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L. Artuso · SciRah

Researcher profile · Semantic Scholar

L. Artuso

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L. Artuso — researcher profile on SciRah

h-index: 12
Works: 34
Citations: 805

Most-cited papers

Unravelling the Complexity of Inherited Retinal Dystrophies Molecular Testing: Added Value of Targeted Next-Generation Sequencing
I. Bernardis, L. Chiesi, E. Tenedini, L. Artuso +14 more
2016BioMed Research International342 citations Open access
Semantic Scholar
Impact of mutational status on outcomes in myelofibrosis patients treated with ruxolitinib in the COMFORT-II study.
P. Guglielmelli, F. Biamonte, G. Rotunno, V. Artusi +15 more
2014Blood138 citations Open access
Semantic Scholar
Mitochondrial DNA metabolism in early development of zebrafish (Danio rerio).
L. Artuso, Alessandro Romano, T. Verri, A. Domenichini +3 more
2012Biochimica et Biophysica Acta74 citations Open access
Semantic Scholar
iVar, an Interpretation-Oriented Tool to Manage the Update and Revision of Variant Annotation and Classification
S. Castellano, Federica Cestari, Giovanni Faglioni, E. Tenedini +6 more
2020Genes38 citations Open access
Semantic Scholar
Amplicon‐based next‐generation sequencing: an effective approach for the molecular diagnosis of epidermolysis bullosa
E. Tenedini, L. Artuso, I. Bernardis, V. Artusi +9 more
2015British Journal of Dermatology37 citations Open access
Semantic Scholar
A new locus on 3p23–p25 for an autosomal-dominant limb-girdle muscular dystrophy, LGMD1H
L. Bisceglia, S. Zoccolella, A. Torraco, M. R. Piemontese +10 more
2010European Journal of Human Genetics27 citations Open access
Semantic Scholar
Hereditary Pancreatic Cancer: A Retrospective Single-Center Study of 5143 Italian Families with History of BRCA-Related Malignancies
A. Toss, M. Venturelli, E. Molinaro, S. Pipitone +11 more
2019Cancers20 citations Open access
Semantic Scholar
Mitochondrial genome aberrations in skeletal muscle of patients with motor neuron disease
L. Artuso, S. Zoccolella, P. Favia, A. Amati +6 more
2013Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration18 citations
Semantic Scholar
Genomic alterations at the basis of treatment resistance in metastatic breast cancer: clinical applications
A. Toss, F. Piacentini, L. Cortesi, L. Artuso +11 more
2018OncoTarget15 citations Open access
Semantic Scholar
Deep sequencing unearths nuclear mitochondrial sequences under Leber's hereditary optic neuropathy-associated false heteroplasmic mitochondrial DNA variants.
V. Petruzzella, R. Carrozzo, C. Calabrese, Rosa Dell’Aglio +9 more
2012Human Molecular Genetics15 citations
Semantic Scholar
Late-onset Leber hereditary optic neuropathy mimicking Susac’s syndrome
S. Zoccolella, V. Petruzzella, F. Prascina, L. Artuso +6 more
2010Journal of Neurology14 citations
Semantic Scholar
Homozygous familial hypobetalipoproteinemia: A Turkish case carrying a missense mutation in apolipoprotein B.
B. Yilmaz, N. Mungan, E. Di Leo, L. Magnolo +5 more
2016Clinica chimica acta; international journal of clinical chemistry13 citations Open access
Semantic Scholar
Characterization of New ATM Deletion Associated with Hereditary Breast Cancer
S. Parenti, C. Rabacchi, M. Marino, E. Tenedini +11 more
2020Genes9 citations Open access
Semantic Scholar
Mitochondrial genome large rearrangements in the skeletal muscle of a patient with PMA
S. Zoccolella, L. Artuso, R. Capozzo, A. Amati +4 more
2012European Journal of Neurology9 citations
Semantic Scholar
Molecular analysis in a family presenting with a mild form of late-onset autosomal dominant chronic progressive external ophthalmoplegia.
R. Negro, S. Zoccolella, Rosa Dell’Aglio, A. Amati +6 more
2009Neuromuscular Disorders8 citations
Semantic Scholar
Bilateral Progressive Visual Loss in an Epileptic, Mentally Retarded Boy
S. Guerriero, M. Vetrugno, Lorenza Ciracì, L. Artuso +2 more
2011Middle East African Journal of Ophthalmology7 citations Open access
Semantic Scholar
Characterization of Copy Number Variants in Hereditary Cancer Patients Through NGS Shows a Distinctive PALB2 Contribution to the Diagnostic Yield
L. Bonamici, L. Artuso, Marco Marino, A. Toss +11 more
2026Human Mutation4 citations Open access
Semantic Scholar
Automated capture-based NGS workflow: one thousand patients experience in a clinical routine framework
E. Tenedini, Fabio Celestini, Pierluigi Iapicca, Marco Marino +12 more
2021Diagnosis4 citations Open access
Semantic Scholar
Impact Of Prognostically Detrimental Mutations (ASXL1, EZH2, SRSF2, IDH1/2) On Outcomes In Patients With Myelofibrosis Treated With Ruxolitinib In COMFORT-II
P. Guglielmelli, F. Biamonte, L. Pieri, G. Rotunno +12 more
20134 citations Open access
Semantic Scholar
A Next Generation Sequencing amplicon-based strategy to explore Inherited Retinal Degeneration complexity
V. Artusi, L. Chiesi, I. Bernardis, E. Tenedini +5 more
20153 citations
Semantic Scholar
Constitutional Mosaicism: A Critical Issue in the Definition of BRCA-Inherited Cancer Risk
E. Tenedini, S. Piana, A. Toss, Marco Marino +11 more
2022JCO Precision Oncology2 citations Open access
Semantic Scholar
Rare ceruloplasmin variants are associated with hyperferritinemia and increased hepatic iron in NAFLD patients: results from a NGS study
E. Corradini, I. Bernardis, P. Dongiovanni, E. Buzzetti +10 more
20182 citations
Semantic Scholar
AMPLICON-BASED NGS: AN EFFECTIVE APPROACH FOR THE MOLECULAR DIAGNOSIS OF EPIDERMOLYSIS BULLOSA
E. Tenedini, L. Artuso, I. Bernardis, V. Artusi +8 more
20152 citations
Semantic Scholar
Clinical application of NGS in the diagnosis of iron overload disorders or hyperferritinemia of genetic origin
A. Ricci, E. Bergamini, S. Scarlini, E. Buzzetti +8 more
2023Digestive and Liver Disease1 citations Open access
Semantic Scholar
Diagnostic Yield and Clinical Impact of a Small Genetic Panel for Kidney Disease: A Multicenter, Retrospective European Study
S. Giovanella, A. Poyatos-Andújar, M. García, A. Ávila-Fernández +19 more
2025Clinical Genetics0 citations Open access
Semantic Scholar
ERBB2 mutations in hormone receptor positive primary breast cancers samples and in their matched endocrine-resistant recurrences.
M. Venturelli, A. Toss, F. Piacentini, L. Artuso +8 more
20180 citations
Semantic Scholar
Genetic heterogeneity of primary hpobetalipoproteinemia reveald by the next generation sequencing (NGS)
E. Di Leo, M. L. Simone, L. Artuso, I. Bernardis +2 more
20170 citations
Semantic Scholar
STRATEGIES TO PREDICT TREATMENT RESPONSE AND SELECT THERAPIES IN METASTATIC BREAST CANCER PATIENTS USING A NEXT GENERATION SEQUENCING (NGS) MULTI-GENE PANEL
A. Toss, L. Cortesi, L. Artuso, E. Tenedini +6 more
20160 citations
Semantic Scholar
Implementation of an NGS-based workflow for BRCA1 and BRCA2 mutation screening
L. Artuso, Veronica Medici, I. Bernardis, E. Tenedini +6 more
20150 citations
Semantic Scholar
Amplicon-based Next Generation Sequencing: an effective approach to molecular diagnosis of Epidermolysis Bullosa
E. Tenedini, L. Artuso, I. Bernardis, V. Artusi +9 more
2015IRIS UNIMORE (University of Modena and Reggio Emilia)0 citations Open access
Semantic Scholar
treated with ruxolitinib in the COMFORT-II study Impact of mutational status on outcomes in myelofibrosis patients
E. Tagliafico, A. Vannucchi, M. Squires, M. Cazzola +10 more
20140 citations
Semantic Scholar
Pre-mir146a e FSHR sono marker di mosaicismo tiroideo nel carcinoma follicolare della tiroide
Eleonora Vighi, Elisa Pignatti, E. Magnani, Elda Kara +9 more
20140 citations
Semantic Scholar
Targeted Cancer Exome Sequencing Discovers Novel Recurrent Mutations In MPN
I. Bernardis, V. Artusi, L. Artuso, E. Roncaglia +14 more
20130 citations
Semantic Scholar
Mitochondrial ND5 geme nucleotide variants in a patient with ptical atrophy and renal involvement
Rosa Dell’Aglio, R. Negro, L. Artuso, S. Papa +2 more
20080 citations
Semantic Scholar

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E. Tagliafico×19
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V. Petruzzella×9

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