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Page 1
Harmonizing Clinical Sequencing and Interpretation for the eMERGE III Network.
eMERGE Consortium. Electronic address: agibbs@bcm.edu; eMERGE Consortium. eMERGE Consortium. Electronic address: agibbs@bcm.edu, et al. Am J Hum Genet. 2019 Sep 5;105(3):588-605. doi: 10.1016/j.ajhg.2019.07.018. Epub 2019 Aug 22. Am J Hum Genet. 2019. PMID: 31447099 Free PMC article.
Returning integrated genomic risk and clinical recommendations: The eMERGE study.
Linder JE, Allworth A, Bland HT, Caraballo PJ, Chisholm RL, Clayton EW, Crosslin DR, Dikilitas O, DiVietro A, Esplin ED, Forman S, Freimuth RR, Gordon AS, Green R, Harden MV, Holm IA, Jarvik GP, Karlson EW, Labrecque S, Lennon NJ, Limdi NA, Mittendorf KF, Murphy SN, Orlando L, Prows CA, Rasmussen LV, Rasmussen-Torvik L, Rowley R, Sawicki KT, Schmidlen T, Terek S, Veenstra D, Velez Edwards DR, Absher D, Abul-Husn NS, Alsip J, Bangash H, Beasley M, Below JE, Berner ES, Booth J, Chung WK, Cimino JJ, Connolly J, Davis P, Devine B, Fullerton SM, Guiducci C, Habrat ML, Hain H, Hakonarson H, Harr M, Haverfield E, Hernandez V, Hoell C, Horike-Pyne M, Hripcsak G, Irvin MR, Kachulis C, Karavite D, Kenny EE, Khan A, Kiryluk K, Korf B, Kottyan L, Kullo IJ, Larkin K, Liu C, Malolepsza E, Manolio TA, May T, McNally EM, Mentch F, Miller A, Mooney SD, Murali P, Mutai B, Muthu N, Namjou B, Perez EF, Puckelwartz MJ, Rakhra-Burris T, Roden DM, Rosenthal EA, Saadatagah S, Sabatello M, Schaid DJ, Schultz B, Seabolt L, Shaibi GQ, Sharp RR, Shirts B, Smith ME, Smoller JW, Sterling R, Suckiel SA, Thayer J, Tiwari HK, Trinidad SB, Walunas T, Wei WQ, Wells QS, Weng C, Wiesner GL, Wiley K; eMERGE Con… See abstract for full author list ➔ Linder JE, et al. Among authors: hoell c. Genet Med. 2023 Apr;25(4):100006. doi: 10.1016/j.gim.2023.100006. Epub 2023 Jan 6. Genet Med. 2023. PMID: 36621880 Free article.
Neptune: an environment for the delivery of genomic medicine.
Eric V, Yi V, Murdock D, Kalla SE, Wu TJ, Sabo A, Li S, Meng Q, Tian X, Murugan M, Cohen M, Kovar C, Wei WQ, Chung WK, Weng C, Wiesner GL, Jarvik GP, Muzny D, Gibbs RA; eMERGE Consortium. Eric V, et al. Genet Med. 2021 Oct;23(10):1838-1846. doi: 10.1038/s41436-021-01230-w. Epub 2021 Jul 13. Genet Med. 2021. PMID: 34257418 Free PMC article.
Do research participants share genomic screening results with family members?
Wynn J, Milo Rasouly H, Vasquez-Loarte T, Saami AM, Weiss R, Ziniel SI, Appelbaum PS, Wright Clayton E, Christensen KD, Fasel D, Green RC, Hain HS, Harr M, Hoell C, Kullo IJ, Leppig KA, Myers MF, Pacyna JE, Perez EF, Prows CA, Kulchak Rahm A, Campbell-Salome G, Sharp RR, Smith ME, Wiesner GL, Williams JL, Blout Zawatsky CL, Gharavi AG, Chung WK, Holm IA. Wynn J, et al. Among authors: hoell c. J Genet Couns. 2022 Apr;31(2):447-458. doi: 10.1002/jgc4.1511. Epub 2021 Oct 19. J Genet Couns. 2022. PMID: 34665896 Free PMC article.
The reckoning: The return of genomic results to 1444 participants across the eMERGE3 Network.
Leppig KA, Kulchak Rahm A, Appelbaum P, Aufox S, Bland HT, Buchanan A, Christensen KD, Chung WK, Clayton EW, Crosslin D, Denny J, DeVange S, Gordon A, Green RC, Hakonarson H, Harr MH, Henrikson N, Hoell C, Holm IA, Kullo IJ, Jarvik GP, Lammers PE, Larson EB, Lindor NM, Marasa M, Myers MF, Perez E, Peterson JF, Pratap S, Prows CA, Ralston JD, Rasouly HM, Roden DM, Sharp RR, Singh R, Shaibi G, Smith ME, Sturm A, Thiese HA, Van Driest SL, Williams J, Williams MS, Wynn J, Blout Zawatsky CL, Wiesner GL. Leppig KA, et al. Among authors: hoell c. Genet Med. 2022 May;24(5):1130-1138. doi: 10.1016/j.gim.2022.01.015. Epub 2022 Feb 23. Genet Med. 2022. PMID: 35216901 Free PMC article.
Penetrance of Breast Cancer Susceptibility Genes From the eMERGE III Network.
Fan X, Wynn J, Shang N, Liu C, Fedotov A, Hallquist MLG, Buchanan AH, Williams MS, Smith ME, Hoell C, Rasmussen-Torvik LJ, Peterson JF, Wiesner GL, Murad AM, Jarvik GP, Gordon AS, Rosenthal EA, Stanaway IB, Crosslin DR, Larson EB, Leppig KA, Henrikson NB, Williams JL, Li R, Hebbring S, Weng C, Shen Y, Crew KD, Chung WK. Fan X, et al. Among authors: hoell c. JNCI Cancer Spectr. 2021 May 8;5(4):pkab044. doi: 10.1093/jncics/pkab044. eCollection 2021 Aug. JNCI Cancer Spectr. 2021. PMID: 34377931 Free PMC article.
Prospective, multi-site study of healthcare utilization after actionable monogenic findings from clinical sequencing.
Linder JE, Tao R, Chung WK, Kiryluk K, Liu C, Weng C, Connolly JJ, Hakonarson H, Harr M, Leppig KA, Jarvik GP, Veenstra DL, Aufox S, Chisholm RL, Gordon AS, Hoell C, Rasmussen-Torvik LJ, Smith ME, Holm IA, Miller EM, Prows CA, Elskeally O, Kullo IJ, Lee C, Jose S, Manolio TA, Rowley R, Padi-Adjirackor NA, Wilmayani NK, City B, Wei WQ, Wiesner GL, Rahm AK, Williams JL, Williams MS, Peterson JF. Linder JE, et al. Among authors: hoell c. Am J Hum Genet. 2023 Nov 2;110(11):1950-1958. doi: 10.1016/j.ajhg.2023.10.006. Epub 2023 Oct 25. Am J Hum Genet. 2023. PMID: 37883979
Participant choices for return of genomic results in the eMERGE Network.
Hoell C, Wynn J, Rasmussen LV, Marsolo K, Aufox SA, Chung WK, Connolly JJ, Freimuth RR, Kochan D, Hakonarson H, Harr M, Holm IA, Kullo IJ, Lammers PE, Leppig KA, Leslie ND, Myers MF, Sharp RR, Smith ME, Prows CA. Hoell C, et al. Genet Med. 2020 Nov;22(11):1821-1829. doi: 10.1038/s41436-020-0905-3. Epub 2020 Jul 16. Genet Med. 2020. PMID: 32669677 Free PMC article.
Practice Patterns After Return of Rare Variants Associated With Cardiomyopathy in the Electronic Medical Records and Genomics Network.
Khan SS, Hoell C, Castillo LM, Connolly JJ, Crosslin DR, Chung WK, Gordon AS, Harr M, Jarvik GP, Kullo I, Larson EB, Leppig KA, Manolio T, Pacheco JA, Ralston JD, Puckelwartz MJ, Smith ME, Wells Q, McNally EM, Rasmussen-Torvik LJ. Khan SS, et al. Among authors: hoell c. Circ Heart Fail. 2021 May;14(5):e008155. doi: 10.1161/CIRCHEARTFAILURE.120.008155. Epub 2021 May 6. Circ Heart Fail. 2021. PMID: 33951936 Free PMC article. No abstract available.
19 results