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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.
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.
Genotypic and Phenotypic Features of BAP1 Cancer Syndrome: A Report of 8 New Families and Review of Cases in the Literature.
Haugh AM, Njauw CN, Bubley JA, Verzì AE, Zhang B, Kudalkar E, VandenBoom T, Walton K, Swick BL, Kumar R, Rana HQ, Cochrane S, McCormick SR, Shea CR, Tsao H, Gerami P. Haugh AM, et al. Among authors: kudalkar e. JAMA Dermatol. 2017 Oct 1;153(10):999-1006. doi: 10.1001/jamadermatol.2017.2330. JAMA Dermatol. 2017. PMID: 28793149 Free PMC article. Review.
Integrated genomic profiling expands clinical options for patients with cancer.
Beaubier N, Bontrager M, Huether R, Igartua C, Lau D, Tell R, Bobe AM, Bush S, Chang AL, Hoskinson DC, Khan AA, Kudalkar E, Leibowitz BD, Lozachmeur A, Michuda J, Parsons J, Perera JF, Salahudeen A, Shah KP, Taxter T, Zhu W, White KP. Beaubier N, et al. Among authors: kudalkar e. Nat Biotechnol. 2019 Nov;37(11):1351-1360. doi: 10.1038/s41587-019-0259-z. Epub 2019 Sep 30. Nat Biotechnol. 2019. PMID: 31570899
Distinct Patterns of Acral Melanoma Based on Site and Relative Sun Exposure.
Haugh AM, Zhang B, Quan VL, Garfield EM, Bubley JA, Kudalkar E, Verzi AE, Walton K, VandenBoom T, Merkel EA, Lee CY, Tan T, Isales MC, Kong BY, Wenzel AT, Bunick CG, Choi J, Sosman J, Gerami P. Haugh AM, et al. Among authors: kudalkar e. J Invest Dermatol. 2018 Feb;138(2):384-393. doi: 10.1016/j.jid.2017.08.022. Epub 2017 Sep 1. J Invest Dermatol. 2018. PMID: 28870692 Free article.
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.
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