Elisa Calì

Twist exome capture allows for lower average sequence coverage in clinical exome sequencing

Burcu Yaldız, Erdi Küçük, Juliet E. Hampstead et al. · Human Genomics · 2023 · 26 citations · Full text

Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia

Heba Morsy, Mehdi Benkirane, Elisa Calì et al. · Genetics in Medicine · 2022 · 25 citations · Full text

Neurological Disorder, Spastic Paraplegia, From Epileptic Encephalopathy +6

The clinical and molecular spectrum of <i>ZFYVE26</i>-associated hereditary spastic paraplegia: SPG15

Afshin Saffari, Melanie Kellner, Catherine Jordan et al. · Brain · 2022 · 22 citations · Full text

Pain Disorders, Neurological Disorder, Genetic Epidemiology +16

Loss of Neuron Navigator 2 Impairs Brain and Cerebellar Development

Andrea Accogli, Shenzhao Lu, Ilaria Musante et al. · The Cerebellum · 2022 · 20 citations · Full text

Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy

Joohyun Park, Arianna Tucci, Valentina Cipriani et al. · Genetics in Medicine · 2022 · 17 citations

Neurodegenerative Diseases, Mendelian Disorder, Genetic Disorder +9