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Girolamo Aurelio Vitello

Observed names: Aurelio Vitello, G A Vitello, G. Vitello, GIROLAMO AURELIO VITELLO, Girolamo A Vitello, Girolamo A. Vitello, Girolamo Vitello
ORCID: 0000-0002-6285-9692
Observed ORCID: 0000-0002-6285-9692
OpenAlex ID: A5000632931
Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing
2013 · Janneke H M Schuurs-Hoeijmakers, Anneke T Vulto-van Silfhout, et al. · Journal of Medical Genetics · 127
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Complex Segmental Duplications Mediate a Recurrent dup(X)(p11.22-p11.23) Associated with Mental Retardation, Speech Delay, and EEG Anomalies in Males and Females
2009 · Roberto Giorda, M. Clara Bonaglia, et al. · The American Journal of Human Genetics · 78
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Complex Segmental Duplications Mediate a Recurrent dup(X)(p11.22-p11.23) Associated with Mental Retardation, Speech Delay, and EEG Anomalies in Males and Females
2009 · Roberto Giorda, M. Clara Bonaglia, et al. · The American Journal of Human Genetics · 41
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Carrier screening for spinal muscular atrophy in Italian population
2014 · FRANCESCO CALÌ, GIUSEPPA RUGGERI, et al. · Journal of Genetics · 28
6p22.3 deletion: report of a patient with autism, severe intellectual disability and electroencephalographic anomalies
2013 · Daniela Di Benedetto, Giuseppa Di Vita, et al. · Molecular Cytogenetics · 27
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The in cis T251I and P587L POLG1 base changes: Description of a new family and literature review
2015 · Carmela Scuderi, Eugenia Borgione, et al. · Neuromuscular Disorders · 24
Posterior fossa abnormalities in hereditary spastic paraparesis with spastin mutations
2008 · C Scuderi, M Fichera, et al. · Journal of Neurology Neurosurgery & Psychiatry · 16
Identification of a Novel Missense Mutation of POLR3A Gene in a Cohort of Sicilian Patients with Leukodystrophy
2022 · Antonino Musumeci, Francesco Calì, et al. · Biomedicines · 15
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Definition of 5q11.2 microdeletion syndrome reveals overlap with CHARGE syndrome and 22q11 deletion syndrome phenotypes
2014 · Charlotte Snijders Blok, Nicole Corsten‐Janssen, et al. · American Journal of Medical Genetics Part A · 10
Definition of the neurological phenotype associated with dup (X)(p11.22‐p11.23)
2011 · Marcella Broli, Francesca Bisulli, et al. · Epileptic Disorders · 10
PPP2R5E: New gene potentially involved in specific learning disorders and myopathy
2024 · Antonino Musumeci, Mirella Vinci, et al. · Gene · 9
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Next Generation Sequencing and Electromyography Reveal the Involvement of the P2RX6 Gene in Myopathy
2024 · Mirella Vinci, Girolamo Vitello, et al. · Current Issues in Molecular Biology · 9
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Allelic Variations in the Human Genes TMPRSS2 and CCR5, and the Resistance to Viral Infection by SARS-CoV-2
2022 · Girolamo Aurelio Vitello, Concetta Federico, et al. · International Journal of Molecular Sciences · 8
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Role of COMT V158M Polymorphism in the Development of Dystonia after Administration of Antipsychotic Drugs
2021 · Antonio Gennaro Nicotera, Gabriella Di Rosa, et al. · Brain Sciences · 8
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Impact of daytime routine modifications on people with severe intellectual disability amid COVID‐19 pandemic
2021 · Luigi Vetri, Maurizio Elia, et al. · Perspectives In Psychiatric Care · 8
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PLEKHG1: New Potential Candidate Gene for Periventricular White Matter Abnormalities
2024 · Francesco Calì, Mirella Vinci, et al. · Genes · 7
PHF21A Related Disorder: Description of a New Case
2022 · Ambra Butera, Antonio Gennaro Nicotera, et al. · International Journal of Molecular Sciences · 7
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Novel compound heterozygous mutation in NPC1 gene cause Niemann–Pick disease type C with juvenile onset
2020 · Maria Cristina Costanzo, Antonio Gennaro Nicotera, et al. · Journal of Genetics · 7
Novel c.C2254T (p.Q752*) mutation in ZFYVE26 (SPG15) gene in a patient with hereditary spastic paraparesis
2018 · Mirella Vinci, Marco Fichera, et al. · Journal of Genetics · 6
New Insights Into TRMT10A Syndrome: Case Report and Literature Review
2024 · Graziana Ceraolo, Giulia Spoto, et al. · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · 3
Coexistence of mitochondrial and nuclear DNA mutations in a woman with mitochondrial encephalomyopathy and double cortex
2010 · Carmela Scuderi, Eugenia Borgione, et al. · Mitochondrion · 3
Mitochondrial DNA involvement in patients with autism spectrum disorders and intellectual disability
2022 · Carmela Scuderi, Sandro Santa Paola, et al. · Research in Autism · 2
Focus on Clinical and Genetic Aspects of PKAN Through the Description of New Patients
2025 · Marika Giuliano, Eugenia Borgione, et al. · Genes · 1
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Identification of novel mutations in L1CAM gene by a DHPLC-based assay
2016 · Mirella Vinci, Michele Falco, et al. · Genes & Genomics · 1
Interdisciplinary Multidimensional Assessment of Transthyretin Amyloidosis before and after Tafamidis
2023 · Manuela Pennisi, Giuseppe Lanza, et al. · Life
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Works count: 28
Citation count: 455
H-index: 10
I10-index: 10
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