Hughey JJ - Search Results

1

Phenotype risk scores identify patients with unrecognized Mendelian disease patterns.

Bastarache L, Hughey JJ, Hebbring S, Marlo J, Zhao W, Ho WT, Van Driest SL, McGregor TL, Mosley JD, Wells QS, Temple M, Ramirez AH, Carroll R, Osterman T, Edwards T, Ruderfer D, Velez Edwards DR, Hamid R, Cogan J, Glazer A, Wei WQ, Feng Q, Brilliant M, Zhao ZJ, Cox NJ, Roden DM, Denny JC. Bastarache L, et al. Among authors: hughey jj. Science. 2018 Mar 16;359(6381):1233-1239. doi: 10.1126/science.aal4043. Science. 2018. PMID: 29590070 Free PMC article.

2

Pulling the covers in electronic health records for an association study with self-reported sleep behaviors.

Rhoades SD, Bastarache L, Denny JC, Hughey JJ. Rhoades SD, et al. Among authors: hughey jj. Chronobiol Int. 2018 Nov;35(12):1702-1712. doi: 10.1080/07420528.2018.1508152. Epub 2018 Sep 5. Chronobiol Int. 2018. PMID: 30183400 Free PMC article.

3

Improving the phenotype risk score as a scalable approach to identifying patients with Mendelian disease.

Bastarache L, Hughey JJ, Goldstein JA, Bastraache JA, Das S, Zaki NC, Zeng C, Tang LA, Roden DM, Denny JC. Bastarache L, et al. Among authors: hughey jj. J Am Med Inform Assoc. 2019 Dec 1;26(12):1437-1447. doi: 10.1093/jamia/ocz179. J Am Med Inform Assoc. 2019. PMID: 31609419 Free PMC article.

4

Cox regression increases power to detect genotype-phenotype associations in genomic studies using the electronic health record.

Hughey JJ, Rhoades SD, Fu DY, Bastarache L, Denny JC, Chen Q. Hughey JJ, et al. BMC Genomics. 2019 Nov 4;20(1):805. doi: 10.1186/s12864-019-6192-1. BMC Genomics. 2019. PMID: 31684865 Free PMC article.

5

The Role of Electronic Health Records in Advancing Genomic Medicine.

Linder JE, Bastarache L, Hughey JJ, Peterson JF. Linder JE, et al. Among authors: hughey jj. Annu Rev Genomics Hum Genet. 2021 Aug 31;22:219-238. doi: 10.1146/annurev-genom-121120-125204. Epub 2021 May 26. Annu Rev Genomics Hum Genet. 2021. PMID: 34038146 Free PMC article. Review.

6

Cox regression is robust to inaccurate EHR-extracted event time: an application to EHR-based GWAS.

Irlmeier R, Hughey JJ, Bastarache L, Denny JC, Chen Q. Irlmeier R, et al. Among authors: hughey jj. Bioinformatics. 2022 Apr 12;38(8):2297-2306. doi: 10.1093/bioinformatics/btac086. Bioinformatics. 2022. PMID: 35157022 Free PMC article.

7

The phers R package: using phenotype risk scores based on electronic health records to study Mendelian disease and rare genetic variants.

Aref L, Bastarache L, Hughey JJ. Aref L, et al. Among authors: hughey jj. Bioinformatics. 2022 Oct 31;38(21):4972-4974. doi: 10.1093/bioinformatics/btac619. Bioinformatics. 2022. PMID: 36083022 Free PMC article.

8

The phenotype-genotype reference map: Improving biobank data science through replication.

Bastarache L, Delozier S, Pandit A, He J, Lewis A, Annis AC, LeFaive J, Denny JC, Carroll RJ, Altman RB, Hughey JJ, Zawistowski M, Peterson JF. Bastarache L, et al. Among authors: hughey jj. Am J Hum Genet. 2023 Sep 7;110(9):1522-1533. doi: 10.1016/j.ajhg.2023.07.012. Epub 2023 Aug 21. Am J Hum Genet. 2023. PMID: 37607538 Free PMC article.

9

A Computational Approach to Identify Interfering Medications on Urine Drug Screening Assays without Data from Confirmatory Testing.

Ayala-Lopez N, Aref L, Colby JM, Hughey JJ. Ayala-Lopez N, et al. Among authors: hughey jj. J Anal Toxicol. 2021 Apr 12;45(4):325-330. doi: 10.1093/jat/bkaa140. J Anal Toxicol. 2021. PMID: 32991692 Free PMC article.

10

Analysis of Electronic Health Records Reveals Medication-Related Interference on Point-of-Care Urine Drug Screening Assays.

Ayala-Lopez N, Colby JM, Hughey JJ. Ayala-Lopez N, et al. Among authors: hughey jj. J Anal Toxicol. 2022 Feb 14;46(1):99-102. doi: 10.1093/jat/bkaa179. J Anal Toxicol. 2022. PMID: 33216907 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

47 results

Search Page

Filters