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Giorgia Mancano · SciRah

Researcher profile · Semantic Scholar

Giorgia Mancano

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Giorgia Mancano — researcher profile on SciRah

h-index: 11
Works: 24
Citations: 367

Most-cited papers

An autosomal recessive DNASE1L3-related autoimmune disease with unusual clinical presentation mimicking systemic lupus erythematosus
A. Carbonella, Giorgia Mancano, E. Gremese, F. Alkuraya +3 more
2017Lupus50 citations
Semantic Scholar
Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome
C. Cafiero, G. Marangi, Daniela Orteschi, M. Ali +12 more
2015European Journal of Human Genetics50 citations Open access
Semantic Scholar
Role of CTCF Protein in Regulating FMR1 Locus Transcription
Stella Lanni, Martina Goracci, Loredana Borrelli, Giorgia Mancano +6 more
2013PLoS Genetics44 citations Open access
Semantic Scholar
FOXI3 pathogenic variants cause one form of craniofacial microsomia
Ke Mao, C. Borel, Muhammad Ansar, Angad Jolly +50 more
2023Nature Communications32 citations Open access
Semantic Scholar
Genetic counseling during COVID‐19 pandemic: Tuscany experience
Angelica Pagliazzi, Giorgia Mancano, Giulia Forzano, Fabiana di Giovanni +4 more
2020Molecular Genetics & Genomic Medicine30 citations Open access
Semantic Scholar
VarGenius executes cohort-level DNA-seq variant calling and annotation and allows to manage the resulting data through a PostgreSQL database
F. Musacchia, A. Ciolfi, M. Mutarelli, A. Bruselles +22 more
2018BMC Bioinformatics30 citations Open access
Semantic Scholar
Genome-wide methylation analysis demonstrates that 5-aza-2-deoxycytidine treatment does not cause random DNA demethylation in fragile X syndrome cells
E. Tabolacci, Giorgia Mancano, Stella Lanni, Federica Palumbo +4 more
2016Epigenetics & Chromatin30 citations Open access
Semantic Scholar
Multiorgan manifestations of COL4A1 and COL4A2 variants and proposal for a clinical management protocol
S. Gasparini, S. Balestrini, Luigi Francesco Saccaro, G. Bacci +18 more
2024American Journal of Medical Genetics. Part C, Seminars in Medical Genetics26 citations Open access
Semantic Scholar
Immunological Features of Neuroblastoma Amplified Sequence Deficiency: Report of the First Case Identified Through Newborn Screening for Primary Immunodeficiency and Review of the Literature
S. Ricci, L. Lodi, D. Serranti, M. Moroni +7 more
2019Frontiers in Immunology21 citations Open access
Semantic Scholar
72nd Congress of the Italian Society of Pediatrics
Marco Braghero, A. Staiano, E. Biasin, P. Matarazzo +92 more
2017Italian Journal of Pediatrics16 citations Open access
Semantic Scholar
Interstitial deletion of 3p22.3p22.2 encompassing ARPP21 and CLASP2 is a potential pathogenic factor for a syndromic form of intellectual disability: A co‐morbidity model with additional copy number variations in a large family
G. Marangi, Daniela Orteschi, Valentina Milano, Giorgia Mancano +1 more
2013American Journal of Medical Genetics. Part A14 citations Open access
Semantic Scholar
Defining the role of the CGGBP1 protein in FMR1 gene expression
Martina Goracci, Stella Lanni, Giorgia Mancano, Federica Palumbo +3 more
2015European Journal of Human Genetics8 citations Open access
Semantic Scholar
CDK13‐Related Disorder: Novel Insights From A Series of 27 Cases and Recommendations for Clinical Management
Gianluca Contrò, Maria Chiara Baroni, S. Caraffi, Manuela Napoli +54 more
2025Clinical Genetics3 citations Open access
Semantic Scholar
Diaphragmatic hernia in a term newborn with congenital myotonic dystrophy: case report.
F. Pezzoli, S. Parigi, M. Moroni, M. Sacchini +15 more
2023Acta bio-medica : Atenei Parmensis3 citations
Semantic Scholar
Cardio-Facio-Cutaneous Syndrome: Phenotypic Variability and Differential Diagnosis in 3 Cases with de novo BRAF Mutations
E. Demir, Giorgia Mancano, M. Pomponi, A. Özçelik +2 more
2010Neuropediatrics3 citations
Semantic Scholar
Domain-specific phenotypic profiles in RAF1-related Noonan syndrome
Andrea Gazzin, M. Calvo, Federico Rondot, Giuseppe Reynolds +30 more
2026European Journal of Human Genetics2 citations Open access
Semantic Scholar
Estudio clínico y molecular del síndrome de Noonan.
F. Cammarata-Scalisi, G. Neri, Maria Grazia Pomponi, Giorgia Mancano +5 more
20122 citations
Semantic Scholar
Loss-of-function variants in exon 4 of TAB2 cause a recognizable multisystem disorder with cardiovascular, facial, cutaneous, and musculoskeletal involvement.
L. Micale, S. Morlino, A. Carbone, A. Carissimo +19 more
2021Genetics in Medicine1 citations Open access
Semantic Scholar
Genome-wide methylation analysis demonstrates that 5-aza-2-deoxycytidine treatment does not cause random DNA demethylation in fragile X syndrome cells
E. Tabolacci, Giorgia Mancano, Stella Lanni, Federica Palumbo +4 more
2016Epigenetics & Chromatin1 citations Open access
Semantic Scholar
[Clinical and molecular study of the Noonan syndrome].
F. Cammarata-Scalisi, G. Neri, M. Pomponi, Giorgia Mancano +5 more
2012Investigación Clínica1 citations
Semantic Scholar
CDH3 Retinopathy: Long-Term Multimodal Follow-Up with Pediatric Multidisciplinary Insights
E. Marziali, Chiavetta Elia, S. Bargiacchi, Giorgia Mancano +12 more
2026Journal of Clinical Medicine0 citations Open access
Semantic Scholar
Genotype-phenotype correlations and clinical variability in noonan syndrome
Medico Giulia Del, E. Andreucci, S. Bargiacchi, Giulia Gori +8 more
2025Endocrine Abstracts0 citations
Semantic Scholar
SAT-196 Noonan Syndrome: Genotype-Phenotype Correlations and Clinical Variability
Giulia Del Medico, E. Andreucci, S. Bargiacchi, Giulia Gori +8 more
2025Journal of the Endocrine Society0 citations Open access
Semantic Scholar
Marked hepatic fibrosis with progression towards cirrhosis in generalized arterial calcification of infancy: an unreported association observed in a case carryng a novel ENPP1 variant
A. Buccoliero, Giorgia Mancano, M. L. Cioni, Caterina Panzuto +11 more
2025Pathologica0 citations Open access
Semantic Scholar

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G. Neri×6
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Martina Goracci×4
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M. Helmer-Citterich×3

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Giulia Forzano×3

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Federica Palumbo×3

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R. Artuso — researcher profile on SciRah