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Expedited evaluation of hereditary hematopoietic malignancies in the setting of stem cell transplantation.
Roloff GW, Kosuri S, Nawas MT, DuVall AS, Patel AA, Riedell PA, Odenike O, Stock W, Larson RA, Bishop MR, Nunley E, Godley LA, Hathaway F, Del Gaudio D, Das S, Canham LE, Drazer MW. Roloff GW, et al. Among authors: del gaudio d. Haematologica. 2024 Apr 11. doi: 10.3324/haematol.2023.284584. Online ahead of print. Haematologica. 2024. PMID: 38618681 Free article.
Germline Variants Incidentally Detected via Tumor-Only Genomic Profiling of Patients With Mesothelioma.
Mitchell OD, Gilliam K, Del Gaudio D, McNeely KE, Smith S, Acevedo M, Gaduraju M, Hodge R, Ramsland ASS, Segal J, Das S, Hathaway F, Bryan DS, Tawde S, Galasinski S, Wang P, Tjota MY, Husain AN, Armato SG 3rd, Donington J, Ferguson MK, Turaga K, Churpek JE, Kindler HL, Drazer MW. Mitchell OD, et al. Among authors: del gaudio d. JAMA Netw Open. 2023 Aug 1;6(8):e2327351. doi: 10.1001/jamanetworkopen.2023.27351. JAMA Netw Open. 2023. PMID: 37556141 Free PMC article.
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: del gaudio d. Genet Med. 2023 Dec;25(12):100947. doi: 10.1016/j.gim.2023.100947. Epub 2023 Jul 30. Genet Med. 2023. PMID: 37534744
Feasibility and limitations of cultured skin fibroblasts for germline genetic testing in hematologic disorders.
DeRoin L, Cavalcante de Andrade Silva M, Petras K, Arndt K, Phillips N, Wanjari P, Subramanian HP, Montes D, McElherne J, Theissen M, Briese R, Das S, Godley LA, Segal J, Del Gaudio D, Fitzpatrick C, Churpek JE. DeRoin L, et al. Among authors: del gaudio d. Hum Mutat. 2022 Jul;43(7):950-962. doi: 10.1002/humu.24374. Epub 2022 Apr 14. Hum Mutat. 2022. PMID: 35419889 Free PMC article.
Novel compound heterozygous LRBA deletions in a 6-month-old with neonatal diabetes.
Sanyoura M, Lundgrin EL, Subramanian HP, Yu M, Sodadasi P, Greeley SAW, MacLeish S, Del Gaudio D. Sanyoura M, et al. Among authors: del gaudio d. Diabetes Res Clin Pract. 2021 May;175:108798. doi: 10.1016/j.diabres.2021.108798. Epub 2021 Apr 15. Diabetes Res Clin Pract. 2021. PMID: 33845048 Free PMC article.
Germline variants drive myelodysplastic syndrome in young adults.
Feurstein S, Churpek JE, Walsh T, Keel S, Hakkarainen M, Schroeder T, Germing U, Geyh S, Heuser M, Thol F, Pohlkamp C, Haferlach T, Gao J, Owen C, Goehring G, Schlegelberger B, Verma D, Krause DS, Gao G, Cronin T, Gulsuner S, Lee M, Pritchard CC, Subramanian HP, Del Gaudio D, Li Z, Das S, Kilpivaara O, Wartiovaara-Kautto U, Wang ES, Griffiths EA, Döhner K, Döhner H, King MC, Godley LA. Feurstein S, et al. Among authors: del gaudio d. Leukemia. 2021 Aug;35(8):2439-2444. doi: 10.1038/s41375-021-01137-0. Epub 2021 Jan 28. Leukemia. 2021. PMID: 33510405 Free PMC article. No abstract available.
62 results