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Antonio Petracca

Observed name: Petracca, Antonio
ORCID: 0009-0004-3065-2285
Observed ORCID: 0009-0004-3065-2285
OpenAlex ID: A5000787373
Safety and efficacy of propranolol for treatment of familial cerebral cavernous malformations (Treat_CCM): a randomised, open-label, blinded-endpoint, phase 2 pilot trial
2022 · Silvia Lanfranconi, Elisa Scola, et al. · The Lancet Neurology · 71
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Propranolol for familial cerebral cavernous malformation (Treat_CCM): study protocol for a randomized controlled pilot trial
2020 · the Treat-CCM Investigators, Silvia Lanfranconi, et al. · Trials · 47
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A new case of de novo 6q24.2-q25.2 deletion on paternal chromosome 6 with growth hormone deficiency: a twelve-year follow-up and literature review
2015 · Stefano Stagi, Elisabetta Lapi, et al. · BMC Medical Genetics · 39
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The Interplay between PARP Inhibitors and Immunotherapy in Ovarian Cancer: The Rationale behind a New Combination Therapy
2022 · Brigida Anna Maiorano, Domenica Lorusso, et al. · International Journal of Molecular Sciences · 36
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Customised next-generation sequencing multigene panel to screen a large cohort of individuals with chromatin-related disorder
2020 · Gabriella Maria Squeo, Bartolomeo Augello, et al. · Journal of Medical Genetics · 20
A novel dominant-negative FGFR1 variant causes Hartsfield syndrome by deregulating RAS/ERK1/2 pathway
2019 · Pietro Palumbo, Antonio Petracca, et al. · European Journal of Human Genetics · 20
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Mutational spectrum and clinical signatures in 114 families with hereditary multiple osteochondromas: insights into molecular properties of selected exostosin variants
2019 · Carmela Fusco, Grazia Nardella, et al. · Human Molecular Genetics · 19
A Private 16q24.2q24.3 Microduplication in a Boy with Intellectual Disability, Speech Delay and Mild Dysmorphic Features
2020 · Orazio Palumbo, Pietro Palumbo, et al. · Genes · 17
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Characterization of the rs2802292 SNP identifies FOXO3Aas a modifier locus predicting cancer risk in patients with PJS and PHTS hamartomatous polyposis syndromes
2014 · Giovanna Forte, Valentina Grossi, et al. · BMC Cancer · 14
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Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hypermobility
2023 · Maria Pia Leone, Silvia Morlino, et al. · Human Genetics · 10
Transcriptome Analysis Reveals Altered Expression of Genes Involved in Hypoxia, Inflammation and Immune Regulation in Pdcd10-Depleted Mouse Endothelial Cells
2022 · Carmela Fusco, Grazia Nardella, et al. · Genes · 10
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Towards a Long-Read Sequencing Approach for the Molecular Diagnosis of RPGRORF15 Genetic Variants
2023 · Gabriele Bonetti, William Cozza, et al. · International Journal of Molecular Sciences · 9
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Heterozygosity for loss-of-function variants in LZTR1 is associated with isolated multiple café-au-lait macules
2024 · Gioia Mastromoro, Claudia Santoro, et al. · Genetics in Medicine · 8
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Phenotypic Variability of a Pathogenic PKP2 Mutation in an Italian Family Affected by Arrhythmogenic Cardiomyopathy and Juvenile Sudden Death: Considerations From Molecular Autopsy to Sport Restriction
2021 · Maria Pia Leone, Pietro Palumbo, et al. · Frontiers in Cardiovascular Medicine · 7
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Lifetime Risk of First Symptomatic ICH or Seizure in Familial Cerebral Cavernous Malformations
2025 · Philipp Dammann, Alejandro N. Santos, et al. · Neurology · 6
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Gonadal Mosaicism for an ASH1L Intragenic Deletion Makes a Bridge Between MRD52 and 1q22 Microdeletion
2024 · Ester Di Muro, Antonio Petracca, et al. · American Journal of Medical Genetics Part A · 3
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Biallelic LZTR1 variants in a 49‐year‐old woman with hypertrophic cardiomyopathy: A clue for considering LZTR1 in adults
2023 · Giuseppe Di Stolfo, Antonio Petracca, et al. · American Journal of Medical Genetics Part A · 3
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Variant sub-tiering, disease-gene associations and strictness of clinical criteria improves the interpretation of variants of uncertain significance in hereditary cardiomyopathies and rhythm disorders
2025 · Marco Castori, Sandra Mastroianno, et al. · Journal of Human Genetics · 2
Compound Heterozygosity for OTOA Truncating Variant and Genomic Rearrangement Cause Autosomal Recessive Sensorineural Hearing Loss in an Italian Family
2021 · Rocco Pio Ortore, Maria Pia Leone, et al. · Audiology Research · 1
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Improving clinical interpretation of five KRIT1 and PDCD10 intronic variants
2021 · Carmela Fusco, Grazia Nardella, et al. · Clinical Genetics · 1
Comprehensive Molecular Screening by Next Generation Sequencing of Gastrointestinal Stromal Tumors ( GISTs ): In Silico Analysis and Classification of Rare KIT Exon 11 Mutations
2025 · Maria Grazia Rodriquenz, Barbara Pasculli, et al. · Cancer Medicine
Lifetime Risk for a First Symptomatic ICH or Seizure in Patients with Familial Cerebral Cavernous Malformations (LIFE): A Multicentre Individual Patient Data Analysis
2024 · Philipp Dammann, Alejandro Santos, et al. · SSRN Electronic Journal
Author response for "Improving clinical interpretation of five KRIT1 and PDCD10 intronic variants"
2021 · Carmela Fusco, Grazia Nardella, et al.
Works count: 24
Citation count: 343
H-index: 10
I10-index: 11
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