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Page 1
Disease Heritability Inferred from Familial Relationships Reported in Medical Records.
Polubriaginof FCG, Vanguri R, Quinnies K, Belbin GM, Yahi A, Salmasian H, Lorberbaum T, Nwankwo V, Li L, Shervey MM, Glowe P, Ionita-Laza I, Simmerling M, Hripcsak G, Bakken S, Goldstein D, Kiryluk K, Kenny EE, Dudley J, Vawdrey DK, Tatonetti NP. Polubriaginof FCG, et al. Among authors: kiryluk k. Cell. 2018 Jun 14;173(7):1692-1704.e11. doi: 10.1016/j.cell.2018.04.032. Epub 2018 May 17. Cell. 2018. PMID: 29779949 Free PMC article.
Deep Phenotyping on Electronic Health Records Facilitates Genetic Diagnosis by Clinical Exomes.
Son JH, Xie G, Yuan C, Ena L, Li Z, Goldstein A, Huang L, Wang L, Shen F, Liu H, Mehl K, Groopman EE, Marasa M, Kiryluk K, Gharavi AG, Chung WK, Hripcsak G, Friedman C, Weng C, Wang K. Son JH, et al. Among authors: kiryluk k. Am J Hum Genet. 2018 Jul 5;103(1):58-73. doi: 10.1016/j.ajhg.2018.05.010. Epub 2018 Jun 28. Am J Hum Genet. 2018. PMID: 29961570 Free PMC article.
Harmonizing Outcomes for Genomic Medicine: Comparison of eMERGE Outcomes to ClinGen Outcome/Intervention Pairs.
Williams JL, Chung WK, Fedotov A, Kiryluk K, Weng C, Connolly JJ, Harr M, Hakonarson H, Leppig KA, Larson EB, Jarvik GP, Veenstra DL, Hoell C, Smith ME, Holm IA, Peterson JF, Williams MS. Williams JL, et al. Among authors: kiryluk k. Healthcare (Basel). 2018 Jul 13;6(3):83. doi: 10.3390/healthcare6030083. Healthcare (Basel). 2018. PMID: 30011878 Free PMC article.
Diagnostic Utility of Exome Sequencing for Kidney Disease.
Groopman EE, Marasa M, Cameron-Christie S, Petrovski S, Aggarwal VS, Milo-Rasouly H, Li Y, Zhang J, Nestor J, Krithivasan P, Lam WY, Mitrotti A, Piva S, Kil BH, Chatterjee D, Reingold R, Bradbury D, DiVecchia M, Snyder H, Mu X, Mehl K, Balderes O, Fasel DA, Weng C, Radhakrishnan J, Canetta P, Appel GB, Bomback AS, Ahn W, Uy NS, Alam S, Cohen DJ, Crew RJ, Dube GK, Rao MK, Kamalakaran S, Copeland B, Ren Z, Bridgers J, Malone CD, Mebane CM, Dagaonkar N, Fellström BC, Haefliger C, Mohan S, Sanna-Cherchi S, Kiryluk K, Fleckner J, March R, Platt A, Goldstein DB, Gharavi AG. Groopman EE, et al. Among authors: kiryluk k. N Engl J Med. 2019 Jan 10;380(2):142-151. doi: 10.1056/NEJMoa1806891. Epub 2018 Dec 26. N Engl J Med. 2019. PMID: 30586318 Free PMC article.
Evaluation of the cost and effectiveness of diverse recruitment methods for a genetic screening study.
Milo Rasouly H, Wynn J, Marasa M, Reingold R, Chatterjee D, Kapoor S, Piva S, Kil BH, Mu X, Alvarez M, Nestor J, Mehl K, Revah-Politi A, Lippa N, Ernst ME, Bier L, Espinal A, Haser B, Sinha A, Halim I, Fasel D, Cuneo N, Thompson JJ, Verbitsky M, Cohn EG, Goldman J, Marder K, Klitzman RL, Orjuela MA, So YS, Fedotov A, Crew KD, Kiryluk K, Appelbaum PS, Weng C, Siegel K, Gharavi AG, Chung WK. Milo Rasouly H, et al. Among authors: kiryluk k. Genet Med. 2019 Oct;21(10):2371-2380. doi: 10.1038/s41436-019-0497-y. Epub 2019 Apr 1. Genet Med. 2019. PMID: 30930462 Free PMC article.
Correction: Evaluation of the cost and effectiveness of diverse recruitment methods for a genetic screening study.
Rasouly HM, Wynn J, Marasa M, Reingold R, Chatterjee D, Kapoor S, Piva S, Kil BH, Mu X, Alvarez M, Nestor J, Mehl K, Revah-Politi A, Lippa N, Ernst ME, Bier L, Espinal A, Haser B, Sinha A, Halim I, Fasel D, Cuneo N, Thompson JJ, Verbitsky M, Cohn EG, Goldman J, Marder K, Klitzman RL, Orjuela MA, So YS, Fedotov A, Crew KD, Kiryluk K, Appelbaum PS, Weng C, Siegel K, Gharavi AG, Chung WK. Rasouly HM, et al. Among authors: kiryluk k. Genet Med. 2019 Oct;21(10):2407. doi: 10.1038/s41436-019-0528-8. Genet Med. 2019. PMID: 31040387 Free PMC article.
Development and Validation of a Pragmatic Electronic Phenotype for CKD.
Norton JM, Ali K, Jurkovitz CT, Kiryluk K, Park M, Kawamoto K, Shang N, Navaneethan SD, Narva AS, Drawz P. Norton JM, et al. Among authors: kiryluk k. Clin J Am Soc Nephrol. 2019 Sep 6;14(9):1306-1314. doi: 10.2215/CJN.00360119. Epub 2019 Aug 12. Clin J Am Soc Nephrol. 2019. PMID: 31405830 Free PMC article.
Medical records-based chronic kidney disease phenotype for clinical care and "big data" observational and genetic studies.
Shang N, Khan A, Polubriaginof F, Zanoni F, Mehl K, Fasel D, Drawz PE, Carrol RJ, Denny JC, Hathcock MA, Arruda-Olson AM, Peissig PL, Dart RA, Brilliant MH, Larson EB, Carrell DS, Pendergrass S, Verma SS, Ritchie MD, Benoit B, Gainer VS, Karlson EW, Gordon AS, Jarvik GP, Stanaway IB, Crosslin DR, Mohan S, Ionita-Laza I, Tatonetti NP, Gharavi AG, Hripcsak G, Weng C, Kiryluk K. Shang N, et al. Among authors: kiryluk k. NPJ Digit Med. 2021 Apr 13;4(1):70. doi: 10.1038/s41746-021-00428-1. NPJ Digit Med. 2021. PMID: 33850243 Free PMC article.
Medical Records-Based Genetic Studies of the Complement System.
Khan A, Shang N, Petukhova L, Zhang J, Shen Y, Hebbring SJ, Moncrieffe H, Kottyan LC, Namjou-Khales B, Knevel R, Raychaudhuri S, Karlson EW, Harley JB, Stanaway IB, Crosslin D, Denny JC, Elkind MSV, Gharavi AG, Hripcsak G, Weng C, Kiryluk K. Khan A, et al. Among authors: kiryluk k. J Am Soc Nephrol. 2021 Aug;32(8):2031-2047. doi: 10.1681/ASN.2020091371. Epub 2021 May 3. J Am Soc Nephrol. 2021. PMID: 33941608 Free PMC article.
226 results