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Lucia Artuso

Observed names: Artuso, L., Artuso, Lucia, L Artuso, L. Artuso
ORCID: 0000-0002-3058-9739
Observed ORCID: 0000-0002-3058-9739
OpenAlex ID: A5032466756
Impact of mutational status on outcomes in myelofibrosis patients treated with ruxolitinib in the COMFORT-II study
2014 · Paola Guglielmelli, Flavia Biamonte, et al. · Blood · 131
Mitochondrial DNA metabolism in early development of zebrafish (Danio rerio)
2012 · Lucia Artuso, Alessandro Romano, et al. · Biochimica et Biophysica Acta (BBA) - Bioenergetics · 76
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Targeted cancer exome sequencing reveals recurrent mutations in myeloproliferative neoplasms
2013 · on behalf of AGIMM investigators, E Tenedini, et al. · Leukemia · 73
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iVar, an Interpretation-Oriented Tool to Manage the Update and Revision of Variant Annotation and Classification
2021 · Sara Castellano, Federica Cestari, et al. · Genes · 53
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Unravelling the Complexity of Inherited Retinal Dystrophies Molecular Testing: Added Value of Targeted Next-Generation Sequencing
2016 · Isabella Bernardis, Laura Chiesi, et al. · BioMed Research International · 51
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Amplicon-based next-generation sequencing: an effective approach for the molecular diagnosis of epidermolysis bullosa
2015 · E. Tenedini, L. Artuso, et al. · British Journal of Dermatology · 36
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A new locus on 3p23–p25 for an autosomal-dominant limb-girdle muscular dystrophy, LGMD1H
2010 · Luigi Bisceglia, Stefano Zoccolella, et al. · European Journal of Human Genetics · 35
Hereditary Pancreatic Cancer: A Retrospective Single-Center Study of 5143 Italian Families with History of BRCA-Related Malignancies
2019 · Angela Toss, Marta Venturelli, et al. · Cancers · 17
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Genomic alterations at the basis of treatment resistance in metastatic breast cancer: clinical applications
2018 · Angela Toss, Federico Piacentini, et al. · Oncotarget · 17
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Mitochondrial genome aberrations in skeletal muscle of patients with motor neuron disease
2012 · Lucia Artuso, Stefano Zoccolella, et al. · Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration · 16
Late-onset Leber hereditary optic neuropathy mimicking Susac’s syndrome
2010 · Stefano Zoccolella, Vittoria Petruzzella, et al. · Journal of Neurology · 15
Homozygous familial hypobetalipoproteinemia: A Turkish case carrying a missense mutation in apolipoprotein B
2015 · Berna Seker Yilmaz, Neslihan Onenli Mungan, et al. · Clinica Chimica Acta · 14
Deep sequencing unearths Nuclear mitochondrial Sequences under Leber's hereditary optic neuropathy-associated false heteroplasmic mitochondrial DNA variants
2012 · Vittoria Petruzzella, Rosalba Carrozzo, et al. · Human Molecular Genetics · 14
Characterization of New ATM Deletion Associated with Hereditary Breast Cancer
2021 · Sandra Parenti, Claudio Rabacchi, et al. · Genes · 10
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Mitochondrial genome large rearrangements in the skeletal muscle of a patient with PMA
2012 · S. Zoccolella, L. Artuso, et al. · European Journal of Neurology · 9
Molecular analysis in a family presenting with a mild form of late-onset autosomal dominant chronic progressive external ophthalmoplegia
2009 · Roberto Negro, Stefano Zoccolella, et al. · Neuromuscular Disorders · 8
Bilateral progressive visual loss in an epileptic, mentally retarded boy
2011 · Silvana Guerriero, Michele Vetrugno, et al. · Middle East African Journal of Ophthalmology · 6
Constitutional Mosaicism: A Critical Issue in the Definition of BRCA-Inherited Cancer Risk
2022 · Elena Tenedini, Simonetta Piana, et al. · JCO Precision Oncology · 5
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Automated capture-based NGS workflow: one thousand patients experience in a clinical routine framework
2021 · Elena Tenedini, Fabio Celestini, et al. · Diagnosis · 4
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Characterization of Copy Number Variants in Hereditary Cancer Patients Through NGS Shows a Distinctive PALB2 Contribution to the Diagnostic Yield
2026 · Lia Bonamici, Lucia Artuso, et al. · Human Mutation · 3
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Rare ceruloplasmin variants are associated with hyperferritinemia and increased hepatic iron in NAFLD patients: results from a NGS study
2018 · E. Corradini, I. Bernardis, et al. · Journal of Hepatology · 3
Impact Of Prognostically Detrimental Mutations (ASXL1, EZH2, SRSF2, IDH1/2) On Outcomes In Patients With Myelofibrosis Treated With Ruxolitinib In COMFORT-II
2013 · Paola Guglielmelli, Flavia Biamonte, et al. · Blood · 3
Amplicon-based Ngs: an Effective Approach for the Molecular Diagnosis of Epidermolysis Bullosa
2015 · Elena Tenedini, Lucia Artuso, et al. · IRIS UNIMORE (University of Modena and Reggio Emilia) · 2
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A Next Generation Sequencing amplicon-based strategy to explore Inherited Retinal Degeneration complexity
2015 · Valentina Artusi, Laura Chiesi, et al. · 2
Diagnostic Yield and Clinical Impact of a Small Genetic Panel for Kidney Disease: A Multicenter, Retrospective European Study
2025 · Silvia Giovanella, Antonio Miguel Poyatos‐Andújar, et al. · Clinical Genetics
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Works count: 39
Citation count: 603
H-index: 13
I10-index: 14
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