An American patient with polyposis carrying a Scandinavian AXIN2 pathogenic variant

por Macklin-Mantia, Sarah K., Riegert-Johnson, Douglas L.
Publicado 2020

Retrospective review of outcomes in patients with DNA-damage repair related pancreatic cancer

por Macklin-Mantia, Sarah K., Hines, Stephanie L., Kasi, Pashtoon M.
Publicado 2020

Functional validation of a novel AAAS variant in an atypical presentation of Allgrove syndrome

por Macke, Erica L., Morales‐Rosado, Joel A., Macklin‐Mantia, Sarah K., Schmitz, Christopher T., Oskarsson, Björn, Klee, Eric W., Wierenga, Klaas J.
Publicado 2022

Case report expanding the germline AXIN2- related phenotype to include olfactory neuroblastoma and gastric adenoma

por Macklin- Mantia, Sarah K., Hines, Stephanie L., Chaichana, Kaisorn L., Donaldson, Angela M., Ko, Stephen L., Zhai, Qihui, Samadder, Niloy Jewel, Riegert-Johnson, Douglas L.
Publicado 2020