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Sarah K. Macklin‐Mantia

Observed names: Macklin-Mantia, Sarah, Sarah K. Macklin- Mantia, Sarah K. Macklin-Mantia, Sarah K. Mantia, Sarah Macklin-Mantia, Sarah Mantia‐Macklin
ORCID: 0000-0001-5141-3321
Observed ORCID: 0000-0001-5141-3321
OpenAlex ID: A5064481454
Comparison of Universal Genetic Testing vs Guideline-Directed Targeted Testing for Patients With Hereditary Cancer Syndrome
2020 · N. Jewel Samadder, Douglas Riegert-Johnson, et al. · JAMA Oncology · 307
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Impact of integrated translational research on clinical exome sequencing
2020 · Eric W. Klee, Margot A. Cousin, et al. · Genetics in Medicine · 57
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Bi-allelic variants in HMGCR cause an autosomal-recessive progressive limb-girdle muscular dystrophy
2023 · Joel A. Morales-Rosado, Tanya L. Schwab, et al. · The American Journal of Human Genetics · 37
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Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study
2021 · Eden V. Haverfield, Edward D. Esplin, et al. · BMC Medicine · 36
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Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice
2023 · Sarah E. Sheppard, Laura Bryant, et al. · Science Advances · 18
Case report expanding the germline AXIN2- related phenotype to include olfactory neuroblastoma and gastric adenoma
2020 · Sarah K. Macklin- Mantia, Stephanie L. Hines, et al. · BMC Medical Genetics · 16
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Mayo Clinic Tapestry Study
2024 · Lorelei A. Bandel, Robert A. Vierkant, et al. · Mayo Clinic Proceedings · 15
AXIN2‐related oligodontia‐colorectal cancer syndrome with cleft palate as a possible new feature
2023 · Laura Roht, Hanne K. Hyldebrandt, et al. · Molecular Genetics & Genomic Medicine · 12
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Impact of integrated translational research on clinical exome sequencing
2023 · Eric W. Klee, Margot A. Cousin, et al. · Genetics in Medicine · 8
Patient uptake of updated genetic testing following uninformative BRCA1 and BRCA2 results
2022 · Sarah K. Macklin‐Mantia, Kristin E. Clift, et al. · Journal of Genetic Counseling · 6
Comparison of a Focused Family Cancer History Questionnaire to Family History Documentation in the Electronic Medical Record
2022 · Kristin Clift, Sarah Macklin-Mantia, et al. · Journal of Primary Care & Community Health · 6
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The Importance of Offering Genetic Counseling and Testing to All Persons Diagnosed With Frontotemporal Degeneration Spectrum Disorders
2025 · Laynie Dratch, Kim Jenny, et al. · Neurology · 5
Correction to: Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study
2021 · Eden V. Haverfield, Edward D. Esplin, et al. · BMC Medicine · 5
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Retrospective review of outcomes in patients with DNA-damage repair related pancreatic cancer
2020 · Sarah K. Macklin-Mantia, Stephanie L. Hines, et al. · Hereditary Cancer in Clinical Practice · 5
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An American patient with polyposis carrying a Scandinavian AXIN2 pathogenic variant
2020 · Sarah K. Macklin-Mantia, Douglas L. Riegert-Johnson · Hereditary Cancer in Clinical Practice · 5
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Functional validation of a novel AAAS variant in an atypical presentation of Allgrove syndrome
2022 · Erica L. Macke, Joel A. Morales‐Rosado, et al. · Molecular Genetics & Genomic Medicine · 3
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MRI phenotypes associated with breast cancer predisposing genetic variants, a multisite review
2023 · Santo Maimone, Laura K. Harper, et al. · European Journal of Radiology · 2
Identification of individuals at high-risk for pancreatic cancer using a digital patient-input tool combining family cancer history screening and new-onset diabetes
2023 · Derk C.F. Klatte, Kristin E. Clift, et al. · Preventive Medicine Reports · 2
The Importance of Offering Genetic Counseling and Testing to All Persons Diagnosed With Frontotemporal Degeneration Spectrum Disorders
2025 · Laynie Dratch, Kim Jenny, et al. · Neurology
Works count: 25
Citation count: 545
H-index: 8
I10-index: 8
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