dec 24. Review.

PMID:
24374161
[PubMed - indexed for MEDLINE]
19.

EMR-linked GWAS study: investigation of variation landscape of loci for body mass index in children.

Namjou B, Keddache M, Marsolo K, Wagner M, Lingren T, Cobb B, Perry C, Kennebeck S, Holm IA, Li R, Crimmins NA, Martin L, Solti I, Kohane IS, Harley JB.

Front Genet. 2013 Dec 3;4:268. doi: 10.3389/fgene.2013.00268. eCollection 2013.

PMID:
24348519
[PubMed]
Free PMC Article
20.

Modeling disease severity in multiple sclerosis using electronic health records.

Xia Z, Secor E, Chibnik LB, Bove RM, Cheng S, Chitnis T, Cagan A, Gainer VS, Chen PJ, Liao KP, Shaw SY, Ananthakrishnan AN, Szolovits P, Weiner HL, Karlson EW, Murphy SN, Savova GK, Cai T, Churchill SE, Plenge RM, Kohane IS, De Jager PL.

PLoS One. 2013 Nov 11;8(11):e78927. doi: 10.1371/journal.pone.0078927. eCollection 2013.

PMID:
24244385
[PubMed - indexed for MEDLINE]
Free PMC Article

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