Selected Publications

Schoeman S, Escobar F, Krieger P, MacFarland SP, Mattei P, Rungsiprakarn P, Srinivasan A, Acord M: Image-guided biopsy for the diagnosis and molecular profiling of hepatoblastoma.[epub] Pediatric Blood and Cancer 72(4), April 2025.

Achatz MI, Villani A, Bertuch AA, Bougeard G, Chang VY, Doria AS, Gallinger B, Godley LA, Greer MC, Kamihara J, Khincha PP, Kohlmann WK, Kratz CP, MacFarland SP, Maese LD, Maxwell KN, Mitchell SG, Nakano Y, Pfister SM, Wasserman JD, Woodward ER, Garber JE, Malkin D: Update on cancer screening recommendations for individuals with Li-Fraumeni Syndrome.[epub] Clinical Cancer Research March 2025.

Nirgude S, Tichy ED, Liu Z, Kavari SL, Pradieu RD, Byrne M, Yang F, Gil-de-Gomez L, Mamou B, Bernt KM, Yang W, MacFarland SP, Xie M, Kalish JM: Single-nucleus multiomic analysis of Beckwith-Wiedemann syndrome liver reveals PPARA signaling enrichment and metabolic dysfunction Commun Biol 8(1): 495, March 2025.

Perrino MR, Jongmans MCG, Tomlinson GE, Greer MC, Scollon SR, Mitchell SG, Hansford JR, Schultz KAP, Kohlman WK, Kalish JM, MacFarland SP, Das A, Maxwell KN, Pfister SM, Weksberg R, Michaeli O, Tabori U, Ney GM, Lupo PJ, Brzezinski JJ, Stewart DR, Woodward ER, Kratz CP: Update on cancer and central nervous system tumor surveillance in pediatric NF2-, SMARCB1-, and LZTRI-related schwannomatosis.[epub]. Clinical Cancer Research February 2025.

Fernandez CJ, Du YK, Naumer A, Kagami LA, Le A, Good M, Duvall M, Powers J, Zelley K, Maese L, MacFarland SP, Kohlmann W, Maxwell KN, Katona BW: Pancreatic cancer risk and screening outcomes in Li-Fraumeni Syndrome.[epub] Pancreas February 2025.

Michaeli O, Kim SY, Mitchell SG, Jongmans MCJ, Wasserman JD, Perrino MR, Das A, Macfarland SP, Scollon SR, Greer MC, Sobriera N, Gallinger B, Lupo PJ, Malkin D, Schneider KW, Schultz KAP, Foulkes WD, Woodward ER, Stewart DR: Update on cancer screening in children with syndromes of bone lesions, hereditary leimyomatosis, and renal cell carcinoma syndrome, and other rare syndromes Clinical Cancer Research 31(3): 457-465, February 2025.

Dhawan A, Baitamouni S, Liu D, Yehia L, Anthony K, McCarther A, Tischkowitz M, MacFarland SP, Ngeow J, Hoogerbrugge N, Eng C: Cancer and overgrowth manifestations of PTEN hamartoma tumor syndrome: Management recommendations from the International PHTS Consensus Guidelines Working Group.[epub] Clinical Cancer Rsearch February 2025.

Brzezinski JJ, Becktell KD, Bougerard G, Brodeur GM, Diller LR, Doria AS, Hansford JR, Kohlmann WK, Kratz CP, MacFarland SP, Pajtler KW, Rednam SP, Schienda J, States LJ, Villani A, Weksberg R, Zelley K, Tomlinson GE, Kalish JM: Update on surveillance in emerging Wilms tumor predisposition syndromes Clinical Cacner Research 31(1): 18-24, January 2025.

Mutua S, Sevagamoorthy A, Woidil S, Orchard PJ, Gavassi F, MacFarland SP, Russo P, Vanderver A, Adang LA: Characterization of gallbladder disease in metachromatic leukodystrophy across the lifespan. Mol Genet Metab 144(1): 109003, January 2025.

Schultz KAP, MacFarland SP, Perrino MR, Mitchell SG, Kamihara J, Nelson AT, Mallinger PHR, Brzezinski J, Maxwell KN, Woodward ER, Gallinger B, Kim SY, Greer MLC, Schneider KW, Scollon SR, Das A, Wasserman JD, Eng C, Malkin D, Foulkes WD, Michaeli O, Bauer AJ, Stewart DR: Update on pediatric surveillance recommendations for PTEN hamartoma tumor syndrome, DICER1-related tumor predisposition, and Tuberous Sclerosis Complex. Clinical Cancer Research 31(2): 234-244, January 2025.