This paper is in the following e-collection/theme issue:

Ontologies, Classifications, and Coding (227) Electronic Health Records (971)

Published on in Vol 7, No 4 (2019): Oct-Dec

Preprints (earlier versions) of this paper are available at https://preprints.jmir.org/preprint/14325, first published .
Mapping ICD-10 and ICD-10-CM Codes to Phecodes: Workflow Development and Initial Evaluation

Mapping ICD-10 and ICD-10-CM Codes to Phecodes: Workflow Development and Initial Evaluation

Mapping ICD-10 and ICD-10-CM Codes to Phecodes: Workflow Development and Initial Evaluation

Authors of this article:

Patrick Wu1, 2 Author Orcid Image ;   Aliya Gifford1 Author Orcid Image ;   Xiangrui Meng3 Author Orcid Image ;   Xue Li3 Author Orcid Image ;   Harry Campbell3 Author Orcid Image ;   Tim Varley4 Author Orcid Image ;   Juan Zhao1 Author Orcid Image ;   Robert Carroll1 Author Orcid Image ;   Lisa Bastarache1 Author Orcid Image ;   Joshua C Denny1, 5 Author Orcid Image ;   Evropi Theodoratou3, 6 Author Orcid Image ;   Wei-Qi Wei7 Author Orcid Image
Article Authors Cited by (226) Tweetations (3) Metrics

Journals

  1. Bi W, Fritsche L, Mukherjee B, Kim S, Lee S. A Fast and Accurate Method for Genome-Wide Time-to-Event Data Analysis and Its Application to UK Biobank. The American Journal of Human Genetics 2020;107(2):222 View
  2. Zhou W, Brumpton B, Kabil O, Gudmundsson J, Thorleifsson G, Weinstock J, Zawistowski M, Nielsen J, Chaker L, Medici M, Teumer A, Naitza S, Sanna S, Schultheiss U, Cappola A, Karjalainen J, Kurki M, Oneka M, Taylor P, Fritsche L, Graham S, Wolford B, Overton W, Rasheed H, Haug E, Gabrielsen M, Skogholt A, Surakka I, Davey Smith G, Pandit A, Roychowdhury T, Hornsby W, Jonasson J, Senter L, Liyanarachchi S, Ringel M, Xu L, Kiemeney L, He H, Netea-Maier R, Mayordomo J, Plantinga T, Hrafnkelsson J, Hjartarson H, Sturgis E, Palotie A, Daly M, Citterio C, Arvan P, Brummett C, Boehnke M, de la Chapelle A, Stefansson K, Hveem K, Willer C, Åsvold B. GWAS of thyroid stimulating hormone highlights pleiotropic effects and inverse association with thyroid cancer. Nature Communications 2020;11(1) View
  3. Kember R, Merikangas A, Verma S, Verma A, Judy R, Damrauer S, Ritchie M, Rader D, Bućan M, Abecasis G, Baras A, Cantor M, Coppola G, Economides A, Lotta L, Overton J, Reid J, Shuldiner A, Beechert C, Forsythe C, Fuller E, Gu Z, Lattari M, Lopez A, Schleicher T, Padilla M, Toledo K, Widom L, Wolf S, Pradhan M, Manoochehri K, Ulloa R, Bai X, Balasubramanian S, Barnard L, Blumenfeld A, Eom G, Habegger L, Hahn Y, Hawes A, Khalid S, Maxwell E, Salerno W, Staples J, Yadav A, Jones M, Mitnaul L. Polygenic Risk of Psychiatric Disorders Exhibits Cross-trait Associations in Electronic Health Record Data From European Ancestry Individuals. Biological Psychiatry 2021;89(3):236 View
  4. Pirruccello J, Bick A, Wang M, Chaffin M, Friedman S, Yao J, Guo X, Venkatesh B, Taylor K, Post W, Rich S, Lima J, Rotter J, Philippakis A, Lubitz S, Ellinor P, Khera A, Kathiresan S, Aragam K. Analysis of cardiac magnetic resonance imaging in 36,000 individuals yields genetic insights into dilated cardiomyopathy. Nature Communications 2020;11(1) View
  5. Ahuja Y, Zhou D, He Z, Sun J, Castro V, Gainer V, Murphy S, Hong C, Cai T. sureLDA: A multidisease automated phenotyping method for the electronic health record. Journal of the American Medical Informatics Association 2020;27(8):1235 View
  6. King C, Mulugeta A, Nabi F, Walton R, Zhou A, Hyppönen E. Mendelian randomization case-control PheWAS in UK Biobank shows evidence of causality for smoking intensity in 28 distinct clinical conditions. EClinicalMedicine 2020;26:100488 View
  7. Joo Y, Actkins K, Pacheco J, Basile A, Carroll R, Crosslin D, Day F, Denny J, Velez Edwards D, Hakonarson H, Harley J, Hebbring S, Ho K, Jarvik G, Jones M, Karaderi T, Mentch F, Meun C, Namjou B, Pendergrass S, Ritchie M, Stanaway I, Urbanek M, Walunas T, Smith M, Chisholm R, Kho A, Davis L, Hayes M, Jones M, He C, Drong A, Kraft P, Lin N, Huang H, Broer L, Magi R, Saxena R, Laisk-Podar T, Thorleifsson G, Fernandez-Tajes J, Mahajan A, Mullin B, Stuckey B, Spector T, Wilson S, Goodarzi M, Obermeyer-Pietsch B, Uitterlinden A, Anttila V, Neale B, Jarvelin M, Fauser B, Kowalska I, Visser J, Anderson M, Ong K, Stener-Victorin E, Ehrmann D, Legro R, Salumets A, McCarthy M, Morin-Papunen L, Thorsteinsdottir U, Stefansson K, Styrkarsdottir U, Perry J, Dunaif A, Laven J, Franks S, Lindgren C, Welt C. A Polygenic and Phenotypic Risk Prediction for Polycystic Ovary Syndrome Evaluated by Phenome-Wide Association Studies. The Journal of Clinical Endocrinology & Metabolism 2020;105(6):1918 View
  8. Safarova M, Kullo I. Using the electronic health record for genomics research. Current Opinion in Lipidology 2020;31(2):85 View
  9. Pulley J, Jerome R, Bernard G, Shirey-Rice J, Xu Y, Wilkins C. The Astounding Breadth of Health Disparity: Phenome-Wide Effects of Race on Disease Risk. Journal of the National Medical Association 2021;113(2):187 View
  10. Wu P, Nelson S, Zhao J, Stone Jr C, Feng Q, Chen Q, Larson E, Li B, Cox N, Stein C, Phillips E, Roden D, Denny J, Wei W. DDIWAS: High-throughput electronic health record-based screening of drug-drug interactions. Journal of the American Medical Informatics Association 2021;28(7):1421 View
  11. Scalsky R, Chen Y, Desai K, O’Connell J, Perry J, Hong C, Calabresi L. Baseline cardiometabolic profiles and SARS-CoV-2 infection in the UK Biobank. PLOS ONE 2021;16(4):e0248602 View
  12. Zhou J, Liu C, Sun Y, Francis M, Ryu M, Grider A, Ye K. Genetically predicted circulating levels of copper and zinc are associated with osteoarthritis but not with rheumatoid arthritis. Osteoarthritis and Cartilage 2021;29(7):1029 View
  13. Hägg S, Jylhävä J, Wang Y, Czene K, Grassmann F. Deciphering the genetic and epidemiological landscape of mitochondrial DNA abundance. Human Genetics 2021;140(6):849 View
  14. Gilly A, Park Y, Png G, Barysenka A, Fischer I, Bjørnland T, Southam L, Suveges D, Neumeyer S, Rayner N, Tsafantakis E, Karaleftheri M, Dedoussis G, Zeggini E. Whole-genome sequencing analysis of the cardiometabolic proteome. Nature Communications 2020;11(1) View
  15. Takahashi P, Ryu E, Bielinski S, Hathcock M, Jenkins G, Cerhan J, Olson J. No Association Between Pharmacogenomics Variants and Hospital and Emergency Department Utilization: A Mayo Clinic Biobank Retrospective Study. Pharmacogenomics and Personalized Medicine 2021;Volume 14:229 View
  16. Belbin G, Cullina S, Wenric S, Soper E, Glicksberg B, Torre D, Moscati A, Wojcik G, Shemirani R, Beckmann N, Cohain A, Sorokin E, Park D, Ambite J, Ellis S, Auton A, Bottinger E, Cho J, Loos R, Abul-Husn N, Zaitlen N, Gignoux C, Kenny E. Toward a fine-scale population health monitoring system. Cell 2021;184(8):2068 View
  17. Zhou J, Liu C, Sun Y, Huang W, Ye K. Cognitive disorders associated with hospitalization of COVID-19: Results from an observational cohort study. Brain, Behavior, and Immunity 2021;91:383 View
  18. Geva A, Liu M, Panickan V, Avillach P, Cai T, Mandl K. A high-throughput phenotyping algorithm is portable from adult to pediatric populations. Journal of the American Medical Informatics Association 2021;28(6):1265 View
  19. Ehsan Z, Glynn E, Hoffman M, Ingram D, Al-Shawwa B. Small sleepers, big data: leveraging big data to explore sleep-disordered breathing in infants and young children. Sleep 2021;44(2) View
  20. Zhou J, Liu C, Francis M, Sun Y, Ryu M, Grider A, Ye K. The Causal Effects of Blood Iron and Copper on Lipid Metabolism Diseases: Evidence from Phenome-Wide Mendelian Randomization Study. Nutrients 2020;12(10):3174 View
  21. Weeks W, Huynh G, Cao S, Smith J, Bangur C, Weinstein J. Examining the Prevalence of Previously Recorded Phenotypically Related Diagnoses Among Fee-for-Service Medicare Enrollees Newly Diagnosed with Mendelian Conditions. Journal of General Internal Medicine 2022;37(2):475 View
  22. Mohammadi-Shemirani P, Chong M, Pigeyre M, Morton R, Gerstein H, Paré G. Effects of lifelong testosterone exposure on health and disease using Mendelian randomization. eLife 2020;9 View
  23. Martucci V, Richmond B, Davis L, Blackwell T, Cox N, Samuels D, Velez Edwards D, Aldrich M. Fate or coincidence: do COPD and major depression share genetic risk factors?. Human Molecular Genetics 2021;30(7):619 View
  24. Zheng N, Warner J, Osterman T, Wells Q, Shu X, Deppen S, Karp S, Dwyer S, Feng Q, Cox N, Peterson J, Stein C, Roden D, Johnson K, Wei W. A retrospective approach to evaluating potential adverse outcomes associated with delay of procedures for cardiovascular and cancer-related diagnoses in the context of COVID-19. Journal of Biomedical Informatics 2021;113:103657 View
  25. Zhou J, Sun Y, Huang W, Ye K, Newman A. Altered Blood Cell Traits Underlie a Major Genetic Locus of Severe COVID-19. The Journals of Gerontology: Series A 2021;76(8):e147 View
  26. Nielsen J, Rom O, Surakka I, Graham S, Zhou W, Roychowdhury T, Fritsche L, Gagliano Taliun S, Sidore C, Liu Y, Gabrielsen M, Skogholt A, Wolford B, Overton W, Zhao Y, Chen J, Zhang H, Hornsby W, Acheampong A, Grooms A, Schaefer A, Zajac G, Villacorta L, Zhang J, Brumpton B, Løset M, Rai V, Lundegaard P, Olesen M, Taylor K, Palmer N, Chen Y, Choi S, Lubitz S, Ellinor P, Barnes K, Daya M, Rafaels N, Weiss S, Lasky-Su J, Tracy R, Vasan R, Cupples L, Mathias R, Yanek L, Becker L, Peyser P, Bielak L, Smith J, Aslibekyan S, Hidalgo B, Arnett D, Irvin M, Wilson J, Musani S, Correa A, Rich S, Guo X, Rotter J, Konkle B, Johnsen J, Ashley-Koch A, Telen M, Sheehan V, Blangero J, Curran J, Peralta J, Montgomery C, Sheu W, Chung R, Schwander K, Nouraie S, Gordeuk V, Zhang Y, Kooperberg C, Reiner A, Jackson R, Bleecker E, Meyers D, Li X, Das S, Yu K, LeFaive J, Smith A, Blackwell T, Taliun D, Zollner S, Forer L, Schoenherr S, Fuchsberger C, Pandit A, Zawistowski M, Kheterpal S, Brummett C, Natarajan P, Schlessinger D, Lee S, Kang H, Cucca F, Holmen O, Åsvold B, Boehnke M, Kathiresan S, Abecasis G, Chen Y, Willer C, Hveem K. Loss-of-function genomic variants highlight potential therapeutic targets for cardiovascular disease. Nature Communications 2020;11(1) View
  27. Vy H, Jordan D, Balick D, Do R, Cooper G. Probing the aggregated effects of purifying selection per individual on 1,380 medical phenotypes in the UK Biobank. PLOS Genetics 2021;17(1):e1009337 View
  28. Tahira A, Verjovski‐Almeida S, Ferreira S. Dementia is an age‐independent risk factor for severity and death in COVID‐19 inpatients. Alzheimer's & Dementia 2021;17(11):1818 View
  29. Kawai V, Shi M, Liu G, Feng Q, Wei W, Chung C, Walunas T, Gordon A, Linneman J, Hebbring S, Harley J, Cox N, Roden D, Stein C, Mosley J. Pleiotropy of systemic lupus erythematosus risk alleles and cardiometabolic disorders: A phenome-wide association study and inverse-variance weighted meta-analysis. Lupus 2021;30(8):1264 View
  30. Kim S, Hudgins A, Gonzalez B, Milman S, Barzilai N, Vijg J, Tu Z, Suh Y. A Compendium of Age-Related PheWAS and GWAS Traits for Human Genetic Association Studies, Their Networks and Genetic Correlations. Frontiers in Genetics 2021;12 View
  31. Liu G, Shi M, Mosley J, Weng C, Zhang Y, Lee M, Jarvik G, Hakonarson H, Namjou-Khales B, Sleiman P, Luo Y, Mentch F, Denny J, Linton M, Wei W, Stein C, Feng Q. A Mendelian Randomization Approach Using 3-HMG-Coenzyme-A Reductase Gene Variation to Evaluate the Association of Statin-Induced Low-Density Lipoprotein Cholesterol Lowering With Noncardiovascular Disease Phenotypes. JAMA Network Open 2021;4(6):e2112820 View
  32. Zekavat S, Lin S, Bick A, Liu A, Paruchuri K, Wang C, Uddin M, Ye Y, Yu Z, Liu X, Kamatani Y, Bhattacharya R, Pirruccello J, Pampana A, Loh P, Kohli P, McCarroll S, Kiryluk K, Neale B, Ionita-Laza I, Engels E, Brown D, Smoller J, Green R, Karlson E, Lebo M, Ellinor P, Weiss S, Daly M, Koyama S, Ito K, Momozawa Y, Matsuda K, Yamanashi Y, Furukawa Y, Morisaki T, Murakami Y, Muto K, Nagai A, Obara W, Yamaji K, Takahashi K, Asai S, Takahashi Y, Suzuki T, Sinozaki N, Yamaguchi H, Minami S, Murayama S, Yoshimori K, Nagayama S, Obata D, Higashiyama M, Masumoto A, Koretsune Y, Palotie A, Ziemann A, Mitchell A, Huertas-Vazquez A, Salminen A, Jussila A, Havulinna A, Mackay A, Abbasi A, Elliott A, Cole A, Shcherban A, Mälarstig A, Ganna A, Loboda A, Podgornaia A, Lehtonen A, Pitkäranta A, Remes A, Auranen A, Hakanen A, Palomäki A, Jalanko A, Loukola A, Chhibber A, Lertratanakul A, Lehisto A, Mannermaa A, Hedman Å, Chu A, Madar A, Ghazal A, Challis B, Sun B, Cummings B, Riley-Gillis B, Fox C, Chen C, Wang C, Chatelain C, Gordin D, Quarless D, Oh D, Choy D, Close D, Pulford D, Rice D, Waterworth D, Rajpal D, Baird D, Jambulingam D, Chang D, Kulkarni D, Paul D, Liu D, Teng E, Punkka E, Ekholm E, Kangasniemi E, Laakkonen E, Wigmore E, Järvensivu E, Kilpeläinen E, Widen E, Tsai E, Mohammed E, Strauss E, Kvikstad E, Pitkänen E, Kaiharju E, Xu E, Xu F, Rahimov F, Vaura F, Auge F, Brein G, Lassi G, Heap G, Laivuori H, Mattsson H, Uusitalo-Järvinen H, Kankaanranta H, Uusitalo H, Chen H, Siirtola H, Joensuu H, Runz H, Lehtonen H, Heyne H, Soininen H, Jacob H, Chen H, Shen H, Xu H, Vähätalo I, Kalliala I, Tachmazidou I, Kaprio J, Parkkinen J, Jacob J, Kumar J, van Adelsberg J, Laukkanen J, Ritari J, Garcia-Tabuenca J, Waring J, Schutzman J, Liu J, Lee J, Betts J, Rämö J, Huhtakangas J, Mäkelä J, Mattson J, Schleutker J, Kettunen J, Eicher J, Zierer J, Chung J, Turunen J, Gordillo J, Maranville J, Karjalainen J, Mehtonen J, Rinne J, Sinisalo J, Junttila J, Koskela J, Partanen J, Peltola J, Hunkapiller J, Pihlajamäki J, Wade J, Partanen J, Mäkikallio K, Kaarniranta K, Tasanen K, Metsärinne K, Pärn K, King K, Eklund K, Linden K, Nieminen K, Hannula-Jouppi K, Call K, Klinger K, Donner K, Hyvärinen K, Kristiansson K, Kivinen K, Kaukinen K, Pylkäs K, de Lange K, Usiskin K, Palin K, Shkura K, Auro K, Kalpala K, Sipilä K, Elenius K, Tsuo K, Lahtela L, Addis L, Huilaja L, Kotaniemi-Talonen L, Mustaniemi L, Pirilä L, Morin-Papunen L, Aaltonen L, Koulu L, Suominen L, Kallio L, McCarthy L, Aoxing L, Männikkö L, Obeidat M, Rivas M, Hautalahti M, Pelkonen M, Kaunisto M, Niemi M, Siponen M, Crohns M, Kalaoja M, Luodonpää M, Vääräsmäki M, Taskinen M, Tuppurainen M, McCarthy M, Laakso M, Laukkanen M, Voutilainen M, Juonala M, Perola M, Hochfeld M, Färkkilä M, Reeve M, Kanai M, Brauer M, Gossel M, Peura M, Ehm M, Miller M, Liu M, Aavikko M, Koskinen M, Helminen M, Kähönen M, Arvas M, Hiltunen M, Kiviniemi M, Caliskan M, Karjalainen M, Raivio M, Koivusalo M, Kurki M, Maasha M, Bing N, Bowers N, Raghavan N, Renaud N, Välimäki N, Hautala N, Mars N, Pitkänen N, Smaoui N, Kaipiainen-Seppänen O, Carpén O, Dada O, Soylemez O, Heikinheimo O, Tuovila O, Uimari O, Gormley P, Auvinen P, Laiho P, Mäntylä P, Polo P, Bronson P, Kauppi P, Karihtala P, Nieminen P, Tienari P, Virolainen P, Isomäki P, Della Briotta Parolo P, Pussinen P, Palta P, Pakkanen R, Serpi R, Mishra R, Hinttala R, Kälviäinen R, Wong R, Popovic R, Siegel R, Lahesmaa R, Kajanne R, Graham R, Plenge R, Yang R, Kallionpää R, Tian R, Miller R, Esmaeeli S, Kauppila S, John S, Heikkinen S, Koskelainen S, Wadhawan S, Pikkarainen S, Heron S, Ripatti S, Seitsonen S, Lahdenperä S, Ruotsalainen S, Pendergrass S, Smith S, Vuoti S, Hassan S, Biswas S, Luo S, Rüeger S, Lähteenmäki S, Peltonen S, Soini S, Petrovski S, Ghosh S, McDonough S, Loomis S, Greenberg S, Eaton S, Lemmelä S, Xia T, Laitinen T, Tukiainen T, Salmi T, Niiranen T, Paajanen T, Kuopio T, Kilpi T, Ollila T, Hiekkalinna T, Jyrhämä T, Harju T, Luukkaala T, Tuomi T, Behrens T, Lu T, Blomster T, Sipilä T, Southerington T, Mäkelä T, Kiiskinen T, Mantere T, Meretoja T, Bhangale T, Salo T, Sistonen T, Palotie U, Gursoy U, Kujala U, Julkunen V, Salomaa V, Kosma V, Rathinakannan V, Kurra V, Aaltonen V, Neduva V, Llorens V, Sinha V, Anttonen V, Zhou W, Fleuren W, Chen X, Hu X, Wu Y, Huang Y, Terao C, Zhao H, Ebert B, Reilly M, Machiela M, Genovese G, Natarajan P. Hematopoietic mosaic chromosomal alterations increase the risk for diverse types of infection. Nature Medicine 2021;27(6):1012 View
  33. Nagar S, Nápoles A, Jordan I, Mariño-Ramírez L. Socioeconomic deprivation and genetic ancestry interact to modify type 2 diabetes ethnic disparities in the United Kingdom. eClinicalMedicine 2021;37:100960 View
  34. Suri P, Stanaway I, Zhang Y, Freidin M, Tsepilov Y, Carrell D, Williams F, Aulchenko Y, Hakonarson H, Namjou B, Crosslin D, Jarvik G, Lee M. Genome-wide association studies of low back pain and lumbar spinal disorders using electronic health record data identify a locus associated with lumbar spinal stenosis. Pain 2021;162(8):2263 View
  35. Wang L, Zhang X, Meng X, Koskeridis F, Georgiou A, Yu L, Campbell H, Theodoratou E, Li X. Methodology in phenome-wide association studies: a systematic review. Journal of Medical Genetics 2021;58(11):720 View
  36. Bastarache L. Using Phecodes for Research with the Electronic Health Record: From PheWAS to PheRS. Annual Review of Biomedical Data Science 2021;4(1):1 View
  37. Grassmann F, Yang H, Eriksson M, Azam S, Hall P, Czene K. Mammographic features are associated with cardiometabolic disease risk and mortality. European Heart Journal 2021;42(34):3361 View
  38. Hariharan P, Dupuis J. Mapping gene and gene pathways associated with coronary artery disease: a CARDIoGRAM exome and multi-ancestry UK biobank analysis. Scientific Reports 2021;11(1) View
  39. Schiabor Barrett K, Bolze A, Ni Y, White S, Isaksson M, Sharma L, Levin E, Lee W, Grzymski J, Lu J, Washington N, Cirulli E. Positive predictive value highlights four novel candidates for actionable genetic screening from analysis of 220,000 clinicogenomic records. Genetics in Medicine 2021 View
  40. Zhou D, Gamazon E. Integrative transcriptomic, evolutionary, and causal inference framework for region-level analysis: Application to COVID-19. npj Genomic Medicine 2022;7(1) View
  41. Zekavat S, Viana-Huete V, Matesanz N, Jorshery S, Zuriaga M, Uddin M, Trinder M, Paruchuri K, Zorita V, Ferrer-Pérez A, Amorós-Pérez M, Kunderfranco P, Carriero R, Greco C, Aroca-Crevillen A, Hidalgo A, Damrauer S, Ballantyne C, Niroula A, Gibson C, Pirruccello J, Griffin G, Ebert B, Libby P, Fuster V, Zhao H, Ghassemi M, Natarajan P, Bick A, Fuster J, Klarin D. TP53-mediated clonal hematopoiesis confers increased risk for incident atherosclerotic disease. Nature Cardiovascular Research 2023;2(2):144 View
  42. Krebs K, Milani L. Harnessing the Power of Electronic Health Records and Genomics for Drug Discovery. Annual Review of Pharmacology and Toxicology 2023;63(1):65 View
  43. Mikhaylova A, McHugh C, Polfus L, Raffield L, Boorgula M, Blackwell T, Brody J, Broome J, Chami N, Chen M, Conomos M, Cox C, Curran J, Daya M, Ekunwe L, Glahn D, Heard-Costa N, Highland H, Hobbs B, Ilboudo Y, Jain D, Lange L, Miller-Fleming T, Min N, Moon J, Preuss M, Rosen J, Ryan K, Smith A, Sun Q, Surendran P, de Vries P, Walter K, Wang Z, Wheeler M, Yanek L, Zhong X, Abecasis G, Almasy L, Barnes K, Beaty T, Becker L, Blangero J, Boerwinkle E, Butterworth A, Chavan S, Cho M, Choquet H, Correa A, Cox N, DeMeo D, Faraday N, Fornage M, Gerszten R, Hou L, Johnson A, Jorgenson E, Kaplan R, Kooperberg C, Kundu K, Laurie C, Lettre G, Lewis J, Li B, Li Y, Lloyd-Jones D, Loos R, Manichaikul A, Meyers D, Mitchell B, Morrison A, Ngo D, Nickerson D, Nongmaithem S, North K, O’Connell J, Ortega V, Pankratz N, Perry J, Psaty B, Rich S, Soranzo N, Rotter J, Silverman E, Smith N, Tang H, Tracy R, Thornton T, Vasan R, Zein J, Mathias R, Reiner A, Auer P. Whole-genome sequencing in diverse subjects identifies genetic correlates of leukocyte traits: The NHLBI TOPMed program. The American Journal of Human Genetics 2021;108(10):1836 View
  44. Fritsche L, Jin W, Admon A, Mukherjee B. Characterizing and Predicting Post-Acute Sequelae of SARS CoV-2 Infection (PASC) in a Large Academic Medical Center in the US. Journal of Clinical Medicine 2023;12(4):1328 View
  45. Edwards S, Glynn E, Slogic M, Davis A, Killian H, Cocjin J, Attard T. Demographics of children with feeding difficulties from a large electronic health record database. Journal of Parenteral and Enteral Nutrition 2022;46(5):1022 View
  46. Yang L, Wang S, Altman R. POPDx: an automated framework for patient phenotyping across 392 246 individuals in the UK Biobank study. Journal of the American Medical Informatics Association 2023;30(2):245 View
  47. Auwerx C, Lepamets M, Sadler M, Patxot M, Stojanov M, Baud D, Mägi R, Porcu E, Reymond A, Kutalik Z, Esko T, Metspalu A, Milani L, Nelis M. The individual and global impact of copy-number variants on complex human traits. The American Journal of Human Genetics 2022;109(4):647 View
  48. Zeng C, Bastarache L, Tao R, Venner E, Hebbring S, Andujar J, Bland H, Crosslin D, Pratap S, Cooley A, Pacheco J, Christensen K, Perez E, Zawatsky C, Witkowski L, Zouk H, Weng C, Leppig K, Sleiman P, Hakonarson H, Williams M, Luo Y, Jarvik G, Green R, Chung W, Gharavi A, Lennon N, Rehm H, Gibbs R, Peterson J, Roden D, Wiesner G, Denny J. Association of Pathogenic Variants in Hereditary Cancer Genes With Multiple Diseases. JAMA Oncology 2022;8(6):835 View
  49. Zhang R, Sjölander A, Ploner A, Lu D, Bulik C, Bergen S. Novel disease associations with schizophrenia genetic risk revealed in ~400,000 UK Biobank participants. Molecular Psychiatry 2022;27(3):1448 View
  50. Dyas A, Zhuang Y, Meguid R, Henderson W, Madsen H, Bronsert M, Colborn K. Development and validation of a model for surveillance of postoperative bleeding complications using structured electronic health records data. Surgery 2022;172(6):1728 View
  51. Jeong E, Osmundson S, Gao C, Edwards D, Malin B, Chen Y. Learning the impact of acute and chronic diseases on forecasting neonatal encephalopathy. Computer Methods and Programs in Biomedicine 2021;211:106397 View
  52. Liu Z, Suo C, Jiang Y, Zhao R, Zhang T, Jin L, Chen X. Phenome-Wide Association Analysis Reveals Novel Links Between Genetically Determined Levels of Liver Enzymes and Disease Phenotypes. Phenomics 2022;2(5):295 View
  53. Chan I, Kwok M, Schooling C. Blood pressure and risk of cancer: a Mendelian randomization study. BMC Cancer 2021;21(1) View
  54. Tcheandjieu C, Xiao K, Tejeda H, Lynch J, Ruotsalainen S, Bellomo T, Palnati M, Judy R, Klarin D, Kember R, Verma S, Abecasis G, Baras A, Cantor M, Coppola G, Deubler A, Economides A, Karalis K, Lotta L, Overton J, Reid J, Siminovitch K, Shuldiner A, Beechert C, Forsythe C, Fuller E, Gu Z, Lattari M, Lopez A, Padilla M, Pradhan M, Manoochehri K, Schleicher T, Widom L, Wolf S, Ulloa R, Averitt A, Banerjee N, Li D, Malhotra S, Sharma D, Staples J, Bai X, Balasubramanian S, Bao S, Boutkov B, Chen S, Eom G, Habegger L, Hawes A, Khalid S, Krasheninina O, Lanche R, Mansfield A, Maxwell E, Mitra G, Nafde M, O’Keeffe S, Orelus M, Panea R, Polanco T, Rasool A, Salerno W, Sun K, Xin J, Backman J, Damask A, Dobbyn L, Ferreira M, Ghosh A, Gillies C, Gurski L, Jorgenson E, Kang H, Kessler M, Kosmicki J, Li A, Lin N, Liu D, Locke A, Marchini J, Marcketta A, Mbatchou J, Moscati A, Paulding C, Sidore C, Stahl E, Watanabe K, Ye B, Zhang B, Ziyatdinov A, Jones M, Mighty J, Mitnaul L, Palotie A, Daly M, Ritchie M, Rader D, Rivas M, Assimes T, Tsao P, Damrauer S, Priest J. High heritability of ascending aortic diameter and trans-ancestry prediction of thoracic aortic disease. Nature Genetics 2022;54(6):772 View
  55. Roberts E, Gu T, Wagner A, Mukherjee B, Fritsche L. Estimating COVID-19 Vaccination and Booster Effectiveness Using Electronic Health Records From an Academic Medical Center in Michigan. AJPM Focus 2022;1(1):100015 View
  56. Deaton A, Dubey A, Ward L, Dornbos P, Flannick J, Yee E, Ticau S, Noetzli L, Parker M, Hoffing R, Willis C, Plekan M, Holleman A, Hinkle G, Fitzgerald K, Vaishnaw A, Nioi P. Rare loss of function variants in the hepatokine gene INHBE protect from abdominal obesity. Nature Communications 2022;13(1) View
  57. Bolton K, Koh Y, Foote M, Im H, Jee J, Sun C, Safonov A, Ptashkin R, Moon J, Lee J, Jung J, Kang C, Song K, Choe P, Park W, Kim H, Oh M, Song H, Kim S, Patel M, Derkach A, Gedvilaite E, Tkachuk K, Wiley B, Chan I, Braunstein L, Gao T, Papaemmanuil E, Esther Babady N, Pessin M, Kamboj M, Diaz L, Ladanyi M, Rauh M, Natarajan P, Machiela M, Awadalla P, Joseph V, Offit K, Norton L, Berger M, Levine R, Kim E, Kim N, Zehir A. Clonal hematopoiesis is associated with risk of severe Covid-19. Nature Communications 2021;12(1) View
  58. McNew K, Abraham A, Sack D, Smart C, Pettway Y, Falk A, Lister R, Faucon A, Bejan C, Capra J, Aronoff D, Boyd K, Moore D. Vascular alterations impede fragile tolerance to pregnancy in type 1 diabetes. F&S Science 2022;3(2):148 View
  59. Feng Y, Stanaway I, Connolly J, Denny J, Luo Y, Weng C, Wei W, Weiss S, Karlson E, Smoller J. Psychiatric manifestations of rare variation in medically actionable genes: a PheWAS approach. BMC Genomics 2022;23(1) View
  60. Blair D, Hoffmann T, Shieh J. Common genetic variation associated with Mendelian disease severity revealed through cryptic phenotype analysis. Nature Communications 2022;13(1) View
  61. El Halabi J, Palmer N, Fox K, Kohane I, Farhat M. Fecal microbiota transplantation and Clostridioides difficile infection among privately insured patients in the United States. Journal of Gastroenterology 2022;57(1):10 View
  62. Fang Y, Fritsche L, Mukherjee B, Sen S, Richmond-Rakerd L. Polygenic Liability to Depression Is Associated With Multiple Medical Conditions in the Electronic Health Record: Phenome-wide Association Study of 46,782 Individuals. Biological Psychiatry 2022;92(12):923 View
  63. Dumancas G, Harrison D, Rico J, Zamora P, Liwag A, Villaruz J, Guanzon M, Ferraris H, Jalandoni P, Padernal W, Villareal B, Maculada R, Fernandez R, Villa F, de Castro R. Are phenome-wide association studies feasible in a developing country?. Trends in Genetics 2022;38(9):885 View
  64. Colborn K, Zhuang Y, Dyas A, Henderson W, Madsen H, Bronsert M, Matheny M, Lambert-Kerzner A, Myers Q, Meguid R. Development and validation of models for detection of postoperative infections using structured electronic health records data and machine learning. Surgery 2023;173(2):464 View
  65. Nam Y, Jung S, Yun J, Sriram V, Singhal P, Byrska-Bishop M, Verma A, Shin H, Park W, Won H, Kim D, Wren J. Discovering comorbid diseases using an inter-disease interactivity network based on biobank-scale PheWAS data. Bioinformatics 2023;39(1) View
  66. Robinson J, Carroll R, Bastarache L, Chen Q, Pirruccello J, Mou Z, Wei W, Connolly J, Mentch F, Crane P, Hebbring S, Crosslin D, Gordon A, Rosenthal E, Stanaway I, Hayes M, Wei W, Petukhova L, Namjou‐Khales B, Zhang G, Safarova M, Walton N, Still C, Bottinger E, Loos R, Murphy S, Jackson G, Abumrad N, Kullo I, Jarvik G, Larson E, Weng C, Roden D, Khera A, Denny J. Quantifying the phenome‐wide disease burden of obesity using electronic health records and genomics. Obesity 2022;30(12):2477 View
  67. Chong M, Mohammadi-Shemirani P, Perrot N, Nelson W, Morton R, Narula S, Lali R, Khan I, Khan M, Judge C, Machipisa T, Cawte N, O'Donnell M, Pigeyre M, Akhabir L, Paré G. GWAS and ExWAS of blood mitochondrial DNA copy number identifies 71 loci and highlights a potential causal role in dementia. eLife 2022;11 View
  68. Kerchberger V, Peterson J, Wei W. Scanning the medical phenome to identify new diagnoses after recovery from COVID-19 in a US cohort. Journal of the American Medical Informatics Association 2023;30(2):233 View
  69. Dashti H, Miranda N, Cade B, Huang T, Redline S, Karlson E, Saxena R. Interaction of obesity polygenic score with lifestyle risk factors in an electronic health record biobank. BMC Medicine 2022;20(1) View
  70. Yu M, Tcheandjieu C, Georges A, Xiao K, Tejeda H, Dina C, Le Tourneau T, Fiterau M, Judy R, Tsao N, Amgalan D, Munger C, Engreitz J, Damrauer S, Bouatia-Naji N, Priest J. Computational estimates of annular diameter reveal genetic determinants of mitral valve function and disease. JCI Insight 2022;7(3) View
  71. Hung T, Liu K, Wen S. Using the Phecode System to Identify the Preoperative Clinical Phenotypes Associated with Surgical Site Infection in Patients Undergoing Primary Total Knee Arthroplasty: The Sex Differences. Journal of Clinical Medicine 2022;11(19):5784 View
  72. Johnson J, Cote A, Dobbyn A, Sloofman L, Xu J, Cotter L, Charney A, Birgegård A, Jordan J, Kennedy M, Landén M, Maguire S, Martin N, Mortensen P, Thornton L, Bulik C, Huckins L. Mapping anorexia nervosa genes to clinical phenotypes. Psychological Medicine 2023;53(6):2619 View
  73. Nagar S, Conley A, Sharma S, Rishishwar L, Jordan I, Mariño-Ramírez L. Comparing Genetic and Socioenvironmental Contributions to Ethnic Differences in C-Reactive Protein. Frontiers in Genetics 2021;12 View
  74. Malik R, Beaufort N, Frerich S, Gesierich B, Georgakis M, Rannikmäe K, Ferguson A, Haffner C, Traylor M, Ehrmann M, Sudlow C, Dichgans M. Whole-exome sequencing reveals a role of HTRA1 and EGFL8 in brain white matter hyperintensities. Brain 2021;144(9):2670 View
  75. Jiang L, Kerchberger V, Shaffer C, Dickson A, Ormseth M, Daniel L, Leon B, Cox N, Chung C, Wei W, Stein C, Feng Q. Genome-wide association analyses of common infections in a large practice-based biobank. BMC Genomics 2022;23(1) View
  76. Spendlove S, Bondhus L, Lluri G, Sul J, Arboleda V. Polygenic risk scores of endo-phenotypes identify the effect of genetic background in congenital heart disease. Human Genetics and Genomics Advances 2022;3(3):100112 View
  77. Selvaraj M, Paruchuri K, Haidermota S, Bernardo R, Rich S, Peloso G, Natarajan P, Palsson A. Genome-wide discovery for diabetes-dependent triglycerides-associated loci. PLOS ONE 2022;17(10):e0275934 View
  78. Hou C, Zeng Y, Chen W, Han X, Yang H, Ying Z, Hu Y, Sun Y, Qu Y, Fang F, Song H. Medical conditions associated with coffee consumption: Disease-trajectory and comorbidity network analyses of a prospective cohort study in UK Biobank. The American Journal of Clinical Nutrition 2022;116(3):730 View
  79. Wang L, Fu S, Wen A, Ruan X, He H, Liu S, Moon S, Mai M, Riaz I, Wang N, Yang P, Xu H, Warner J, Liu H. Assessment of Electronic Health Record for Cancer Research and Patient Care Through a Scoping Review of Cancer Natural Language Processing. JCO Clinical Cancer Informatics 2022;(6) View
  80. Castro V, Gainer V, Wattanasin N, Benoit B, Cagan A, Ghosh B, Goryachev S, Metta R, Park H, Wang D, Mendis M, Rees M, Herrick C, Murphy S. The Mass General Brigham Biobank Portal: an i2b2-based data repository linking disparate and high-dimensional patient data to support multimodal analytics. Journal of the American Medical Informatics Association 2022;29(4):643 View
  81. Jiang L, Zheng Z, Fang H, Yang J. A generalized linear mixed model association tool for biobank-scale data. Nature Genetics 2021;53(11):1616 View
  82. Clark-Boucher D, Boss J, Salvatore M, Smith J, Fritsche L, Mukherjee B, Kardeş S. Assessing the added value of linking electronic health records to improve the prediction of self-reported COVID-19 testing and diagnosis. PLOS ONE 2022;17(7):e0269017 View
  83. Fromme M, Schneider C, Schlapbach C, Cazzaniga S, Trautwein C, Rader D, Borradori L, Strnad P. Comorbidities in lichen planus by phenome-wide association study in two biobank population cohorts. British Journal of Dermatology 2022;187(5):722 View
  84. Verma A, Damrauer S, Naseer N, Weaver J, Kripke C, Guare L, Sirugo G, Kember R, Drivas T, Dudek S, Bradford Y, Lucas A, Judy R, Verma S, Meagher E, Nathanson K, Feldman M, Ritchie M, Rader D. The Penn Medicine BioBank: Towards a Genomics-Enabled Learning Healthcare System to Accelerate Precision Medicine in a Diverse Population. Journal of Personalized Medicine 2022;12(12):1974 View
  85. Ramirez A, Sulieman L, Schlueter D, Halvorson A, Qian J, Ratsimbazafy F, Loperena R, Mayo K, Basford M, Deflaux N, Muthuraman K, Natarajan K, Kho A, Xu H, Wilkins C, Anton-Culver H, Boerwinkle E, Cicek M, Clark C, Cohn E, Ohno-Machado L, Schully S, Ahmedani B, Argos M, Cronin R, O’Donnell C, Fouad M, Goldstein D, Greenland P, Hebbring S, Karlson E, Khatri P, Korf B, Smoller J, Sodeke S, Wilbanks J, Hentges J, Mockrin S, Lunt C, Devaney S, Gebo K, Denny J, Carroll R, Glazer D, Harris P, Hripcsak G, Philippakis A, Roden D, Ahmedani B, Cole Johnson C, Ahsan H, Antoine-LaVigne D, Singleton G, Topol E, Baca-Motes K, Steinhubl S, Wade J, Begale M, Jain P, Sutherland S, Lewis B, Behringer M, Gharavi A, Bier L, Brilliant M, Murali N, Hebbring S, Farrar-Edwards D, Burnside E, Drezner M, Taylor A, Channamsetty V, Montalvo W, Sharma Y, Chinea C, Jenks N, Thibodeau S, Holmes B, Schlueter E, Collier E, Winkler J, Corcoran J, D’Addezio N, Daviglus M, Winn R, Roden D, Denny J, Doheny K, Nickerson D, Eichler E, Jarvik G, Funk G, Rehm H, Lennon N, Kathiresan S, Gabriel S, Gibbs R, Gil Rico E, Grand J, Harris P, Shenkman E, Hogan W, Igho-Pemu P, Pollan C, Jorge M, Okun S, Smoller J, Murphy S, Ross M, Kaushal R, Winford E, Wallace F, Kheterpal V, Ojo A, Moreno F, Kron I, Peterson R, Menon U, Lattimore P, Leviner N, Obedin-Maliver J, Lunn M, Malik-Gagnon L, Mangravite L, Marallo A, Marroquin O, Visweswaran S, Reis S, Marshall G, McGovern P, Mignucci D, Moore J, Munoz F, Talavera G, O'Connor G, O'Donnell C, Orr G, Randal F, Theodorou A, Reiman E, Roxas-Murray M, Stark L, Tepp R, Zhou A, Topper S, Trousdale R, Tsao P, Weidman L, Weiss S, Wellis D, Whittle J, Wilson A, Zuchner S, Zwick M. The All of Us Research Program: Data quality, utility, and diversity. Patterns 2022;3(8):100570 View
  86. Cadby G, Giles C, Melton P, Huynh K, Mellett N, Duong T, Nguyen A, Cinel M, Smith A, Olshansky G, Wang T, Brozynska M, Inouye M, McCarthy N, Ariff A, Hung J, Hui J, Beilby J, Dubé M, Watts G, Shah S, Wray N, Lim W, Chatterjee P, Martins I, Laws S, Porter T, Vacher M, Bush A, Rowe C, Villemagne V, Ames D, Masters C, Taddei K, Arnold M, Kastenmüller G, Nho K, Saykin A, Han X, Kaddurah-Daouk R, Martins R, Blangero J, Meikle P, Moses E. Comprehensive genetic analysis of the human lipidome identifies loci associated with lipid homeostasis with links to coronary artery disease. Nature Communications 2022;13(1) View
  87. Jain P, Miller-Fleming T, Topaloudi A, Yu D, Drineas P, Georgitsi M, Yang Z, Rizzo R, Müller-Vahl K, Tumer Z, Mol Debes N, Hartmann A, Depienne C, Worbe Y, Mir P, Cath D, Boomsma D, Roessner V, Wolanczyk T, Janik P, Szejko N, Zekanowski C, Barta C, Nemoda Z, Tarnok Z, Buxbaum J, Grice D, Glennon J, Stefansson H, Hengerer B, Benaroya-Milshtein N, Cardona F, Hedderly T, Heyman I, Huyser C, Morer A, Mueller N, Munchau A, Plessen K, Porcelli C, Walitza S, Schrag A, Martino D, Als T, Aschauer H, Atzmon G, Bækvad-Hansen M, Barr C, Barzilai N, Batterson J, Batterson R, Benarroch F, Berlin C, Boberg J, Bodmer B, Bohnenpoll J, Børglum A, Brown L, Bruun R, Budman C, Buckner R, Bybjerg-Grauholm J, Cheon K, Chouinard S, Coffey B, Coppola G, Crowley J, Dahl N, Davis L, Darrow S, Daly M, De Rubeis S, Dietrich A, Dion Y, Djurfeldt D, Domenech-Salgado L, Eapen V, Elzerman L, Fernandez T, Freimer Carolin Fremer N, Garcia-Delgar B, Garrido M, Gilbert D, Giusti-Rodriguez P, Grados M, Greenberg E, Grove J, Grice D, Hagstrom J, Halvorsen M, Hansen B, Haavik J, Hebebrand J, Heiman G, Herrera L, Hinney A, Hirschtritt M, Hoekstra P, Sul J, Hong H, Hougaard D, Huang A, Ibanez-Gomez L, Ivankovic F, Jankovic J, Karlsson E, Kaprio J, Kim Y, Kim Y, King R, Knowles J, Koh Y, Kook S, Khalifa N, Konstantinidis A, Kuperman S, Kurlan R, Kvale G, Leckman J, Lee P, Leventhal B, Lichtenstein P, Lindbald-Toh K, Lowe T, Ludolph A, da Silva C, Luðvigsson P, Luykx J, Lyon G, Mahjani B, Maras A, Mataix-Cols D, Mattheisen M, Mathews C, Malaty I, McMahon W, McQuillin A, Meier S, Moessner R, Mortensen P, Mors O, Mudgal P, Muller-Vahl K, Nagy P, Naarden A, Neale B, Nawaz M, Nissen J, Nöthen Merete Nordentoft M, Nordsletten A, Okun M, Ophoff R, Osiecki L, Palotie A, Palviainen T, Paschou P, Pato Michele T. Pato C, Pittenger C, Pollak Y, Posthuma D, Ramos E, Reichert J, Robertson M, Roffman J, Rouleau G, Rück C, Sæmundsen E, Samuels J, Sandin S, Sandor P, Schlögelhofer M, Scharf J, Shin E, Singer H, Smit J, Smoller J, State M, Solem S, Song D, Song J, Stamenkovic M, Stefansson K, Strom N, Stuhrmann M, Szatkiewicz J, Szymanska U, Tischfield J, Tsetsos F, Thorarensen Ó, Tubing J, Visscher F, Wagner M, Wanderer S, Wang S, Werge T, Willsey J, Wolancyk T, Woods D, Woods M, Zelaya I, Zinner S, Apter A, Ball J, Bognar E, Buse J, Vela M, Fremer C, Gulisano M, Hagen A, Hagstrøm J, Madruga-Garrido M, Pellico A, Ruhrman D, Schnell J, Silvestri P, Skov L, Steinberg T, Gloor F, Turner V, Weidinger E, Alexander J, Aranyi T, Buisman W, Buitelaar J, Driessen N, Fan S, Forde N, Gerasch S, van den Heuvel O, Jespersgaard C, Kanaan A, Möller H, Nespoli E, Pagliaroli L, Poelmans G, Pouwels P, Rizzo F, Veltman D, van der Werf Y, Widomska J, Zilhäo N. Polygenic risk score-based phenome-wide association study identifies novel associations for Tourette syndrome. Translational Psychiatry 2023;13(1) View
  88. Zanussi J, Zhao J, Dorn C, Liu G, Feng Q, Wei W, Mosley J, Stein C, Kawai V. Identifying Potential Therapeutic Applications and Diagnostic Harms of Increased Bilirubin Concentrations: A Clinical and Genetic Approach. Clinical Pharmacology & Therapeutics 2022;111(2):435 View
  89. Birnbaum R, Mahjani B, Loos R, Sharp A. Clinical Characterization of Copy Number Variants Associated With Neurodevelopmental Disorders in a Large-scale Multiancestry Biobank. JAMA Psychiatry 2022;79(3):250 View
  90. Krantz M, Kerchberger V, Wei W. Novel Analysis Methods to Mine Immune-Mediated Phenotypes and Find Genetic Variation Within the Electronic Health Record (Roadmap for Phenotype to Genotype: Immunogenomics). The Journal of Allergy and Clinical Immunology: In Practice 2022;10(7):1757 View
  91. Aung N, Vargas J, Yang C, Fung K, Sanghvi M, Piechnik S, Neubauer S, Manichaikul A, Rotter J, Taylor K, Lima J, Bluemke D, Kawut S, Petersen S, Munroe P. Genome-wide association analysis reveals insights into the genetic architecture of right ventricular structure and function. Nature Genetics 2022;54(6):783 View
  92. Hou C, Yang H, Qu Y, Chen W, Zeng Y, Hu Y, Narayan K, Song H, Li D. Health consequences of early-onset compared with late-onset type 2 diabetes mellitus. Precision Clinical Medicine 2022;5(2) View
  93. Pirruccello J, Chaffin M, Chou E, Fleming S, Lin H, Nekoui M, Khurshid S, Friedman S, Bick A, Arduini A, Weng L, Choi S, Akkad A, Batra P, Tucker N, Hall A, Roselli C, Benjamin E, Vellarikkal S, Gupta R, Stegmann C, Juric D, Stone J, Vasan R, Ho J, Hoffmann U, Lubitz S, Philippakis A, Lindsay M, Ellinor P. Deep learning enables genetic analysis of the human thoracic aorta. Nature Genetics 2022;54(1):40 View
  94. Tcheandjieu C, Zhu X, Hilliard A, Clarke S, Napolioni V, Ma S, Lee K, Fang H, Chen F, Lu Y, Tsao N, Raghavan S, Koyama S, Gorman B, Vujkovic M, Klarin D, Levin M, Sinnott-Armstrong N, Wojcik G, Plomondon M, Maddox T, Waldo S, Bick A, Pyarajan S, Huang J, Song R, Ho Y, Buyske S, Kooperberg C, Haessler J, Loos R, Do R, Verbanck M, Chaudhary K, North K, Avery C, Graff M, Haiman C, Le Marchand L, Wilkens L, Bis J, Leonard H, Shen B, Lange L, Giri A, Dikilitas O, Kullo I, Stanaway I, Jarvik G, Gordon A, Hebbring S, Namjou B, Kaufman K, Ito K, Ishigaki K, Kamatani Y, Verma S, Ritchie M, Kember R, Baras A, Lotta L, Kathiresan S, Hauser E, Miller D, Lee J, Saleheen D, Reaven P, Cho K, Gaziano J, Natarajan P, Huffman J, Voight B, Rader D, Chang K, Lynch J, Damrauer S, Wilson P, Tang H, Sun Y, Tsao P, O’Donnell C, Assimes T. Large-scale genome-wide association study of coronary artery disease in genetically diverse populations. Nature Medicine 2022;28(8):1679 View
  95. Zekavat S, Raghu V, Trinder M, Ye Y, Koyama S, Honigberg M, Yu Z, Pampana A, Urbut S, Haidermota S, O’Regan D, Zhao H, Ellinor P, Segrè A, Elze T, Wiggs J, Martone J, Adelman R, Zebardast N, Del Priore L, Wang J, Natarajan P. Deep Learning of the Retina Enables Phenome- and Genome-Wide Analyses of the Microvasculature. Circulation 2022;145(2):134 View
  96. Shepherd B, Han K, Chen T, Bian A, Pugh S, Duda S, Lumley T, Heerman W, Shaw P. Multiwave validation sampling for error‐prone electronic health records. Biometrics 2023;79(3):2649 View
  97. Privé F, Arbel J, Aschard H, Vilhjálmsson B. Identifying and correcting for misspecifications in GWAS summary statistics and polygenic scores. Human Genetics and Genomics Advances 2022;3(4):100136 View
  98. Aung N, Lopes L, van Duijvenboden S, Harper A, Goel A, Grace C, Ho C, Weintraub W, Kramer C, Neubauer S, Watkins H, Petersen S, Munroe P. Genome-Wide Analysis of Left Ventricular Maximum Wall Thickness in the UK Biobank Cohort Reveals a Shared Genetic Background With Hypertrophic Cardiomyopathy. Circulation: Genomic and Precision Medicine 2023;16(1) View
  99. Privé F, Aschard H, Carmi S, Folkersen L, Hoggart C, O’Reilly P, Vilhjálmsson B. Portability of 245 polygenic scores when derived from the UK Biobank and applied to 9 ancestry groups from the same cohort. The American Journal of Human Genetics 2022;109(1):12 View
  100. Haupert S, Shi X, Chen C, Fritsche L, Mukherjee B. A Case-Crossover Phenome-wide association study (PheWAS) for understanding Post-COVID-19 diagnosis patterns. Journal of Biomedical Informatics 2022;136:104237 View
  101. De Freitas J, Johnson K, Golden E, Nadkarni G, Dudley J, Bottinger E, Glicksberg B, Miotto R. Phe2vec: Automated disease phenotyping based on unsupervised embeddings from electronic health records. Patterns 2021;2(9):100337 View
  102. Ahmed M, Mäkinen V, Mulugeta A, Shin J, Boyle T, Hyppönen E, Lee S. Considering hormone-sensitive cancers as a single disease in the UK biobank reveals shared aetiology. Communications Biology 2022;5(1) View
  103. Estiri H, Strasser Z, Brat G, Semenov Y, Aaron J, Agapito G, Albayrak A, Alessiani M, Amendola D, Anthony L, Aronow B, Ashraf F, Atz A, Avillach P, Balshi J, Beaulieu-Jones B, Bell D, Bellasi A, Bellazzi R, Benoit V, Beraghi M, Sobrino J, Bernaux M, Bey R, Martínez A, Boeker M, Bonzel C, Booth J, Bosari S, Bourgeois F, Bradford R, Bréant S, Brown N, Bryant W, Bucalo M, Burgun A, Cai T, Cannataro M, Carmona A, Caucheteux C, Champ J, Chen J, Chen K, Chiovato L, Chiudinelli L, Cho K, Cimino J, Colicchio T, Cormont S, Cossin S, Craig J, Bermúdez J, Rojo J, Dagliati A, Daniar M, Daniel C, Davoudi A, Devkota B, Dubiel J, Esteve L, Estiri H, Fan S, Follett R, Gaiolla P, Ganslandt T, Barrio N, Garmire L, Gehlenborg N, Geva A, Gradinger T, Gramfort A, Griffier R, Griffon N, Grisel O, Gutiérrez-Sacristán A, Hanauer D, Haverkamp C, He B, Henderson D, Hilka M, Holmes J, Hong C, Horki P, Huling K, Hutch M, Issitt R, Jannot A, Jouhet V, Keller M, Kirchoff K, Klann J, Kohane I, Krantz I, Kraska D, Krishnamurthy A, L’Yi S, Le T, Leblanc J, Leite A, Lemaitre G, Lenert L, Leprovost D, Liu M, Loh N, Lozano-Zahonero S, Luo Y, Lynch K, Mahmood S, Maidlow S, Malovini A, Mandl K, Mao C, Maram A, Martel P, Masino A, Mazzitelli M, Mensch A, Milano M, Minicucci M, Moal B, Moore J, Moraleda C, Morris J, Morris M, Moshal K, Mousavi S, Mowery D, Murad D, Murphy S, Naughton T, Neuraz A, Ngiam K, Norman J, Obeid J, Okoshi M, Olson K, Omenn G, Orlova N, Ostasiewski B, Palmer N, Paris N, Patel L, Jimenez M, Pfaff E, Pillion D, Prokosch H, Prudente R, González V, Ramoni R, Raskin M, Rieg S, Domínguez G, Rojo P, Sáez C, Salamanca E, Samayamuthu M, Sandrin A, Santos J, Savino M, Schriver E, Schubert P, Schuettler J, Scudeller L, Sebire N, Balazote P, Serre P, Serret-Larmande A, Shakeri Z, Silvio D, Sliz P, Son J, Sonday C, South A, Spiridou A, Tan A, Tan B, Tan B, Tanni S, Taylor D, Terriza Torres A, Tibollo V, Tippmann P, Torti C, Trecarichi E, Tseng Y, Vallejos A, Varoquaux G, Vella M, Verdy G, Vie J, Visweswaran S, Vitacca M, Wagholikar K, Waitman L, Wang X, Wassermann D, Weber G, Xia Z, Yehya N, Yuan W, Zambelli A, Zhang H, Zoeller D, Zucco C, Patel C. Evolving phenotypes of non-hospitalized patients that indicate long COVID. BMC Medicine 2021;19(1) View
  104. Raghavan S, Huang J, Tcheandjieu C, Huffman J, Litkowski E, Liu C, Ho Y, Hunter-Zinck H, Zhao H, Marouli E, North K, Lange E, Lange L, Voight B, Gaziano J, Pyarajan S, Hauser E, Tsao P, Wilson P, Chang K, Cho K, O’Donnell C, Sun Y, Assimes T, Gibson G. A multi-population phenome-wide association study of genetically-predicted height in the Million Veteran Program. PLOS Genetics 2022;18(6):e1010193 View
  105. Linder J, Bastarache L, Hughey J, Peterson J. The Role of Electronic Health Records in Advancing Genomic Medicine. Annual Review of Genomics and Human Genetics 2021;22(1):219 View
  106. Sarwar T, Seifollahi S, Chan J, Zhang X, Aksakalli V, Hudson I, Verspoor K, Cavedon L. The Secondary Use of Electronic Health Records for Data Mining: Data Characteristics and Challenges. ACM Computing Surveys 2023;55(2):1 View
  107. Liu S, Crawford D. Maturation and application of phenome-wide association studies. Trends in Genetics 2022;38(4):353 View
  108. Attard T, Omar U, Glynn E, Stoecklein N, St Peter S, Thomson M. Gastric cancer in the pediatric population, a multicenter cross-sectional analysis of presentation and coexisting comorbidities. Journal of Cancer Research and Clinical Oncology 2023;149(3):1261 View
  109. Kerley C, Chaganti S, Nguyen T, Bermudez C, Cutting L, Beason-Held L, Lasko T, Landman B. pyPheWAS: A Phenome-Disease Association Tool for Electronic Medical Record Analysis. Neuroinformatics 2022;20(2):483 View
  110. Voss R, Schmidt T, Weiskopf N, Marino M, Dorr D, Huguet N, Warren N, Valenzuela S, O’Malley J, Quiñones A. Comparing ascertainment of chronic condition status with problem lists versus encounter diagnoses from electronic health records. Journal of the American Medical Informatics Association 2022;29(5):770 View
  111. Zhang H, Dagliati A, Shakeri Hossein Abad Z, Xiong X, Bonzel C, Xia Z, Tan B, Avillach P, Brat G, Hong C, Morris M, Visweswaran S, Patel L, Gutiérrez-Sacristán A, Hanauer D, Holmes J, Samayamuthu M, Bourgeois F, L’Yi S, Maidlow S, Moal B, Murphy S, Strasser Z, Neuraz A, Ngiam K, Loh N, Omenn G, Prunotto A, Dalvin L, Klann J, Schubert P, Vidorreta F, Benoit V, Verdy G, Kavuluru R, Estiri H, Luo Y, Malovini A, Tibollo V, Bellazzi R, Cho K, Ho Y, Tan A, Tan B, Gehlenborg N, Lozano-Zahonero S, Jouhet V, Chiovato L, Aronow B, Toh E, Wong W, Pizzimenti S, Wagholikar K, Bucalo M, Cai T, South A, Kohane I, Weber G. International electronic health record-derived post-acute sequelae profiles of COVID-19 patients. npj Digital Medicine 2022;5(1) View
  112. Rocheleau G, Forrest I, Duffy Á, Bafna S, Dobbyn A, Verbanck M, Won H, Jordan D, Do R. A tissue-level phenome-wide network map of colocalized genes and phenotypes in the UK Biobank. Communications Biology 2022;5(1) View
  113. van Duijvenboden S, Ramírez J, Young W, Orini M, Mifsud B, Tinker A, Lambiase P, Munroe P. Genomic and pleiotropic analyses of resting QT interval identifies novel loci and overlap with atrial electrical disorders. Human Molecular Genetics 2021;30(24):2513 View
  114. Jiang X, Holmes C, McVean G, Manolio T. The impact of age on genetic risk for common diseases. PLOS Genetics 2021;17(8):e1009723 View
  115. Khurshid S, Weng L, Nauffal V, Pirruccello J, Venn R, Al-Alusi M, Benjamin E, Ellinor P, Lubitz S. Wearable accelerometer-derived physical activity and incident disease. npj Digital Medicine 2022;5(1) View
  116. Surendran P, Stewart I, Au Yeung V, Pietzner M, Raffler J, Wörheide M, Li C, Smith R, Wittemans L, Bomba L, Menni C, Zierer J, Rossi N, Sheridan P, Watkins N, Mangino M, Hysi P, Di Angelantonio E, Falchi M, Spector T, Soranzo N, Michelotti G, Arlt W, Lotta L, Denaxas S, Hemingway H, Gamazon E, Howson J, Wood A, Danesh J, Wareham N, Kastenmüller G, Fauman E, Suhre K, Butterworth A, Langenberg C. Rare and common genetic determinants of metabolic individuality and their effects on human health. Nature Medicine 2022;28(11):2321 View
  117. Sun S, Liu L, Shao X, Yan C, Li X, Hu B. Abnormal Brain Topological Structure of Mild Depression During Visual Search Processing Based on EEG Signals. IEEE Transactions on Neural Systems and Rehabilitation Engineering 2022;30:1705 View
  118. Liu G, Jiang L, Kerchberger V, Oeser A, Ihegword A, Dickson A, Daniel L, Shaffer C, Linton M, Cox N, Chung C, Wei W, Stein C, Feng Q. The relationship between high density lipoprotein cholesterol and sepsis: A clinical and genetic approach. Clinical and Translational Science 2023;16(3):489 View
  119. Zamariolli M, Auwerx C, Sadler M, van der Graaf A, Lepik K, Schoeler T, Moysés-Oliveira M, Dantas A, Melaragno M, Kutalik Z. The impact of 22q11.2 copy-number variants on human traits in the general population. The American Journal of Human Genetics 2023;110(2):300 View
  120. Zorkoltseva I, Shadrina A, Belonogova N, Kirichenko A, Tsepilov Y, Axenovich T. In silico genome‐wide gene‐based association analysis reveals new genes predisposing to coronary artery disease. Clinical Genetics 2022;101(1):78 View
  121. Francis C, Futschik M, Huang J, Bai W, Sargurupremraj M, Teumer A, Breteler M, Petretto E, Ho A, Amouyel P, Engelter S, Bülow R, Völker U, Völzke H, Dörr M, Imtiaz M, Aziz N, Lohner V, Ware J, Debette S, Elliott P, Dehghan A, Matthews P. Genome-wide associations of aortic distensibility suggest causality for aortic aneurysms and brain white matter hyperintensities. Nature Communications 2022;13(1) View
  122. Vaitinadin N, Shi M, Shaffer C, Farber‐Eger E, Lowery B, Agrawal V, Gupta D, Roden D, Wells Q, Mosley J. Genetic Determinants of Body Mass Index and Fasting Glucose Are Mediators of Grade 1 Diastolic Dysfunction. Journal of the American Heart Association 2022;11(11) View
  123. Dib M, Ahmadi K, Zagkos L, Gill D, Morris B, Elliott P, Dehghan A, Tzoulaki I. Associations of Genetically Predicted Vitamin B12 Status across the Phenome. Nutrients 2022;14(23):5031 View
  124. Ahmed W, Kleeman S, Ng M, Wang W, Auton A, Agee M, Aslibekyan S, Bell R, Bryc K, Clark S, Elson S, Fletez-Brant K, Fontanillas P, Furlotte N, Gandhi P, Heilbron K, Hicks B, Hinds D, Huber K, Jewett E, Jiang Y, Kleinman A, Lin K, Litterman N, Luff M, McCreight J, McIntyre M, McManus K, Mountain J, Mozaffari S, Nandakumar P, Noblin E, Northover C, O’Connell J, Petrakovitz A, Pitts S, Poznik G, Sathirapongsasuti J, Shastri A, Shelton J, Shringarpure S, Tian C, Tung J, Tunney R, Vacic V, Wang X, Zare A, Lee R, Handa A, Zondervan K, Wiberg A, Furniss D. Genome-wide association analysis and replication in 810,625 individuals with varicose veins. Nature Communications 2022;13(1) View
  125. Ahmed M, Mulugeta A, Lee S, Mäkinen V, Boyle T, Hyppönen E. Adiposity and cancer: a Mendelian randomization analysis in the UK biobank. International Journal of Obesity 2021;45(12):2657 View
  126. Wendt F, Pathak G, Singh K, Stein M, Koenen K, Krystal J, Gelernter J, Davis L, Polimanti R. Sex-Specific Genetic and Transcriptomic Liability to Neuroticism. Biological Psychiatry 2023;93(3):243 View
  127. Bruun-Rasmussen P, Hanefeld Dziegiel M, Banasik K, Johansson P, Brunak S. Associations of ABO and Rhesus D blood groups with phenome-wide disease incidence: A 41-year retrospective cohort study of 482,914 patients. eLife 2023;12 View
  128. McArthur E, Bastarache L, Capra J. Linking rare and common disease vocabularies by mapping between the human phenotype ontology and phecodes. JAMIA Open 2023;6(1) View
  129. Xu Y, Ritchie S, Liang Y, Timmers P, Pietzner M, Lannelongue L, Lambert S, Tahir U, May-Wilson S, Foguet C, Johansson Å, Surendran P, Nath A, Persyn E, Peters J, Oliver-Williams C, Deng S, Prins B, Luan J, Bomba L, Soranzo N, Di Angelantonio E, Pirastu N, Tai E, van Dam R, Parkinson H, Davenport E, Paul D, Yau C, Gerszten R, Mälarstig A, Danesh J, Sim X, Langenberg C, Wilson J, Butterworth A, Inouye M. An atlas of genetic scores to predict multi-omic traits. Nature 2023;616(7955):123 View
  130. Pirruccello J, Rämö J, Choi S, Chaffin M, Kany S, Nekoui M, Chou E, Jurgens S, Friedman S, Juric D, Stone J, Batra P, Ng K, Philippakis A, Lindsay M, Ellinor P. The Genetic Determinants of Aortic Distention. Journal of the American College of Cardiology 2023;81(14):1320 View
  131. Vukadinovic M, Kwan A, Yuan V, Salerno M, Lee D, Albert C, Cheng S, Li D, Ouyang D, Clarke S. Deep learning-enabled analysis of medical images identifies cardiac sphericity as an early marker of cardiomyopathy and related outcomes. Med 2023;4(4):252 View
  132. Woldemariam S, Tang A, Oskotsky T, Yaffe K, Sirota M. Similarities and differences in Alzheimer’s dementia comorbidities in racialized populations identified from electronic medical records. Communications Medicine 2023;3(1) View
  133. Vaitinadin N, Stein C, Mosley J, Kawai V. Genetic susceptibility for autoimmune diseases and white blood cell count. Scientific Reports 2023;13(1) View
  134. Chung C, Karakoc G, Dickson A, Liu G, Gamboa J, Mosley J, Cox N, Kawai V. APOL1 and the risk of adverse renal outcomes in patients of African ancestry with systemic lupus erythematosus. Lupus 2023;32(6):763 View
  135. Zhang H, McDermott G, Seyok T, Huang S, Dahal K, L’Yi S, Lea-Bonzel C, Stratton J, Weisenfeld D, Monach P, Raychaudhuri S, Yu K, Cai T, Cui J, Hong C, Cai T, Liao K. Identifying shared genetic architecture between rheumatoid arthritis and other conditions: a phenome-wide association study with genetic risk scores. eBioMedicine 2023;92:104581 View
  136. Ru B, Tan X, Liu Y, Kannapur K, Ramanan D, Kessler G, Lautsch D, Fonarow G. Comparison of Machine Learning Algorithms for Predicting Hospital Readmissions and Worsening Heart Failure Events in Patients With Heart Failure With Reduced Ejection Fraction: Modeling Study. JMIR Formative Research 2023;7:e41775 View
  137. Hicks E, Seah C, Cote A, Marchese S, Brennand K, Nestler E, Girgenti M, Huckins L. Integrating genetics and transcriptomics to study major depressive disorder: a conceptual framework, bioinformatic approaches, and recent findings. Translational Psychiatry 2023;13(1) View
  138. Nagar S, Jordan I, Mariño-Ramírez L. The landscape of health disparities in the UK Biobank. Database 2023;2023 View
  139. Nealon C, Halladay C, Gorman B, Simpson P, Roncone D, Canania R, Anthony S, Sawicki Rogers L, Leber J, Dougherty J, Cooke Bailey J, Crawford D, Sullivan J, Galor A, Wu W, Greenberg P, Lass J, Iyengar S, Peachey N. Association Between Fuchs Endothelial Corneal Dystrophy, Diabetes Mellitus, and Multimorbidity. Cornea 2023;42(9):1140 View
  140. Gumuser E, Schuermans A, Cho S, Sporn Z, Uddin M, Paruchuri K, Nakao T, Yu Z, Haidermota S, Hornsby W, Weeks L, Niroula A, Jaiswal S, Libby P, Ebert B, Bick A, Natarajan P, Honigberg M. Clonal Hematopoiesis of Indeterminate Potential Predicts Adverse Outcomes in Patients With Atherosclerotic Cardiovascular Disease. Journal of the American College of Cardiology 2023;81(20):1996 View
  141. Reyes Dassum S, Mull H, Golenbock S, Lamkin R, Epshtein I, Shin M, Strymish J, Blumenthal K, Colborn K, Branch-Elliman W. A Novel Informatics Tool to Detect Periprocedural Antibiotic Allergy Adverse Events for Near Real-time Surveillance to Support Audit and Feedback. JAMA Network Open 2023;6(5):e2313964 View
  142. Jiang L, Liu G, Oeser A, Ihegword A, Dickson A, Daniel L, Hung A, Cox N, Chung C, Wei W, Stein C, Feng Q. Association between APOL1 risk variants and the occurrence of sepsis in Black patients hospitalized with infections: a retrospective cohort study. eLife 2023;12 View
  143. Yu M, Harper A, Aguirre M, Pittman M, Tcheandjieu C, Amgalan D, Grace C, Goel A, Farrall M, Xiao K, Engreitz J, Pollard K, Watkins H, Priest J. Genetic Determinants of the Interventricular Septum Are Linked to Ventricular Septal Defects and Hypertrophic Cardiomyopathy. Circulation: Genomic and Precision Medicine 2023;16(3):207 View
  144. Barr P, Bigdeli T, Meyers J, Peterson R, Sanchez-Roige S, Mallard T, Dick D, Harden K, Wilkinson A, Graham D, Nielsen D, Swann A, Lipsky R, Kosten T, Aslan M, Harvey P, Kimbrel N, Beckham J, Antonelli M, de Asis M, Bauer M, Brophy M, Concato J, Cunningham F, Freedman R, Gaziano M, Gleason T, Harvey P, Huang G, Kelsoe J, Kosten T, Lehner T, Lohr J, Marder S, Miller P, O Leary T, Patterson T, Peduzzi P, Przygodski R, Siever L, Sklar P, Strakowski S, Zhao H, Fanous A, Farwell W, Malhorta A, Mane S, Palacios P, Bigdeli T, Corsey M, Zaluda L, Johnson J, Sueiro M, Cavaliere D, Jeanpaul V, Maffucci A, Mancini L, Deen J, Muldoon G, Whitbourne S, Canive J, Adamson L, Calais L, Fuldauer G, Kushner R, Toney G, Lackey M, Mank A, Mahdavi N, Villarreal G, Muly E, Amin F, Dent M, Wold J, Fischer B, Elliott A, Felix C, Gill G, Parker P, Logan C, McAlpine J, DeLisi L, Reece S, Hammer M, Agbor-Tabie D, Goodson W, Aslam M, Grainger M, Richtand N, Rybalsky A, Al Jurdi R, Boeckman E, Natividad T, Smith D, Stewart M, Torres S, Zhao Z, Mayeda A, Green A, Hofstetter J, Ngombu S, Scott M, Strasburger A, Sumner J, Paschall G, Mucciarelli J, Owen R, Theus S, Tompkins D, Potkin S, Reist C, Novin M, Khalaghizadeh S, Douyon R, Kumar N, Martinez B, Sponheim S, Bender T, Lucas H, Lyon A, Marggraf M, Sorensen L, Surerus C, Sison C, Amato J, Johnson D, Pagan-Howard N, Adler L, Alerpin S, Leon T, Mattocks K, Araeva N, Sullivan J, Suppes T, Bratcher K, Drag L, Fischer E, Fujitani L, Gill S, Grimm D, Hoblyn J, Nguyen T, Nikolaev E, Shere L, Relova R, Vicencio A, Yip M, Hurford I, Acheampong S, Carfagno G, Haas G, Appelt C, Brown E, Chakraborty B, Kelly E, Klima G, Steinhauer S, Hurley R, Belle R, Eknoyan D, Johnson K, Lamotte J, Granholm E, Bradshaw K, Holden J, Jones R, Le T, Molina I, Peyton M, Ruiz I, Sally L, Tapp A, Devroy S, Jain V, Kilzieh N, Maus L, Miller K, Pope H, Wood A, Meyer E, Givens P, Hicks P, Justice S, McNair K, Pena J, Tharp D, Davis L, Ban M, Cheatum L, Darr P, Grayson W, Munford J, Whitfield B, Wilson E, Melnikoff S, Schwartz B, Tureson M, D Souza D, Forselius K, Ranganathan M, Rispoli L, Sather M, Colling C, Haakenson C, Kruegar D, Muralidhar S, Ramoni R, Breeling J, Chang K, O Donnell C, Tsao P, Moser J, Brewer J, Warren S, Argyres D, Stevens B, Humphries D, Do N, Shayan S, Nguyen X, Pyarajan S, Cho K, Hauser E, Sun Y, Wilson P, McArdle R, Dellitalia L, Harley J, Whittle J. Correlates of Risk for Disinhibited Behaviors in the Million Veteran Program Cohort. JAMA Psychiatry 2024;81(2):188 View
  145. Schalkamp A, Peall K, Harrison N, Sandor C. Wearable movement-tracking data identify Parkinson’s disease years before clinical diagnosis. Nature Medicine 2023;29(8):2048 View
  146. Jiang L, Liu G, Oeser A, Ihegword A, Dickson A, Daniel L, Hung A, Cox N, Chung C, Wei W, Stein C, Feng Q. Association between APOL1 risk variants and the occurrence of sepsis in Black patients hospitalized with infections: a retrospective cohort study. eLife 2023;12 View
  147. Burstein D, Griffen T, Therrien K, Bendl J, Venkatesh S, Dong P, Modabbernia A, Zeng B, Mathur D, Hoffman G, Sysko R, Hildebrandt T, Voloudakis G, Roussos P. Genome-wide analysis of a model-derived binge eating disorder phenotype identifies risk loci and implicates iron metabolism. Nature Genetics 2023;55(9):1462 View
  148. Schuler B, Bastarache L, Wang J, He J, Van Driest S, Denny J, Strnad P. Population genetic testing and SERPINA1 sequencing identifies unidentified alpha-1 antitrypsin deficiency alleles and gene-environment interaction with hepatitis C infection. PLOS ONE 2023;18(8):e0286469 View
  149. Privé F, Albiñana C, Arbel J, Pasaniuc B, Vilhjálmsson B. Inferring disease architecture and predictive ability with LDpred2-auto. The American Journal of Human Genetics 2023;110(12):2042 View
  150. Jiang X, Zhang M, Zhang Y, Durvasula A, Inouye M, Holmes C, Price A, McVean G. Age-dependent topic modeling of comorbidities in UK Biobank identifies disease subtypes with differential genetic risk. Nature Genetics 2023;55(11):1854 View
  151. Walters R, Millwood I, Lin K, Schmidt Valle D, McDonnell P, Hacker A, Avery D, Edris A, Fry H, Cai N, Kretzschmar W, Ansari M, Lyons P, Collins R, Donnelly P, Hill M, Peto R, Shen H, Jin X, Nie C, Xu X, Guo Y, Yu C, Lv J, Clarke R, Li L, Chen Z. Genotyping and population characteristics of the China Kadoorie Biobank. Cell Genomics 2023;3(8):100361 View
  152. Niarchou M, Miller-Fleming T, Malow B, Davis L. The physical and psychiatric health conditions related to autism genetic scores, across genetic ancestries, sexes and age-groups in electronic health records. Journal of Neurodevelopmental Disorders 2023;15(1) View
  153. Seidlitz J, Mallard T, Vogel J, Lee Y, Warrier V, Ball G, Hansson O, Hernandez L, Mandal A, Wagstyl K, Lombardo M, Courchesne E, Glessner J, Satterthwaite T, Bethlehem R, Bernstock J, Tasaki S, Ng B, Gaiteri C, Smoller J, Ge T, Gur R, Gandal M, Alexander-Bloch A. The molecular genetic landscape of human brain size variation. Cell Reports 2023;42(11):113439 View
  154. Nordeidet A, Klevjer M, Wisløff U, Langaas M, Bye A. Exploring shared genetics between maximal oxygen uptake and disease: the HUNT study. Physiological Genomics 2023;55(10):440 View
  155. Sakaue S, Gurajala S, Curtis M, Luo Y, Choi W, Ishigaki K, Kang J, Rumker L, Deutsch A, Schönherr S, Forer L, LeFaive J, Fuchsberger C, Han B, Lenz T, de Bakker P, Okada Y, Smith A, Raychaudhuri S. Tutorial: a statistical genetics guide to identifying HLA alleles driving complex disease. Nature Protocols 2023;18(9):2625 View
  156. Zanussi J, Zhao J, Wei W, Karakoc G, Chung C, Feng Q, Olsen N, Stein C, Kawai V. Clinical diagnoses associated with a positive antinuclear antibody test in patients with and without autoimmune disease. BMC Rheumatology 2023;7(1) View
  157. Hartmann S, Yasmeen S, Jacobs B, Denaxas S, Pirmohamed M, Gamazon E, Caulfield M, Hemingway H, Pietzner M, Langenberg C. ADRA2A and IRX1 are putative risk genes for Raynaud’s phenomenon. Nature Communications 2023;14(1) View
  158. Ahmed S, Li R, Richardson P, Ghosh S, Steele L, White D, Djotsa A, Sims K, Gifford E, Hauser E, Virani S, Morgan R, Delclos G, Helmer D. Association of Atherosclerotic Cardiovascular Disease, Hypertension, Diabetes, and Hyperlipidemia With Gulf War Illness Among Gulf War Veterans. Journal of the American Heart Association 2023;12(19) View
  159. Shuey M, Stead W, Aka I, Barnado A, Bastarache J, Brokamp E, Campbell M, Carroll R, Goldstein J, Lewis A, Malow B, Mosley J, Osterman T, Padovani-Claudio D, Ramirez A, Roden D, Schuler B, Siew E, Sucre J, Thomsen I, Tinker R, Van Driest S, Walsh C, Warner J, Wells Q, Wheless L, Bastarache L, Kendziorski C. Next-generation phenotyping: introducing phecodeX for enhanced discovery research in medical phenomics. Bioinformatics 2023;39(11) View
  160. Lanzer J, Valdeolivas A, Pepin M, Hund H, Backs J, Frey N, Friederich H, Schultz J, Saez-Rodriguez J, Levinson R. A network medicine approach to study comorbidities in heart failure with preserved ejection fraction. BMC Medicine 2023;21(1) View
  161. Lentzen M, Linden T, Veeranki S, Madan S, Kramer D, Leodolter W, Fröhlich H. A Transformer-Based Model Trained on Large Scale Claims Data for Prediction of Severe COVID-19 Disease Progression. IEEE Journal of Biomedical and Health Informatics 2023;27(9):4548 View
  162. Lake A, Goleva S, Samuels L, Carpenter L, Davis L. Sex Differences in Health Conditions Associated with Sexual Assault in a Large Hospital Population. Complex Psychiatry 2022;8(3-4):80 View
  163. Gagliano Taliun S, Dinsmore I, Mirshahi T, Chang A, Paterson A, Barua M. GWAS for the composite traits of hematuria and albuminuria. Scientific Reports 2023;13(1) View
  164. Powell W, Song X, Mohamed Y, Walsh D, Parks E, McMahon T, Khan M, Waitman L. Medications and conditions associated with weight loss in patients prescribed semaglutide based on real‐world data. Obesity 2023;31(10):2482 View
  165. Johnston K, Cote A, Hicks E, Johnson J, Huckins L. Genetically Regulated Gene Expression in the Brain Associated With Chronic Pain: Relationships With Clinical Traits and Potential for Drug Repurposing. Biological Psychiatry 2024;95(8):745 View
  166. Brooks T, Lahens N, Grant G, Sheline Y, FitzGerald G, Skarke C. Diurnal rhythms of wrist temperature are associated with future disease risk in the UK Biobank. Nature Communications 2023;14(1) View
  167. Xiao M, Li A, Wang Y, Yu C, Pang Y, Pei P, Yang L, Chen Y, Du H, Schmidt D, Avery D, Sun Q, Chen J, Chen Z, Li L, Lv J, Sun D, Chen (PI Z, Clarke R, Collins R, Guo Y, Li (PI L, Peto R, Walters R, Bennett D, Boxall R, Burgess S, Chan K, Chang Y, Clarke J, Mohamed A, Fairhurst-Hunter Z, Fry H, Hill M, Holmes M, Im P, Iona A, Kakkoura M, Kartsonaki C, Kerosi R, Lin K, Mazidi M, Millwood I, Morris S, Nie Q, Pozarickij A, Ryder P, Said S, Sherliker P, Stevens B, Turnbull I, Wang L, Wright N, Yang X, Yao P, Han X, Hou C, Liu C, Xia Q, Pang Z, Gao R, Li S, Duan H, Wang S, Liu Y, Du R, Zang Y, Cheng L, Tian X, Zhang H, Zhai Y, Ning F, Sun X, Li F, Lv S, Wang J, Hou W, Sun W, Yan S, Cui X, Wang C, Wu Z, Li Y, Kang Q, Luo H, Ou T, Zheng X, Guo Z, Wu S, Li Y, Li H, Wu M, Zhou Y, Zhou J, Tao R, Yang J, Su J, Liu F, Zhang J, Hu Y, Lu Y, Ma L, Tang A, Zhang S, Jin J, Liu J, Lin M, Lu Z, Zhou L, Xie C, Lan J, Zhu T, Liu Y, Wei L, Zhou L, Chen N, Qin Y, Wang S, Wu X, Zhang N, Chen X, Chang X, Yuan M, Wu X, Jiang W, Liu J, Chen F, Ren X, Dong C, Zhang H, Mao E, Wang X, Wang T, zhang X, Kang K, Feng S, Tian H, Fan L, Li X, Sun H, He P, Zhang X, Yu M, Hu R, Wang H, Zhang X, Cao Y, Xie K, Chen L, Shen D, Li X, Jin D, Yin L, Liu H, Fu Z, Xu X, Zhang H, Chen J, Peng Y, Zhang L, Qu C. A wide landscape of morbidity and mortality risk associated with marital status in 0.5 million Chinese men and women: a prospective cohort study. The Lancet Regional Health - Western Pacific 2024;42:100948 View
  168. Estiri H, Azhir A, Blacker D, Ritchie C, Patel C, Murphy S. Temporal characterization of Alzheimer's Disease with sequences of clinical records. eBioMedicine 2023;92:104629 View
  169. Moscati A, Faucon A, Arnaiz‐Yépez C, Lönn S, Sundquist J, Sundquist K, Belbin G, Nadkarni G, Cho J, Loos R, Davis L, Kendler K. Life is pain: Fibromyalgia as a nexus of multiple liability distributions. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 2023;192(7-8):171 View
  170. Sneed N, Heerman W, Shaw P, Han K, Chen T, Bian A, Pugh S, Duda S, Lumley T, Shepherd B. Associations Between Gestational Weight Gain, Gestational Diabetes, and Childhood Obesity Incidence. Maternal and Child Health Journal 2024;28(2):372 View
  171. Avery C, Howard A, Lee H, Downie C, Lee M, Koenigsberg S, Ballou A, Preuss M, Raffield L, Yarosh R, North K, Gordon-Larsen P, Graff M. Branched chain amino acids harbor distinct and often opposing effects on health and disease. Communications Medicine 2023;3(1) View
  172. Grabowska M, Van Driest S, Robinson J, Patrick A, Guardo C, Gangireddy S, Ong H, Feng Q, Carroll R, Kannankeril P, Wei W. Developing and evaluating pediatric phecodes (Peds-Phecodes) for high-throughput phenotyping using electronic health records. Journal of the American Medical Informatics Association 2024;31(2):386 View
  173. Kerley C, Nguyen T, Ramadass K, Cutting L, Landman B, Berger M. pyPheWAS Explorer: a visualization tool for exploratory analysis of phenome-disease associations. JAMIA Open 2023;6(1) View
  174. Gill D, Zagkos L, Gill R, Benzing T, Jordan J, Birkenfeld A, Burgess S, Zahn G. The citrate transporter SLC13A5 as a therapeutic target for kidney disease: evidence from Mendelian randomization to inform drug development. BMC Medicine 2023;21(1) View
  175. Cade B, Redline S. Heritability and genetic correlations for sleep apnea, insomnia, and hypersomnia in a large clinical biobank. Sleep Health 2024;10(1):S157 View
  176. Papanastasiou G, Yang G, Fotiadis D, Dikaios N, Wang C, Huda A, Sobolevsky L, Raasch J, Perez E, Sidhu G, Palumbo D. Large-scale deep learning analysis to identify adult patients at risk for combined and common variable immunodeficiencies. Communications Medicine 2023;3(1) View
  177. Meah S, Shi X, Fritsche L, Salvatore M, Wagner A, Martin E, Mukherjee B. Design and analysis heterogeneity in observational studies of COVID-19 booster effectiveness: A review and case study. Science Advances 2023;9(51) View
  178. Morris D, Wang C, Papanastasiou G, Gray C, Xu W, Sjostrom S, Badr S, Paccou J, Semple S, MacGillivray T, Cawthorn W. A novel deep learning method for large-scale analysis of bone marrow adiposity using UK Biobank Dixon MRI data. Computational and Structural Biotechnology Journal 2023 View
  179. Wiley L, Shortt J, Roberts E, Lowery J, Kudron E, Lin M, Mayer D, Wilson M, Brunetti T, Chavan S, Phang T, Pozdeyev N, Lesny J, Wicks S, Moore E, Morgenstern J, Roff A, Shalowitz E, Stewart A, Williams C, Edelmann M, Hull M, Patton J, Axell L, Ku L, Lee Y, Jirikowic J, Tanaka A, Todd E, White S, Peterson B, Hearst E, Zane R, Greene C, Mathias R, Coors M, Taylor M, Ghosh D, Kahn M, Brooks I, Aquilante C, Kao D, Rafaels N, Crooks K, Hess S, Barnes K, Gignoux C. Building a vertically integrated genomic learning health system: The biobank at the Colorado Center for Personalized Medicine. The American Journal of Human Genetics 2024;111(1):11 View
  180. Schaeffer H, Smelser D, Rao H, Haley J, Long K, Slipak S, Carey D, Hoffman R. Development of a Polygenic Risk Score to Predict Diverticulitis. Diseases of the Colon & Rectum 2024;67(2):254 View
  181. Zhao J, Cato L, Arora U, Bao E, Bryant S, Williams N, Jia Y, Goldman S, Nangalia J, Erb M, Vos S, Armstrong S, Sankaran V. Inherited blood cancer predisposition through altered transcription elongation. Cell 2024;187(3):642 View
  182. Astore C, Gibson G. Integrative polygenic analysis of the protective effects of fatty acid metabolism on disease as modified by obesity. Frontiers in Nutrition 2024;10 View
  183. Kim J, Lee S, Lee J, Yoon S, Kim E, Lee E, Kim N, Lee S, Gym H, Park S. Effects of uric acid on ischemic diseases, stratified by lipid levels: a drug-target, nonlinear Mendelian randomization study. Scientific Reports 2024;14(1) View
  184. Zekavat S, Jorshery S, Rauscher F, Horn K, Sekimitsu S, Koyama S, Nguyen T, Costanzo M, Jang D, Burtt N, Kühnapfel A, Shweikh Y, Ye Y, Raghu V, Zhao H, Ghassemi M, Elze T, Segrè A, Wiggs J, Del Priore L, Scholz M, Wang J, Natarajan P, Zebardast N. Phenome- and genome-wide analyses of retinal optical coherence tomography images identify links between ocular and systemic health. Science Translational Medicine 2024;16(731) View
  185. Zeng C, Schlueter D, Tran T, Babbar A, Cassini T, Bastarache L, Denny J. Comparison of phenomic profiles in the All of Us Research Program against the US general population and the UK Biobank. Journal of the American Medical Informatics Association 2024;31(4):846 View
  186. Wei W, Rowley R, Wood A, MacArthur J, Embi P, Denaxas S. Improving reporting standards for phenotyping algorithm in biomedical research: 5 fundamental dimensions. Journal of the American Medical Informatics Association 2024;31(4):1036 View
  187. Boltz T, Schwarz T, Bot M, Hou K, Caggiano C, Lapinska S, Duan C, Boks M, Kahn R, Zaitlen N, Pasaniuc B, Ophoff R. Cell-type deconvolution of bulk-blood RNA-seq reveals biological insights into neuropsychiatric disorders. The American Journal of Human Genetics 2024;111(2):323 View
  188. Zhang Y, Golbus J, Wittrup E, Aaronson K, Najarian K. Enhancing heart failure treatment decisions: interpretable machine learning models for advanced therapy eligibility prediction using EHR data. BMC Medical Informatics and Decision Making 2024;24(1) View
  189. Whyne E, Choi S, Dowell J, Conzen S, Jeon-Slaughter H. Ten-year atherosclerotic cardiovascular disease risk trajectories among women veteran cancer patients. npj Women's Health 2024;2(1) View
  190. Tang A, Rankin K, Cerono G, Miramontes S, Mills H, Roger J, Zeng B, Nelson C, Soman K, Woldemariam S, Li Y, Lee A, Bove R, Glymour M, Aghaeepour N, Oskotsky T, Miller Z, Allen I, Sanders S, Baranzini S, Sirota M. Leveraging electronic health records and knowledge networks for Alzheimer’s disease prediction and sex-specific biological insights. Nature Aging 2024;4(3):379 View
  191. Zagkos L, Cronjé H, Woolf B, de La Harpe R, Burgess S, Mantzoros C, Elliott P, Yuan S, Larsson S, Tzoulaki I, Gill D. Genetic investigation into the broad health implications of caffeine: evidence from phenome-wide, proteome-wide and metabolome-wide Mendelian randomization. BMC Medicine 2024;22(1) View
  192. Prapiadou S, Živković L, Thorand B, George M, van der Laan S, Malik R, Herder C, Koenig W, Ueland T, Kleveland O, Aukrust P, Gullestad L, Bernhagen J, Pasterkamp G, Peters A, Hingorani A, Rosand J, Dichgans M, Anderson C, Georgakis M. Proteogenomic Data Integration Reveals CXCL10 as a Potentially Downstream Causal Mediator for IL-6 Signaling on Atherosclerosis. Circulation 2024;149(9):669 View
  193. Hegelund E, Mehta A, Andersen Z, Lim Y, Loft S, Brunekreef B, Hoek G, de Hoogh K, Mortensen L. Air pollution and human health: a phenome-wide association study. BMJ Open 2024;14(2):e081351 View
  194. Zhuang Y, Dyas A, Meguid R, Henderson W, Bronsert M, Madsen H, Colborn K. Preoperative Prediction of Postoperative Infections Using Machine Learning and Electronic Health Record Data. Annals of Surgery 2024;279(4):720 View
  195. Yan C, Zhang Z, Nyemba S, Li Z. Generating Synthetic Electronic Health Record Data Using Generative Adversarial Networks: Tutorial. JMIR AI 2024;3:e52615 View
  196. Papadopoulou A, Harding D, Slabaugh G, Marouli E, Deloukas P. Prediction of atrial fibrillation and stroke using machine learning models in UK Biobank. Heliyon 2024;10(7):e28034 View
  197. Wang Y, Su B, Xie J, Garcia-Rizo C, Prieto-Alhambra D. Long-term risk of psychiatric disorder and psychotropic prescription after SARS-CoV-2 infection among UK general population. Nature Human Behaviour 2024;8(6):1076 View
  198. Li T, Xu K, Chada N, Chen H, Knight M, Antic S, Sandler K, Maldonado F, Landman B, Lasko T. Curating retrospective multimodal and longitudinal data for community cohorts at risk for lung cancer. Cancer Biomarkers 2024:1 View
  199. Sanchez-Ruiz J, Coombes B, Pazdernik V, Melhuish Beaupre L, Jenkins G, Pendegraft R, Batzler A, Ozerdem A, McElroy S, Gardea-Resendez M, Cuellar-Barboza A, Prieto M, Frye M, Biernacka J. Clinical and genetic contributions to medical comorbidity in bipolar disorder: a study using electronic health records-linked biobank data. Molecular Psychiatry 2024 View
  200. Woerner J, Sriram V, Nam Y, Verma A, Kim D, Martelli P. Uncovering genetic associations in the human diseasome using an endophenotype-augmented disease network. Bioinformatics 2024;40(3) View
  201. Te T, Keenan B, Veatch O, Boland M, Hubbard R, Pack A. Identifying clusters of patient comorbidities associated with obstructive sleep apnea using electronic health records. Journal of Clinical Sleep Medicine 2024;20(4):521 View
  202. Cirulli E, Schiabor Barrett K, Bolze A, Judge D, Pawloski P, Grzymski J, Lee W, Washington N. A power-based sliding window approach to evaluate the clinical impact of rare genetic variants in the nucleotide sequence or the spatial position of the folded protein. Human Genetics and Genomics Advances 2024;5(3):100284 View
  203. Yan C, Ong H, Grabowska M, Krantz M, Su W, Dickson A, Peterson J, Feng Q, Roden D, Stein C, Kerchberger V, Malin B, Wei W. Large language models facilitate the generation of electronic health record phenotyping algorithms. Journal of the American Medical Informatics Association 2024 View
  204. Zambrano Chaves J, Lenchik L, Gallegos I, Blankemeier L, Liang T, Rubin D, Willis M, Chaudhari A, Boutin R. Abdominal CT metrics in 17,646 patients reveal associations between myopenia, myosteatosis, and medical phenotypes: a phenome-wide association study. eBioMedicine 2024;103:105116 View
  205. Mosley J, Shelley J, Dickson A, Zanussi J, Daniel L, Zheng N, Bastarache L, Wei W, Shi M, Jarvik G, Rosenthal E, Khan A, Sherafati A, Kullo I, Walunas T, Glessner J, Hakonarson H, Cox N, Roden D, Frangakis S, Vanderwerff B, Stein C, Van Driest S, Borinstein S, Shu X, Zawistowski M, Chung C, Kawai V. Clinical associations with a polygenic predisposition to benign lower white blood cell counts. Nature Communications 2024;15(1) View
  206. Johnson R, Stephens A, Mester R, Knyazev S, Kohn L, Freund M, Bondhus L, Hill B, Schwarz T, Zaitlen N, Arboleda V, A. Bastarache L, Pasaniuc B, Butte M. Electronic health record signatures identify undiagnosed patients with common variable immunodeficiency disease. Science Translational Medicine 2024;16(745) View
  207. Løkhammer S, Koller D, Wendt F, Choi K, He J, Friligkou E, Overstreet C, Gelernter J, Hellard S, Polimanti R. Distinguishing vulnerability and resilience to posttraumatic stress disorder evaluating traumatic experiences, genetic risk and electronic health records. Psychiatry Research 2024;337:115950 View
  208. Kars M, Wu Y, Stenson P, Cooper D, Burisch J, Peter I, Itan Y. The landscape of rare genetic variation associated with inflammatory bowel disease and Parkinson’s disease comorbidity. Genome Medicine 2024;16(1) View
  209. Moix S, Sadler M, Kutalik Z, Auwerx C. Breaking down causes, consequences, and mediating effects of telomere length variation on human health. Genome Biology 2024;25(1) View
  210. Steinfeldt J, Wild B, Buergel T, Pietzner M, Upmeier zu Belzen J, Vauvelle A, Hegselmann S, Denaxas S, Hemingway H, Langenberg C, Landmesser U, Deanfield J, Eils R. Medical history predicts phenome-wide disease onset and enables the rapid response to emerging health threats. Nature Communications 2024;15(1) View
  211. Shang H, Ding Y, Venkateswaran V, Boulier K, Kathuria-Prakash N, Malidarreh P, Luber J, Pasaniuc B. Generalizability of PGS313 for breast cancer risk in a Los Angeles biobank. Human Genetics and Genomics Advances 2024;5(3):100302 View
  212. Nauffal V, Klarqvist M, Hill M, Pace D, Di Achille P, Choi S, Rämö J, Pirruccello J, Singh P, Kany S, Hou C, Ng K, Philippakis A, Batra P, Lubitz S, Ellinor P. Noninvasive assessment of organ-specific and shared pathways in multi-organ fibrosis using T1 mapping. Nature Medicine 2024;30(6):1749 View
  213. Hicks E, Niarchou M, Goleva S, Kabir D, Johnson J, Johnston K, Ciarcia J, Pathak G, Smoller J, Davis L, Nievergelt C, Koenen K, Huckins L, Choi K. Comorbidity Profiles of Posttraumatic Stress Disorder Across the Medical Phenome. Biological Psychiatry Global Open Science 2024;4(5):100337 View
  214. Perry A, Farber-Eger E, Gonzales T, Tanaka T, Robbins J, Murthy V, Stolze L, Zhao S, Huang S, Colangelo L, Deng S, Hou L, Lloyd-Jones D, Walker K, Ferrucci L, Watts E, Barber J, Rao P, Mi M, Gabriel K, Hornikel B, Sidney S, Houstis N, Lewis G, Liu G, Thyagarajan B, Khan S, Choi B, Washko G, Kalhan R, Wareham N, Bouchard C, Sarzynski M, Gerszten R, Brage S, Wells Q, Nayor M, Shah R. Proteomic analysis of cardiorespiratory fitness for prediction of mortality and multisystem disease risks. Nature Medicine 2024;30(6):1711 View
  215. Carey C, Shafee R, Wedow R, Elliott A, Palmer D, Compitello J, Kanai M, Abbott L, Schultz P, Karczewski K, Bryant S, Cusick C, Churchhouse C, Howrigan D, King D, Davey Smith G, Neale B, Walters R, Robinson E. Principled distillation of UK Biobank phenotype data reveals underlying structure in human variation. Nature Human Behaviour 2024 View
  216. Gilliland T, Dron J, Selvaraj M, Trinder M, Paruchuri K, Urbut S, Haidermota S, Bernardo R, Uddin M, Honigberg M, Peloso G, Natarajan P. Genetic Architecture and Clinical Outcomes of Combined Lipid Disturbances. Circulation Research 2024;135(2):265 View
  217. Khan A, Unlu G, Lin P, Liu Y, Kilic E, Kenny T, Birsoy K, Gamazon E. Metabolic gene function discovery platform GeneMAP identifies SLC25A48 as necessary for mitochondrial choline import. Nature Genetics 2024 View
  218. Pietzner M, Denaxas S, Yasmeen S, Ulmer M, Nakanishi T, Arnold M, Kastenmüller G, Hemingway H, Langenberg C. Complex patterns of multimorbidity associated with severe COVID-19 and long COVID. Communications Medicine 2024;4(1) View
  219. Yang L, Ou Y, Wu B, Liu W, Deng Y, He X, Chen Y, Kang J, Fei C, Zhu Y, Tan L, Dong Q, Feng J, Cheng W, Yu J. Large-scale whole-exome sequencing analyses identified protein-coding variants associated with immune-mediated diseases in 350,770 adults. Nature Communications 2024;15(1) View
  220. Zheng N, Annis J, Master H, Han L, Gleichauf K, Ching J, Nasser M, Coleman P, Desine S, Ruderfer D, Hernandez J, Schneider L, Brittain E. Sleep patterns and risk of chronic disease as measured by long-term monitoring with commercial wearable devices in the All of Us Research Program. Nature Medicine 2024 View

Books/Policy Documents

  1. Zhao J, Feng Q, Wei W. Systems Medicine. View
  2. Chen E. Mental Health Informatics. View
  3. Vauvelle A, Tomlinson H, Sim A, Denaxas S. Multimodal AI in Healthcare. View
  4. Denaxas S, Stoeckert C. Clinical Applications of Artificial Intelligence in Real-World Data. View