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I. Meloni · SciRah

Researcher profile · Semantic Scholar

I. Meloni

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I. Meloni — researcher profile on SciRah

h-index: 39
Works: 103
Citations: 4,751

Most-cited papers

FOXG1 is responsible for the congenital variant of Rett syndrome.
F. Ariani, G. Hayek, D. Rondinella, R. Artuso +12 more
2008American Journal of Human Genetics452 citations Open access
Semantic Scholar
CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms
E. Scala, F. Ariani, F. Mari, R. Caselli +8 more
2005Journal of Medical Genetics250 citations Open access
Semantic Scholar
A mutation in the rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males.
I. Meloni, M. Bruttini, I. Longo, F. Mari +6 more
2000American Journal of Human Genetics246 citations Open access
Semantic Scholar
COL4A3/COL4A4 mutations: from familial hematuria to autosomal-dominant or recessive Alport syndrome.
I. Longo, P. Porcedda, F. Mari, D. Giachino +16 more
2002Kidney International220 citations Open access
Semantic Scholar
ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population
E. Benetti, R. Tita, O. Spiga, A. Ciolfi +134 more
2020European Journal of Human Genetics205 citations Open access
Semantic Scholar
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
Association of Toll-like receptor 7 variants with life-threatening COVID-19 disease in males: findings from a nested case-control study
C. Fallerini, S. Daga, S. Mantovani, E. Benetti +144 more
2021eLife155 citations Open access
Semantic Scholar
FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation
I. Meloni, M. Muscettola, M. Raynaud, I. Longo +14 more
2002Nature Genetics151 citations
Semantic Scholar
Preserved speech variants of the Rett syndrome: molecular and clinical analysis.
M. Zappella, I. Meloni, I. Longo, G. Hayek +1 more
2001American journal of medical genetics145 citations
Semantic Scholar
Real‐time quantitative PCR as a routine method for screening large rearrangements in Rett syndrome: Report of one case of MECP2 deletion and one case of MECP2 duplication
F. Ariani, F. Mari, C. Pescucci, I. Longo +6 more
2004Human Mutation119 citations Open access
Semantic Scholar
Diagnostic criteria for the Zappella variant of Rett syndrome (the preserved speech variant).
A. Renieri, F. Mari, M. Mencarelli, E. Scala +7 more
2009Brain & development (Tokyo. 1979)111 citations
Semantic Scholar
Study of MECP2 gene in Rett syndrome variants and autistic girls
M. Zappella, I. Meloni, I. Longo, R. Canitano +4 more
2003American Journal of Medical Genetics Part B: Neuropsychiatric Genetics99 citations Open access
Semantic Scholar
Rett syndrome: the complex nature of a monogenic disease
A. Renieri, I. Meloni, I. Longo, F. Ariani +3 more
2003Journal of molecular medicine99 citations
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
A 3 Mb deletion in 14q12 causes severe mental retardation, mild facial dysmorphisms and Rett‐like features
F. T. Papa, M. Mencarelli, R. Caselli, E. Katzaki +11 more
2008American Journal of Medical Genetics. Part A70 citations
Semantic Scholar
Private inherited microdeletion/microduplications: implications in clinical practice.
M. Mencarelli, E. Katzaki, F. T. Papa, K. Sampieri +13 more
2008European Journal of Medical Genetics64 citations
Semantic Scholar
Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females
Marcella Vacca, F. Filippini, A. Budillon, V. Rossi +18 more
2001Journal of molecular medicine62 citations
Semantic Scholar
Rare variants in Toll-like receptor 7 results in functional impairment and downregulation of cytokine-mediated signaling in COVID-19 patients
S. Mantovani, S. Daga, C. Fallerini, M. Baldassarri +189 more
2021Genes and Immunity61 citations Open access
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
Revealing the Complexity of a Monogenic Disease: Rett Syndrome Exome Sequencing
Elisa Grillo, Caterina Lo Rizzo, L. Bianciardi, V. Bizzarri +14 more
2013PLoS ONE60 citations Open access
Semantic Scholar
Epstein syndrome: another renal disorder with mutations in the nonmuscle myosin heavy chain 9 gene
M. Seri, M. Savino, D. Bordo, R. Cusano +12 more
2002Human Genetics58 citations
Semantic Scholar
Epilepsy in Rett syndrome—Lessons from the Rett networked database
A. Nissenkorn, Rachel S. Levy-Drummer, Ori Bondi, A. Renieri +22 more
2015Epilepsia56 citations Open access
Semantic Scholar
Chromosome 2 deletion encompassing the MAP2 gene in a patient with autism and Rett‐like features
C. Pescucci, I. Meloni, M. Bruttini, F. Ariani +6 more
2003Clinical Genetics56 citations
Semantic Scholar
Genomic differences between retinoma and retinoblastoma
K. Sampieri, M. Mencarelli, Maria Carmela Epistolato, P. Toti +10 more
2008Acta oncologica54 citations Open access
Semantic Scholar
Shorter androgen receptor polyQ alleles protect against life-threatening COVID-19 disease in European males
M. Baldassarri, Nicola Picchiotti, F. Fava, C. Fallerini +145 more
2021EBioMedicine53 citations Open access
Semantic Scholar
Non‐syndromic X‐linked mental retardation: From a molecular to a clinical point of view
A. Renieri, C. Pescucci, I. Longo, F. Ariani +2 more
2005Journal of Cellular Physiology51 citations
Semantic Scholar
Gene replacement ameliorates deficits in mouse and human models of cyclin-dependent kinase-like 5 disorder.
Yunan Gao, E. Irvine, I. Eleftheriadou, Carlos Naranjo +9 more
2020Brain : a journal of neurology50 citations Open access
Semantic Scholar
Autosomal recessive Alport syndrome: an in-depth clinical and molecular analysis of five families.
I. Longo, E. Scala, F. Mari, R. Caselli +11 more
2006Nephrology, Dialysis and Transplantation50 citations Open access
Semantic Scholar
14q12 Microdeletion syndrome and congenital variant of Rett syndrome.
M. Mencarelli, T. Kleefstra, E. Katzaki, F. T. Papa +6 more
2009European Journal of Medical Genetics49 citations
Semantic Scholar
A third MRX family (MRX68) is the result of mutation in the long chain fatty acid-CoA ligase 4 (FACL4) gene: proposal of a rapid enzymatic assay for screening mentally retarded patients
I. Longo, S. Frints, J. Fryns, I. Meloni +8 more
2003Journal of Medical Genetics49 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
Inherited human IRAK-1 deficiency selectively impairs TLR signaling in fibroblasts
E. Della Mina, A. Borghesi, Hao Zhou, S. Bougarn +22 more
2017Proceedings of the National Academy of Sciences of the United States of America48 citations Open access
Semantic Scholar
Pseudoxanthoma elasticum: Point mutations in the ABCC6 gene and a large deletion including also ABCC1 and MYH11
I. Meloni, P. Rubegni, G. de Aloe, M. Bruttini +9 more
2001Human Mutation47 citations Open access
Semantic Scholar
The XLMR gene ACSL4 plays a role in dendritic spine architecture.
I. Meloni, Veronica Parri, R. de Filippis, F. Ariani +8 more
2009Neuroscience46 citations
Semantic Scholar
The polymorphism L412F in TLR3 inhibits autophagy and is a marker of severe COVID-19 in males
S. Croci, M. Venneri, S. Mantovani, C. Fallerini +29 more
2021medRxiv44 citations Open access
Semantic Scholar
Array comparative genomic hybridization in retinoma and retinoblastoma tissues
K. Sampieri, M. Amenduni, F. T. Papa, E. Katzaki +15 more
2009Cancer Science44 citations Open access
Semantic Scholar
Visual impairment in FOXG1-mutated individuals and mice.
E. Boggio, L. Pancrazi, M. Gennaro, C. L. Rizzo +12 more
2016Neuroscience43 citations Open access
Semantic Scholar
Next generation sequencing in sporadic retinoblastoma patients reveals somatic mosaicism
S. Amitrano, A. Marozza, Serena Somma, Valentina Imperatore +15 more
2015European Journal of Human Genetics42 citations Open access
Semantic Scholar
Employing a systematic approach to biobanking and analyzing clinical and genetic data for advancing COVID-19 research
S. Daga, C. Fallerini, M. Baldassarri, F. Fava +23 more
2021European Journal of Human Genetics39 citations Open access
Semantic Scholar
Germline mosaicism in Rett syndrome identified by prenatal diagnosis
F. Mari, R. Caselli, S. Russo, F. Cogliati +12 more
2005Clinical Genetics39 citations Open access
Semantic Scholar
The alliance between genetic biobanks and patient organisations: the experience of the telethon network of genetic biobanks
C. Baldo, L. Casareto, A. Renieri, G. Merla +15 more
2016Orphanet Journal of Rare Diseases36 citations Open access
Semantic Scholar
Neurological presentation of Ehlers–Danlos syndrome type IV in a family with parental mosaicism
S. Palmeri, F. Mari, I. Meloni, A. Malandrini +6 more
2003Clinical Genetics35 citations
Semantic Scholar
Alport syndrome and leiomyomatosis: the first deletion extending beyond COL4A6 intron 2
V. Uliana, Elena Marcocci, M. Mucciolo, I. Meloni +7 more
2011Pediatric nephrology (Berlin, West)34 citations
Semantic Scholar
Italian Rett database and biobank
K. Sampieri, I. Meloni, E. Scala, F. Ariani +12 more
2007Human Mutation33 citations Open access
Semantic Scholar
MECP2 gene mutation analysis in the British and Italian Rett Syndrome patients: hot spot map of the most recurrent mutations and bioinformatic analysis of a new MECP2 conserved region.
Marcella Vacca, F. Filippini, A. Budillon, V. Rossi +20 more
2001Brain & development (Tokyo. 1979)32 citations
Semantic Scholar
Alport syndrome and mental retardation: clinical and genetic dissection of the contiguous gene deletion syndrome in Xq22.3 (ATS-MR)
I. Meloni, F. Vitelli, L. Pucci, R. Lowry +7 more
2002Journal of Medical Genetics30 citations Open access
Semantic Scholar
Three Rett patients with both MECP2 mutation and 15q11–13 rearrangements
I. Longo, L. Russo, I. Meloni, I. Ricci +9 more
2004European Journal of Human Genetics28 citations Open access
Semantic Scholar
MECP2 missense mutations outside the canonical MBD and TRD domains in males with intellectual disability
L. Bianciardi, M. Fichera, P. Failla, C. Di Marco +9 more
2015Journal of Human Genetics27 citations Open access
Semantic Scholar
Expanding the phenotype associated with FOXG1 mutations and in vivo FoxG1 chromatin‐binding dynamics
R. de Filippis, L. Pancrazi, K. Bjørgo, Ariele Rosseto +11 more
2012Clinical Genetics27 citations
Semantic Scholar
Mild brachydactyly type A1 maps to chromosome 2q35-q36 and is caused by a novel IHH mutation in a three generation family
N. Giordano, L. Gennari, M. Bruttini, F. Mari +10 more
2003Journal of Medical Genetics27 citations Open access
Semantic Scholar

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