Hughey JJ - Search Results

1

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.

2

Live-cell measurements of kinase activity in single cells using translocation reporters.

Kudo T, Jeknić S, Macklin DN, Akhter S, Hughey JJ, Regot S, Covert MW. Kudo T, et al. Among authors: hughey jj. Nat Protoc. 2018 Jan;13(1):155-169. doi: 10.1038/nprot.2017.128. Epub 2017 Dec 21. Nat Protoc. 2018. PMID: 29266096

3

The microfluidic multitrap nanophysiometer for hematologic cancer cell characterization reveals temporal sensitivity of the calcein-AM efflux assay.

Byrd TF 4th, Hoang LT, Kim EG, Pfister ME, Werner EM, Arndt SE, Chamberlain JW, Hughey JJ, Nguyen BA, Schneibel EJ, Wertz LL, Whitfield JS, Wikswo JP, Seale KT. Byrd TF 4th, et al. Among authors: hughey jj. Sci Rep. 2014 May 30;4:5117. doi: 10.1038/srep05117. Sci Rep. 2014. PMID: 24873950 Free PMC article.

4

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.

5

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.

6

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.

7

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.

8

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.

9

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.

10

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.

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