Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 50 of 403


The phenotypical implications of immune dysregulation in fragile X syndrome.

Yu KH, Palmer N, Fox K, Prock L, Mandl KD, Kohane IS, Prilutsky D.

Eur J Neurol. 2020 Mar;27(3):590-593. doi: 10.1111/ene.14146. Epub 2020 Jan 17.


Big Data in the Assessment of Pediatric Medication Safety.

McMahon AW, Cooper WO, Brown JS, Carleton B, Doshi-Velez F, Kohane I, Goldman JL, Hoffman MA, Kamaleswaran R, Sakiyama M, Sekine S, Sturkenboom MCJM, Turner MA, Califf RM.

Pediatrics. 2020 Feb;145(2). pii: e20190562. doi: 10.1542/peds.2019-0562. Epub 2020 Jan 14.


Meta-analysis of C. elegans single-cell developmental data reveals multi-frequency oscillation in gene activation.

Hutchison L, Berger B, Kohane I.

Bioinformatics. 2019 Dec 20. pii: btz864. doi: 10.1093/bioinformatics/btz864. [Epub ahead of print]


Clinical Concept Embeddings Learned from Massive Sources of Multimodal Medical Data.

Beam AL, Kompa B, Schmaltz A, Fried I, Weber G, Palmer N, Shi X, Cai T, Kohane IS.

Pac Symp Biocomput. 2020;25:295-306.


High-throughput phenotyping with electronic medical record data using a common semi-supervised approach (PheCAP).

Zhang Y, Cai T, Yu S, Cho K, Hong C, Sun J, Huang J, Ho YL, Ananthakrishnan AN, Xia Z, Shaw SY, Gainer V, Castro V, Link N, Honerlaw J, Huang S, Gagnon D, Karlson EW, Plenge RM, Szolovits P, Savova G, Churchill S, O'Donnell C, Murphy SN, Gaziano JM, Kohane I, Cai T, Liao KP.

Nat Protoc. 2019 Dec;14(12):3426-3444. doi: 10.1038/s41596-019-0227-6. Epub 2019 Nov 20.


Making the 'invisible' visible: transforming the detection of intimate partner violence.

Khurana B, Seltzer SE, Kohane IS, Boland GW.

BMJ Qual Saf. 2019 Nov 20. pii: bmjqs-2019-009905. doi: 10.1136/bmjqs-2019-009905. [Epub ahead of print] Review. No abstract available.


Automated grouping of medical codes via multiview banded spectral clustering.

Zhang L, Zhang Y, Cai T, Ahuja Y, He Z, Ho YL, Beam A, Cho K, Carroll R, Denny J, Kohane I, Liao K, Cai T.

J Biomed Inform. 2019 Dec;100:103322. doi: 10.1016/j.jbi.2019.103322. Epub 2019 Oct 28.


Concordance between gene expression in peripheral whole blood and colonic tissue in children with inflammatory bowel disease.

Palmer NP, Silvester JA, Lee JJ, Beam AL, Fried I, Valtchinov VI, Rahimov F, Kong SW, Ghodoussipour S, Hood HC, Bousvaros A, Grand RJ, Kunkel LM, Kohane IS.

PLoS One. 2019 Oct 16;14(10):e0222952. doi: 10.1371/journal.pone.0222952. eCollection 2019.


High-throughput multimodal automated phenotyping (MAP) with application to PheWAS.

Liao KP, Sun J, Cai TA, Link N, Hong C, Huang J, Huffman JE, Gronsbell J, Zhang Y, Ho YL, Castro V, Gainer V, Murphy SN, O'Donnell CJ, Gaziano JM, Cho K, Szolovits P, Kohane IS, Yu S, Cai T.

J Am Med Inform Assoc. 2019 Nov 1;26(11):1255-1262. doi: 10.1093/jamia/ocz066.


Donald A. B. Lindberg (1933-2019).

Kohane I, Berg JM.

Science. 2019 Oct 4;366(6461):37. doi: 10.1126/science.aaz3644. No abstract available.


Examining the Use of Real-World Evidence in the Regulatory Process.

Beaulieu-Jones BK, Finlayson SG, Yuan W, Altman RB, Kohane IS, Prasad V, Yu KH.

Clin Pharmacol Ther. 2019 Sep 28. doi: 10.1002/cpt.1658. [Epub ahead of print] Review.


A fast divide-and-conquer sparse Cox regression.

Wang Y, Hong C, Palmer N, Di Q, Schwartz J, Kohane I, Cai T.

Biostatistics. 2019 Sep 23. pii: kxz036. doi: 10.1093/biostatistics/kxz036. [Epub ahead of print]


Aberrant mitochondrial function in patient-derived neural cells from CDKL5 deficiency disorder and Rett syndrome.

Jagtap S, Thanos JM, Fu T, Wang J, Lalonde J, Dial TO, Feiglin A, Chen J, Kohane I, Lee JT, Sheridan SD, Perlis RH.

Hum Mol Genet. 2019 Nov 1;28(21):3625-3636. doi: 10.1093/hmg/ddz208.


Use of Narrative Concepts in Electronic Health Records to Validate Associations Between Genetic Factors and Response to Treatment of Inflammatory Bowel Diseases.

Ananthakrishnan AN, Cagan A, Cai T, Gainer VS, Savova G, Shaw SY, Churchill S, Burke KE, Karlson EW, Murphy SN, Kohane I, Liao KP, Xavier RJ.

Clin Gastroenterol Hepatol. 2019 Aug 9. pii: S1542-3565(19)30861-4. doi: 10.1016/j.cgh.2019.08.005. [Epub ahead of print]


Autoimmune Effects of Lung Cancer Immunotherapy Revealed by Data-Driven Analysis on a Nationwide Cohort.

Yang S, Yu KH, Palmer N, Fox K, Kou SC, Kohane IS.

Clin Pharmacol Ther. 2020 Feb;107(2):388-396. doi: 10.1002/cpt.1597. Epub 2019 Oct 11.


Machine Learning in Medicine. Reply.

Rajkomar A, Dean J, Kohane I.

N Engl J Med. 2019 Jun 27;380(26):2589-2590. doi: 10.1056/NEJMc1906060. No abstract available.


Suicide Rates Among Adolescents and Young Adults in the United States, 2000-2017.

Miron O, Yu KH, Wilf-Miron R, Kohane IS.

JAMA. 2019 Jun 18;321(23):2362-2364. doi: 10.1001/jama.2019.5054. No abstract available.


Batch correction evaluation framework using a-priori gene-gene associations: applied to the GTEx dataset.

Somekh J, Shen-Orr SS, Kohane IS.

BMC Bioinformatics. 2019 May 28;20(1):268. doi: 10.1186/s12859-019-2855-9.


Beyond multidrug resistance: Leveraging rare variants with machine and statistical learning models in Mycobacterium tuberculosis resistance prediction.

Chen ML, Doddi A, Royer J, Freschi L, Schito M, Ezewudo M, Kohane IS, Beam A, Farhat M.

EBioMedicine. 2019 May;43:356-369. doi: 10.1016/j.ebiom.2019.04.016. Epub 2019 Apr 29.


Evaluation of the association of bariatric surgery with subsequent depression.

Yuan W, Yu KH, Palmer N, Stanford FC, Kohane I.

Int J Obes (Lond). 2019 Dec;43(12):2528-2535. doi: 10.1038/s41366-019-0364-6. Epub 2019 Apr 30.


Artificial intelligence in healthcare.

Yu KH, Beam AL, Kohane IS.

Nat Biomed Eng. 2018 Oct;2(10):719-731. doi: 10.1038/s41551-018-0305-z. Epub 2018 Oct 10. Review.


Deep Learning Benchmarks on L1000 Gene Expression Data.

McDermott M, Wang J, Zhao WN, Sheridan SD, Szolovits P, Kohane I, Haggarty SJ, Perlis RH.

IEEE/ACM Trans Comput Biol Bioinform. 2019 Apr 11. doi: 10.1109/TCBB.2019.2910061. [Epub ahead of print]


Machine Learning in Medicine.

Rajkomar A, Dean J, Kohane I.

N Engl J Med. 2019 Apr 4;380(14):1347-1358. doi: 10.1056/NEJMra1814259. Review. No abstract available.


Adversarial attacks on medical machine learning.

Finlayson SG, Bowers JD, Ito J, Zittrain JL, Beam AL, Kohane IS.

Science. 2019 Mar 22;363(6433):1287-1289. doi: 10.1126/science.aaw4399. No abstract available.


Pre-existing autoimmune disease and the risk of immune-related adverse events among patients receiving checkpoint inhibitors for cancer.

Kehl KL, Yang S, Awad MM, Palmer N, Kohane IS, Schrag D.

Cancer Immunol Immunother. 2019 Jun;68(6):917-926. doi: 10.1007/s00262-019-02321-z. Epub 2019 Mar 15.


Systemic nature of spinal muscular atrophy revealed by studying insurance claims.

Lipnick SL, Agniel DM, Aggarwal R, Makhortova NR, Finlayson SG, Brocato A, Palmer N, Darras BT, Kohane I, Rubin LL.

PLoS One. 2019 Mar 14;14(3):e0213680. doi: 10.1371/journal.pone.0213680. eCollection 2019.


Feature extraction for phenotyping from semantic and knowledge resources.

Ning W, Chan S, Beam A, Yu M, Geva A, Liao K, Mullen M, Mandl KD, Kohane I, Cai T, Yu S.

J Biomed Inform. 2019 Mar;91:103122. doi: 10.1016/j.jbi.2019.103122. Epub 2019 Feb 7.


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.


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.


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.


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.


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.


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 Dec 7;17(12):4345-4357. doi: 10.1021/acs.jproteome.8b00378. Epub 2018 Aug 21.


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.


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.


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.


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.


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. Review.


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.


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.


Postsurgical prescriptions for opioid naive patients and association with overdose and misuse: retrospective cohort study.

Brat GA, Agniel D, Beam A, Yorkgitis B, Bicket M, Homer M, Fox KP, Knecht DB, McMahill-Walraven CN, Palmer N, Kohane I.

BMJ. 2018 Jan 17;360:j5790. doi: 10.1136/bmj.j5790.


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.


Challenges and recommendations for epigenomics in precision health.

Carter AC, Chang HY, Church G, Dombkowski A, Ecker JR, Gil E, Giresi PG, Greely H, Greenleaf WJ, Hacohen N, He C, Hill D, Ko J, Kohane I, Kundaje A, Palmer M, Snyder MP, Tung J, Urban A, Vidal M, Wong W.

Nat Biotechnol. 2017 Dec 8;35(12):1128-1132. doi: 10.1038/nbt.4030. No abstract available.


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.


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.


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.


Association of Sex With Recurrence of Autism Spectrum Disorder Among Siblings.

Palmer N, Beam A, Agniel D, Eran A, Manrai A, Spettell C, Steinberg G, Mandl K, Fox K, Nelson SF, Kohane I.

JAMA Pediatr. 2017 Nov 1;171(11):1107-1112. doi: 10.1001/jamapediatrics.2017.2832.


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.

Supplemental Content

Loading ...
Support Center