IRIS
GIORGIO, ELISA
 Distribuzione geografica
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Continente #
NA - Nord America 1.611
AS - Asia 1.087
EU - Europa 1.059
SA - Sud America 231
AF - Africa 32
OC - Oceania 5
Totale 4.025
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Nazione #
US - Stati Uniti d'America 1.570
IE - Irlanda 396
CN - Cina 350
SG - Singapore 279
HK - Hong Kong 254
RU - Federazione Russa 211
BR - Brasile 194
IT - Italia 193
DE - Germania 75
VN - Vietnam 73
FI - Finlandia 46
GB - Regno Unito 46
JP - Giappone 24
CA - Canada 22
AR - Argentina 18
IN - India 18
SE - Svezia 16
MX - Messico 14
ZA - Sudafrica 14
AT - Austria 12
IR - Iran 12
BD - Bangladesh 11
ES - Italia 11
FR - Francia 10
NL - Olanda 8
PL - Polonia 7
BE - Belgio 6
ID - Indonesia 6
IQ - Iraq 6
MY - Malesia 6
TR - Turchia 6
EC - Ecuador 5
MA - Marocco 5
AE - Emirati Arabi Uniti 4
AU - Australia 4
IL - Israele 4
KZ - Kazakistan 4
UZ - Uzbekistan 4
AZ - Azerbaigian 3
CH - Svizzera 3
CO - Colombia 3
CZ - Repubblica Ceca 3
EG - Egitto 3
JM - Giamaica 3
JO - Giordania 3
OM - Oman 3
PE - Perù 3
PK - Pakistan 3
SA - Arabia Saudita 3
VE - Venezuela 3
CL - Cile 2
EE - Estonia 2
HU - Ungheria 2
KR - Corea 2
MW - Malawi 2
NP - Nepal 2
RO - Romania 2
TN - Tunisia 2
BO - Bolivia 1
BW - Botswana 1
BY - Bielorussia 1
CI - Costa d'Avorio 1
DO - Repubblica Dominicana 1
ET - Etiopia 1
FK - Isole Falkland (Malvinas) 1
HN - Honduras 1
HR - Croazia 1
IM - Isola di Man 1
KE - Kenya 1
KG - Kirghizistan 1
LT - Lituania 1
LU - Lussemburgo 1
LV - Lettonia 1
MZ - Mozambico 1
NO - Norvegia 1
NZ - Nuova Zelanda 1
PH - Filippine 1
PY - Paraguay 1
QA - Qatar 1
SI - Slovenia 1
SK - Slovacchia (Repubblica Slovacca) 1
SN - Senegal 1
TH - Thailandia 1
TM - Turkmenistan 1
TW - Taiwan 1
UA - Ucraina 1
YE - Yemen 1
Totale 4.025
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Città #
Dublin 396
Hong Kong 253
Dallas 232
Chandler 196
Ashburn 168
Beijing 123
Boardman 98
Singapore 83
Princeton 69
Lawrence 66
Los Angeles 59
Shanghai 59
Redondo Beach 41
Medford 37
Moscow 35
Munich 33
Helsinki 32
Buffalo 31
Milan 30
Ho Chi Minh City 29
New York 29
São Paulo 25
Tokyo 24
Chicago 20
The Dalles 18
Hanoi 17
Nanjing 13
Turku 13
Johannesburg 12
Nuremberg 12
Seattle 12
Montreal 11
Pavia 11
Bologna 10
Denver 10
London 9
L’Aquila 9
Rio de Janeiro 9
Rome 9
Santa Clara 9
Stockholm 9
Atlanta 8
Brooklyn 8
Columbus 8
Phoenix 8
Chennai 7
Mexico City 7
Poplar 7
Warsaw 7
Zanjan 7
Brasília 6
Elk Grove Village 6
Guangzhou 6
Orem 6
Belo Horizonte 5
Boston 5
Brussels 5
Changsha 5
Charlotte 5
Chongqing 5
Contagem 5
Da Nang 5
Grand Rapids 5
Hyderabad 5
Paris 5
Sacramento 5
Ankara 4
Dhaka 4
San Francisco 4
Shenzhen 4
Sydney 4
Tashkent 4
Washington 4
Almaty 3
Amman 3
Augusta 3
Baghdad 3
Baku 3
Cariacica 3
Fayetteville 3
Frankfurt am Main 3
Houston 3
Jakarta 3
Jundiaí 3
Newark 3
Quảng Ngãi 3
Raleigh 3
Rubano 3
Secaucus 3
São José do Rio Preto 3
Teramo 3
Turin 3
Vienna 3
Wilmington 3
Andover 2
Azzano San Paolo 2
Blumenau 2
Bragança Paulista 2
Buenos Aires 2
Cairo 2
Totale 2.615
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Nome #
Mapping the human genetic architecture of COVID-19 150
ARF1 haploinsufficiency causes periventricular nodular heterotopia with variable clinical expressivity 99
Array-Comparative Genomic Hybridization Analysis in Fetuses with Major Congenital Malformations Reveals that 24% of Cases Have Pathogenic Deletions/Duplications 83
A syndromic extreme insulin resistance caused by biallelic POC1A mutations in exon 10 81
A case of Feingold type 2 syndrome associated with keratoconus refines keratoconus type 7 locus on chromosome 13q 77
Terapia mediata da RNA di interferenza per malattie neurodegenerative 75
SIMPSON-GOLABI-BEHMEL syndrome type 1: How placental immunohistochemistry can rapidly Predict the diagnosis 74
Biallelic mutations in PSMC3IP are associated with secondary amenorrhea: expanding the spectrum of premature ovarian insufficiency 74
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 73
A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD) 73
A novel homozygous change of CLCN2 (p.His590Pro) is associated with a subclinical form of leukoencephalopathy with ataxia (LKPAT) 71
A novel case of Greenberg dysplasia and genotype-phenotype correlation analysis for LBR pathogenic variants: An instructive example of one gene-multiple phenotypes 70
Mitochondrial Complex I Deficiency: Unraveling the Relevance of NDUFAF1 in Pediatric Hypertrophic Cardiomyopathy 69
A high-content drug screening strategy to identify protein level modulators for genetic diseases: A proof-of-principle in autosomal dominant leukodystrophy 69
Allele-specific silencing as treatment for gene duplication disorders: proof-of-principle in autosomal dominant leukodystrophy 67
A fetal case of microphthalmia and limb anomalies with abnormal neuronal migration associated with SMOC1 biallelic variants 66
Adult-onset autosomal recessive ataxia associated with neuronal ceroid lipofuscinosis type 5 gene (CLN5) mutations 66
A 20-year long term experience of the Italian Diamond-Blackfan Anaemia Registry: RPS and RPL genes, different faces of the same disease? 63
Design of a multiplex ligation-dependent probe amplification assay for SLC20A2: identification of two novel deletions in primary familial brain calcification 61
Expanding the phenotype of Brunner syndrome from childhood to adulthood: Description of the second pediatric patient and his mother 60
Autosomal dominant leukodystrophy: characterization of eight famiglie with homogeneous phenorype 58
CLINICAL AND GENETIC HETEROGENEITY OF FAMILIAL LEUKOENCEPHALOPATHY AND CEREBRAL HAEMORRAGE 56
A SPORADIC CASE OF AUTOSOMAL DOMINANT LEUKODYSTROPHY (ADLD) 56
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 55
Dental anomalies as a possible clue of 1p36 deletion syndrome due to germline mosaicism: A case report 54
A NOVEL 3Q29 DELETION ASSOCIATED WITH AUTISM, INTELLECTUAL DISABILITY, PSYCHIATRIC DISORDERS, AND OBESITY 53
Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism 51
A Novel CSF1R Mutation in a Patient with Clinical and Neuroradiological Features of Hereditary Diffuse Leukoencephalopathy with Axonal Spheroids 51
O056. Migraine as presenting symptom of SLC20A2gene mutations 51
Marked intrafamilial variability of clinical and neuroimaging manifestations in NFIB-related developmental disorder 50
Analysis of LMNB1 Duplications in Autosomal Dominant Leukodystrophy Provides Insights into Duplication Mechanisms and Allele-Specific Expression 50
A novel cct5 missense variant associated with early onset motor neuropathy 50
Novel LRPPRC compound heterozygous mutation in a child with early-onset Leigh syndrome French-Canadian type: Case report of an Italian patient 50
AN ATYPICAL FORM OF AOA2 WITH MYOCLONUS ASSOCIATED WITH MUTATIONS IN SETX AND AFG3L2 48
X chromosome dosage and presence of SRY shape sex-specific differences in DNA methylation at an autosomal region in human cells 48
Novel mutation of SLC20A2 in an Italian patient presenting with migraine 47
DLG4-related synaptopathy: a new rare brain disorder 47
Recessive gene disruptions in autism spectrum disorder 46
Possible Influence of a Non-Synonymous Polymorphism Located in the NGF Precursor on Susceptibility to Late-Onset Alzheimer's Disease and Mild Cognitive Impairment 45
Expanding the clinical phenotype of the ultra-rare Skraban-Deardorff syndrome: Two novel individuals with WDR26 loss-of-function variants and a literature review 45
Structural Variants at the LMNB1 Locus: Deciphering Pathomechanisms in Autosomal Dominant Adult-Onset Demyelinating Leukodystrophy 44
Wilms tumour occurring in a patient with osteopathia striata with cranial sclerosis: A still unsolved biological question 44
Pathogenic cryptic variants detectable through exome data reanalysis significantly increase the diagnostic yield in Joubert syndrome 42
A genome-wide association study with tissue transcriptomics identifies genetic drivers for classic bladder exstrophy 42
Autozygosity-driven genetic diagnosis in consanguineous families from Italy and the Greater Middle East 42
Functional evaluation of Natural Killer cell cytotoxic activity in NFKB2-mutated patients 42
Exome sequencing in children of women with skewed X-inactivation identifies atypical cases and complex phenotypes 42
De novo RANBP2 variant in a fetal demise case with cerebral intraparenchymal hemorrhage 41
Contribution of autosomal rare and de novo variants to sex differences in autism 41
Genomic deletions upstream of lamin B1 lead to atypical autosomal dominant leukodystrophy 41
Mek inhibition in a newborn with raf1-associated noonan syndrome ameliorates hypertrophic cardiomyopathy but is insufficient to revert pulmonary vascular disease 41
Rare coding variation provides insight into the genetic architecture and phenotypic context of autism 40
Pathogenic de novo variants in PPP2R5C cause a neurodevelopmental disorder within the Houge-Janssens syndrome spectrum 40
Spontaneous remission in a Diamond-Blackfan anaemia patient due to a revertant uniparental disomy ablating a de novo RPS19 mutation 40
Strategie molecolari per la correzione di anomalie cromosomiche 39
Functional analysis of TLK2 variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis 39
Large cryptic genomic rearrangements with apparently normal karyotypes detected by array-CGH 38
Messanger RNA processing is altered in autosomal dominant leukodystrophy 38
Electroclinical features and outcome of ANKRD11-related KBG syndrome: A novel report and literature review 38
Cover Image, Volume 170A, Number 7, July 2016 37
Mice harbouring a SCA28 patient mutation in AFG3L2 develop late-onset ataxia associated with enhanced mitochondrial proteotoxicity 37
In vitro dexamethasone treatment does not induce alternative ATM transcripts in cells from Ataxia–Telangiectasia patients 37
Enhancer hijacking at the ARHGAP36 locus is associated with connective tissue to bone transformation 36
Protein Stability Perturbation Contributes to the Loss of Function in Haploinsufficient Genes 36
Clinical spectrum and follow-up in six individuals with Lamb–Shaffer syndrome (SOX5) 36
ELOVL5 Mutations Cause Spinocerebellar Ataxia 38 35
RNA therapeutics for neurological diseases 34
Prevalence and phenotype of the c.1529C>T SPG7 variant in adult-onset cerebellar ataxia in Italy 34
Lamin B1 as a key modulator of the developing and aging brain 30
Understanding the Ultra-Rare Disease Autosomal Dominant Leukodystrophy: an Updated Review on Morpho-Functional Alterations Found in Experimental Models 30
HEALTH TECHNOLOGY ASSESSMENT OF GENETIC TESTING FOR SUSCEPTIBILITY TO VENOUS THROMBOEMBOLISM IN ITALY 30
Functional and clinical implications of genetic structure in 1686 Italian exomes 30
SLC20A1 Is Involved in Urinary Tract and Urorectal Development 29
Three novel missense mutations in SLC20A2 associated with idiopathic basal ganglia calcification 28
DNA methylation analysis in patients with neurodevelopmental disorders improves variant interpretation and reveals complexity 27
Severe fluoropyrimidine-related toxicity: clinical implications of DPYD analysis and UH2/U ratio evaluation 27
Provision of genetic testing for inherited thrombophilia in Italy 27
Prenatal findings of cataract and arthrogryposis: recurrence of cerebro-oculo-facio-skeletal syndrome and review of differential diagnosis 27
SCA Tethering-PCR: A Rapid Genetic Test for the Diagnosis of SCA1-3, 6, and 7 by PCR and Capillary Electrophoresis 27
NBAS pathogenic variants: defining the associated clinical and facial phenotype and genotype-phenotype correlations 26
Heterozygous NOTCH1 Variants Cause CNS Immune Activation and Microangiopathy 25
Exome sequencing reveals a rare damaging variant in GRIN2C in familial late-onset Alzheimer's disease 24
Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof-of-concept examples 24
Interface Gain-of-Function Mutations in TLR7 Cause Systemic and Neuro-inflammatory Disease 23
Interface Gain-of-Function Mutations in TLR7 Cause Systemic and Neuro-inflammatory Disease 23
Two families with novel missense mutations in COL4A1: When diagnosis can be missed 22
The impact of clinical genome sequencing in a global population with suspected rare genetic disease 21
The crucial role of titin in fetal development: recurrent miscarriages and bone, heart and muscle anomalies characterise the severe end of titinopathies spectrum 19
Biallelic mutations in PSMC3IP are associated with secondary amenorrhea: expanding the spectrum of premature ovarian insufficiency 18
High miR-100 expression is associated with aggressive features and modulates TORC1 complex activation in lung carcinoids 18
Expanding the phenotype of Brunner syndrome from childhood to adulthood: Description of the second pediatric patient and his mother 13
Clinical Practice Guidelines for the Diagnosis, Management, and Surveillance of LMNB1 -Related Autosomal Dominant Leukodystrophy 7
Totale 4.203
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Categoria #
all - tutte 24.993
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 24.993
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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
2024/20251.173 42 97 6 3 10 56 53 60 314 58 144 330
2025/20261.492 218 306 268 299 333 68 0 0 0 0 0 0
Totale 4.203