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Page 1
The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change.
Rehm HL, Alaimo JT, Aradhya S, Bayrak-Toydemir P, Best H, Brandon R, Buchan JG, Chao EC, Chen E, Clifford J, Cohen ASA, Conlin LK, Das S, Davis KW, Del Gaudio D, Del Viso F, DiVincenzo C, Eisenberg M, Guidugli L, Hammer MB, Harrison SM, Hatchell KE, Dyer LH, Hoang LU, Holt JM, Jobanputra V, Karbassi ID, Kearney HM, Kelly MA, Kelly JM, Kluge ML, Komala T, Kruszka P, Lau L, Lebo MS, Marshall CR, McKnight D, McWalter K, Meng Y, Nagan N, Neckelmann CS, Neerman N, Niu Z, Paolillo VK, Paolucci SA, Perry D, Pesaran T, Radtke K, Rasmussen KJ, Retterer K, Saunders CJ, Spiteri E, Stanley C, Szuto A, Taft RJ, Thiffault I, Thomas BC, Thomas-Wilson A, Thorpe E, Tidwell TJ, Towne MC, Zouk H; Medical Genome Initiative Steering Committee. Rehm HL, et al. Among authors: davis kw. Genet Med. 2023 Dec;25(12):100947. doi: 10.1016/j.gim.2023.100947. Epub 2023 Jul 30. Genet Med. 2023. PMID: 37534744 Free PMC article.
Return of genome-informed risk-assessment results for common conditions to 23,840 adults and children: An eMERGE network study.
Lawson LP, Prows CA, Cortopassi J, Davis KW, Head M, Martin LJ, Perez EF, Sobowale A, Abul-Husn NS, Bangash H, Bland HT, Bonini KE, Chisholm RL, Chung WK, Cimino JJ, Connolly JJ, Crosslin DR, Freimuth RR, Goff B, Gordon AS, Hakonarson H, Harr MH, Henricks E, Hernandez V, Hoell C, Holm IA, Hripcsak G, Karlson EW, Kenny EE, Khan A, Kiryluk K, Kottyan LC, Lennon NJ, Limdi N, Linder JE, Liu C, Manolio TA, Maradik MA, Marathe PN, Maripuri DP, McNally EM, Murphy SN, Naderian M, Namjou B, Odgis JA, Peterson JF, Pineda-Alvarez DE, Puckelwartz M, Purcell J, Rasmussen-Torvik LJ, Roden DM, Rosenthal EA, Rowley R, Sabatello M, Scherr CL, Shaibi GQ, Sharp RR, Smoller JW, Sterling R, Suckiel SA, Terek S, Ting YL, Velez Edwards DR, Walunas TL, Wei WQ, Weng C, Wiesner GL, Xian S, Jarvik GP, Kullo I. Lawson LP, et al. Among authors: davis kw. Am J Hum Genet. 2026 Apr 2;113(4):678-691. doi: 10.1016/j.ajhg.2026.02.016. Epub 2026 Mar 23. Am J Hum Genet. 2026. PMID: 41875895
The Electronic Medical Records and Genomics study: Design and analytic framework for assessing the impact of genome-informed risk assessments.
Limdi N, Beasley TM, Cortopassi J, Davis B, Bangash H, Chen J, Chisholm RL, Chung WK, Cimino JJ, Connolly J, Crosslin DR, Davis KW, DiVietro A, Esplin ED, Freimuth B, Gordon A, Hakonarson H, Hamed M, He M, Hoell C, Holm I, Hripscak G, Irvin MR, Jarvik GP, Karavite D, Karlson EW, Kenny EE, Khan A, Kiryluk K, Knerr S, Korf B, Kottyan L, Kullo I, Larkin K, Lennon N, Linder JE, Manolio T, Martin LJ, McNally EM, Morse J, Murphy S, Namjou B, Odgis JA, Orlando L, Pacheco J, Peterson JF, Pineda-Alvarez DE, Prows C, Puckelwartz M, Purcell J, Rasmussen-Torvik L, Rehm H, Roden DM, Rosenthal EA, Rowley R, Sabatello M, Schaid D, Sharp R, Smith JL, Smoller JW, Soper ER, Sterling R, Suckiel SA, Terek S, Thayer J, Ting YL, Tiwari H, Velez-Edwards D, Wagholikar KB, Walunas T, Wei WQ, Weng C, Wiesner G, Abul-Husn NS, Veenstra DL. Limdi N, et al. Among authors: davis kw. Am J Hum Genet. 2026 Apr 2;113(4):664-677. doi: 10.1016/j.ajhg.2026.02.018. Epub 2026 Mar 23. Am J Hum Genet. 2026. PMID: 41875897 Free article.