Sarah Macklin

Observed frequency and challenges of variant reclassification in a hereditary cancer clinic

Sarah Macklin, Nisha Durand, Paldeep S. Atwal et al. · Genetics in Medicine · 2017 · 104 citations · Full text

Life Sciences, Genetics, Oncology +14

Physician interpretation of variants of uncertain significance

Sarah Macklin, Jessica L. Jackson, Paldeep S. Atwal et al. · Familial Cancer · 2018 · 80 citations

Life Sciences, Internal Medicine, Diagnostic Reasoning +12

Case report: 5 year follow-up of adult late-onset mitochondrial encephalomyopathy with lactic acid and stroke-like episodes (MELAS)

Kiri Sunde, Patrick R. Blackburn, Anvir Cheema et al. · Molecular Genetics and Metabolism Reports · 2016 · 27 citations · Full text

Life Sciences, Molecular Genetics, Neurology +17

Molecular characterization of known and novel <i>ACVR1</i> variants in phenotypes of aberrant ossification

Aditi Gupta, Michael T. Zimmermann, Haitao Wang et al. · American Journal of Medical Genetics Part A · 2019 · 16 citations

Medicine, Genetics, Molecular Genetics +11

Measurement properties of the WHO Disability Assessment Schedule 2.0 for evaluating functional status after inpatient surgery

Julian F. Daza, Brian H. Cuthbertson, Paul S. Myles et al. · British journal of surgery · 2022 · 14 citations

Medicine, Orthopedic Surgery, Surgery +17