Shahnaz Ghahremani

Expanding the phenotype of mutations in DICER1: mosaic missense mutations in the RNase IIIb domain of <i>DICER1</i> cause GLOW syndrome

Steven D. Klein, Hane Lee, Shahnaz Ghahremani et al. · Journal of Medical Genetics · 2014 · 80 citations · Full text

De novo loss‐of‐function variants in <i>STAG2</i> are associated with developmental delay, microcephaly, and congenital anomalies

Sureni V. Mullegama, Steven D. Klein, Milene Mulatinho et al. · American Journal of Medical Genetics Part A · 2017 · 53 citations · Full text

Genetics, Congenital Anomalies, Molecular Genetics +17

Free-breathing quantification of hepatic fat in healthy children and children with nonalcoholic fatty liver disease using a multi-echo 3-D stack-of-radial MRI technique

Tess Armstrong, Karrie V. Ly, Smruthi Murthy et al. · Pediatric Radiology · 2018 · 50 citations

Obesity, Metabolic Syndrome, Body Composition +14

Integration of Chest CT CAD into the Clinical Workflow and Impact on Radiologist Efficiency

Matthew S. Brown, Patrick D. Browning, Muhammad Wahi‐Anwar et al. · Academic Radiology · 2018 · 28 citations

Computed Tomography, Clinical Workflow, Medical Imaging +12

Truncating mutations in <i>APP</i> cause a distinct neurological phenotype

Steven D. Klein, Alexander Goldman, Hane Lee et al. · Annals of Neurology · 2016 · 25 citations · Full text

Amyloid β, Brain Development, Genetics +23