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Items: 1 to 50 of 292

1.

Probabilistic record linkage of de-identified research datasets with discrepancies using diagnosis codes.

Hejblum BP, Weber GM, Liao KP, Palmer NP, Churchill S, Shadick NA, Szolovits P, Murphy SN, Kohane IS, Cai T.

Sci Data. 2019 Jan 8;6:180298. doi: 10.1038/sdata.2018.298.

2.

Publisher Correction: Computational repositioning and preclinical validation of mifepristone for human vestibular schwannoma.

Sagers JE, Brown AS, Vasilijic S, Lewis RM, Sahin MI, Landegger LD, Perlis RH, Kohane IS, Welling DB, Patel CJ, Stankovic KM.

Sci Rep. 2018 Nov 23;8(1):17449. doi: 10.1038/s41598-018-36016-9.

3.

Data-driven analyses revealed the comorbidity landscape of tuberous sclerosis complex.

Yu KH, Miron O, Palmer N, Lemos DR, Fox K, Kou SC, Sahin M, Kohane IS.

Neurology. 2018 Nov 20;91(21):974-976. doi: 10.1212/WNL.0000000000006546. Epub 2018 Oct 17. No abstract available. Erratum in: Neurology. 2018 Dec 4;91(23):1074.

PMID:
30333165
4.

Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease.

Splinter K, Adams DR, Bacino CA, Bellen HJ, Bernstein JA, Cheatle-Jarvela AM, Eng CM, Esteves C, Gahl WA, Hamid R, Jacob HJ, Kikani B, Koeller DM, Kohane IS, Lee BH, Loscalzo J, Luo X, McCray AT, Metz TO, Mulvihill JJ, Nelson SF, Palmer CGS, Phillips JA 3rd, Pick L, Postlethwait JH, Reuter C, Shashi V, Sweetser DA, Tifft CJ, Walley NM, Wangler MF, Westerfield M, Wheeler MT, Wise AL, Worthey EA, Yamamoto S, Ashley EA; Undiagnosed Diseases Network.

N Engl J Med. 2018 Nov 29;379(22):2131-2139. doi: 10.1056/NEJMoa1714458. Epub 2018 Oct 10.

PMID:
30304647
5.

Framing the challenges of artificial intelligence in medicine.

Yu KH, Kohane IS.

BMJ Qual Saf. 2019 Mar;28(3):238-241. doi: 10.1136/bmjqs-2018-008551. Epub 2018 Oct 5. No abstract available.

PMID:
30291179
6.

A Cloud-Based Metabolite and Chemical Prioritization System for the Biology/Disease-Driven Human Proteome Project.

Yu KH, Lee TM, Chen YJ, Ré C, Kou SC, Chiang JH, Snyder M, Kohane IS.

J Proteome Res. 2018 Aug 21. doi: 10.1021/acs.jproteome.8b00378. [Epub ahead of print]

PMID:
30094994
7.

PheProb: probabilistic phenotyping using diagnosis codes to improve power for genetic association studies.

Sinnott JA, Cai F, Yu S, Hejblum BP, Hong C, Kohane IS, Liao KP.

J Am Med Inform Assoc. 2018 Oct 1;25(10):1359-1365. doi: 10.1093/jamia/ocy056.

8.

Development of an Algorithm to Identify Patients with Physician-Documented Insomnia.

Kartoun U, Aggarwal R, Beam AL, Pai JK, Chatterjee AK, Fitzgerald TP, Kohane IS, Shaw SY.

Sci Rep. 2018 May 18;8(1):7862. doi: 10.1038/s41598-018-25312-z.

9.
10.

Genome-wide association analyses identify 44 risk variants and refine the genetic architecture of major depression.

Wray NR, Ripke S, Mattheisen M, Trzaskowski M, Byrne EM, Abdellaoui A, Adams MJ, Agerbo E, Air TM, Andlauer TMF, Bacanu SA, Bækvad-Hansen M, Beekman AFT, Bigdeli TB, Binder EB, Blackwood DRH, Bryois J, Buttenschøn HN, Bybjerg-Grauholm J, Cai N, Castelao E, Christensen JH, Clarke TK, Coleman JIR, Colodro-Conde L, Couvy-Duchesne B, Craddock N, Crawford GE, Crowley CA, Dashti HS, Davies G, Deary IJ, Degenhardt F, Derks EM, Direk N, Dolan CV, Dunn EC, Eley TC, Eriksson N, Escott-Price V, Kiadeh FHF, Finucane HK, Forstner AJ, Frank J, Gaspar HA, Gill M, Giusti-Rodríguez P, Goes FS, Gordon SD, Grove J, Hall LS, Hannon E, Hansen CS, Hansen TF, Herms S, Hickie IB, Hoffmann P, Homuth G, Horn C, Hottenga JJ, Hougaard DM, Hu M, Hyde CL, Ising M, Jansen R, Jin F, Jorgenson E, Knowles JA, Kohane IS, Kraft J, Kretzschmar WW, Krogh J, Kutalik Z, Lane JM, Li Y, Li Y, Lind PA, Liu X, Lu L, MacIntyre DJ, MacKinnon DF, Maier RM, Maier W, Marchini J, Mbarek H, McGrath P, McGuffin P, Medland SE, Mehta D, Middeldorp CM, Mihailov E, Milaneschi Y, Milani L, Mill J, Mondimore FM, Montgomery GW, Mostafavi S, Mullins N, Nauck M, Ng B, Nivard MG, Nyholt DR, O'Reilly PF, Oskarsson H, Owen MJ, Painter JN, Pedersen CB, Pedersen MG, Peterson RE, Pettersson E, Peyrot WJ, Pistis G, Posthuma D, Purcell SM, Quiroz JA, Qvist P, Rice JP, Riley BP, Rivera M, Saeed Mirza S, Saxena R, Schoevers R, Schulte EC, Shen L, Shi J, Shyn SI, Sigurdsson E, Sinnamon GBC, Smit JH, Smith DJ, Stefansson H, Steinberg S, Stockmeier CA, Streit F, Strohmaier J, Tansey KE, Teismann H, Teumer A, Thompson W, Thomson PA, Thorgeirsson TE, Tian C, Traylor M, Treutlein J, Trubetskoy V, Uitterlinden AG, Umbricht D, Van der Auwera S, van Hemert AM, Viktorin A, Visscher PM, Wang Y, Webb BT, Weinsheimer SM, Wellmann J, Willemsen G, Witt SH, Wu Y, Xi HS, Yang J, Zhang F; eQTLGen; 23andMe, Arolt V, Baune BT, Berger K, Boomsma DI, Cichon S, Dannlowski U, de Geus ECJ, DePaulo JR, Domenici E, Domschke K, Esko T, Grabe HJ, Hamilton SP, Hayward C, Heath AC, Hinds DA, Kendler KS, Kloiber S, Lewis G, Li QS, Lucae S, Madden PFA, Magnusson PK, Martin NG, McIntosh AM, Metspalu A, Mors O, Mortensen PB, Müller-Myhsok B, Nordentoft M, Nöthen MM, O'Donovan MC, Paciga SA, Pedersen NL, Penninx BWJH, Perlis RH, Porteous DJ, Potash JB, Preisig M, Rietschel M, Schaefer C, Schulze TG, Smoller JW, Stefansson K, Tiemeier H, Uher R, Völzke H, Weissman MM, Werge T, Winslow AR, Lewis CM, Levinson DF, Breen G, Børglum AD, Sullivan PF; Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium.

Nat Genet. 2018 May;50(5):668-681. doi: 10.1038/s41588-018-0090-3. Epub 2018 Apr 26.

11.

Computational repositioning and preclinical validation of mifepristone for human vestibular schwannoma.

Sagers JE, Brown AS, Vasilijic S, Lewis RM, Sahin MI, Landegger LD, Perlis RH, Kohane IS, Welling DB, Patel CJ, Stankovic KM.

Sci Rep. 2018 Apr 3;8(1):5437. doi: 10.1038/s41598-018-23609-7. Erratum in: Sci Rep. 2018 Nov 23;8(1):17449.

12.

Biomedical informatics and machine learning for clinical genomics.

Diao JA, Kohane IS, Manrai AK.

Hum Mol Genet. 2018 May 1;27(R1):R29-R34. doi: 10.1093/hmg/ddy088.

PMID:
29566172
13.

Big Data and Machine Learning in Health Care.

Beam AL, Kohane IS.

JAMA. 2018 Apr 3;319(13):1317-1318. doi: 10.1001/jama.2017.18391. No abstract available.

PMID:
29532063
14.

Systematic Protein Prioritization for Targeted Proteomics Studies through Literature Mining.

Yu KH, Lee TM, Wang CS, Chen YJ, Ré C, Kou SC, Chiang JH, Kohane IS, Snyder M.

J Proteome Res. 2018 Apr 6;17(4):1383-1396. doi: 10.1021/acs.jproteome.7b00772. Epub 2018 Mar 15.

PMID:
29505266
15.

Rcupcake: an R package for querying and analyzing biomedical data through the BD2K PIC-SURE RESTful API.

Gutiérrez-Sacristán A, Guedj R, Korodi G, Stedman J, Furlong LI, Patel CJ, Kohane IS, Avillach P.

Bioinformatics. 2018 Apr 15;34(8):1431-1432. doi: 10.1093/bioinformatics/btx788.

16.

Enabling phenotypic big data with PheNorm.

Yu S, Ma Y, Gronsbell J, Cai T, Ananthakrishnan AN, Gainer VS, Churchill SE, Szolovits P, Murphy SN, Kohane IS, Liao KP, Cai T.

J Am Med Inform Assoc. 2018 Jan 1;25(1):54-60. doi: 10.1093/jamia/ocx111.

17.

Auditory brainstem response in infants and children with autism spectrum disorder: A meta-analysis of wave V.

Miron O, Beam AL, Kohane IS.

Autism Res. 2018 Feb;11(2):355-363. doi: 10.1002/aur.1886. Epub 2017 Oct 31.

18.

Utilization, Cost, and Outcome of Branded vs Compounded 17-Alpha Hydroxyprogesterone Caproate in Prevention of Preterm Birth.

Fried I, Beam AL, Kohane IS, Palmer NP.

JAMA Intern Med. 2017 Nov 1;177(11):1689-1690. doi: 10.1001/jamainternmed.2017.5017. No abstract available.

19.

Creating a data resource: what will it take to build a medical information commons?

Deverka PA, Majumder MA, Villanueva AG, Anderson M, Bakker AC, Bardill J, Boerwinkle E, Bubela T, Evans BJ, Garrison NA, Gibbs RA, Gentleman R, Glazer D, Goldstein MM, Greely H, Harris C, Knoppers BM, Koenig BA, Kohane IS, La Rosa S, Mattison J, O'Donnell CJ, Rai AK, Rehm HL, Rodriguez LL, Shelton R, Simoncelli T, Terry SF, Watson MS, Wilbanks J, Cook-Deegan R, McGuire AL.

Genome Med. 2017 Sep 22;9(1):84. doi: 10.1186/s13073-017-0476-3.

20.

Comprehensive Analysis of Tissue-wide Gene Expression and Phenotype Data Reveals Tissues Affected in Rare Genetic Disorders.

Feiglin A, Allen BK, Kohane IS, Kong SW.

Cell Syst. 2017 Aug 23;5(2):140-148.e2. doi: 10.1016/j.cels.2017.06.016. Epub 2017 Aug 16.

21.

A 21st-Century Health IT System - Creating a Real-World Information Economy.

Mandl KD, Kohane IS.

N Engl J Med. 2017 May 18;376(20):1905-1907. doi: 10.1056/NEJMp1700235. No abstract available.

PMID:
28514623
22.

Combining clinical and genomics queries using i2b2 - Three methods.

Murphy SN, Avillach P, Bellazzi R, Phillips L, Gabetta M, Eran A, McDuffie MT, Kohane IS.

PLoS One. 2017 Apr 7;12(4):e0172187. doi: 10.1371/journal.pone.0172187. eCollection 2017.

23.

Predictive Modeling of Physician-Patient Dynamics That Influence Sleep Medication Prescriptions and Clinical Decision-Making.

Beam AL, Kartoun U, Pai JK, Chatterjee AK, Fitzgerald TP, Shaw SY, Kohane IS.

Sci Rep. 2017 Feb 9;7:42282. doi: 10.1038/srep42282.

24.

METHODS TO ENHANCE THE REPRODUCIBILITY OF PRECISION MEDICINE.

Manrai AK, Patel CJ, Gehlenborg N, Tatonetti NP, Ioannidis JP, Kohane IS.

Pac Symp Biocomput. 2016;21:180-182. No abstract available.

25.

Translating Artificial Intelligence Into Clinical Care.

Beam AL, Kohane IS.

JAMA. 2016 Dec 13;316(22):2368-2369. doi: 10.1001/jama.2016.17217. No abstract available.

PMID:
27898974
26.
27.

A database of human exposomes and phenomes from the US National Health and Nutrition Examination Survey.

Patel CJ, Pho N, McDuffie M, Easton-Marks J, Kothari C, Kohane IS, Avillach P.

Sci Data. 2016 Oct 25;3:160096. doi: 10.1038/sdata.2016.96.

28.

Suboptimal Clinical Documentation in Young Children with Severe Obesity at Tertiary Care Centers.

Brady CC, Thaker VV, Lingren T, Woo JG, Kennebeck SS, Namjou-Khales B, Roach A, Bickel JP, Patibandla N, Savova GK, Solti I, Holm IA, Harley JB, Kohane IS, Crimmins NA.

Int J Pediatr. 2016;2016:4068582. Epub 2016 Sep 6.

29.

Surrogate-assisted feature extraction for high-throughput phenotyping.

Yu S, Chakrabortty A, Liao KP, Cai T, Ananthakrishnan AN, Gainer VS, Churchill SE, Szolovits P, Murphy SN, Kohane IS, Cai T.

J Am Med Inform Assoc. 2017 Apr 1;24(e1):e143-e149. doi: 10.1093/jamia/ocw135.

30.

Temporal dynamics of the developing lung transcriptome in three common inbred strains of laboratory mice reveals multiple stages of postnatal alveolar development.

Beauchemin KJ, Wells JM, Kho AT, Philip VM, Kamir D, Kohane IS, Graber JH, Bult CJ.

PeerJ. 2016 Aug 9;4:e2318. doi: 10.7717/peerj.2318. eCollection 2016.

31.

Genetic Misdiagnoses and the Potential for Health Disparities.

Manrai AK, Funke BH, Rehm HL, Olesen MS, Maron BA, Szolovits P, Margulies DM, Loscalzo J, Kohane IS.

N Engl J Med. 2016 Aug 18;375(7):655-65. doi: 10.1056/NEJMsa1507092.

32.

Electronic Health Record Based Algorithm to Identify Patients with Autism Spectrum Disorder.

Lingren T, Chen P, Bochenek J, Doshi-Velez F, Manning-Courtney P, Bickel J, Wildenger Welchons L, Reinhold J, Bing N, Ni Y, Barbaresi W, Mentch F, Basford M, Denny J, Vazquez L, Perry C, Namjou B, Qiu H, Connolly J, Abrams D, Holm IA, Cobb BA, Lingren N, Solti I, Hakonarson H, Kohane IS, Harley J, Savova G.

PLoS One. 2016 Jul 29;11(7):e0159621. doi: 10.1371/journal.pone.0159621. eCollection 2016.

33.

Developing an Algorithm to Detect Early Childhood Obesity in Two Tertiary Pediatric Medical Centers.

Lingren T, Thaker V, Brady C, Namjou B, Kennebeck S, Bickel J, Patibandla N, Ni Y, Van Driest SL, Chen L, Roach A, Cobb B, Kirby J, Denny J, Bailey-Davis L, Williams MS, Marsolo K, Solti I, Holm IA, Harley J, Kohane IS, Savova G, Crimmins N.

Appl Clin Inform. 2016 Jul 20;7(3):693-706. doi: 10.4338/ACI-2016-01-RA-0015.

34.

Treating the enigmatic "exceptional responders" as patients with undiagnosed diseases.

Perakslis ED, Kohane IS.

Sci Transl Med. 2016 May 25;8(340):340ed8. doi: 10.1126/scitranslmed.aaf6146. No abstract available.

PMID:
27225181
35.

Systematic correlation of environmental exposure and physiological and self-reported behaviour factors with leukocyte telomere length.

Patel CJ, Manrai AK, Corona E, Kohane IS.

Int J Epidemiol. 2017 Feb 1;46(1):44-56. doi: 10.1093/ije/dyw043.

36.

SMART precision cancer medicine: a FHIR-based app to provide genomic information at the point of care.

Warner JL, Rioth MJ, Mandl KD, Mandel JC, Kreda DA, Kohane IS, Carbone D, Oreto R, Wang L, Zhu S, Yao H, Alterovitz G.

J Am Med Inform Assoc. 2016 Jul;23(4):701-10. doi: 10.1093/jamia/ocw015. Epub 2016 Mar 27.

37.

Clinical Genomics: From Pathogenicity Claims to Quantitative Risk Estimates.

Manrai AK, Ioannidis JP, Kohane IS.

JAMA. 2016 Mar 22-29;315(12):1233-4. doi: 10.1001/jama.2016.1519. No abstract available.

PMID:
26925924
38.

SMART on FHIR: a standards-based, interoperable apps platform for electronic health records.

Mandel JC, Kreda DA, Mandl KD, Kohane IS, Ramoni RB.

J Am Med Inform Assoc. 2016 Sep;23(5):899-908. doi: 10.1093/jamia/ocv189. Epub 2016 Feb 17.

39.

ksRepo: a generalized platform for computational drug repositioning.

Brown AS, Kong SW, Kohane IS, Patel CJ.

BMC Bioinformatics. 2016 Feb 9;17:78. doi: 10.1186/s12859-016-0931-y.

40.

Time for a Patient-Driven Health Information Economy?

Mandl KD, Kohane IS.

N Engl J Med. 2016 Jan 21;374(3):205-8. doi: 10.1056/NEJMp1512142. No abstract available.

41.

REPRODUCIBLE AND SHAREABLE QUANTIFICATIONS OF PATHOGENICITY.

Manrai AK, Wang BL, Patel CJ, Kohane IS.

Pac Symp Biocomput. 2016;21:231-42.

42.

Absence of evidence for increase in risk for autism or attention-deficit hyperactivity disorder following antidepressant exposure during pregnancy: a replication study.

Castro VM, Kong SW, Clements CC, Brady R, Kaimal AJ, Doyle AE, Robinson EB, Churchill SE, Kohane IS, Perlis RH.

Transl Psychiatry. 2016 Jan 5;6:e708. doi: 10.1038/tp.2015.190.

43.

Gene expression analysis in Fmr1KO mice identifies an immunological signature in brain tissue and mGluR5-related signaling in primary neuronal cultures.

Prilutsky D, Kho AT, Palmer NP, Bhakar AL, Smedemark-Margulies N, Kong SW, Margulies DM, Bear MF, Kohane IS.

Mol Autism. 2015 Dec 21;6:66. doi: 10.1186/s13229-015-0061-9. eCollection 2015.

44.

Practical considerations in genomic decision support: The eMERGE experience.

Herr TM, Bielinski SJ, Bottinger E, Brautbar A, Brilliant M, Chute CG, Cobb BL, Denny JC, Hakonarson H, Hartzler AL, Hripcsak G, Kannry J, Kohane IS, Kullo IJ, Lin S, Manzi S, Marsolo K, Overby CL, Pathak J, Peissig P, Pulley J, Ralston J, Rasmussen L, Roden DM, Tromp G, Uphoff T, Weng C, Wolf W, Williams MS, Starren J.

J Pathol Inform. 2015 Sep 28;6:50. doi: 10.4103/2153-3539.165999. eCollection 2015.

45.

A conceptual model for translating omic data into clinical action.

Herr TM, Bielinski SJ, Bottinger E, Brautbar A, Brilliant M, Chute CG, Denny J, Freimuth RR, Hartzler A, Kannry J, Kohane IS, Kullo IJ, Lin S, Pathak J, Peissig P, Pulley J, Ralston J, Rasmussen L, Roden D, Tromp G, Williams MS, Starren J.

J Pathol Inform. 2015 Aug 31;6:46. doi: 10.4103/2153-3539.163985. eCollection 2015.

46.

Driving Innovation in Health Systems through an Apps-Based Information Economy.

Mandl KD, Mandel JC, Kohane IS.

Cell Syst. 2015 Jul;1(1):8-13.

47.

Sentiment Measured in Hospital Discharge Notes Is Associated with Readmission and Mortality Risk: An Electronic Health Record Study.

McCoy TH, Castro VM, Cagan A, Roberson AM, Kohane IS, Perlis RH.

PLoS One. 2015 Aug 24;10(8):e0136341. doi: 10.1371/journal.pone.0136341. eCollection 2015.

48.

SMART on FHIR Genomics: facilitating standardized clinico-genomic apps.

Alterovitz G, Warner J, Zhang P, Chen Y, Ullman-Cullere M, Kreda D, Kohane IS.

J Am Med Inform Assoc. 2015 Nov;22(6):1173-8. doi: 10.1093/jamia/ocv045. Epub 2015 Jul 21.

PMID:
26198304
49.

HEALTH CARE POLICY. Ten things we have to do to achieve precision medicine.

Kohane IS.

Science. 2015 Jul 3;349(6243):37-8. doi: 10.1126/science.aab1328. Epub 2015 Jul 2. No abstract available.

PMID:
26138968
50.

Toward high-throughput phenotyping: unbiased automated feature extraction and selection from knowledge sources.

Yu S, Liao KP, Shaw SY, Gainer VS, Churchill SE, Szolovits P, Murphy SN, Kohane IS, Cai T.

J Am Med Inform Assoc. 2015 Sep;22(5):993-1000. doi: 10.1093/jamia/ocv034. Epub 2015 Apr 29.

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