Selected Publications

Klein SD, DeMarchis M, Linn RL, MacFarland SP, Kalish JM. : Occurance of hepatoblastoma in patients with Beckwith-Wiedemann Spectrum. Cancers 15(9): 2548, April 2023.

Ricarte-Filho JC, Casado-Medrano V, Reichenberger E, Spangler Z, Scheerer M, Isaza A, Baran J, Patel T, MacFarland SP, Brodeur GM, Stewart DR, Baloch Z, Bauer AJ, Wasserman JD, Franco AT. : DICER1 RNase IIIb domain mutations trigger widespread miRNA dysregulation and MAPK activation in pediatric thyroid cancer. Front Endocrinol 12(4), February 2023.

Newman H, Long JM, Zelley K, Baldino S, Li MM, Maxwell KN, MacFarland SP: Looking closely at overgrowth: Constitutional mosaicism in PTEN hamartoma tumor syndrome. Clin genetics 102(6): 557-559. December 2022.

Stundon, JL, Ijaz H, Gaonkar KS, Kaufman RS, Jin R, Karras AS, Vaksman Z, Kim J, Corbett RJ, Lueder MR, Miller DP, Guo Y, Santi M, Li M, Lopez G, Storm PB, Resnick AC, Waanders AJ, MacFarland SP, Stewart DR, Diskin SJ, Rokita JL, Cole KA: ALT in pediatric high-grade gliomas can occur without ATRX mutations and is enriched in patients with pathogenic germline MMR variants. Nero Oncol December 2022.

MacFarland, SP, Maese L, Rednam SP, Kamihara J, Perrino MR, Nichols KE, Brodeur GM, Schiffman JD, Plon SE, Diller LR, Malin D, Porter CC, Villani A: Collaboration to promote research and improve clinical care in the evolving field of childhood cancer predisposition. Cancer Prev Res 15(10): 645-652, October 2022.

Greed, B, Xie M, Brodeur GM, Cramer Z, Dent MH, Duvall M, Hamilton K, Howe J, Karakasheva T, Mamula P, Lengner C, MacFarland SP: Bone morphogenic protein receptor 2 (BMPR2) as a potential germline driver in Juvenile Polyposis Syndrome. SIOP Annual Meeting, Barcelona, Spain October 2022 Notes: Platform Presentation by S.MacFarland

Kagami, L, Du YK, Fernandes C, Le AN, Good M, Duvall M, Jennings S, Power J, Zelley K, Katona BW, MacFarland SP, Maxwell KN. : Rates of intervention and cancer detection in initial vs subsequent MRI screening in Li-Fraumeni Syndrome. Li-Fraumeni Syndrome Association: Reach 2022, Bethesda, MD October 2022 Notes: Poster.

Kagami, L, Du YK, Fernandes C, Le AN, Good M, Duvall M, Jennings S, Power J, Zelley K, Katona BW, MacFarland SP, Maxwell KN. : Rates of intervention and cancer detection in initial vs subsequent MRI screening in Li-Fraumeni Syndrome. SIOP Annual Meeting, Barcelona, Spain October 2022 Notes: Poster.

MacFarland, SP, Xie H, Dent MH, Greed B, Plon SE, Scollon SE, Brodeur GM, Howe JR: FOCAD indel in a family with Juvenile Polyposis Syndrome. J Pediatr Gastroenterol Nutr 75(1): 56-58, July 2022.

Flahive CB, Onuwka A, Bass LM, MacFarland SP, Minneci PC, Erdman SH: Characterizing pediatric familial adenomatous polyposis in patients undergoing colectomy in the United States. J Pediatrics(245), 117-122, June 2022.