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RAFFAELLA MINARDI

IRCCS Istituto Delle Scienze Neurologiche di Bologna

Italy

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Research Interests

Neurology

80%

Biostatistics

20%

Medical Science

70%

Epileptology

70%

Rare Disease

30%

Clinical Neurophysiology

20%

Genomic

20%

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Articles10

Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals

Article Link

Year:

2021

Shared genetic basis between genetic generalized epilepsy and background electroencephalographic oscillations

Article Link

Year:

2021

Epilepsy in MT-ATP6 - related mils/NARP: correlation of elettroclinical features with heteroplasmy.

Article Link

Year:

2021

Epilepsy with auditory features: Contribution of known genes in 112 patients

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Year:

2021

Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects

Article Link

Year:

2020

Accurate Detection of Hot-Spot MTOR Somatic Mutations in Archival Surgical Specimens of Focal Cortical Dysplasia by Molecular Inversion Probes

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Year:

2020

Autosomal dominant lateral temporal lobe epilepsy associated with a novel reelin mutation.

Article Link

Year:

2020

Whole‐exome sequencing in adult patients with developmental and epileptic encephalopathy: it is never too late

Article Link

Year:

2020

Gene Panel Analysis in a Large Cohort of Patients With Autosomal Dominant Polycystic Kidney Disease Allows the Identification of 80 Potentially Causative Novel Variants and the Characterization of a Complex Genetic Architecture in a Subset of Families

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Year:

2020

Epilepsy with eyelid myoclonias and Sotos syndrome features in a patient with compound heterozygous missense variants in APC2 gene

Article Link

Year:

2020

Collaborators6

Tarja Linnankivi

Helsinki University Hospital

FINLAND

Lynette Sadleir

University of Otago

NEW ZEALAND

Elmo Saarentaus

University of Helsinki

FINLAND

Laura Licchetta

University of Bologna

ITALY

Francesca Bisulli

University of Bologna

ITALY

Seo-Kyung Chung

Associate Professor

University of Sydney

AUSTRALIA

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