Juvenile polyposis without a germline variant in SMAD4/BMPR1A: defining a clinically distinct polyposis syndrome

por MacFarland, Suzanne P., Katona, Bryson W.
Publicado 2021

Occurrence of Hepatoblastomas in Patients with Beckwith–Wiedemann Spectrum (BWSp)

por Klein, Steven D., DeMarchis, Madison, Linn, Rebecca L., MacFarland, Suzanne P., Kalish, Jennifer M.
Publicado 2023

Characteristics Associated with Tumor Development in Individuals Diagnosed with Beckwith–Wiedemann Spectrum: Novel Tumor-(epi)Genotype-Phenotype Associations in the BWSp Population...

por Duffy, Kelly A., Getz, Kelly D., Hathaway, Evan R., Byrne, Mallory E., MacFarland, Suzanne P., Kalish, Jennifer M.
Publicado 2021

A germline PALB2 pathogenic variant identified in a pediatric high-grade glioma

por Zhong, Yiming, Schubert, Jeffrey, Wu, Jinhua, Xu, Feng, Lin, Fumin, Cao, Kajia, Zelley, Kristin, Luo, Minjie, Foster, Jessica B., Cole, Kristina A., MacFarland, Suzanne P., Resnick, Adam C., Storm, Phillip B., Li, Marilyn M.
Publicado 2020

DICER1 RNase IIIb domain mutations trigger widespread miRNA dysregulation and MAPK activation in pediatric thyroid cancer

por Ricarte-Filho, Julio C., Casado-Medrano, Victoria, Reichenberger, Erin, Spangler, Zachary, Scheerer, Michele, Isaza, Amber, Baran, Julia, Patel, Tasleema, MacFarland, Suzanne P., Brodeur, Garrett M., Stewart, Douglas R., Baloch, Zubair, Bauer, Andrew J., Wasserman, Jonathan D., Franco, Aime T.
Publicado 2023

Clinical utility of custom-designed NGS panel testing in pediatric tumors

por Surrey, Lea F., MacFarland, Suzanne P., Chang, Fengqi, Cao, Kajia, Rathi, Komal S., Akgumus, Gozde T., Gallo, Daniel, Lin, Fumin, Gleason, Adam, Raman, Pichai, Aplenc, Richard, Bagatell, Rochelle, Minturn, Jane, Mosse, Yael, Santi, Mariarita, Tasian, Sarah K., Waanders, Angela J., Sarmady, Mahdi, Maris, John M., Hunger, Stephen P., Li, Marilyn M.
Publicado 2019

Alternative lengthening of telomeres (ALT) in pediatric high-grade gliomas can occur without ATRX mutation and is enriched in patients with pathogenic germline mismatch repair (MMR...

por Stundon, Jennifer L, Ijaz, Heba, Gaonkar, Krutika S, Kaufman, Rebecca S, Jin, Run, Karras, Anastasios, Vaksman, Zalman, Kim, Jung, Corbett, Ryan J, Lueder, Matthew R, Miller, Daniel P, Guo, Yiran, Santi, Mariarita, Li, Marilyn, Lopez, Gonzalo, Storm, Phillip B, Resnick, Adam C, Waanders, Angela J, MacFarland, Suzanne P, Stewart, Douglas R, Diskin, Sharon J, Rokita, Jo Lynne, Cole, Kristina A
Publicado 2022