Selected Publications

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 May 2022.

Xu F, Aref-Eshghi E, Wu J, Schubert J, Wertheim G, Bhatti T, Pogoriler J, Patel M, Cao K, Long A, Fan Z, Denenberg EH, Fanning EA, Wilmoth DM, Conlin LK, Dain AS, Baldino S, Balamuth N, MacFarland S, Li MM, Zhong Y: A novel TP53 tandem duplication in a child with Li-Fraumeni Syndrome. Cold Spring Harbor Mol Case Stud 8(3), April 2022.

Leibowitz MS, Zelley K, Adams D, Brodeur GM, Fox E, Li MM, Mattei P, Pogoriler J, MacFarland SP: Neuroblastoma and cutaneous angiosarcoma in a child with PTEN hamartoma tumor syndrome. Pediatric Blood and Cancer March 2022.

Pinto EM, Maxwell KN, Halalsheh H, 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 Research 20(2): 207-216, Feb 2022.

Larsen Haidl J, MacFarland SP, Howe JR: Juvenile Polyposis Syndrome. GeneReviews Feb 2022.

Kagami L, Baldino S, MacFarland SP: Childhood cancer predisposition: An overview for the general pediatrician. Pediatric Annals 51(1): e15-e21, Jan 2022.

Duffy KA, Getz KD, Hathaway ER, Byrne ME, MacFarland SP, Kalish JM: Characteristics associated with tumor development in individuals diagnosed with Beckwith-Wiedemann Spectrum: Novel tumor-(epi)genotype-phenotype associations in the BWSp population. Genes 12(11): 1839, Nov 2021.

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 Sept 2021.

Baran, JA, Tsai SD, Isaza A, Brodeur GM, MacFarland SP, Zelley K, Adams DM, Franco AT, Bauer AJ: The Clinical Spectrum of PTEN Hamartoma Tumor Syndrome: Exploring the Value of Thyroid Surveillance. Horm Res Paediatr 22, April 2021.

Kundra, R, Zhang H, Kundra R, Zhang H, Sheridan R, Sirintrapun SJ, Wang A, Ochoa A, Wilson M, Gross B, Sun Y, Madupuri R, Satravada BA, Reales D, Vakiani E, Al-Ahmadie HA, Dogan A, Arcila M, Zehir A, Maron S, Berger MF, Viaplana C, Janeway K, Ducar M, Sholl L, Dogan S, Bedard P, Surrey LF, Sanchez IH, Syed A, Rema AB, Chakravarty D, Suehnholz S, Nissan M, Iyer GV, Murali R, Bouvier N, Soslow RA, Hyman D, Younes A, Intlekofer A, Harding JJ, Carvajal RD, Sabbatini PJ, Abou-Alfa GK, Morris L, Janjigian YY, Gallagher MM, Soumerai TA, Mellinghoff IK, Hakimi AA, Fury M, Huse JT, Bagrodia A, Hameed M, Thomas S, Gardos S, Cerami E, Mazor T, Kumari P, Raman P, Shivdasani P, MacFarland S, Newman S, Waanders A, Gao J, Solit D, Schultz N: OncoTree: A Cancer Classification Syndrome for Precision Oncology. JCO Clin Cancer Inform Feb 2021.