Sarah K. Macklin-Mantia

Comparison of Universal Genetic Testing vs Guideline-Directed Targeted Testing for Patients With Hereditary Cancer Syndrome.

R. Nussbaum, A. Bryce, N. Samadder, 2020, JAMA oncology.

An American patient with polyposis carrying a Scandinavian AXIN2 pathogenic variant

D. Riegert-Johnson, Sarah K. Macklin-Mantia, 2020, Hereditary Cancer in Clinical Practice.

Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study

R. Nussbaum, K. Ormond, S. Aradhya, 2021, BMC Medicine.

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

Sarah K Macklin-Mantia, P. Kasi, S. Hines, 2019, Hereditary cancer in clinical practice.

Impact of integrated translational research on clinical exome sequencing

Gavin R. Oliver, Tammy M. McAllister, M. Zimmermann, 2020, Genetics in Medicine.

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

K. Wierenga, E. Klee, Björn Oskarsson, 2021, Molecular genetics & genomic medicine.

Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice

Ellen F. Macnamara, J. Constantino, J. Graham, 2023, Science advances.

Correction to: Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study

R. C. Green, R. Nussbaum, K. Ormond, 2021, BMC Medicine.

Comparison of a Focused Family Cancer History Questionnaire to Family History Documentation in the Electronic Medical Record

Kristin E Clift, Sarah K Macklin-Mantia, Margaret Barnhorst, 2022, Journal of primary care & community health.