Selected Publications
Shakoory B, Geerlinks A, Wilejto M, Kernan K, Hines M, Romano M, Piskin D, Ravelli A, Sinha R, Aletaha D, Allen C, Bassiri H, Behrens EM, Carcillo J, Carl L, Chatham W, Cohen JI, Cron RQ, Drewniak E, Grom AA, Henderson LA, Horne A, Jordan MB, Nichols KE, Schulert G, Vastert S, Demirkaya E, Goldbach-Mansky R, de Benedetti F, Marsh RA, Canna SW. The 2022 EULAR/ACR Points to Consider at the Early Stages of Diagnosis and Management of Suspected Haemophagocytic Lymphohistiocytosis/Macrophage Activation Syndrome (HLH/MAS). Arthritis Rheumatol Jul 24, 2023. doi: 10.1002/art.42636. Epub ahead of print. PMID: 37486733
Hamilton KV, Fox LC, Nichols KE. How I Communicate with Patients and Families about Germline Genetic Information. Blood Jun 29;141(26):3143-3152, 2023. doi: 10.1182/blood.2022017379. PMID: 37023453. Role: Corresponding Author
Subasri V, Light N, Kanwar N, Brzezinski J, Luo P, Hansford JR, Cairney E, Portwine C, Elser C, Finlay JL, Nichols KE, Alon N, Brunga L, Anson J, Kohlmann W, de Andrade KC, Khincha PP, Savage SA, Schiffman JD, Weksberg R, Pugh TJ, Villani A, Shlien A, Goldenberg A, Malkin D. Multiple Germline Events Contribute to Cancer Development in Patients with Li-Fraumeni Syndrome. Cancer Res Commun May 1;3(5):738-754, 2023. doi: 10.1158/2767-9764.CRC-22-0402. PMID: 37377903; PMCID: PMC10150777
Jansen RW, de Bloeme CM, Cardoen L, Göricke S, van Elst S, Jessen JL, Ramasubramanian A, Skalet AH, Miller AK, Maeder P, Uner OE, Hubbard GB, Grossniklaus H, Boldt HC, Nichols KE, Brennan RC, Sen S, Sirin S, Brisse HJ, Galluzzi P, Dommering CJ, Castelijns JA, van der Valk P, Boellaard R, Dorsman J, Moll AC, de Jong MC, de Graaf P. MRI Features for Identifying MYCN-amplified RB1 Wild-type Retinoblastoma. Radiology Jun;307(5):e222264, 2023. doi: 10.1148/radiol.222264. Epub 2023 May 16. PMID: 37191489
Howard Sharp KM, Blake A, Flynn J, Brown S, Rashad J, Harrison L, McGee R, Mandrell B, Nichols KE. Adolescent and Young Adult Understanding of their Childhood Cancer Predisposition Diagnosis: A Qualitative Study. J Pediatr Jun 4:113538, 2023. doi: 10.1016/j.jpeds.2023.113538. Epub ahead of print. PMID: 37279817
Albeituni S, Oak N, Tillman HS, Stroh A, Keenan C, Bloom M, Nichols KE. Cellular and transcriptional impacts of Janus kinase and/or IFN-gamma inhibition in a mouse model of primary hemophagocytic lymphohistiocytosis. Front Immunol Apr 27;14:1137037, 2023. doi: 10.3389/fimmu.2023.1137037. PMID: 37228616; PMCID: PMC10204641 Role: Corresponding Author.
McGee RB, Oak N, Harrison L, Xu K, Nuccio R, Blake AK, Mostafavi R, Lewis S, Taylor LM, Kubal M, Ouma A, Hines-Dowell SJ, Cheng C, Furtado LV, Nichols KE. Pathogenic Variants in Adult-Onset Cancer Predisposition Genes in Pediatric Cancer: Prevalence and Impact on Tumor Molecular Features and Clinical Management. Clin Cancer Res Apr 3;29(7):1243-1251, 2023. doi: 10.1158/1078-0432.CCR-22-2482. PMID: 36693186. Role: Corresponding Author.
Witkowski L, Nichols KE, Jongmans M, van Engelen N, de Krijger RR, Herrera-Mullar J, Tytgat L, Bahrami A, Mar Fan H, Davidson AL, Robertson T, Anderson M, Hasselblatt M, Plon SE, Foulkes WD. Germline pathogenic SMARCA4 variants in neuroblastoma. J Med Genet Feb 22:jmg-2022-108854, 2023. doi: 10.1136/jmg-2022-108854. Epub ahead of print. PMID: 36813544
Murphy AJ, Cheng C, Williams J, Shaw TI, Pinto EM, Dieseldorff-Jones K, Brzezinski J, Renfro LA, Tornwall B, Huff V, Hong AL, Mullen EA, Crompton B, Dome JS, Fernandez CV, Geller JI, Ehrlich PF, Mulder H, Oak N, Maciezsek J, Jablonowski C, Fleming AM, Pichavaram P, Morton CL, Easton J, Nichols KE, Clay MR, Santiago T, Zhang J, Yang J, Zambetti GP, Wang Z, Davidoff AM, Chen X. The Genetic and Epigenetic Features of Bilateral Wilms Tumor Predisposition: A Report from the Children's Oncology Group AREN18B5-Q Study. Res Sq [Preprint]. Mar 16:rs.3.rs-2675436, 2023. doi: 10.21203/rs.3.rs-2675436/v1. PMID: 36993649; PMCID: PMC10055651
Flerlage JE, Myers JR, Maciaszek JL, Oak N, Rashkin SR, Hui Y, Wang YD, Chen W, Wu G, Chang TC, Hamilton KV, Goldin LR, Rotunno M, Caporaso NE, Vogt A, Flamish D, Wyatt K, Liu J, Tucker MA, Mullighan CG, Nichols KE, Metzger ML, McMaster ML, Yang JJ, Rampersaud E. Discovery of novel predisposing coding and noncoding variants in familial Hodgkin lymphoma. Blood Mar 16;141(11):1293-1307, 2023. doi: 10.1182/blood.2022016056. PMID: 35977101; PMCID: PMC10082357
MacFarland SP, Maese L, Rednam SP, Kamihara J, Perrino MR, Nichols KE, Brodeur GM, Schiffman JD, Plon SE, Diller LR, Malkin D, Porter CC, Villani A. Collaboration to Promote Research and Improve Clinical Care in the Evolving Field of Childhood Cancer Predisposition. Cancer Prev Res (Phila) Oct 4;15(10):645-652, 2022. doi: 10.1158/1940-6207.CAPR-22-0215. PMID: 36001348.
Mandrell BN, Johnson LM, Caples M, Gattuso J, Maciaszek JL, Mostafavi R, Sharp KMH, Nichols KE. Parental Preferences Surrounding Timing and Content of Consent Conversations for Clinical Germline Genetic Testing Following a Child's New Cancer Diagnosis. JCO Precis Oncol Oct;6:e2200323, 2022. doi: 10.1200/PO.22.00323. PMID: 36265116; PMCID: PMC9848596
Johnson LM, Mandrell BN, Li C, Lu Z, Gattuso J, Harrison LW, Mori M, Ouma AA, Pritchard M, Sharp KMH, Nichols KE. Managing Pandora's Box: Familial Expectations around the Return of (Future) Germline Results. AJOB Empirical Bioethics Jul-Sep;13(3):152-165, 2022. doi: 10.1080/23294515.2022.2063994. Epub 2022 Apr 26. PMID: 35471132.
Hasler HM, Murray A, Canavera KE, Parris KR, Nichols KE, Jacola LM. Case Series: Neurobehavioral Profile of Adolescents with PTEN Hamartoma Tumor Syndrome. Journal of Pediatric Neuropsychology Jun;8(2):79-85, 2022. doi: 10.1007/s40817-022-00124-2. Epub 2022 May 18. PMID: 37090027
Upadhyaya SA, Campagne O, Billups CA, Orr BA, Onar-Thomas A, Tatevossian RG, Mostafavi R, Myers JR, Vinitsky A, Moreira DC, Lindsay HB, Kilburn L, Baxter P, Smith A, Crawford JR, Partap S, Bendel AE, Aguilera DG, Nichols KE, Rampersaud E, Ellison DW, Klimo P, Patay Z, Robinson GW, Broniscer A, Stewart CF, Wetmore C, Gajjar A. Phase II study of alisertib as a single agent for treating recurrent or progressive atypical teratoid/rhabdoid tumor. Neuro Oncol Jun 2:noac151, 2022. doi: 10.1093/neuonc/noac151. Epub ahead of print. PMID: 35652336
Casado-Garcia A, Isidro-Hernandez M, Oak N, Mayado A, Mann-Ran C, Raboso-Gallego J, Aleman-Arteaga S, Buhles A, Sterker D, Sanchez EG, Martinez-Cano J, Blanco O, Orfao A, Alonso-Lopez D, De Las Rivas J, Riesco S, Prieto-Matos P, Gonzalez-Murillo A, Garcia Criado FJJ, Garcia Cenador MB, Radimerski T, Ramirez-Orellana M, Cobaleda C, Yang JJ, Vicente-Duenas C, Weiss A, Nichols KE, Sanchez-Garcia I. Transient inhibition of the JAK/STAT pathway prevents B-ALL development in genetically predisposed mice. Cancer Res Feb 7, 2022.
Hu Y, Caldwell KJ, Onciu M, Federico SM, Salek M, Lewis S, Lei S, Zhang J, Nichols KE, Takemoto C, Triplett BM, Farrar JE, Rubnitz JE, Ribeiro RC, Wlodarski MW. CPX-351 induces remission in newly diagnosed pediatric secondary myeloid malignancies. Blood Adv 6(2):521-527, 2021.
Kratz CP, Freycon C, Maxwell KN, Nichols KE, Schiffman JD, Evans DG, Achatz MI, Savage SA, Weitzel JN, Garber JE, Hainaut P, Malkin D. Analysis of the Li-Fraumeni spectrum based on an international germline TP53 variant data set: An International Agency for Research on Cancer TP53 database analysis. JAMA Oncol Oct 28, 2021.
Pinto EM, Maxwell KN, Halalsheh H, Phillips A, Powers J, MacFarland S, Walsh MF, Breen K, Formiga MN, Kriwacki R, Nichols KE, Mostafavi R, Wang J, Clay MR, Rodriguez-Galindo C, Ribeiro RC, Zambetti GP. Clinical and functional significance of TP53 exon 4-intron 4 splice junction variants. Mol Cancer Res Oct 21, 2021.
Mostafavi RM, Nichols KE. Identifying childhood cancer survivors at increased genetic risk for second malignant neoplasms: Use of a novel screening tool. J Clin Oncol 39(29):3195-3198, 2021.
Goudie C, Witkowski L, Cullinan N, Reichman L, Schiller I, Tachdjian M, Armstrong L, Blood KA, Brossard J, Brunga L, Cacciotti C, Caswell K, Cellot S, Clark ME, Clinton C, Coltin H, Felton K, Fernandez CV, Fleming AJ, Fuentes-Bolanos N, Gibson P, Grant R, Hammad R, Harrison LW, Irwin MS, Johnston DL, Kane S, Lafay-Cousin L, Lara-Corrales I, Larouche V, Mathews N, Meyn MS, Michaeli O, Perrier R, Pike M, Punnett A, Ramaswamy V, Say J, Somers G, Tabori U, Thibodeau ML, Toupin AK, Tucker KM, van Engelen K, Vairy S, Waespe N, Warby M, Wasserman JD, Whitlock JA, Sinnett D, Jabado N, Nathan PC, Shlien A, Kamihara J, Deyell RJ, Ziegler DS, Nichols KE, Dendukuri N, Malkin D, Villani A, Foulkes WD. Performance of the McGill Interactive Pediatric OncoGenetic Guidelines for identifying cancer predisposition syndromes. JAMA Oncol Oct 7, 2021.
Durno C, Ercan AB, Bianchi V, Edwards M, Aronson M, Galati M, Atenafu EG, Abebe-Campino G, Al-Battashi A, Alharbi M, Azad VF, Baris HN, Basel D, Bedgood R, Bendel A, Ben-Shachar S, Blumenthal DT, Blundell M, Bornhorst M, Bronsema A, Cairney E, Rhode S, Caspi S, Chamdin A, Chiaravalli S, Constantini S, Crooks B, Das A, Dvir R, Farah R, Foulkes WD, Frenkel Z, Gallinger B, Gardner S, Gass D, Ghalibafian M, Gilpin C, Goldberg Y, Goudie C, Hamid SA, Hampel H, Hansford JR, Harlos C, Hijiya N, Hsu S, Kamihara J, Kebudi R, Knipstein J, Koschmann C, Kratz C, Larouche V, Lassaletta A, Lindhorst S, Ling SC, Link MP, Loret De Mola R, Luiten R, Lurye M, Maciaszek JL, MagimairajanIssai V, Maher OM, Massimino M, McGee RB, Mushtaq N, Mason G, Newmark M, Nicholas G, Nichols KE, Nicolaides T, Opocher E, Osborn M, Oshrine B, Pearlman R, Pettee D, Rapp J, Rashid M, Reddy A, Reichman L, Remke M, Robbins G, Roy S, Sabel M, Samuel D, Scheers I, Schneider KW, Sen S, Stearns D, Sumerauer D, Swallow C, Taylor L, Thomas G, Toledano H, Tomboc P, Van Damme A, Winer I, Yalon M, Yen LY, Zapotocky M, Zelcer S, Ziegler DS, Zimmermann S, Hawkins C, Malkin D, Bouffet E, Villani A, Tabori U. Survival benefit for individuals with constitutional mismatch repair deficiency undergoing surveillance. J Clin Oncol 39(25):2779-2790, 2021.
Hines MR, Keenan C, Maron Alfaro G, Cheng C, Zhou Y, Sharma A, Hurley C, Nichols KE, Gottschalk S, Triplett BM, Talleur AC. Hemophagocytic lymphohistiocytosis-like toxicity (carHLH) after CD19-specific CAR T-cell therapy. Br J Haematol 194(4):701-707, 2021.
Newman S, Nakitandwe J, Kesserwan CA, Azzato EM, Wheeler DA, Rusch M, Shurtleff S, Hedges DJ, Hamilton KV, Foy SG, Edmonson MN, Thrasher A, Bahrami A, Orr BA, Klco JM, Gu J, Harrison LW, Wang L, Clay MR, Ouma A, Silkov A, Liu Y, Zhang Z, Liu Y, Brady SW, Zhou X, Chang TC, Pande M, Davis E, Becksfort J, Patel A, Wilkinson MR, Rahbarinia D, Kubal M, Maciaszek JL, Pastor V, Knight J, Gout AM, Wang J, Gu Z, Mullighan CG, McGee RB, Quinn EA, Nuccio R, Mostafavi R, Gerhardt EL, Taylor LM, Valdez JM, Hines-Dowell SJ, Pappo AS, Robinson G, Johnson LM, Pui CH, Ellison DW, Downing JR, Zhang J, Nichols KE. Genomes for Kids: The scope of pathogenic mutations in pediatric cancer revealed by comprehensive DNA and RNA sequencing. Cancer Discov Jul 23, 2021.
Li Y, Yang W, Devidas M, Winter SS, Kesserwan C, Yang W, Dunsmore KP, Smith C, Qian M, Zhao X, Zhang R, Gastier-Foster JM, Raetz EA, Carroll WL, Li C, Liu PP, Rabin KR, Sanda T, Mullighan CG, Nichols KE, Evans WE, Pui CH, Hunger SP, Teachey DT, Relling MV, Loh ML, Yang JJ. Germline RUNX1 variation and predisposition to childhood acute lymphoblastic leukemia. J Clin Invest Jun 24, 2021.
Mandrell BN, Gattuso JS, Pritchard M, Caples M, Howard Sharp KM, Harrison L, Ouma AA, Valdez JM, Johnson LM, Nichols KE. Knowledge is power: Benefits, risks, hopes, and decision-making reported by parents consenting to next-generation sequencing for children and adolescents with cancer. Semin Oncol Nurs 37(3):151167, 2021.
Huarte E, Peel MT, Verbist K, Fay BL, Bassett R, Albeituni S, Nichols KE, Smith PA. Ruxolitinib, a JAK1/2 inhibitor, ameliorates cytokine storm in experimental models of hyperinflammation syndrome. Front Pharmacol 12:650295, 2021.
Upadhyaya SA, Robinson G, Onar-Thomas A, Orr BA, Johann P, Wu G, Billups CA, Tatevossian RG, Dhanda SK, Srinivasan A, Broniscer A, Qaddoumi I, Vinitsky A, Armstrong GT, Bendel A, Hassall TE, Partap S, Fisher PG, Crawford JR, Chintagumpala MM, Bouffet E, Gururangan S, Mostafavi R, Sanders RP, Klimo P, Patay Z, Indelicato DJ, Nichols KE, Boop FA, Merchant TE, Kool M, Ellison DW, Gajjar A. Relevance of molecular groups in children with newly diagnosed atypical teratoid rhabdoid tumor: Results from prospective St. Jude multi-institutional trials. Clin Cancer Res 27(10):2879-2889, 2021.
Murray AK, McGee RB, Mostafavi RM, Wang X, Lu Z, Valdez JM, Terao MA, Nichols KE. Creating a cancer genomics curriculum for pediatric hematology-oncology fellows: A national needs assessment. Cancer Med 10(6):2026-2034, 2021.
Schwartz JR, Ma J, Kamens J, Westover T, Walsh MP, Brady SW, Michael JR, Chen X, Montefiori L, Song G, Wu G, Wu H, Branstetter C, Hiltenbrand R, Walsh MF, Nichols KE, Maciaszek JL, Liu Y, Kumar P, Easton J, Newman S, Rubnitz JE, Mullighan CG, Pounds S, Zhang J, Gruber T, Ma X, Klco JM. The acquisition of molecular drivers in pediatric therapy-related myeloid neoplasms. Nat Commun 12(1):985, 2021.
Salek M, Oak N, Hines MR, Maciaszek JL, Tatevossian R, Sharma A, Nichols KE, Campbell PK. Development of BRAFV600E-positive acute myeloid leukemia in a patient on long-term dabrafenib for multisystem LCH. Blood Adv Jan 7, 2021.
Das A, Sudhaman S, Morgenstern D, Coblentz A, Chung J, Stone SC, Alsafwani N, Liu ZA, Karsaneh OAA, Soleimani S, Ladany H, Chen D, Zatzman M, Cabric V, Nobre L, Bianchi V, Edwards M, Sambira Nahum LC, Ercan AB, Nabbi A, Constantini S, Dvir R, Yalon-Oren M, Campino GA, Caspi S, Larouche V, Reddy A, Osborn M, Mason G, Lindhorst S, Bronsema A, Magimairajan V, Opocher E, De Mola RL, Sabel M, Frojd C, Sumerauer D, Samuel D, Cole K, Chiaravalli S, Massimino M, Tomboc P, Ziegler DS, George B, Van Damme A, Hijiya N, Gass D, McGee RB, Mordechai O, Bowers DC, Laetsch TW, Lossos A, Blumenthal DT, Sarosiek T, Yen LY, Knipstein J, Bendel A, Hoffman LM, Luna-Fineman S, Zimmermann S, Scheers I, Nichols KE, Zapotocky M, Hansford JR, Maris JM, Dirks P, Taylor MD, Kulkarni AV, Shroff M, Tsang DS, Villani A, Xu W, Aronson M, Durno C, Shlien A, Malkin D, Getz G, Maruvka YE, Ohashi PS, Hawkins C, Pugh TJ, Bouffet E, Tabori U. Genomic predictors of response to PD-1 inhibition in children with germline DNA replication repair deficiency. Nat Med Jan 6, 2021.
Steen EA, Hermiston ML, Nichols KE, Meyer LK. Digenic inheritance: Evidence and gaps in hemophagocytic lymphohistiocytosis. Front Immunol 12:777851, 2021.
McLeod C, Gout AM, Zhou X, Thrasher A, Rahbarinia D, Brady SW, Macias M, Newman S, Birch K, Finkelstein D, Sunny J, Mudunuri R, Orr BA, Treadway M, Davidson B, Ard T, Chiao A, Swistak A, Wiggins S, Foy S, Wang J, Sioson E, Wang S, Michael JR, Liu Y, Ma X, Patel A, Edmonson MN, Wilkinson M, Frantz A, Chang T-C, Tian L, Lei S, S. M. Islam A, Meyer C, Thangaraj N, Tater P, Kandali V, Ma S, Nguyen T, Serang O, McGuire I, Robison N, Gentry D, Tang X, Palmer L, WuG, Suh E, Tanner L, McMurry J, Lear M, Pappo A, Wang Z, Wilson C, Cheng Y, Meshinchi S, Alexandrov LB, Weiss M, Armstrong GT, Robison LL, Yasui Y, Nichols KE, Ellison DW, Bangur C, Mullighan CG, Baker SJ, Dyer M, Miller G, Rusch M, Daly R, Perry K, Downing JR, Zhang J. St. Jude Cloud-a Pediatric Cancer Genomic Data Sharing Ecosystem. Cancer Discovery 2021. doi: 10.1158/2159-8290. PMID: 33408242
Last update: August 2023