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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: eisenberg m. Genet Med. 2023 Dec;25(12):100947. doi: 10.1016/j.gim.2023.100947. Epub 2023 Jul 30. Genet Med. 2023. PMID: 37534744
Clinical characterization of the mutational landscape of 24,639 real-world samples from patients with myeloid malignancies.
Hogg G, Severson EA, Cai L, Hoffmann HM, Holden KA, Fitzgerald K, Kenyon A, Zeng Q, Mooney M, Gardner S, Chen W, Nagan N, Boles D, Parker S, Richman TJ, Letovsky S, Dong H, Anderson SM, Ramkissoon S, Reddy P, Eisenberg M, Chenn A, Jensen TJ. Hogg G, et al. Among authors: eisenberg m. Cancer Genet. 2023 Nov;278-279:38-49. doi: 10.1016/j.cancergen.2023.07.006. Epub 2023 Aug 8. Cancer Genet. 2023. PMID: 37586297 Free article.
BRCA Share: A Collection of Clinical BRCA Gene Variants.
Béroud C, Letovsky SI, Braastad CD, Caputo SM, Beaudoux O, Bignon YJ, Bressac-De Paillerets B, Bronner M, Buell CM, Collod-Béroud G, Coulet F, Derive N, Divincenzo C, Elzinga CD, Garrec C, Houdayer C, Karbassi I, Lizard S, Love A, Muller D, Nagan N, Nery CR, Rai G, Revillion F, Salgado D, Sévenet N, Sinilnikova O, Sobol H, Stoppa-Lyonnet D, Toulas C, Trautman E, Vaur D, Vilquin P, Weymouth KS, Willis A; Laboratory Corporation of America Variant Classification Group; Quest Diagnostics Variant Classification Group; UNICANCER Genetic Group BRCA Laboratory Network; Eisenberg M, Strom CM. Béroud C, et al. Among authors: eisenberg m. Hum Mutat. 2016 Dec;37(12):1318-1328. doi: 10.1002/humu.23113. Epub 2016 Sep 28. Hum Mutat. 2016. PMID: 27633797 Free article.
Current global status of male reproductive health.
De Jonge CJ, Barratt CLR, Aitken RJ, Anderson RA, Baker P, Chan DYL, Connolly MP, Eisenberg ML, Garrido N, Jørgensen N, Kimmins S, Krausz C, McLachlan RI, Niederberger C, O'Bryan MK, Pacey A, Priskorn L, Rautakallio-Hokkanen S, Serour G, Veltman JA, Vogel DL, Vazquez-Levin MH. De Jonge CJ, et al. Among authors: eisenberg ml. Hum Reprod Open. 2024 Apr 12;2024(2):hoae017. doi: 10.1093/hropen/hoae017. eCollection 2024. Hum Reprod Open. 2024. PMID: 38699533 Free PMC article. Review.
1,788 results