Carly E. Siskind

Charcot‐marie‐tooth disease subtypes and genetic testing strategies

A. Saporta, Stephanie L. Sottile, Lindsey J. Miller et al. · Annals of Neurology · 2011 · 520 citations

CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis

Vera Fridman, Brian N. Bundy, Mary M. Reilly et al. · Journal of Neurology Neurosurgery & Psychiatry · 2014 · 336 citations · Full text

<i>MFN2</i> mutations cause severe phenotypes in most patients with CMT2A

Shawna Feely, Matilde Laurá, Carly E. Siskind et al. · Neurology · 2011 · 214 citations · Full text

Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes

Andrea Cortese, Yi Zhu, Adriana Rebelo et al. · Nature Genetics · 2020 · 170 citations · Full text

Biallelic Mutations, Somatic Variant, Genetic Disorder +9

CMT1X phenotypes represent loss of <i>GJB1</i> gene function

Michael E. Shy, Carly E. Siskind, E. R. Swan et al. · Neurology · 2007 · 155 citations