Shawn E. Parnell

Mutations in <i>EXOSC2</i> are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestalt

Nataliya Di Donato, Teresa Neuhann, Anne-Karin Kahlert et al. · Journal of Medical Genetics · 2016 · 97 citations

Life Sciences, Genetics, Molecular Genetics +17

Best practices in the evaluation and treatment of foramen magnum stenosis in achondroplasia during infancy

Klane K. White, Viviana Bompadre, Michael J. Goldberg et al. · American Journal of Medical Genetics Part A · 2015 · 74 citations

Medicine, Surgery, Craniofacial Surgery +8

Is there a correlation between sleep disordered breathing and foramen magnum stenosis in children with achondroplasia?

Klane K. White, Shawn E. Parnell, Yemiserach Kifle et al. · American Journal of Medical Genetics Part A · 2015 · 43 citations

Medicine, Neurological Surgery, Pediatric Neurosurgery +13

Hepatic Epitheloid Hemangioendothelioma: Multiphase CT Appearance and Correlation with Pathology

Manjiri Dighe, Shawn E. Parnell, Matthew M. Yeh et al. · Critical Reviews in Diagnostic Imaging · 2004 · 30 citations

Medicine, Pathology, Radiology +13

Elevated fluoride levels and periostitis in pediatric hematopoietic stem cell transplant recipients receiving long‐term voriconazole

Katherine Tarlock, Darren Johnson, Cathy Cornell et al. · Pediatric Blood & Cancer · 2014 · 23 citations · Full text

Medicine, Pediatrics, Pharmacology +14