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Silvia Genovese

Observed names: Genovese, Silvia, S. Genovese
ORCID: 0000-0002-5514-5018
Observed ORCID: 0000-0002-5514-5018
OpenAlex ID: A5049534764
KBG syndrome: Common and uncommon clinical features based on 31 new patients
2020 · Maria Gnazzo, Francesca R Lepri, et al. · American Journal of Medical Genetics Part A · 45
Biological, Functional and Genetic Characterization of Bone Marrow-Derived Mesenchymal Stromal Cells from Pediatric Patients Affected by Acute Lymphoblastic Leukemia
2013 · Antonella Conforti, Simone Biagini, et al. · PLoS ONE · 37
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Role of molecular testing in the multidisciplinary diagnostic approach of ichthyosis
2016 · Andrea Diociaiuti, May El Hachem, et al. · Orphanet Journal of Rare Diseases · 30
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Advantages of a next generation sequencing targeted approach for the molecular diagnosis of retinoblastoma
2015 · Simona Grotta, Gemma D’Elia, et al. · BMC Cancer · 27
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Extensive Molecular Analysis Suggested the Strong Genetic Heterogeneity of Idiopathic Chronic Pancreatitis
2016 · Valentina Maria Sofia, Letizia Da Sacco, et al. · Molecular Medicine · 26
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TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study
2021 · Bradley Bowles, Alejandro Ferrer, et al. · American Journal of Medical Genetics Part A · 20
Congenital heart defects in molecularly confirmed KBG syndrome patients
2021 · Maria Cristina Digilio, Giulio Calcagni, et al. · American Journal of Medical Genetics Part A · 16
Congenital heart defects in the recurrent 2q13 deletion syndrome
2021 · M.C. Digilio, M.L. Dentici, et al. · European Journal of Medical Genetics · 16
Atypical 7q11.23 deletions excluding ELN gene result in Williams–Beuren syndrome craniofacial features and neurocognitive profile
2020 · Viola Alesi, Sara Loddo, et al. · American Journal of Medical Genetics Part A · 16
Confirmation of BRD4 haploinsufficiency role in Cornelia de Lange–like phenotype and delineation of a 19p13.12p13.11 gene contiguous syndrome
2018 · Viola Alesi, Maria Lisa Dentici, et al. · Annals of Human Genetics · 16
PATZ1-Rearranged Tumors of the Central Nervous System: Characterization of a Pediatric Series of Seven Cases
2023 · Sabrina Rossi, Sabina Barresi, et al. · Modern Pathology · 12
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Deep Intronic LINE-1 Insertions in NF1: Expanding the Spectrum of Neurofibromatosis Type 1-Associated Rearrangements
2023 · Viola Alesi, Silvia Genovese, et al. · Biomolecules · 11
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PPP1R21 ‐ related syndromic intellectual disability: Report of an adult patient and review
2020 · Sara Loddo, Viola Alesi, et al. · American Journal of Medical Genetics Part A · 11
A heterozygous, intragenic deletion of CNOT2 recapitulates the phenotype of 12q15 deletion syndrome
2019 · Viola Alesi, Sara Loddo, et al. · American Journal of Medical Genetics Part A · 11
An additional patient with a homozygous mutation in DCPS contributes to the delination of Al‐Raqad syndrome
2018 · Viola Alesi, Rossella Capolino, et al. · American Journal of Medical Genetics Part A · 11
Intragenic inversions in NF1 gene as pathogenic mechanism in neurofibromatosis type 1
2022 · Viola Alesi, Francesca Romana Lepri, et al. · European Journal of Human Genetics · 10
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Cardiovascular Involvement in Pediatric FLNC Variants: A Case Series of Fourteen Patients
2022 · Anwar Baban, Viola Alesi, et al. · Journal of Cardiovascular Development and Disease · 9
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CHARGE syndrome due to deletion of region upstream of CHD7 gene START codon
2015 · Elisa Pisaneschi, Pietro Sirleto, et al. · BMC Medical Genetics · 9
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Uniparental isodisomy of chromosome 1 results in glycogen storage disease type III with profound growth retardation
2019 · Emanuela Ponzi, Viola Alesi, et al. · Molecular Genetics & Genomic Medicine · 8
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Relationship between CFTR and CTRC Variants and the Clinical Phenotype in Late-Onset Cystic Fibrosis Disease with Chronic Pancreatitis
2015 · Anna C. Tomaiuolo, Valentina M. Sofia, et al. · Journal of Molecular Diagnostics · 8
Reciprocal Xp11.4p11.3 microdeletion/microduplication spanning USP9X, DDX3X, and CASK genes in two patients with syndromic intellectual disability
2022 · Giorgia Catino, Silvia Genovese, et al. · American Journal of Medical Genetics Part A · 7
Sometimes it is better to wait: First Italian case of a newborn with transient abnormal myelopoiesis and a favorable prognosis
2016 · Guglielmo Salvatori, Silvia Foligno, et al. · Oncology Letters · 7
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A Complex Genomic Rearrangement Resulting in Loss of Function of SCN1A and SCN2A in a Patient with Severe Developmental and Epileptic Encephalopathy
2022 · Valeria Orlando, Silvia Di Tommaso, et al. · International Journal of Molecular Sciences · 6
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“Atypical” Krabbe disease in two siblings harboring biallelic GALC mutations including a deep intronic variant
2022 · Francesco Nicita, Fabrizia Stregapede, et al. · European Journal of Human Genetics · 6
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A non‐hemispheric transtentorial ZFTA fusion‐positive ependymoma in a 6‐month‐old boy
2023 · Antonello Cardoni, Sabina Barresi, et al. · Neuropathology and Applied Neurobiology · 5
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Works count: 45
Citation count: 414
H-index: 11
I10-index: 16
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