IRIS
GIORGIO, ELISA
 Distribuzione geografica
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Continente #
NA - Nord America 2.406
AS - Asia 1.700
EU - Europa 1.337
SA - Sud America 299
Continente sconosciuto - Info sul continente non disponibili 182
AF - Africa 79
OC - Oceania 6
Totale 6.009
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Nazione #
US - Stati Uniti d'America 2.338
CN - Cina 432
SG - Singapore 430
IE - Irlanda 397
IT - Italia 329
HK - Hong Kong 290
VN - Vietnam 233
BR - Brasile 222
RU - Federazione Russa 214
FR - Francia 96
DE - Germania 88
BD - Bangladesh 67
IN - India 62
GB - Regno Unito 58
FI - Finlandia 46
ZA - Sudafrica 45
CA - Canada 35
JP - Giappone 31
AR - Argentina 28
IQ - Iraq 24
SE - Svezia 18
MX - Messico 17
AT - Austria 14
MY - Malesia 13
EC - Ecuador 12
ES - Italia 12
IR - Iran 12
TR - Turchia 12
CO - Colombia 11
NL - Olanda 11
PK - Pakistan 11
ID - Indonesia 10
UZ - Uzbekistan 10
VE - Venezuela 10
MA - Marocco 9
PL - Polonia 9
SA - Arabia Saudita 9
BE - Belgio 8
AZ - Azerbaigian 6
JM - Giamaica 6
TN - Tunisia 6
AU - Australia 5
CL - Cile 5
PE - Perù 5
PH - Filippine 5
AE - Emirati Arabi Uniti 4
CH - Svizzera 4
IL - Israele 4
JO - Giordania 4
KZ - Kazakistan 4
NP - Nepal 4
OM - Oman 4
CZ - Repubblica Ceca 3
EE - Estonia 3
EG - Egitto 3
ET - Etiopia 3
GR - Grecia 3
GT - Guatemala 3
KR - Corea 3
NG - Nigeria 3
PT - Portogallo 3
TH - Thailandia 3
UA - Ucraina 3
BN - Brunei Darussalam 2
CR - Costa Rica 2
DO - Repubblica Dominicana 2
DZ - Algeria 2
HN - Honduras 2
HU - Ungheria 2
KE - Kenya 2
KG - Kirghizistan 2
LT - Lituania 2
MW - Malawi 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
FK - Isole Falkland (Malvinas) 1
GE - Georgia 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
PR - Porto Rico 1
QA - Qatar 1
SI - Slovenia 1
SK - Slovacchia (Repubblica Slovacca) 1
SN - Senegal 1
Totale 5.824
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Città #
Dublin 397
San Jose 362
Hong Kong 283
Dallas 250
Ashburn 244
Chandler 196
Singapore 189
Beijing 133
Council Bluffs 119
Boardman 99
Ho Chi Minh City 82
Lauterbourg 77
Los Angeles 69
Princeton 69
Lawrence 66
Shanghai 61
Milan 56
Hanoi 55
Redondo Beach 41
Johannesburg 40
New York 38
Medford 37
Moscow 35
Santa Clara 35
Buffalo 33
Munich 33
Helsinki 32
São Paulo 28
Tokyo 28
Chicago 22
Orem 19
The Dalles 18
Columbus 17
Rome 17
Figino 16
Pavia 16
Seattle 15
Bologna 14
Da Nang 14
London 14
Denver 13
Montreal 13
Nanjing 13
Nuremberg 13
Turku 13
Atlanta 12
Chennai 12
Phoenix 11
Rio de Janeiro 10
Stockholm 10
Brooklyn 9
Frankfurt am Main 9
L’Aquila 9
Tashkent 9
Turin 9
Warsaw 9
Guangzhou 8
Mexico City 8
Toronto 8
Baghdad 7
Belo Horizonte 7
Ludhiana 7
Poplar 7
Zanjan 7
Brasília 6
Brussels 6
Caracas 6
Dhaka 6
Elk Grove Village 6
Manchester 6
San Francisco 6
Baku 5
Boston 5
Changsha 5
Charlotte 5
Chongqing 5
Contagem 5
Grand Rapids 5
Hyderabad 5
Medellín 5
New Delhi 5
Paris 5
Sacramento 5
Teramo 5
Amman 4
Ankara 4
Buenos Aires 4
Curitiba 4
Delhi 4
Florence 4
Haiphong 4
Houston 4
Hải Dương 4
Jakarta 4
Lahore 4
Mumbai 4
Quảng Ngãi 4
Riyadh 4
Shenzhen 4
Sydney 4
Totale 3.773
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Nome #
Mapping the human genetic architecture of COVID-19 200
ARF1 haploinsufficiency causes periventricular nodular heterotopia with variable clinical expressivity 164
Pathogenic cryptic variants detectable through exome data reanalysis significantly increase the diagnostic yield in Joubert syndrome 137
Biallelic mutations in PSMC3IP are associated with secondary amenorrhea: expanding the spectrum of premature ovarian insufficiency 110
SIMPSON-GOLABI-BEHMEL syndrome type 1: How placental immunohistochemistry can rapidly Predict the diagnosis 103
Array-Comparative Genomic Hybridization Analysis in Fetuses with Major Congenital Malformations Reveals that 24% of Cases Have Pathogenic Deletions/Duplications 100
Mitochondrial Complex I Deficiency: Unraveling the Relevance of NDUFAF1 in Pediatric Hypertrophic Cardiomyopathy 96
A syndromic extreme insulin resistance caused by biallelic POC1A mutations in exon 10 96
A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD) 94
A case of Feingold type 2 syndrome associated with keratoconus refines keratoconus type 7 locus on chromosome 13q 93
A high-content drug screening strategy to identify protein level modulators for genetic diseases: A proof-of-principle in autosomal dominant leukodystrophy 91
A novel case of Greenberg dysplasia and genotype-phenotype correlation analysis for LBR pathogenic variants: An instructive example of one gene-multiple phenotypes 90
A novel homozygous change of CLCN2 (p.His590Pro) is associated with a subclinical form of leukoencephalopathy with ataxia (LKPAT) 90
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 87
A fetal case of microphthalmia and limb anomalies with abnormal neuronal migration associated with SMOC1 biallelic variants 87
Terapia mediata da RNA di interferenza per malattie neurodegenerative 86
Adult-onset autosomal recessive ataxia associated with neuronal ceroid lipofuscinosis type 5 gene (CLN5) mutations 85
A 20-year long term experience of the Italian Diamond-Blackfan Anaemia Registry: RPS and RPL genes, different faces of the same disease? 82
Allele-specific silencing as treatment for gene duplication disorders: proof-of-principle in autosomal dominant leukodystrophy 81
Expanding the phenotype of Brunner syndrome from childhood to adulthood: Description of the second pediatric patient and his mother 76
Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism 75
Design of a multiplex ligation-dependent probe amplification assay for SLC20A2: identification of two novel deletions in primary familial brain calcification 75
A SPORADIC CASE OF AUTOSOMAL DOMINANT LEUKODYSTROPHY (ADLD) 73
Dental anomalies as a possible clue of 1p36 deletion syndrome due to germline mosaicism: A case report 72
DNA methylation analysis in patients with neurodevelopmental disorders improves variant interpretation and reveals complexity 71
Autosomal dominant leukodystrophy: characterization of eight famiglie with homogeneous phenorype 70
Marked intrafamilial variability of clinical and neuroimaging manifestations in NFIB-related developmental disorder 69
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 69
A Novel CSF1R Mutation in a Patient with Clinical and Neuroradiological Features of Hereditary Diffuse Leukoencephalopathy with Axonal Spheroids 69
CLINICAL AND GENETIC HETEROGENEITY OF FAMILIAL LEUKOENCEPHALOPATHY AND CEREBRAL HAEMORRAGE 68
Novel mutation of SLC20A2 in an Italian patient presenting with migraine 68
A NOVEL 3Q29 DELETION ASSOCIATED WITH AUTISM, INTELLECTUAL DISABILITY, PSYCHIATRIC DISORDERS, AND OBESITY 68
DLG4-related synaptopathy: a new rare brain disorder 68
Expanding the clinical phenotype of the ultra-rare Skraban-Deardorff syndrome: Two novel individuals with WDR26 loss-of-function variants and a literature review 67
A novel cct5 missense variant associated with early onset motor neuropathy 67
Functional analysis of TLK2 variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis 67
Rare coding variation provides insight into the genetic architecture and phenotypic context of autism 66
De novo RANBP2 variant in a fetal demise case with cerebral intraparenchymal hemorrhage 65
Strategie molecolari per la correzione di anomalie cromosomiche 65
Analysis of LMNB1 Duplications in Autosomal Dominant Leukodystrophy Provides Insights into Duplication Mechanisms and Allele-Specific Expression 65
Contribution of autosomal rare and de novo variants to sex differences in autism 64
X chromosome dosage and presence of SRY shape sex-specific differences in DNA methylation at an autosomal region in human cells 64
Structural Variants at the LMNB1 Locus: Deciphering Pathomechanisms in Autosomal Dominant Adult-Onset Demyelinating Leukodystrophy 63
A genome-wide association study with tissue transcriptomics identifies genetic drivers for classic bladder exstrophy 62
Recessive gene disruptions in autism spectrum disorder 62
O056. Migraine as presenting symptom of SLC20A2gene mutations 62
AN ATYPICAL FORM OF AOA2 WITH MYOCLONUS ASSOCIATED WITH MUTATIONS IN SETX AND AFG3L2 61
Novel LRPPRC compound heterozygous mutation in a child with early-onset Leigh syndrome French-Canadian type: Case report of an Italian patient 60
Pathogenic de novo variants in PPP2R5C cause a neurodevelopmental disorder within the Houge-Janssens syndrome spectrum 59
Possible Influence of a Non-Synonymous Polymorphism Located in the NGF Precursor on Susceptibility to Late-Onset Alzheimer's Disease and Mild Cognitive Impairment 58
Wilms tumour occurring in a patient with osteopathia striata with cranial sclerosis: A still unsolved biological question 58
Mek inhibition in a newborn with raf1-associated noonan syndrome ameliorates hypertrophic cardiomyopathy but is insufficient to revert pulmonary vascular disease 58
Functional evaluation of Natural Killer cell cytotoxic activity in NFKB2-mutated patients 58
Large cryptic genomic rearrangements with apparently normal karyotypes detected by array-CGH 57
Prevalence and phenotype of the c.1529C>T SPG7 variant in adult-onset cerebellar ataxia in Italy 57
Protein Stability Perturbation Contributes to the Loss of Function in Haploinsufficient Genes 56
RNA therapeutics for neurological diseases 55
Autozygosity-driven genetic diagnosis in consanguineous families from Italy and the Greater Middle East 55
Spontaneous remission in a Diamond-Blackfan anaemia patient due to a revertant uniparental disomy ablating a de novo RPS19 mutation 55
Mice harbouring a SCA28 patient mutation in AFG3L2 develop late-onset ataxia associated with enhanced mitochondrial proteotoxicity 53
Electroclinical features and outcome of ANKRD11-related KBG syndrome: A novel report and literature review 53
Enhancer hijacking at the ARHGAP36 locus is associated with connective tissue to bone transformation 51
The crucial role of titin in fetal development: recurrent miscarriages and bone, heart and muscle anomalies characterise the severe end of titinopathies spectrum 51
Genomic deletions upstream of lamin B1 lead to atypical autosomal dominant leukodystrophy 51
Messanger RNA processing is altered in autosomal dominant leukodystrophy 50
Biallelic mutations in PSMC3IP are associated with secondary amenorrhea: expanding the spectrum of premature ovarian insufficiency 49
Exome sequencing reveals a rare damaging variant in GRIN2C in familial late-onset Alzheimer's disease 49
Exome sequencing in children of women with skewed X-inactivation identifies atypical cases and complex phenotypes 48
In vitro dexamethasone treatment does not induce alternative ATM transcripts in cells from Ataxia–Telangiectasia patients 47
Clinical Practice Guidelines for the Diagnosis, Management, and Surveillance of LMNB1 -Related Autosomal Dominant Leukodystrophy 46
Cover Image, Volume 170A, Number 7, July 2016 46
HEALTH TECHNOLOGY ASSESSMENT OF GENETIC TESTING FOR SUSCEPTIBILITY TO VENOUS THROMBOEMBOLISM IN ITALY 45
Lamin B1 as a key modulator of the developing and aging brain 44
Functional and clinical implications of genetic structure in 1686 Italian exomes 43
Clinical spectrum and follow-up in six individuals with Lamb–Shaffer syndrome (SOX5) 43
Prenatal findings of cataract and arthrogryposis: recurrence of cerebro-oculo-facio-skeletal syndrome and review of differential diagnosis 42
Understanding the Ultra-Rare Disease Autosomal Dominant Leukodystrophy: an Updated Review on Morpho-Functional Alterations Found in Experimental Models 41
ELOVL5 Mutations Cause Spinocerebellar Ataxia 38 41
NBAS pathogenic variants: defining the associated clinical and facial phenotype and genotype-phenotype correlations 41
SLC20A1 Is Involved in Urinary Tract and Urorectal Development 41
Heterozygous NOTCH1 Variants Cause CNS Immune Activation and Microangiopathy 40
Interface Gain-of-Function Mutations in TLR7 Cause Systemic and Neuro-inflammatory Disease 39
Expanding the phenotype of Brunner syndrome from childhood to adulthood: Description of the second pediatric patient and his mother 39
Three novel missense mutations in SLC20A2 associated with idiopathic basal ganglia calcification 39
SCA Tethering-PCR: A Rapid Genetic Test for the Diagnosis of SCA1-3, 6, and 7 by PCR and Capillary Electrophoresis 38
Interface Gain-of-Function Mutations in TLR7 Cause Systemic and Neuro-inflammatory Disease 37
The impact of clinical genome sequencing in a global population with suspected rare genetic disease 37
Provision of genetic testing for inherited thrombophilia in Italy 37
Severe fluoropyrimidine-related toxicity: clinical implications of DPYD analysis and UH2/U ratio evaluation 35
Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof-of-concept examples 34
Two families with novel missense mutations in COL4A1: When diagnosis can be missed 33
High miR-100 expression is associated with aggressive features and modulates TORC1 complex activation in lung carcinoids 30
Advancing Neuropediatric Rare Disease Diagnosis Through Clinical Genome Sequencing 29
Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition 14
Deleterious coding variation associated with autism is shared across ancestries 4
Totale 6.009
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Categoria #
all - tutte 31.653
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 31.653
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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
2026/2027278 96 182 0 0 0 0 0 0 0 0 0 0
Totale 6.009