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F. Calì · SciRah

Researcher profile · Semantic Scholar

F. Calì

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F. Calì — researcher profile on SciRah

h-index: 24
Works: 133
Citations: 4,198

Most-cited papers

Ancient human genomes suggest three ancestral populations for present-day Europeans
Iosif Lazaridis, N. Patterson, A. Mittnik, Gabriel Renaud +116 more
2013Nature1,377 citations Open access
Semantic Scholar
Identification of human D lactate dehydrogenase deficiency
G. Monroe, A. V. van Eerde, F. Tessadori, K. Duran +24 more
2019Nature Communications82 citations Open access
Semantic Scholar
The Role of Recent Admixture in Forming the Contemporary West Eurasian Genomic Landscape
G. Busby, G. Hellenthal, F. Montinaro, S. Tofanelli +24 more
2015Current Biology72 citations Open access
Semantic Scholar
Differential Greek and northern African migrations to Sicily are supported by genetic evidence from the Y chromosome
C. Di Gaetano, N. Cerutti, F. Crobu, C. Robino +12 more
2009European Journal of Human Genetics58 citations Open access
Semantic Scholar
Carrier screening for spinal muscular atrophy in Italian population
F. Calì, Giuseppa Ruggeri, V. Chiavetta, C. Scuderi +7 more
2014Journal Genetika50 citations
Semantic Scholar
Moors and Saracens in Europe: estimating the medieval North African male legacy in southern Europe
C. Capelli, V. Onofri, F. Brisighelli, I. Boschi +15 more
2009European Journal of Human Genetics42 citations Open access
Semantic Scholar
Sensory-Adapted Dental Environment for the Treatment of Patients with Autism Spectrum Disorder
A. Fallea, R. Zuccarello, M. Roccella, G. Quatrosi +3 more
2022Children39 citations Open access
Semantic Scholar
Assessing the Impact of Copy Number Variants on miRNA Genes in Autism by Monte Carlo Simulation
M. Marrale, N. Albanese, F. Calì, V. Romano
2014PLoS ONE34 citations Open access
Semantic Scholar
Functional Annotation of Genes Overlapping Copy Number Variants in Autistic Patients: Focus on Axon Pathfinding
S. Sbacchi, F. Acquadro, Ignazio Calò, F. Calì +1 more
2010Current Genomics33 citations Open access
Semantic Scholar
Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGM™ platform.
F. Calì, V. Chiavetta, Giuseppa Ruggeri, M. Piccione +21 more
2017European Journal of Medical Genetics32 citations
Semantic Scholar
The Greeks in the West: genetic signatures of the Hellenic colonisation in southern Italy and Sicily
S. Tofanelli, F. Brisighelli, P. Anagnostou, G. Busby +14 more
2015European Journal of Human Genetics32 citations Open access
Semantic Scholar
NGS Approaches in Clinical Diagnostics: From Workflow to Disease-Specific Applications
Desiree Brancato, Simone Treccarichi, Francesca Bruno, Elvira Coniglio +4 more
2025International Journal of Molecular Sciences31 citations
Semantic Scholar
Dental anxiety in patients with borderline intellectual functioning and patients with intellectual disabilities
A. Fallea, R. Zuccarello, F. Calì
2016BMC Oral Health29 citations Open access
Semantic Scholar
A de novo heterozygous mutation in KCNC2 gene implicated in severe developmental and epileptic encephalopathy.
L. Vetri, F. Calì, M. Vinci, C. Amato +6 more
2020European Journal of Medical Genetics28 citations
Semantic Scholar
A de novo ARIH2 gene mutation was detected in a patient with autism spectrum disorders and intellectual disability
M. Vinci, Simone Treccarichi, R. Galati Rando, A. Musumeci +5 more
2024Scientific Reports23 citations Open access
Semantic Scholar
STXBP6 Gene Mutation: A New Form of SNAREopathy Leads to Developmental Epileptic Encephalopathy
M. Vinci, C. Costanza, R. Galati Rando, Simone Treccarichi +6 more
2023International Journal of Molecular Sciences22 citations Open access
Semantic Scholar
Whole Exome Sequencing as a First-Line Molecular Genetic Test in Developmental and Epileptic Encephalopathies
L. Vetri, F. Calì, Salvatore Saccone, M. Vinci +5 more
2024International Journal of Molecular Sciences20 citations Open access
Semantic Scholar
Mutations in ACTL6B, coding for a subunit of the neuron-specific chromatin remodeling complex nBAF, cause early onset severe developmental and epileptic encephalopathy with brain hypomyelination and cerebellar atrophy
M. Fichera, P. Failla, Lucia Saccuzzo, M. Miceli +9 more
2019Human Genetics17 citations
Semantic Scholar
Interpreting Genetic Variants: Hints from a Family Cluster of Parkinson’s Disease
F. Calì, Mariagiovanna Cantone, F. Cosentino, G. Lanza +6 more
2018Journal of Parkinson's Disease16 citations
Semantic Scholar
Exon deletions of the phenylalanine hydroxylase gene in Italian hyperphenylalaninemics
F. Calì, Giuseppa Ruggeri, M. Vinci, C. Meli +8 more
2010Experimental and Molecular Medicine15 citations Open access
Semantic Scholar
Identification of a Novel Missense Mutation of POLR3A Gene in a Cohort of Sicilian Patients with Leukodystrophy
A. Musumeci, F. Calì, C. Scuderi, M. Vinci +8 more
2022Biomedicines14 citations Open access
Semantic Scholar
UNC5C: Novel Gene Associated with Psychiatric Disorders Impacts Dysregulation of Axon Guidance Pathways
Simone Treccarichi, P. Failla, M. Vinci, A. Musumeci +7 more
2024Genes13 citations Open access
Semantic Scholar
The Role of Recent Admixture in Forming the Contemporary West Eurasian Genomic Landscape (vol 25, pg 2518, 2015)
G. Busby, G. Hellenthal, F. Montinaro, S. Tofanelli +24 more
201513 citations
Semantic Scholar
Dissecting the Genetic Contribution of Tooth Agenesis
A. Fallea, M. Vinci, Simona L'Episcopo, Massimiliano Bartolone +4 more
2025International Journal of Molecular Sciences11 citations
Semantic Scholar
Fibroblast Growth Factor Receptor 2 (FGFR2), a New Gene Involved in the Genesis of Autism Spectrum Disorder
A. Nicotera, Greta Amore, Mariana Saia, M. Vinci +7 more
2023Neuromolecular medicine11 citations Open access
Semantic Scholar
MAN2A2-related glycosylation defects in autism and cognitive delay
Simone Treccarichi, M. Vinci, Lara Cirnigliaro, Angela Messina +8 more
2025Scientific Reports10 citations Open access
Semantic Scholar
A Customized Next-Generation Sequencing-Based Panel to Identify Novel Genetic Variants in Dementing Disorders: A Pilot Study
G. Lanza, F. Calì, M. Vinci, F. Cosentino +6 more
2020Journal of Neural Transplantation and Plasticity10 citations Open access
Semantic Scholar
Unraveling the Genetic and Molecular Architecture of Autism Spectrum Disorder: Implications for Clinical Genetics and Genomic Diagnostics
Simone Treccarichi, M. Vinci, Miriam Virgillito, A. Musumeci +12 more
2026International Journal of Molecular Sciences9 citations Open access
Semantic Scholar
PPP2R5E: New gene potentially involved in specific learning disorders and myopathy.
A. Musumeci, M. Vinci, Iris Verbinnen, Simone Treccarichi +8 more
2024Gene9 citations Open access
Semantic Scholar
Late-onset oro-facial dyskinesia in Spinocerebellar Ataxia type 2: a case report
F. Giardina, G. Lanza, F. Calì, R. Ferri
2020BMC Neurology9 citations Open access
Semantic Scholar
Investigating the role of a novel hemizygous FAAH2 variant in neurological and metabolic disorders.
M. Vinci, Donatella Greco, Simone Treccarichi, A. Musumeci +5 more
2025Gene8 citations Open access
Semantic Scholar
Bioinformatic Evaluation of KLF13 Genetic Variant: Implications for Neurodevelopmental and Psychiatric Symptoms
M. Vinci, Donatella Greco, Simone Treccarichi, V. Chiavetta +6 more
2024Genes8 citations Open access
Semantic Scholar
Allelic Variations in the Human Genes TMPRSS2 and CCR5, and the Resistance to Viral Infection by SARS-CoV-2
G. Vitello, Concetta Federico, Francesca Bruno, M. Vinci +6 more
2022International Journal of Molecular Sciences8 citations Open access
Semantic Scholar
Archaeogenetics and Landscape Dynamics in Sicily during the Holocene: A Review
V. Romano, G. Catalano, G. Bazan, F. Calì +1 more
2021Sustainability8 citations Open access
Semantic Scholar
SPANX-B and SPANX-C (Xq27 region) gene dosage analysis in Sicilian patients with melanoma
Michele Salemi, P. Bosco, F. Calì, A. Calogero +8 more
2008Melanoma research8 citations
Semantic Scholar
Role of COMT V158M Polymorphism in the Development of Dystonia after Administration of Antipsychotic Drugs
A. Nicotera, G. Di Rosa, L. Turriziani, M. Costanzo +7 more
2021Brain Science7 citations Open access
Semantic Scholar
GRIN2A: involvement in movement disorders and intellectual disability without seizures
A. Nicotera, F. Calì, M. Vinci, S. Musumeci
2019Neurological Sciences7 citations
Semantic Scholar
Potential Association of the CSMD1 Gene with Moderate Intellectual Disability, Anxiety Disorder, and Obsessive–Compulsive Personality Traits
A. Musumeci, M. Vinci, Simone Treccarichi, Donatella Greco +6 more
2025International Journal of Molecular Sciences6 citations Open access
Semantic Scholar
PLEKHG1: New Potential Candidate Gene for Periventricular White Matter Abnormalities
F. Calì, M. Vinci, Simone Treccarichi, Carla Papa +9 more
2024Genes6 citations Open access
Semantic Scholar
Next Generation Sequencing and Electromyography Reveal the Involvement of the P2RX6 Gene in Myopathy
M. Vinci, G. Vitello, D. Greco, Simone Treccarichi +7 more
2024Current Issues in Molecular Biology6 citations Open access
Semantic Scholar
Specific Learning Disorders: Variation Analysis of 15 Candidate Genes in 9 Multiplex Families
F. Calì, F. D. Di Blasi, E. Avola, M. Vinci +11 more
2023Medicina6 citations Open access
Semantic Scholar
KCNQ2-Related Neonatal Epilepsy Treated With Vitamin B6: A Report of Two Cases and Literature Review
Greta Amore, Ambra Butera, Giulia Spoto, G. Valentini +5 more
2022Frontiers in Neurology6 citations Open access
Semantic Scholar
PHF21A Related Disorder: Description of a New Case
Ambra Butera, A. Nicotera, G. Di Rosa, S. Musumeci +7 more
2022International Journal of Molecular Sciences6 citations Open access
Semantic Scholar
Novel deletion of the E3A ubiquitin protein ligase gene detected by multiplex ligation-dependent probe amplification in a patient with Angelman syndrome
F. Calì, A. Ragalmuto, V. Chiavetta, G. Calabrese +8 more
2010Experimental and Molecular Medicine6 citations Open access
Semantic Scholar
Investigating the Role of the Zinc Finger Protein ZC2HC1C on Autism Spectrum Disorder Susceptibility
Simone Treccarichi, M. Vinci, A. Musumeci, R. G. Rando +8 more
2025Medicina5 citations Open access
Semantic Scholar
Implementation of Sample Pooling Procedure Using a Rapid SARS-CoV-2 Diagnostic Real-Time PCR Test Performed Prior to Hospital Admission of People with Intellectual Disabilities
A. Musumeci, M. Vinci, F. L'Episcopo, A. Ragalmuto +5 more
2021International Journal of Environmental Research and Public Health5 citations Open access
Semantic Scholar
Novel compound heterozygous mutation in NPC1 gene cause Niemann–Pick disease type C with juvenile onset
M. Costanzo, A. Nicotera, M. Vinci, Aurelio Vitello +3 more
2020Journal Genetika5 citations
Semantic Scholar
TBC1D24 gene mRNA expression in a boy with early infantile epileptic encephalopathy-16
Michele Salemi, F. Calì, M. Giambirtone, M. Elia +1 more
2017Acta Neurologica Belgica5 citations
Semantic Scholar
Genetic Relationships of Brassica Vegetables and Wild Relatives in Southern Italy Determined by Five Ssr
F. Branca, L. Ragusa, A. Tribulato, C. Di Gaetano +1 more
20135 citations
Semantic Scholar
Multiplex ligation-dependent probe amplification detection of an unknown large deletion of the CREB-binding protein gene in a patient with Rubinstein-Taybi syndrome.
F. Calì, P. Failla, V. Chiavetta, A. Ragalmuto +5 more
2013Genetics and Molecular Research5 citations Open access
Semantic Scholar

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A. Musumeci×19
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