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Page 1
Germ line ERG haploinsufficiency defines a new syndrome with cytopenia and hematological malignancy predisposition.
Zerella JR, Homan CC, Arts P, Lin X, Spinelli SJ, Venugopal P, Babic M, Brautigan PJ, Truong L, Arriola-Martinez L, Moore S, Hollins R, Parker WT, Nguyen H, Kassahn KS, Branford S, Feurstein S, Larcher L, Sicre de Fontbrune F, Demirdas S, de Munnik S, Antoine-Poirel H, Brichard B, Mansour S, Gordon K, Wlodarski MW, Koppayi A, Dobbins S, Mutsaers PGNJ, Nichols KE, Oak N, DeMille D, Mao R, Crawford A, McCarrier J, Basel D, Flores-Daboub J, Drazer MW, Phillips K, Poplawski NK, Birdsey GM, Pirri D, Ostergaard P, Simons A, Godley LA, Ross DM, Hiwase DK, Soulier J, Brown AL, Carmichael CL, Scott HS, Hahn CN. Zerella JR, et al. Among authors: nichols ke. Blood. 2024 Oct 24;144(17):1765-1780. doi: 10.1182/blood.2024024607. Blood. 2024. PMID: 38991192 Free PMC article.
X-linked lymphoproliferative disease due to SAP/SH2D1A deficiency: a multicenter study on the manifestations, management and outcome of the disease.
Booth C, Gilmour KC, Veys P, Gennery AR, Slatter MA, Chapel H, Heath PT, Steward CG, Smith O, O'Meara A, Kerrigan H, Mahlaoui N, Cavazzana-Calvo M, Fischer A, Moshous D, Blanche S, Pachlopnik Schmid J, Latour S, de Saint-Basile G, Albert M, Notheis G, Rieber N, Strahm B, Ritterbusch H, Lankester A, Hartwig NG, Meyts I, Plebani A, Soresina A, Finocchi A, Pignata C, Cirillo E, Bonanomi S, Peters C, Kalwak K, Pasic S, Sedlacek P, Jazbec J, Kanegane H, Nichols KE, Hanson IC, Kapoor N, Haddad E, Cowan M, Choo S, Smart J, Arkwright PD, Gaspar HB. Booth C, et al. Among authors: nichols ke. Blood. 2011 Jan 6;117(1):53-62. doi: 10.1182/blood-2010-06-284935. Epub 2010 Oct 6. Blood. 2011. PMID: 20926771 Free PMC article.
Go with the flow: perforin and CD107a in HLH.
Hines MR, Nichols KE. Hines MR, et al. Among authors: nichols ke. Blood. 2017 Jun 1;129(22):2954-2955. doi: 10.1182/blood-2017-04-773192. Blood. 2017. PMID: 28572174 Free article. No abstract available.
Recommendations for Surveillance for Children with Leukemia-Predisposing Conditions.
Porter CC, Druley TE, Erez A, Kuiper RP, Onel K, Schiffman JD, Wolfe Schneider K, Scollon SR, Scott HS, Strong LC, Walsh MF, Nichols KE. Porter CC, et al. Among authors: nichols ke. Clin Cancer Res. 2017 Jun 1;23(11):e14-e22. doi: 10.1158/1078-0432.CCR-17-0428. Clin Cancer Res. 2017. PMID: 28572263 Review.
Enrichment of heterozygous germline RECQL4 loss-of-function variants in pediatric osteosarcoma.
Maciaszek JL, Oak N, Chen W, Hamilton KV, McGee RB, Nuccio R, Mostafavi R, Hines-Dowell S, Harrison L, Taylor L, Gerhardt EL, Ouma A, Edmonson MN, Patel A, Nakitandwe J, Pappo AS, Azzato EM, Shurtleff SA, Ellison DW, Downing JR, Hudson MM, Robison LL, Santana V, Newman S, Zhang J, Wang Z, Wu G, Nichols KE, Kesserwan CA. Maciaszek JL, et al. Among authors: nichols ke. Cold Spring Harb Mol Case Stud. 2019 Oct 23;5(5):a004218. doi: 10.1101/mcs.a004218. Print 2019 Oct. Cold Spring Harb Mol Case Stud. 2019. PMID: 31604778 Free PMC article.
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: nichols ke. Blood Adv. 2019 Oct 22;3(20):2962-2979. doi: 10.1182/bloodadvances.2019000644. Blood Adv. 2019. PMID: 31648317 Free PMC article.
Recent advances in Wilms' tumor predisposition.
Maciaszek JL, Oak N, Nichols KE. Maciaszek JL, et al. Among authors: nichols ke. Hum Mol Genet. 2020 Oct 20;29(R2):R138-R149. doi: 10.1093/hmg/ddaa091. Hum Mol Genet. 2020. PMID: 32412586 Review.
287 results