IRIS
GIORGIO, ELISA
 Distribuzione geografica
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Continente #
NA - Nord America 2.950
AS - Asia 1.711
EU - Europa 1.447
SA - Sud America 317
Continente sconosciuto - Info sul continente non disponibili 182
AF - Africa 79
OC - Oceania 6
Totale 6.692
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Nazione #
US - Stati Uniti d'America 2.845
CN - Cina 432
SG - Singapore 430
IT - Italia 408
IE - Irlanda 398
HK - Hong Kong 291
VN - Vietnam 234
BR - Brasile 232
RU - Federazione Russa 214
FR - Francia 97
DE - Germania 92
GB - Regno Unito 73
BD - Bangladesh 69
IN - India 62
CA - Canada 49
FI - Finlandia 46
ZA - Sudafrica 45
JP - Giappone 32
AR - Argentina 29
IQ - Iraq 24
MX - Messico 18
SE - Svezia 18
AT - Austria 14
CO - Colombia 14
EC - Ecuador 14
MY - Malesia 13
NL - Olanda 13
ES - Italia 12
ID - Indonesia 12
IR - Iran 12
TR - Turchia 12
PK - Pakistan 11
VE - Venezuela 11
JM - Giamaica 10
PL - Polonia 10
SA - Arabia Saudita 10
UZ - Uzbekistan 10
BE - Belgio 9
MA - Marocco 9
CR - Costa Rica 7
EE - Estonia 7
AZ - Azerbaigian 6
CL - Cile 6
TN - Tunisia 6
AU - Australia 5
IL - Israele 5
KZ - Kazakistan 5
NP - Nepal 5
PE - Perù 5
PH - Filippine 5
AE - Emirati Arabi Uniti 4
CH - Svizzera 4
GT - Guatemala 4
HN - Honduras 4
JO - Giordania 4
OM - Oman 4
UA - Ucraina 4
CZ - Repubblica Ceca 3
EG - Egitto 3
ET - Etiopia 3
GR - Grecia 3
KR - Corea 3
NG - Nigeria 3
PR - Porto Rico 3
PT - Portogallo 3
TH - Thailandia 3
TT - Trinidad e Tobago 3
BN - Brunei Darussalam 2
DO - Repubblica Dominicana 2
DZ - Algeria 2
HU - Ungheria 2
KE - Kenya 2
KG - Kirghizistan 2
LT - Lituania 2
MW - Malawi 2
NI - Nicaragua 2
NO - Norvegia 2
PY - Paraguay 2
RO - Romania 2
RS - Serbia 2
UY - Uruguay 2
AL - Albania 1
BO - Bolivia 1
BW - Botswana 1
BY - Bielorussia 1
CI - Costa d'Avorio 1
DK - Danimarca 1
FK - Isole Falkland (Malvinas) 1
GE - Georgia 1
GP - Guadalupe 1
HR - Croazia 1
IM - Isola di Man 1
KH - Cambogia 1
LB - Libano 1
LU - Lussemburgo 1
LV - Lettonia 1
MM - Myanmar 1
MN - Mongolia 1
MZ - Mozambico 1
NZ - Nuova Zelanda 1
Totale 6.501
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Città #
San Jose 441
Dublin 397
Hong Kong 284
Ashburn 269
Dallas 257
Council Bluffs 219
Chandler 196
Singapore 189
Beijing 133
Boardman 99
Ho Chi Minh City 83
Lauterbourg 77
Los Angeles 75
Princeton 72
Lawrence 66
Milan 66
Shanghai 61
Hanoi 55
Santa Clara 52
New York 41
Redondo Beach 41
Johannesburg 40
Medford 37
Buffalo 36
Moscow 35
Munich 33
Helsinki 32
São Paulo 30
Tokyo 29
Chicago 26
Pavia 24
Rome 24
Orem 20
Columbus 19
The Dalles 18
Atlanta 17
Seattle 17
Bologna 16
Figino 16
London 16
Da Nang 14
Montreal 14
Denver 13
Nanjing 13
Nuremberg 13
Phoenix 13
Turku 13
Chennai 12
Rio de Janeiro 11
Toronto 11
Turin 11
Stockholm 10
Warsaw 10
Brooklyn 9
Frankfurt am Main 9
L’Aquila 9
Mexico City 9
San Francisco 9
Tashkent 9
Brasília 8
Florence 8
Guangzhou 8
Baghdad 7
Belo Horizonte 7
Caracas 7
Ludhiana 7
Manchester 7
Medellín 7
Naples 7
Poplar 7
Zanjan 7
Boston 6
Brussels 6
Charlotte 6
Dhaka 6
Elk Grove Village 6
North Bergen 6
San José 6
Baku 5
Changsha 5
Chongqing 5
Contagem 5
Curitiba 5
Fayetteville 5
Grand Rapids 5
Hyderabad 5
New Delhi 5
Newark 5
Paris 5
Riyadh 5
Sacramento 5
Teramo 5
Amman 4
Ankara 4
Buenos Aires 4
Delhi 4
Guatemala City 4
Guayaquil 4
Haiphong 4
Houston 4
Totale 4.101
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Nome #
Mapping the human genetic architecture of COVID-19 208
ARF1 haploinsufficiency causes periventricular nodular heterotopia with variable clinical expressivity 168
Pathogenic cryptic variants detectable through exome data reanalysis significantly increase the diagnostic yield in Joubert syndrome 145
Biallelic mutations in PSMC3IP are associated with secondary amenorrhea: expanding the spectrum of premature ovarian insufficiency 115
SIMPSON-GOLABI-BEHMEL syndrome type 1: How placental immunohistochemistry can rapidly Predict the diagnosis 110
Rare coding variation provides insight into the genetic architecture and phenotypic context of autism 106
Array-Comparative Genomic Hybridization Analysis in Fetuses with Major Congenital Malformations Reveals that 24% of Cases Have Pathogenic Deletions/Duplications 106
A case of Feingold type 2 syndrome associated with keratoconus refines keratoconus type 7 locus on chromosome 13q 103
A syndromic extreme insulin resistance caused by biallelic POC1A mutations in exon 10 101
Mitochondrial Complex I Deficiency: Unraveling the Relevance of NDUFAF1 in Pediatric Hypertrophic Cardiomyopathy 99
A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD) 99
A high-content drug screening strategy to identify protein level modulators for genetic diseases: A proof-of-principle in autosomal dominant leukodystrophy 99
A novel case of Greenberg dysplasia and genotype-phenotype correlation analysis for LBR pathogenic variants: An instructive example of one gene-multiple phenotypes 97
Terapia mediata da RNA di interferenza per malattie neurodegenerative 95
A novel homozygous change of CLCN2 (p.His590Pro) is associated with a subclinical form of leukoencephalopathy with ataxia (LKPAT) 94
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 92
A fetal case of microphthalmia and limb anomalies with abnormal neuronal migration associated with SMOC1 biallelic variants 92
A 20-year long term experience of the Italian Diamond-Blackfan Anaemia Registry: RPS and RPL genes, different faces of the same disease? 91
Allele-specific silencing as treatment for gene duplication disorders: proof-of-principle in autosomal dominant leukodystrophy 90
Adult-onset autosomal recessive ataxia associated with neuronal ceroid lipofuscinosis type 5 gene (CLN5) mutations 90
Expanding the phenotype of Brunner syndrome from childhood to adulthood: Description of the second pediatric patient and his mother 89
Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism 88
Design of a multiplex ligation-dependent probe amplification assay for SLC20A2: identification of two novel deletions in primary familial brain calcification 82
Functional analysis of TLK2 variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis 81
DLG4-related synaptopathy: a new rare brain disorder 81
DNA methylation analysis in patients with neurodevelopmental disorders improves variant interpretation and reveals complexity 79
Dental anomalies as a possible clue of 1p36 deletion syndrome due to germline mosaicism: A case report 78
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 77
Structural Variants at the LMNB1 Locus: Deciphering Pathomechanisms in Autosomal Dominant Adult-Onset Demyelinating Leukodystrophy 76
Expanding the clinical phenotype of the ultra-rare Skraban-Deardorff syndrome: Two novel individuals with WDR26 loss-of-function variants and a literature review 76
A SPORADIC CASE OF AUTOSOMAL DOMINANT LEUKODYSTROPHY (ADLD) 75
Contribution of autosomal rare and de novo variants to sex differences in autism 74
Strategie molecolari per la correzione di anomalie cromosomiche 73
Novel mutation of SLC20A2 in an Italian patient presenting with migraine 73
Analysis of LMNB1 Duplications in Autosomal Dominant Leukodystrophy Provides Insights into Duplication Mechanisms and Allele-Specific Expression 73
Autosomal dominant leukodystrophy: characterization of eight famiglie with homogeneous phenorype 73
Marked intrafamilial variability of clinical and neuroimaging manifestations in NFIB-related developmental disorder 72
A Novel CSF1R Mutation in a Patient with Clinical and Neuroradiological Features of Hereditary Diffuse Leukoencephalopathy with Axonal Spheroids 71
A novel cct5 missense variant associated with early onset motor neuropathy 71
De novo RANBP2 variant in a fetal demise case with cerebral intraparenchymal hemorrhage 70
CLINICAL AND GENETIC HETEROGENEITY OF FAMILIAL LEUKOENCEPHALOPATHY AND CEREBRAL HAEMORRAGE 70
A NOVEL 3Q29 DELETION ASSOCIATED WITH AUTISM, INTELLECTUAL DISABILITY, PSYCHIATRIC DISORDERS, AND OBESITY 70
Recessive gene disruptions in autism spectrum disorder 70
A genome-wide association study with tissue transcriptomics identifies genetic drivers for classic bladder exstrophy 69
Mek inhibition in a newborn with raf1-associated noonan syndrome ameliorates hypertrophic cardiomyopathy but is insufficient to revert pulmonary vascular disease 67
X chromosome dosage and presence of SRY shape sex-specific differences in DNA methylation at an autosomal region in human cells 67
O056. Migraine as presenting symptom of SLC20A2gene mutations 67
Large cryptic genomic rearrangements with apparently normal karyotypes detected by array-CGH 65
Novel LRPPRC compound heterozygous mutation in a child with early-onset Leigh syndrome French-Canadian type: Case report of an Italian patient 65
Pathogenic de novo variants in PPP2R5C cause a neurodevelopmental disorder within the Houge-Janssens syndrome spectrum 64
Wilms tumour occurring in a patient with osteopathia striata with cranial sclerosis: A still unsolved biological question 63
Autozygosity-driven genetic diagnosis in consanguineous families from Italy and the Greater Middle East 63
Prevalence and phenotype of the c.1529C>T SPG7 variant in adult-onset cerebellar ataxia in Italy 63
Protein Stability Perturbation Contributes to the Loss of Function in Haploinsufficient Genes 62
AN ATYPICAL FORM OF AOA2 WITH MYOCLONUS ASSOCIATED WITH MUTATIONS IN SETX AND AFG3L2 62
Functional evaluation of Natural Killer cell cytotoxic activity in NFKB2-mutated patients 62
Enhancer hijacking at the ARHGAP36 locus is associated with connective tissue to bone transformation 61
Mice harbouring a SCA28 patient mutation in AFG3L2 develop late-onset ataxia associated with enhanced mitochondrial proteotoxicity 61
Possible Influence of a Non-Synonymous Polymorphism Located in the NGF Precursor on Susceptibility to Late-Onset Alzheimer's Disease and Mild Cognitive Impairment 60
Spontaneous remission in a Diamond-Blackfan anaemia patient due to a revertant uniparental disomy ablating a de novo RPS19 mutation 60
RNA therapeutics for neurological diseases 59
Expanding the phenotype of Brunner syndrome from childhood to adulthood: Description of the second pediatric patient and his mother 58
Electroclinical features and outcome of ANKRD11-related KBG syndrome: A novel report and literature review 58
The crucial role of titin in fetal development: recurrent miscarriages and bone, heart and muscle anomalies characterise the severe end of titinopathies spectrum 57
Exome sequencing reveals a rare damaging variant in GRIN2C in familial late-onset Alzheimer's disease 57
Clinical Practice Guidelines for the Diagnosis, Management, and Surveillance of LMNB1 -Related Autosomal Dominant Leukodystrophy 56
Messanger RNA processing is altered in autosomal dominant leukodystrophy 56
Exome sequencing in children of women with skewed X-inactivation identifies atypical cases and complex phenotypes 56
Genomic deletions upstream of lamin B1 lead to atypical autosomal dominant leukodystrophy 55
Biallelic mutations in PSMC3IP are associated with secondary amenorrhea: expanding the spectrum of premature ovarian insufficiency 54
In vitro dexamethasone treatment does not induce alternative ATM transcripts in cells from Ataxia–Telangiectasia patients 52
Interface Gain-of-Function Mutations in TLR7 Cause Systemic and Neuro-inflammatory Disease 51
Functional and clinical implications of genetic structure in 1686 Italian exomes 51
Lamin B1 as a key modulator of the developing and aging brain 50
Two families with novel missense mutations in COL4A1: When diagnosis can be missed 50
Cover Image, Volume 170A, Number 7, July 2016 50
Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof-of-concept examples 50
Understanding the Ultra-Rare Disease Autosomal Dominant Leukodystrophy: an Updated Review on Morpho-Functional Alterations Found in Experimental Models 49
The impact of clinical genome sequencing in a global population with suspected rare genetic disease 47
HEALTH TECHNOLOGY ASSESSMENT OF GENETIC TESTING FOR SUSCEPTIBILITY TO VENOUS THROMBOEMBOLISM IN ITALY 47
NBAS pathogenic variants: defining the associated clinical and facial phenotype and genotype-phenotype correlations 47
Clinical spectrum and follow-up in six individuals with Lamb–Shaffer syndrome (SOX5) 47
SLC20A1 Is Involved in Urinary Tract and Urorectal Development 47
Heterozygous NOTCH1 Variants Cause CNS Immune Activation and Microangiopathy 47
Prenatal findings of cataract and arthrogryposis: recurrence of cerebro-oculo-facio-skeletal syndrome and review of differential diagnosis 46
ELOVL5 Mutations Cause Spinocerebellar Ataxia 38 45
Three novel missense mutations in SLC20A2 associated with idiopathic basal ganglia calcification 44
Interface Gain-of-Function Mutations in TLR7 Cause Systemic and Neuro-inflammatory Disease 42
SCA Tethering-PCR: A Rapid Genetic Test for the Diagnosis of SCA1-3, 6, and 7 by PCR and Capillary Electrophoresis 42
Advancing Neuropediatric Rare Disease Diagnosis Through Clinical Genome Sequencing 40
Severe fluoropyrimidine-related toxicity: clinical implications of DPYD analysis and UH2/U ratio evaluation 40
Provision of genetic testing for inherited thrombophilia in Italy 39
High miR-100 expression is associated with aggressive features and modulates TORC1 complex activation in lung carcinoids 33
Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition 25
Deleterious coding variation associated with autism is shared across ancestries 22
Totale 6.692
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Categoria #
all - tutte 34.740
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 34.740
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
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
2024/20251.173 42 97 6 3 10 56 53 60 314 58 144 330
2025/20263.020 218 306 268 299 333 82 539 176 315 238 160 86
2026/2027961 96 275 214 376 0 0 0 0 0 0 0 0
Totale 6.692