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Elisa Calì · SciRah

Researcher profile · Semantic Scholar

Elisa Calì

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Elisa Calì — researcher profile on SciRah

h-index: 12
Works: 38
Citations: 369

Most-cited papers

Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia
H. Morsy, M. Benkirane, Elisa Calì, C. Rocca +120 more
2022Genetics in Medicine25 citations Open access
Semantic Scholar
Twist exome capture allows for lower average sequence coverage in clinical exome sequencing
B. Yaldiz, Erdi Kucuk, J. Hampstead, T. Hofste +296 more
2023Human Genomics24 citations Open access
Semantic Scholar
Epileptic Phenotypes Associated With SNAREs and Related Synaptic Vesicle Exocytosis Machinery
Elisa Calì, C. Rocca, V. Salpietro, H. Houlden
2022Frontiers in Neurology24 citations Open access
Semantic Scholar
Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy.
Joohyun Park, A. Tucci, V. Cipriani, G. Demidov +45 more
2022Genetics in Medicine23 citations Open access
Semantic Scholar
Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders
R. Maroofian, R. Kaiyrzhanov, Elisa Calì, M. Zamani +82 more
2023Brain : a journal of neurology22 citations Open access
Semantic Scholar
The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia: SPG15.
Afshin Saffari, Melanie Kellner, Catherine Jordan, Helena Rosengarten +30 more
2022Brain : a journal of neurology22 citations Open access
Semantic Scholar
The Cardiofaciocutaneous Syndrome: From Genetics to Prognostic–Therapeutic Implications
Giovanna Scorrano, Emanuele David, Elisa Calì, R. Chimenz +9 more
2023Genes20 citations Open access
Semantic Scholar
Biallelic Loss‐of‐Function NDUFA12 Variants Cause a Wide Phenotypic Spectrum from Leigh/Leigh‐Like Syndrome to Isolated Optic Atrophy
F. Magrinelli, Elisa Calì, V. Braga, U. Yiş +23 more
2021Movement Disorders Clinical Practice20 citations Open access
Semantic Scholar
Loss of Neuron Navigator 2 Impairs Brain and Cerebellar Development
A. Accogli, Shen-Zhao Lu, I. Musante, P. Scudieri +30 more
2022Cerebellum18 citations Open access
Semantic Scholar
A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease
Elisa Calì, Sheng-Jia Lin, C. Rocca, Y. Sahin +163 more
2022Genetics in Medicine17 citations Open access
Semantic Scholar
Genetic Investigation of Consanguineous Pakistani Families Segregating Rare Spinocerebellar Disorders
Saadia Maryam Saadi, Elisa Calì, Lubaba Bintee Khalid, Hammad Yousaf +14 more
2023Genes14 citations Open access
Semantic Scholar
Riboflavin transporter deficiency
Elisa Calì, N. Dominik, A. Manole, H. Houlden
2020Definitions14 citations Open access
Semantic Scholar
Prominent and Regressive Brain Developmental Disorders Associated with Nance-Horan Syndrome
C. Casto, V. Dipasquale, I. Ceravolo, A. Gambadauro +18 more
2021Brain Science12 citations Open access
Semantic Scholar
Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities
Elisa Calì, M. Suri, M. Scala, Matteo P. Ferla +63 more
2022Genetics in Medicine11 citations Open access
Semantic Scholar
A PAK1 Mutational Hotspot Within the Regulatory CRIPaK Domain is Associated With Severe Neurodevelopmental Disorders in Children.
Giovanna Scorrano, G. D'Onofrio, A. Accogli, M. Severino +22 more
2023Pediatric Neurology10 citations
Semantic Scholar
NOTCH2NLC Intermediate‐Length Repeat Expansion and Parkinson's Disease in Patients of European Descent
Wai Y. Yau, R. Sullivan, C. Rocca, Elisa Calì +3 more
2020Annals of Neurology10 citations
Semantic Scholar
Charcot Marie Tooth disease pathology is associated with mitochondrial dysfunction and lower glutathione production
Nafisa Komilova, Plamena R. Angelova, Elisa Calì, A. Scardamaglia +4 more
2025Cellular and Molecular Life Sciences9 citations Open access
Semantic Scholar
Bi-allelic variants in CHKA cause a neurodevelopmental disorder with epilepsy and microcephaly
Chiara Kloeckner, J. Murray, Mahtab Tavasoli, H. Sticht +25 more
2021medRxiv9 citations Open access
Semantic Scholar
Autosomal recessive VWA1-related disorder: comprehensive analysis of phenotypic variability and genetic mutations
Sara Nagy, A. Pagnamenta, Elisa Calì, Hilde M H Braakman +40 more
2024Brain Communications8 citations Open access
Semantic Scholar
Paroxysmal limb dystonias associated with GABBR2 pathogenic variant: A case-based literature review.
G. D'Onofrio, A. Riva, G. Di Rosa, Elisa Calì +9 more
2022Brain & development (Tokyo. 1979)8 citations Open access
Semantic Scholar
Expanding the mutational landscape and clinical phenotype of the YIF1B related brain disorder
Eva Medico Salsench, R. Maroofian, Ruizhi Deng, Kristina Lanko +32 more
2021Brain : a journal of neurology8 citations Open access
Semantic Scholar
Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome
Vincenzo Salpietro, R. Maroofian, M. Zaki, J. Wangen +187 more
2023American Journal of Human Genetics7 citations Open access
Semantic Scholar
Expanding the phenotypic spectrum of CLCN2-related leucoencephalopathy and ataxia
P. Nóbrega, A. R. B. de Paiva, K. S. Souza, J. L. D. de Souza +29 more
2023Brain Communications7 citations Open access
Semantic Scholar
ATP6V1B2-related disorders featuring Lennox-Gastaut-syndrome: A case-based overview.
Greta Amore, Elisa Calì, M. Spano, G. Ceravolo +6 more
2023Brain & development (Tokyo. 1979)6 citations Open access
Semantic Scholar
A complex epileptic and dysmorphic phenotype associated with a novel frameshift KDM5B variant and deletion of SCN gene cluster.
G. Mangano, Vincenzo Antona, Elisa Calì, Antonina Fontana +4 more
2022Seizure6 citations Open access
Semantic Scholar
Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders
Elisa Calì, Tania Quirin, C. Rocca, S. Efthymiou +125 more
2024Genetics in Medicine5 citations Open access
Semantic Scholar
Genotype–phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders
P. Borgia, S. Baldassari, N. Pedemonte, Ebba Alkhunaizi +31 more
2022Orphanet Journal of Rare Diseases4 citations Open access
Semantic Scholar
Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy.
Joohyun Park, A. Tucci, V. Cipriani, G. Demidov +47 more
2023Genetics in Medicine3 citations Open access
Semantic Scholar
Leukoencephalopathy caused by a 17p13.3 microdeletion
Charles Wade, Thomas Williams, R. Labrum, Yogen Patel +8 more
2023Journal of Neurology Neurosurgery & Psychiatry2 citations Open access
Semantic Scholar
P133: A homozygous recurrent in-frame deletion in MED22 causes a novel neurodevelopmental disorder
Elisa Calì
2023Genetics in Medicine Open1 citations Open access
Semantic Scholar
White matter abnormalities in 15 subjects with SPG76
Abdulrahman Alkhalifa, Shih-Cheng Chen, Z. Haşıloğlu, M. Filosto +18 more
2023Journal of Neurology1 citations
Semantic Scholar
Radiological Features of Joubert's Syndrome
Giovanni Stroscio, C. Cuppari, M. Ceravolo, A. Salpietro +8 more
2022Journal of Pediatric Neurology online1 citations Open access
Semantic Scholar
Clinical and genetic characterization of a progressive RBL2-associated neurodevelopmental disorder
G. Aughey, Elisa Calì, R. Maroofian, M. Zaki +52 more
2024Brain : a journal of neurology0 citations Open access
Semantic Scholar
Clinical and neurogenetic characterisation of autosomal recessive RBL2-associated progressive neurodevelopmental disorder
Gabriel N. Aughey, Elisa Calì, R. Maroofian, M. Zaki +40 more
2024medRxiv0 citations Open access
Semantic Scholar
P134: Biallelic pathogenic variants in ITFG2 are associated with a a syndromic megalencephalic neurodevelopmental syndrome
Elisa Calì
2023Genetics in Medicine Open0 citations Open access
Semantic Scholar
P135: Recurrent variants in subunits of the human mediator complex affect brain development and lead to severe neurodegenerative diseases
Elisa Calì
2023Genetics in Medicine Open0 citations Open access
Semantic Scholar
White Matter Involvement in SPG76. A Retrospective MRI Analysis of 11 Subjects. (P1-1.Virtual)
Abdulrahman Alkhalifa, Shihan Chen, M. Filosto, Elisa Calì +11 more
2022Neurology0 citations
Semantic Scholar
Dengue in Cali: Analysis of spatial dynamics and recommendations for the prevention and control of the disease
Elisa Calì, Juan C. Payan, Javier E. Thomas, Juddy H. Arias
0 citations
Semantic Scholar

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