IRIS
GIORGIO, ELISA
 Distribuzione geografica
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Continente #
NA - Nord America 829
EU - Europa 571
AS - Asia 112
OC - Oceania 5
SA - Sud America 4
Totale 1.521
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Nazione #
US - Stati Uniti d'America 826
IE - Irlanda 395
IT - Italia 104
CN - Cina 70
FI - Finlandia 30
DE - Germania 17
SG - Singapore 13
IR - Iran 10
JP - Giappone 10
SE - Svezia 7
AU - Australia 4
BE - Belgio 4
GB - Regno Unito 4
MY - Malesia 4
BR - Brasile 3
FR - Francia 3
CA - Canada 2
CH - Svizzera 2
ID - Indonesia 2
RU - Federazione Russa 2
FK - Isole Falkland (Malvinas) 1
HK - Hong Kong 1
IM - Isola di Man 1
IN - India 1
MX - Messico 1
NL - Olanda 1
NZ - Nuova Zelanda 1
SI - Slovenia 1
TR - Turchia 1
Totale 1.521
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Città #
Dublin 395
Chandler 196
Boardman 98
Ashburn 87
Princeton 69
Lawrence 66
Shanghai 57
Medford 37
Helsinki 30
Milan 14
Chicago 13
Tokyo 10
L’Aquila 9
Seattle 9
New York 8
Singapore 7
Zanjan 7
Beijing 5
Pavia 5
Sacramento 5
Brussels 4
Washington 4
Los Angeles 3
Sydney 3
Wilmington 3
Andover 2
Azzano San Paolo 2
Eskilstuna 2
Fairfield 2
Jakarta 2
Leawood 2
Livorno 2
Menlo Park 2
Monmouth Junction 2
Paris 2
San Francisco 2
Afragola 1
Aguascalientes 1
Americana 1
Ann Arbor 1
Auckland 1
Berlin 1
Bologna 1
Borås 1
Bra 1
Cambridge 1
Cesena 1
Charlotte 1
Corsico 1
Dallas 1
Douglas 1
Fayetteville 1
Genova 1
Henderson 1
Houston 1
Hyderabad 1
Kashan 1
Kish 1
Ljubljana 1
Lodi 1
London 1
Markham 1
Melbourne 1
Nanjing 1
Norwalk 1
Novara 1
Oklahoma City 1
Palermo 1
Pisa 1
Podenzano 1
Pomezia 1
Reston 1
Richmond 1
Rockville 1
Rome 1
Santa Cruz do Sul 1
Shenzhen 1
Sumaré 1
Turin 1
Vicenza 1
Xiangtan 1
Yiwu 1
Totale 1.212
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Nome #
Mapping the human genetic architecture of COVID-19 88
ARF1 haploinsufficiency causes periventricular nodular heterotopia with variable clinical expressivity 39
CLINICAL AND GENETIC HETEROGENEITY OF FAMILIAL LEUKOENCEPHALOPATHY AND CEREBRAL HAEMORRAGE 35
Design of a multiplex ligation-dependent probe amplification assay for SLC20A2: identification of two novel deletions in primary familial brain calcification 35
A case of Feingold type 2 syndrome associated with keratoconus refines keratoconus type 7 locus on chromosome 13q 34
Terapia mediata da RNA di interferenza per malattie neurodegenerative 33
Autosomal dominant leukodystrophy: characterization of eight famiglie with homogeneous phenorype 33
Allele-specific silencing as treatment for gene duplication disorders: proof-of-principle in autosomal dominant leukodystrophy 32
A syndromic extreme insulin resistance caused by biallelic POC1A mutations in exon 10 32
A 20-year long term experience of the Italian Diamond-Blackfan Anaemia Registry: RPS and RPL genes, different faces of the same disease? 31
Dental anomalies as a possible clue of 1p36 deletion syndrome due to germline mosaicism: A case report 30
SIMPSON-GOLABI-BEHMEL syndrome type 1: How placental immunohistochemistry can rapidly Predict the diagnosis 29
Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes 29
Array-Comparative Genomic Hybridization Analysis in Fetuses with Major Congenital Malformations Reveals that 24% of Cases Have Pathogenic Deletions/Duplications 28
Wilms tumour occurring in a patient with osteopathia striata with cranial sclerosis: A still unsolved biological question 28
Autozygosity-driven genetic diagnosis in consanguineous families from Italy and the Greater Middle East 28
Adult-onset autosomal recessive ataxia associated with neuronal ceroid lipofuscinosis type 5 gene (CLN5) mutations 28
O056. Migraine as presenting symptom of SLC20A2gene mutations 28
Marked intrafamilial variability of clinical and neuroimaging manifestations in NFIB-related developmental disorder 27
Analysis of LMNB1 Duplications in Autosomal Dominant Leukodystrophy Provides Insights into Duplication Mechanisms and Allele-Specific Expression 27
A SPORADIC CASE OF AUTOSOMAL DOMINANT LEUKODYSTROPHY (ADLD) 27
Biallelic mutations in PSMC3IP are associated with secondary amenorrhea: expanding the spectrum of premature ovarian insufficiency 27
Genomic deletions upstream of lamin B1 lead to atypical autosomal dominant leukodystrophy 26
A fetal case of microphthalmia and limb anomalies with abnormal neuronal migration associated with SMOC1 biallelic variants 26
Exome sequencing in children of women with skewed X-inactivation identifies atypical cases and complex phenotypes 26
Electroclinical features and outcome of ANKRD11-related KBG syndrome: A novel report and literature review 25
Analysis of the DNA methylation pattern of the promoter region of calcitonin gene-related peptide 1 gene in patients with episodic migraine: An exploratory case-control study 24
A novel case of Greenberg dysplasia and genotype-phenotype correlation analysis for LBR pathogenic variants: An instructive example of one gene-multiple phenotypes 24
A Novel CSF1R Mutation in a Patient with Clinical and Neuroradiological Features of Hereditary Diffuse Leukoencephalopathy with Axonal Spheroids 24
Cover Image, Volume 170A, Number 7, July 2016 24
A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD) 24
Novel LRPPRC compound heterozygous mutation in a child with early-onset Leigh syndrome French-Canadian type: Case report of an Italian patient 24
DLG4-related synaptopathy: a new rare brain disorder 24
ELOVL5 Mutations Cause Spinocerebellar Ataxia 38 23
A high-content drug screening strategy to identify protein level modulators for genetic diseases: A proof-of-principle in autosomal dominant leukodystrophy 23
A novel homozygous change of CLCN2 (p.His590Pro) is associated with a subclinical form of leukoencephalopathy with ataxia (LKPAT) 21
A NOVEL 3Q29 DELETION ASSOCIATED WITH AUTISM, INTELLECTUAL DISABILITY, PSYCHIATRIC DISORDERS, AND OBESITY 21
Messanger RNA processing is altered in autosomal dominant leukodystrophy 21
Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism 20
Novel mutation of SLC20A2 in an Italian patient presenting with migraine 20
X chromosome dosage and presence of SRY shape sex-specific differences in DNA methylation at an autosomal region in human cells 20
A novel cct5 missense variant associated with early onset motor neuropathy 19
In vitro dexamethasone treatment does not induce alternative ATM transcripts in cells from Ataxia–Telangiectasia patients 18
AN ATYPICAL FORM OF AOA2 WITH MYOCLONUS ASSOCIATED WITH MUTATIONS IN SETX AND AFG3L2 18
Clinical spectrum and follow-up in six individuals with Lamb–Shaffer syndrome (SOX5) 18
Possible Influence of a Non-Synonymous Polymorphism Located in the NGF Precursor on Susceptibility to Late-Onset Alzheimer's Disease and Mild Cognitive Impairment 17
Mek inhibition in a newborn with raf1-associated noonan syndrome ameliorates hypertrophic cardiomyopathy but is insufficient to revert pulmonary vascular disease 17
Functional evaluation of Natural Killer cell cytotoxic activity in NFKB2-mutated patients 17
Expanding the phenotype of Brunner syndrome from childhood to adulthood: Description of the second pediatric patient and his mother 16
Large cryptic genomic rearrangements with apparently normal karyotypes detected by array-CGH 16
Recessive gene disruptions in autism spectrum disorder 16
Rare coding variation provides insight into the genetic architecture and phenotypic context of autism 15
SLC20A1 Is Involved in Urinary Tract and Urorectal Development 15
Structural Variants at the LMNB1 Locus: Deciphering Pathomechanisms in Autosomal Dominant Adult-Onset Demyelinating Leukodystrophy 14
Mice harbouring a SCA28 patient mutation in AFG3L2 develop late-onset ataxia associated with enhanced mitochondrial proteotoxicity 14
Expanding the clinical phenotype of the ultra-rare Skraban-Deardorff syndrome: Two novel individuals with WDR26 loss-of-function variants and a literature review 14
Functional and clinical implications of genetic structure in 1686 Italian exomes 14
Two families with novel missense mutations in COL4A1: When diagnosis can be missed 13
HEALTH TECHNOLOGY ASSESSMENT OF GENETIC TESTING FOR SUSCEPTIBILITY TO VENOUS THROMBOEMBOLISM IN ITALY 13
Protein Stability Perturbation Contributes to the Loss of Function in Haploinsufficient Genes 13
Spontaneous remission in a Diamond-Blackfan anaemia patient due to a revertant uniparental disomy ablating a de novo RPS19 mutation 13
Prevalence and phenotype of the c.1529C>T SPG7 variant in adult-onset cerebellar ataxia in Italy 13
Three novel missense mutations in SLC20A2 associated with idiopathic basal ganglia calcification 12
Severe fluoropyrimidine-related toxicity: clinical implications of DPYD analysis and UH2/U ratio evaluation 12
Prenatal findings of cataract and arthrogryposis: recurrence of cerebro-oculo-facio-skeletal syndrome and review of differential diagnosis 12
A genome-wide association study with tissue transcriptomics identifies genetic drivers for classic bladder exstrophy 11
Strategie molecolari per la correzione di anomalie cromosomiche 11
SCA Tethering-PCR: A Rapid Genetic Test for the Diagnosis of SCA1-3, 6, and 7 by PCR and Capillary Electrophoresis 11
NBAS pathogenic variants: defining the associated clinical and facial phenotype and genotype-phenotype correlations 11
Functional analysis of TLK2 variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis 11
Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof-of-concept examples 11
Interface Gain-of-Function Mutations in TLR7 Cause Systemic and Neuro-inflammatory Disease 10
High miR-100 expression is associated with aggressive features and modulates TORC1 complex activation in lung carcinoids 10
Lamin B1 as a key modulator of the developing and aging brain 9
Provision of genetic testing for inherited thrombophilia in Italy 9
RNA therapeutics for neurological diseases 8
The crucial role of titin in fetal development: recurrent miscarriages and bone, heart and muscle anomalies characterise the severe end of titinopathies spectrum 7
Enhancer hijacking at the ARHGAP36 locus is associated with connective tissue to bone transformation 6
Heterozygous NOTCH1 Variants Cause CNS Immune Activation and Microangiopathy 6
De novo RANBP2 variant in a fetal demise case with cerebral intraparenchymal hemorrhage 5
Understanding the Ultra-Rare Disease Autosomal Dominant Leukodystrophy: an Updated Review on Morpho-Functional Alterations Found in Experimental Models 5
DNA methylation analysis in patients with neurodevelopmental disorders improves variant interpretation and reveals complexity 4
Interface Gain-of-Function Mutations in TLR7 Cause Systemic and Neuro-inflammatory Disease 4
The impact of clinical genome sequencing in a global population with suspected rare genetic disease 3
Totale 1.679
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Categoria #
all - tutte 11.950
article - articoli 0
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 11.950
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/20213 0 0 0 0 0 0 0 0 3 0 0 0
2021/2022255 0 0 0 0 0 0 0 84 6 4 27 134
2022/2023821 110 51 5 17 50 57 1 44 455 7 18 6
2023/2024459 35 41 10 21 33 99 61 18 5 13 12 111
2024/2025141 42 97 2 0 0 0 0 0 0 0 0 0
Totale 1.679