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Shariant platform: Enabling evidence sharing across Australian clinical genetic-testing laboratories to support variant interpretation.
Tudini E, Andrews J, Lawrence DM, King-Smith SL, Baker N, Baxter L, Beilby J, Bennetts B, Beshay V, Black M, Boughtwood TF, Brion K, Cheong PL, Christie M, Christodoulou J, Chong B, Cox K, Davis MR, Dejong L, Dinger ME, Doig KD, Douglas E, Dubowsky A, Ellul M, Fellowes A, Fisk K, Fortuno C, Friend K, Gallagher RL, Gao S, Hackett E, Hadler J, Hipwell M, Ho G, Hollway G, Hooper AJ, Kassahn KS, Krishnaraj R, Lau C, Le H, San Leong H, Lundie B, Lunke S, Marty A, McPhillips M, Nguyen LT, Nones K, Palmer K, Pearson JV, Quinn MCJ, Rawlings LH, Sadedin S, Sanchez L, Schreiber AW, Sigalas E, Simsek A, Soubrier J, Stark Z, Thompson BA, U J, Vakulin CG, Wells AV, Wise CA, Woods R, Ziolkowski A, Brion MJ, Scott HS, Thorne NP, Spurdle AB; Shariant Consortium. Tudini E, et al. Among authors: hollway g. Am J Hum Genet. 2022 Nov 3;109(11):1960-1973. doi: 10.1016/j.ajhg.2022.10.006. Am J Hum Genet. 2022. PMID: 36332611 Free PMC article. Review.
The clinical utility and costs of whole-genome sequencing to detect cancer susceptibility variants-a multi-site prospective cohort study.
Davidson AL, Dressel U, Norris S, Canson DM, Glubb DM, Fortuno C, Hollway GE, Parsons MT, Vidgen ME, Holmes O, Koufariotis LT, Lakis V, Leonard C, Wood S, Xu Q, McCart Reed AE, Pickett HA, Al-Shinnag MK, Austin RL, Burke J, Cops EJ, Nichols CB, Goodwin A, Harris MT, Higgins MJ, Ip EL, Kiraly-Borri C, Lau C, Mansour JL, Millward MW, Monnik MJ, Pachter NS, Ragunathan A, Susman RD, Townshend SL, Trainer AH, Troth SL, Tucker KM, Wallis MJ, Walsh M, Williams RA, Winship IM, Newell F, Tudini E, Pearson JV, Poplawski NK, Mar Fan HG, James PA, Spurdle AB, Waddell N, Ward RL. Davidson AL, et al. Among authors: hollway ge. Genome Med. 2023 Sep 19;15(1):74. doi: 10.1186/s13073-023-01223-1. Genome Med. 2023. PMID: 37723522 Free PMC article.
Comparison of actionable events detected in cancer genomes by whole-genome sequencing, in silico whole-exome and mutation panels.
Ramarao-Milne P, Kondrashova O, Patch AM, Nones K, Koufariotis LT, Newell F, Addala V, Lakis V, Holmes O, Leonard C, Wood S, Xu Q, Mukhopadhyay P, Naeini MM, Steinfort D, Williamson JP, Bint M, Pahoff C, Nguyen PT, Twaddell S, Arnold D, Grainge C, Basirzadeh F, Fielding D, Dalley AJ, Chittoory H, Simpson PT, Aoude LG, Bonazzi VF, Patel K, Barbour AP, Fennell DA, Robinson BW, Creaney J, Hollway G, Pearson JV, Waddell N. Ramarao-Milne P, et al. Among authors: hollway g. ESMO Open. 2022 Aug;7(4):100540. doi: 10.1016/j.esmoop.2022.100540. Epub 2022 Jul 15. ESMO Open. 2022. PMID: 35849877 Free PMC article.
Intrinsic Defects in B Cell Development and Differentiation, T Cell Exhaustion and Altered Unconventional T Cell Generation Characterize Human Adenosine Deaminase Type 2 Deficiency.
Yap JY, Moens L, Lin MW, Kane A, Kelleher A, Toong C, Wu KHC, Sewell WA, Phan TG, Hollway GE, Enthoven K, Gray PE, Casas-Martin J, Wouters C, De Somer L, Hershfield M, Bucciol G, Delafontaine S, Ma CS, Tangye SG, Meyts I. Yap JY, et al. Among authors: hollway ge. J Clin Immunol. 2021 Nov;41(8):1915-1935. doi: 10.1007/s10875-021-01141-0. Epub 2021 Oct 17. J Clin Immunol. 2021. PMID: 34657246 Free PMC article.
32 results