Sarah K. Macklin‐Mantia

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

N. Jewel Samadder, Douglas L. Riegert‐Johnson, Deborah J. Rhodes et al. · JAMA Oncology · 2020 · 294 citations · Full text

Life Sciences, Genetics, Oncology +17

Impact of integrated translational research on clinical exome sequencing

Eric W. Klee, Margot A. Cousin, Filippo Pinto e Vairo et al. · Genetics in Medicine · 2020 · 65 citations · Full text

Life Sciences, Genetics, Translational Sciences +16

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

Eden Haverfield, Edward D. Esplin, Sienna Aguilar et al. · BMC Medicine · 2021 · 37 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Bi-allelic variants in HMGCR cause an autosomal-recessive progressive limb-girdle muscular dystrophy

Joel A. Morales‐Rosado, Tanya L. Schwab, Sarah K. Macklin‐Mantia et al. · The American Journal of Human Genetics · 2023 · 36 citations · Full text

Life Sciences, Genetics, Molecular Genetics +8

Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice

Sarah E. Sheppard, Laura Bryant, Rochelle N. Wickramasekara et al. · Science Advances · 2023 · 18 citations · Full text

Medicine, Genetics, Molecular Genetics +17