Carly E. Siskind
Stanford Health Care(US)Stanford Medicine(US)
Publications by Year
Research Areas
Hereditary Neurological Disorders, Genetic Neurodegenerative Diseases, Botulinum Toxin and Related Neurological Disorders, Neurological diseases and metabolism, Neurogenetic and Muscular Disorders Research
Most-Cited Works
- → Charcot‐marie‐tooth disease subtypes and genetic testing strategies(2011)521 cited
- → CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis(2014)338 cited
- → MFN2 mutations cause severe phenotypes in most patients with CMT2A(2011)216 cited
- → Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes(2020)172 cited
- → CMT1X phenotypes represent loss of GJB1 gene function(2007)155 cited
- → Exome sequencing allows for rapid gene identification in a Charcot‐Marie‐Tooth family(2011)123 cited
- → Genotype–phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene(2015)106 cited
- → Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study(2020)88 cited
- → PMP22 expression in dermal nerve myelin from patients with CMT1A(2009)72 cited
- → Phenotype expression in women with CMT1X(2011)55 cited