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Page 1
Genetic sex validation for sample tracking in next-generation sequencing clinical testing.
Hu J, Korchina V, Zouk H, Harden MV, Murdock D, Macbeth A, Harrison SM, Lennon N, Kovar C, Balasubramanian A, Zhang L, Chandanavelli G, Pasham D, Rowley R, Wiley K, Smith ME, Gordon A, Jarvik GP, Sleiman P, Kelly MA, Bland HT, Murugan M, Venner E, Boerwinkle E; eMERGE III consortium; Prows C, Mahanta L, Rehm HL, Gibbs RA, Muzny DM. Hu J, et al. BMC Res Notes. 2024 Mar 3;17(1):62. doi: 10.1186/s13104-024-06723-w. BMC Res Notes. 2024. PMID: 38433186 Free PMC article.
Distal chromosome 16p11.2 duplications containing SH2B1 in patients with scoliosis.
Sadler B, Haller G, Antunes L, Bledsoe X, Morcuende J, Giampietro P, Raggio C, Miller N, Kidane Y, Wise CA, Amarillo I, Walton N, Seeley M, Johnson D, Jenkins C, Jenkins T, Oetjens M, Tong RS, Druley TE, Dobbs MB, Gurnett CA. Sadler B, et al. J Med Genet. 2019 Jul;56(7):427-433. doi: 10.1136/jmedgenet-2018-105877. Epub 2019 Feb 25. J Med Genet. 2019. PMID: 30803986 Free PMC article.
Association of Genetic Risk of Obesity with Postoperative Complications Using Mendelian Randomization.
Robinson JR, Carroll RJ, Bastarache L, Chen Q, Mou Z, Wei WQ, Connolly JJ, Mentch F, Sleiman P, Crane PK, Hebbring SJ, Stanaway IB, Crosslin DR, Gordon AS, Rosenthal EA, Carrell D, Hayes MG, Wei W, Petukhova L, Namjou B, Zhang G, Safarova MS, Walton NA, Still C, Bottinger EP, Loos RJF, Murphy SN, Jackson GP, Kullo IJ, Hakonarson H, Jarvik GP, Larson EB, Weng C, Roden DM, Denny JC. Robinson JR, et al. Among authors: walton na. World J Surg. 2020 Jan;44(1):84-94. doi: 10.1007/s00268-019-05202-9. World J Surg. 2020. PMID: 31605180 Free PMC article.
Quantifying the phenome-wide disease burden of obesity using electronic health records and genomics.
Robinson JR, Carroll RJ, Bastarache L, Chen Q, Pirruccello J, Mou Z, Wei WQ, Connolly J, Mentch F, Crane PK, Hebbring SJ, Crosslin DR, Gordon AS, Rosenthal EA, Stanaway IB, Hayes MG, Wei W, Petukhova L, Namjou-Khales B, Zhang G, Safarova MS, Walton NA, Still C, Bottinger EP, Loos RJF, Murphy SN, Jackson GP, Abumrad N, Kullo IJ, Jarvik GP, Larson EB, Weng C, Roden D, Khera AV, Denny JC. Robinson JR, et al. Among authors: walton na. Obesity (Silver Spring). 2022 Dec;30(12):2477-2488. doi: 10.1002/oby.23561. Epub 2022 Nov 13. Obesity (Silver Spring). 2022. PMID: 36372681 Free PMC article.
Comorbidity Characterization Among eMERGE Institutions: A Pilot Evaluation with the Johns Hopkins Adjusted Clinical Groups® System.
Taylor CO, Lemke KW, Richards TM, Roe KD, He T, Arruda-Olson A, Carrell D, Denny JC, Hripcsak G, Kiryluk K, Kullo I, Larson EB, Peissig P, Walton NA, Wei-Qi W, Ye Z, Chute CG, Weiner JP. Taylor CO, et al. Among authors: walton na. AMIA Jt Summits Transl Sci Proc. 2019 May 6;2019:145-152. eCollection 2019. AMIA Jt Summits Transl Sci Proc. 2019. PMID: 31258966 Free PMC article.
User testing of a diagnostic decision support system with machine-assisted chart review to facilitate clinical genomic diagnosis.
Kulchak Rahm A, Walton NA, Feldman LK, Jenkins C, Jenkins T, Person TN, Peterson J, Reynolds JC, Robinson PN, Woltz MA, Williams MS, Segal MM. Kulchak Rahm A, et al. Among authors: walton na. BMJ Health Care Inform. 2021 May;28(1):e100331. doi: 10.1136/bmjhci-2021-100331. BMJ Health Care Inform. 2021. PMID: 33962988 Free PMC article.
Infobuttons for Genomic Medicine: Requirements and Barriers.
Rasmussen LV, Connolly JJ, Del Fiol G, Freimuth RR, Pet DB, Peterson JF, Shirts BH, Starren JB, Williams MS, Walton N, Taylor CO. Rasmussen LV, et al. Appl Clin Inform. 2021 Mar;12(2):383-390. doi: 10.1055/s-0041-1729164. Epub 2021 May 12. Appl Clin Inform. 2021. PMID: 33979874 Free PMC article.
Under-specification as the source of ambiguity and vagueness in narrative phenotype algorithm definitions.
Yu J, Pacheco JA, Ghosh AS, Luo Y, Weng C, Shang N, Benoit B, Carrell DS, Carroll RJ, Dikilitas O, Freimuth RR, Gainer VS, Hakonarson H, Hripcsak G, Kullo IJ, Mentch F, Murphy SN, Peissig PL, Ramirez AH, Walton N, Wei WQ, Rasmussen LV. Yu J, et al. BMC Med Inform Decis Mak. 2022 Jan 28;22(1):23. doi: 10.1186/s12911-022-01759-z. BMC Med Inform Decis Mak. 2022. PMID: 35090449 Free PMC article.
57 results