Sarah M. Robbins

Natural history of Ollier disease and Maffucci syndrome: Patient survey and review of clinical literature

Jad M. El Abiad, Sarah M. Robbins, Bernard A. Cohen et al. · American Journal of Medical Genetics Part A · 2020 · 87 citations · Full text

Loss of carbonic anhydrase XII function in individuals with elevated sweat chloride concentration and pulmonary airway disease

Melissa Lee, Briana Vecchio-Pagán, Neeraj Sharma et al. · Human Molecular Genetics · 2016 · 43 citations · Full text

Genetics, Genetic Epidemiology, Pathology +22

Identification of <i>STAC3</i> variants in non‐Native American families with overlapping features of Carey–Fineman–Ziter syndrome and Moebius syndrome

Aida Telegrafi, Bryn D. Webb, Sarah M. Robbins et al. · American Journal of Medical Genetics Part A · 2017 · 37 citations · Full text

Language Access and Health Equity: Changes under the Affordable Care Act

Bethany Applebaum, Sarah M. Robbins · Journal of Health Care for the Poor and Underserved · 2016 · 14 citations

Health Care Disparity, Health Reform, Education +20

Defect in phosphoinositide signalling through a homozygous variant in <i>PLCB3</i> causes a new form of spondylometaphyseal dysplasia with corneal dystrophy

Salma Ben‐Salem, Sarah M. Robbins, Nara L. M. Sobreira et al. · Journal of Medical Genetics · 2017 · 12 citations · Full text