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Sonia Amabile · SciRah

Researcher profile · Semantic Scholar

Sonia Amabile

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Sonia Amabile — researcher profile on SciRah

h-index: 8
Works: 17
Citations: 586

Most-cited papers

Redox Imbalance and Morphological Changes in Skin Fibroblasts in Typical Rett Syndrome
C. Signorini, S. Leoncini, C. De Felice, A. Pecorelli +14 more
2014Oxidative Medicine and Cellular Longevity203 citations Open access
Semantic Scholar
GluD1 is a common altered player in neuronal differentiation from both MECP2-mutated and CDKL5-mutated iPS
Gabriella Livide, Tommaso Patriarchi, M. Amenduni, Sonia Amabile +11 more
2014European Journal of Human Genetics71 citations Open access
Semantic Scholar
Interstitial 22q13 deletions not involving SHANK3 gene: A new contiguous gene syndrome
Vittoria Disciglio, C. L. Rizzo, M. Mencarelli, M. Mucciolo +23 more
2014American Journal of Medical Genetics. Part A65 citations
Semantic Scholar
Imbalance of Excitatory/Inhibitory Synaptic Protein Expression in iPSC-derived Neurons from FOXG1+/− Patients and in Foxg1+/− Mice
Tommaso Patriarchi, Sonia Amabile, E. Frullanti, E. Landucci +8 more
2015European Journal of Human Genetics61 citations Open access
Semantic Scholar
RAI1 gene mutations: mechanisms of Smith–Magenis syndrome
Mariateresa Falco, Sonia Amabile, F. Acquaviva
2017The Application of Clinical Genetics55 citations Open access
Semantic Scholar
iPSC-derived neurons profiling reveals GABAergic circuit disruption and acetylated α-tubulin defect which improves after iHDAC6 treatment in Rett syndrome
E. Landucci, M. Brindisi, L. Bianciardi, Lorenza M Catania +21 more
2018Experimental Cell Research48 citations Open access
Semantic Scholar
DYNC1H1‐related disorders: A description of four new unrelated patients and a comprehensive review of previously reported variants
Sonia Amabile, L. Jeffries, J. McGrath, Wei-Zhen Ji +3 more
2020American Journal of Medical Genetics. Part A39 citations
Semantic Scholar
Altered expression of neuropeptides in FoxG1-null heterozygous mutant mice
E. Frullanti, Sonia Amabile, M. G. Lolli, Anna Bartolini +8 more
2015European Journal of Human Genetics14 citations Open access
Semantic Scholar
AChR-seropositive myasthenia gravis in muscular dystrophy: diagnostic pitfalls and clinical management challenges
Anna Rosa Avallone, V. Di Stefano, L. Bevilacqua, P. Alonge +7 more
2024Neurological Sciences7 citations
Semantic Scholar
A Genome Wide Copy Number Variations Analysis in Autism Spectrum Disorder (Asd) and Intellectual Disability (Id) in Italian Families
Mucciolo Mafalda, C. Di Marco, R. Canitano, S. Buoni +11 more
20167 citations Open access
Semantic Scholar
Whole-Exome Sequencing Revealed New Candidate Genes for Human Dilated Cardiomyopathy
Ylenia D’Agostino, D. Palumbo, M. Rusciano, Oriana Strianese +14 more
2022Diagnostics5 citations Open access
Semantic Scholar
RAI 1 gene mutations : mechanisms of Smith – Magenis syndrome
Mariateresa Falco, Sonia Amabile, F. Acquaviva
20174 citations
Semantic Scholar
Perinatal‐lethal Gaucher disease presenting with blueberry muffin lesions
F. Rosanio, I. D’Acunzo, Filomena Mozzillo, R. di Pinto +5 more
2021Pediatric dermatology3 citations
Semantic Scholar
Detection of SRY‐positive46,XX male syndrome by the analysis of cell‐free fetal DNA via non‐invasive prenatal testing
L. De Falco, Giovanni Savarese, Teresa Suero, Sonia Amabile +3 more
2019Clinical Case Reports3 citations Open access
Semantic Scholar
Targeted molecular profiling of epithelial ovarian cancer from Italian BRCA wild-type patients with a BRCA and PARP pathways gene panel.
A. Salvati, I. Carnevali, E. Alexandrova, Sofia Facchi +12 more
2022Experimental and molecular pathology (Print)2 citations
Semantic Scholar
Corrigendum DYNC1H1‐related disorders: A description of four new unrelated patients and a comprehensive review of previously reported variants. Am J Med Genet A. 2020;182(9):2049–2057. Doi: 10.1002/ajmg.a.61729
Sonia Amabile, L. Jeffries, J. McGrath, Wei-Zhen Ji +3 more
2022American Journal of Medical Genetics. Part A0 citations
Semantic Scholar
Uncovering recessive likely pathogenic variants, using microdeletion sindrome with unusual phenotypes
M. Mucciolo, Sonia Amabile, X. Bonilla, M. Guipponi +15 more
20120 citations
Semantic Scholar

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