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Page 1
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.
Clinical utility of gene panel-based testing for hereditary myelodysplastic syndrome/acute leukemia predisposition syndromes.
Guidugli L, Johnson AK, Alkorta-Aranburu G, Nelakuditi V, Arndt K, Churpek JE, Godley LA, Townsley D, Young NS, Fitzpatrick C, Del Gaudio D, Das S, Li Z. Guidugli L, et al. Among authors: del gaudio d. Leukemia. 2017 May;31(5):1226-1229. doi: 10.1038/leu.2017.28. Epub 2017 Jan 20. Leukemia. 2017. PMID: 28104920 Free PMC article. No abstract available.
Targeted exome analysis identifies the genetic basis of disease in over 50% of patients with a wide range of ataxia-related phenotypes.
Sun M, Johnson AK, Nelakuditi V, Guidugli L, Fischer D, Arndt K, Ma L, Sandford E, Shakkottai V, Boycott K, Warman-Chardon J, Li Z, Del Gaudio D, Burmeister M, Gomez CM, Waggoner DJ, Das S. Sun M, et al. Among authors: del gaudio d. Genet Med. 2019 Jan;21(1):195-206. doi: 10.1038/s41436-018-0007-7. Epub 2018 Jun 18. Genet Med. 2019. PMID: 29915382 Free PMC article.
Telomere biology disorder prevalence and phenotypes in adults with familial hematologic and/or pulmonary presentations.
Feurstein S, Adegunsoye A, Mojsilovic D, Vij R, West DePersia AH, Rajagopal PS, Osman A, Collins RH, Kim RH, Gore SD, Greenberg P, Godley LA, Li Z, Del Gaudio D, Subramanian HP, Das S, Walsh T, Gulsuner S, Segal JP, Husain AN, Gurbuxani S, King MC, Strek ME, Churpek JE. Feurstein S, et al. Among authors: del gaudio d. Blood Adv. 2020 Oct 13;4(19):4873-4886. doi: 10.1182/bloodadvances.2020001721. Blood Adv. 2020. PMID: 33035329 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.
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.
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.
63 results