Selected Publications
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. 2023 Apr 3;29(7):1243-1251. doi: 10.1158/1078-0432.CCR-22-2482. PMID: 36693186.
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.
Howard Sharp KM, Jurbergs N, Ouma A, Harrison L, Gerhardt E, Taylor L, Hamilton K, McGee RB, Nuccio R, Quinn E, Hines-Dowell S, Kesserwan C, Sunkara A, Gattuso JS, Pritchard M, Mandrell B, Relling MV, Haidar CE, Kang G, Johnson LM, Nichols KE. Factors Associated with Declining to Participate in a Pediatric Oncology Next Generation Sequencing Study. JCO Precis Oncol 2020;4:202-211. doi: 10.1200/PO.19.00213. Epub 2020 Mar 24. PMID: 32395682; PMCID: PMC7213582.
Mandrell, B., Hines-Dowell, S. (2019- pending publication). Genetics and Genomics: Precision Health in Pediatric Oncology (Book Chapter). Pediatric Oncology Nursing: Defining Care Through Science. 1st Edition; Springer. Role-Co-First Author.
McNamara, E., Hines-Dowell, S. Mandrell, B. (2019 pending publication). Factors Affecting Nurses’ Competency and Confidence in Genetic and Genomic Heath Care: A Review of the Literature. Role-Co-First Author.
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. Enrichment of heterozygous germline RECQL4 loss-of-function variants in pediatric osteosarcoma. Cold Spring Harb Mol Case Stud. 2019 Oct 23;5(5):a004218. doi: 10.1101/mcs.a004218. PMID: 31604778; PMCID: PMC6824257.
Johnson, LM, Sykes, AD, Lu, Z, Valdez, JM, Gattuso, J, Gerhardt, E, Hamilton, KV, Harrison, LW, Hines-Dowell, SJ, Jurbergs, N, McGee, RB, Nuccio, R, Ouma, AA, Pritchard, M, Quinn, EA, Baker, JN, Mandrell, BN & Nichols, KE. (2019). Speaking genomics to parents offered germline testing for cancer predisposition: Use of a 2-visit consent model. Cancer, 125(14), 2455-2464. doi:10.1002/cncr.32071
Knight S, VanHouwelingen L, Cervi D, Clay MR, Corkins M, Hines-Dowell S, Hamilton KV, Mostafavi R, Ward J, Furman WL, Murphy AJ. Genitopatellar syndrome and neuroblastoma: The multidisciplinary management of a previously unreported association. Pediatr Blood Cancer. 2018 Aug 7:e27373. doi: 10.1002/pbc.27373. [Epub ahead of print]
Johnson LM, Valdez JM, Quinn EA, Sykes AD, McGee RB, Nuccio R, Hines-Dowell SJ, Baker JN, Kesserwan C, Nichols KE, Mandrell BN. Integrating next-generation sequencing into pediatric oncology practice: An assessment of physician confidence and understanding of clinical genomics. Cancer Jun 15;123(12):2352-2359, 2017. doi: 10.1002/cncr.30581. Epub 2017 Feb 13. PMID: 28192596
Zhang J*, Walsh MF*, Wu G*, Edmonson MN, Gruber TA, Easton J, Hedges D, Ma X, Zhou X, Yergeau DA, Wilkinson MR, Vadodaria B, Chen X, McGee RB, Hines-Dowell S, Nuccio R, Quinn E, Shurtleff SA, Rusch M, Patel A, Becksfort JB, Wang S, Weaver MS, Ding L, Mardis ER, Wilson RK, Gajjar A, Ellison DW, Pappo AS, Pui CH, Nichols KE*, Downing JR. Germline Mutations in Predisposition Genes in Pediatric Cancer. N Engl J Med Nov 18, 2015. Epub ahead of print. doi:10.1056/NEJMoa1508054. *Equal contribution
Tan QK, Stockton DW, Pivnick E, Choudhri AF, Hines-Dowell S, Pena LD, Deimling MA, Freemark MS, Kishnani PS. Premature pubarche in children with pompe disease. J Pediatr 166(4):1075-78, 2015.
Jones KL, Pivnick EK, Hines-Dowell S, Weese-Mayer DE, et al. A triple threat: Down syndrome, congenital central hypoventilation syndrome, and Hirschsprung disease. Pediatrics 130(5):e1382-4, 2012. doi: 10.1542/peds.2011-3844.
Hines-Dowell S, Lee S, Baskin S, Janecek A, Rhodes L, Gresham F. Osteogenesis Imperfecta Type VIII: a case report. J Neonatal Nurs 18(6):217-220, 2012. doi:10.1016/j.jnn.2011.11.009.
Carvalho MC, Ramocki MB, Pivnick E, Hines-Dowell S, et al. Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome. Nat Genet 43(11):1074–1081, 2011.
El-Hattab AW, Zhang F, Maxim R, Christensen MS, Ward JC, Dowell SH, et al. Deletion and Duplication of 15q24: molecular mechanisms and potential modifiers by additional CNVs. Genet Med 12(9):573-86, 2010.
Scott R, Pivnick EK, Dowell SH, Huang EY, Van den Veyver IB, Wang X, Eubanks JW III. Goltz syndrome: Report of two severs cases. BMJ Case Reports 2009. doi:10.1136/bcr.09.2008.0909.
Last update: August 2023