Sabrina W. Yum
Children's Hospital of Philadelphia(US)
Publications by Year
Research Areas
Hereditary Neurological Disorders, Neurogenetic and Muscular Disorders Research, Muscle Physiology and Disorders, Genetic Neurodegenerative Diseases, Connexins and lens biology
Most-Cited Works
- → An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge(2014)432 cited
- → CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis(2014)338 cited
- → Alteration in extracellular amino acids after traumatic spinal cord injury(1990)285 cited
- → Janus Kinase Inhibition in the Aicardi–Goutières Syndrome(2020)185 cited
- → Acute flaccid myelitis: cause, diagnosis, and management(2020)175 cited
- → Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes(2020)172 cited
- → Central nervous system dysfunction in a mouse model of Fa2h deficiency(2011)131 cited
- → Acute Disseminated Encephalomyelitis in Children: Discordant Neurologic and Neuroimaging Abnormalities and Response to Plasmapheresis(2005)130 cited
- → Diverse Trafficking Abnormalities of Connexin32 Mutants Causing CMTX(2002)127 cited
- → Cellular mechanisms of connexin32 mutations associated with CNS manifestations(2002)115 cited