EC
Elisa Cali
University College London, University of Genoa
Research areas: Biochemistry, Genetics and Molecular Biology · Genetics · Genomics and Rare Diseases · Genetics and Neurodevelopmental Disorders · Hereditary Neurological Disorders
0000-0001-9826-4490
Employment
Employment history is unavailable.
Education
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University College London Doctor of Philosophy2021 - 2024
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University of Genoa Medical Doctor2014 - 2020
Projects & Funding
Projects & funding information is unavailable.
Publications (33)
- Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders Save
- Clinical and neurogenetic characterisation of autosomal recessive RBL2-associated progressive neurodevelopmental disorder Save
- Leukoencephalopathy caused by a 17p13.3 microdeletion. Save
- Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome. Save
- Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders. Save
- The Cardiofaciocutaneous Syndrome: From Genetics to Prognostic–Therapeutic Implications Save
- ATP6V1B2-related disorders featuring Lennox-Gastaut-syndrome: A case-based overview Save
- Expanding the phenotypic spectrum of CLCN2-related leucoencephalopathy and ataxia. Save
- A PAK1 Mutational Hotspot Within the Regulatory CRIPaK Domain is Associated With Severe Neurodevelopmental Disorders in Children. Save
- Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy. Save
- White matter abnormalities in 15 subjects with SPG76. Save
- Genetic Investigation of Consanguineous Pakistani Families Segregating Rare Spinocerebellar Disorders Save
- The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia: SPG15. Save
- Twist exome capture allows for lower average sequence coverage in clinical exome sequencing. Save
- Real-time insight into the multistage mechanism of nanoparticle exsolution from a perovskite host surface. Save
- A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing. Save
- Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities Save
- Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia. Save
- A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease Save
- Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy. Save