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Page 1
ClinGen Myeloid Malignancy Variant Curation Expert Panel recommendations for germline RUNX1 variants.
Luo X, Feurstein S, Mohan S, Porter CC, Jackson SA, Keel S, Chicka M, Brown AL, Kesserwan C, Agarwal A, Luo M, Li Z, Ross JE, Baliakas P, Pineda-Alvarez D, DiNardo CD, Bertuch AA, Mehta N, Vulliamy T, Wang Y, Nichols KE, Malcovati L, Walsh MF, Rawlings LH, McWeeney SK, Soulier J, Raimbault A, Routbort MJ, Zhang L, Ryan G, Speck NA, Plon SE, Wu D, Godley LA. Luo X, et al. Among authors: kesserwan c. Blood Adv. 2019 Oct 22;3(20):2962-2979. doi: 10.1182/bloodadvances.2019000644. Blood Adv. 2019. PMID: 31648317 Free PMC article.
Germline SAMD9 mutation in siblings with monosomy 7 and myelodysplastic syndrome.
Schwartz JR, Wang S, Ma J, Lamprecht T, Walsh M, Song G, Raimondi SC, Wu G, Walsh MF, McGee RB, Kesserwan C, Nichols KE, Cauff BE, Ribeiro RC, Wlodarski M, Klco JM. Schwartz JR, et al. Among authors: kesserwan c. Leukemia. 2017 Aug;31(8):1827-1830. doi: 10.1038/leu.2017.142. Epub 2017 May 10. Leukemia. 2017. PMID: 28487541 Free PMC article. No abstract available.
The genomic landscape of pediatric myelodysplastic syndromes.
Schwartz JR, Ma J, Lamprecht T, Walsh M, Wang S, Bryant V, Song G, Wu G, Easton J, Kesserwan C, Nichols KE, Mullighan CG, Ribeiro RC, Klco JM. Schwartz JR, et al. Among authors: kesserwan c. Nat Commun. 2017 Nov 16;8(1):1557. doi: 10.1038/s41467-017-01590-5. Nat Commun. 2017. PMID: 29146900 Free PMC article.
Integrating somatic variant data and biomarkers for germline variant classification in cancer predisposition genes.
Walsh MF, Ritter DI, Kesserwan C, Sonkin D, Chakravarty D, Chao E, Ghosh R, Kemel Y, Wu G, Lee K, Kulkarni S, Hedges D, Mandelker D, Ceyhan-Birsoy O, Luo M, Drazer M, Zhang L, Offit K, Plon SE. Walsh MF, et al. Among authors: kesserwan c. Hum Mutat. 2018 Nov;39(11):1542-1552. doi: 10.1002/humu.23640. Hum Mutat. 2018. PMID: 30311369 Free PMC article.
Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline CDH1 sequence variants.
Lee K, Krempely K, Roberts ME, Anderson MJ, Carneiro F, Chao E, Dixon K, Figueiredo J, Ghosh R, Huntsman D, Kaurah P, Kesserwan C, Landrith T, Li S, Mensenkamp AR, Oliveira C, Pardo C, Pesaran T, Richardson M, Slavin TP, Spurdle AB, Trapp M, Witkowski L, Yi CS, Zhang L, Plon SE, Schrader KA, Karam R. Lee K, et al. Among authors: kesserwan c. Hum Mutat. 2018 Nov;39(11):1553-1568. doi: 10.1002/humu.23650. Hum Mutat. 2018. PMID: 30311375 Free PMC article.
Polygenic Determinants for Subsequent Breast Cancer Risk in Survivors of Childhood Cancer: The St Jude Lifetime Cohort Study (SJLIFE).
Wang Z, Liu Q, Wilson CL, Easton J, Mulder H, Chang TC, Rusch MC, Edmonson MN, Rice SV, Ehrhardt MJ, Howell RM, Kesserwan CA, Wu G, Nichols KE, Downing JR, Hudson MM, Zhang J, Yasui Y, Robison LL. Wang Z, et al. Among authors: kesserwan ca. Clin Cancer Res. 2018 Dec 15;24(24):6230-6235. doi: 10.1158/1078-0432.CCR-18-1775. Epub 2018 Oct 26. Clin Cancer Res. 2018. PMID: 30366939 Free PMC article.
From uncertainty to pathogenicity: clinical and functional interrogation of a rare TP53 in-frame deletion.
Quinn EA, Maciaszek JL, Pinto EM, Phillips AH, Berdy D, Khandwala M, Upadhyaya SA, Zambetti GP, Kriwacki RW, Ellison DW, Nichols KE, Kesserwan C. Quinn EA, et al. Among authors: kesserwan c. Cold Spring Harb Mol Case Stud. 2019 Aug 1;5(4):a003921. doi: 10.1101/mcs.a003921. Print 2019 Aug. Cold Spring Harb Mol Case Stud. 2019. PMID: 30886117 Free PMC article.
36 results